id stringlengths 2 20 | ch_id stringlengths 2 20 | keywords listlengths 0 162 | title stringlengths 0 130 | authors stringlengths 0 245 | abstract stringlengths 0 4.05k | content stringlengths 0 197k | references listlengths 0 142 | created_date stringlengths 0 10 | updated_date stringlengths 0 10 | revised_date stringlengths 0 10 | journal stringclasses 1
value | source_url stringclasses 1
value | publication_types listlengths 2 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
brca1 | brca1 | [
"BRCA1- and BRCA2-Associated HBOC",
"BRCA1- and BRCA2-Associated HBOC",
"Breast cancer type 1 susceptibility protein",
"Breast cancer type 2 susceptibility protein",
"BRCA1",
"BRCA2",
"BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer"
] | Nancie Petrucelli, Mary B Daly, Tuya Pal | Summary The diagnosis of | ## Diagnosis
Breast cancer diagnosed at or before age 50 years
Ovarian cancer
Multiple (i.e., >1) primary breast cancers in either one or both breasts
Male breast cancer
Triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer... | [] | 4/9/1998 | 3/2/2022 | 20/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
brugada | brugada | [
"Sudden Unexpected Nocturnal Death Syndrome",
"Sudden Unexpected Nocturnal Death Syndrome",
"ATP-binding cassette sub-family C member 9",
"ATP-sensitive inward rectifier potassium channel 8",
"A-type voltage-gated potassium channel KCND2",
"A-type voltage-gated potassium channel KCND3",
"Fibroblast grow... | Brugada Syndrome | Ramon Brugada, Oscar Campuzano, Georgia Sarquella-Brugada, Pedro Brugada, Josep Brugada, Kui Hong | Summary Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V The diagnosis of Brugada syndrome is established clinically in an individual with characteristic EKG findings and suggestive clinical history and/or family history. A molecular diagnosis can be established... | ## Diagnosis
Brugada syndrome is a channelopathy, caused by genetic changes in transmembrane ion channels that create action potentials, in this case leading to an increased risk of cardiac arrhythmia [
Brugada syndrome
Recurrent syncope
Ventricular fibrillation
Self-terminating polymorphic ventricular tachycardia... | [
"SM Al-Khatib. Risk stratification of individuals with the Brugada electrocardiogram: a myth or a reality?. J Cardiovasc Electrophysiol 2006;17:584-5",
"C Antzelevitch. Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children.. J Electrocardiol 2001;34:177-81",
"C... | 31/3/2005 | 25/8/2022 | 16/8/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
brylib | brylib | [
"Histone H3.3",
"H3-3A",
"H3-3B",
"Bryant-Li-Bhoj Neurodevelopmental Syndrome"
] | Bryant-Li-Bhoj Neurodevelopmental Syndrome | Laura Bryant, Elizabeth Bhoj | Summary Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB) is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. Many affected individuals do not achieve independent sitting, walking, or speaking, although there is a range of devel... | ## Diagnosis
No consensus clinical diagnostic criteria for Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB) have been published.
Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB)
Mild-to-profound developmental delay (DD) or intellectual disability (ID), most commonly in the severe range
AND
Any of the follo... | [] | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
bscl | bscl | [
"Berardinelli-Seip Congenital Generalized Lipodystrophy",
"Berardinelli-Seip Congenital Generalized Lipodystrophy",
"1-acyl-sn-glycerol-3-phosphate acyltransferase beta",
"Seipin",
"AGPAT2",
"BSCL2",
"Berardinelli-Seip Congenital Lipodystrophy"
] | Berardinelli-Seip Congenital Lipodystrophy | Lionel Van Maldergem | Summary Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus b... | ## Diagnosis
Berardinelli-Seip congenital lipodystrophy (BSCL)
The diagnosis of BSCL
Molecular testing approaches can include
In individuals with intellectual disability or cardiomyopathy, sequencing of
The order of molecular genetic testing may also be stratified by the ethnicity of the affected individual (see... | [
"AK Agarwal, E Arioglu, S De Almeida, N Akkoc, SI Taylor, AM Bowcock, RI Barnes, A Garg. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.. Nat Genet 2002;31:21-3",
"AK Agarwal, RI Barnes, A Garg. Genetic basis of congenital generalized lipodystrophy.. Int J Obes Relat Metab Dis... | 8/9/2003 | 8/12/2016 | 23/8/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
burn-mckeown | burn-mckeown | [
"Burn-McKeown Syndrome (BMKS)",
"TXNL4A-Related Choanal Atresia with Minor Anomalies",
"TXNL4A-Related Isolated Choanal Atresia",
"Thioredoxin-like protein 4A",
"TXNL4A",
"TXNL4A-Related Craniofacial Disorders"
] | Hermann-Josef Lüdecke, Dagmar Wieczorek | Summary The diagnosis of a | Burn-McKeown Syndrome (BMKS)
Choanal atresia with minor anomalies
Isolated choanal atresia
For synonyms and outdated names, see
For other genetic causes of these phenotypes, see
• Burn-McKeown Syndrome (BMKS)
• Choanal atresia with minor anomalies
• Isolated choanal atresia
## Diagnosis
A
Distinctive facies (... | [
"JAC Goos, SMA Swagemakers, SRF Twigg, MF van Dooren, AJM Hoogeboom, C Beetz, S Günther, FJ Magielsen, CW Ockeloen. A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA. Identification of causative variants in TXNL4A in Burn-McKeo... | 14/7/2016 | 12/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
bvd | bvd | [
"Best Vitelliform Macular Dystrophy (BVMD)",
"BEST1 Adult-onset Vitelliform Macular Dystrophy (AVMD)",
"Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)",
"Autosomal Recessive Bestrophinopathy (ARB)",
"Bestrophin-1",
"BEST1",
"Bestrophinopathies"
] | Bestrophinopathies | Ian M MacDonald, Thomas Lee, Jessica Lawrence | Summary Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in The diagnosis of autosomal dominant bestrophinopathy is established in a proband with suggestive findings and a heterozygous BVMD, AVMD, and ADVIRC are inherited in an autosomal dominant (AD) manner. By definition, autosom... | Best vitelliform macular dystrophy (BVMD)
Adult-onset vitelliform macular dystrophy (AVMD)
Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Autosomal recessive bestrophinopathy (ARB)
For synonyms and outdated names, see
• Best vitelliform macular dystrophy (BVMD)
• Adult-onset vitelliform macular dystrophy (... | [
"RE Andrade, ME Farah, RA Costa. Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease.. Am J Ophthalmol 2003;136:1179-81",
"MA Apushkin, GA Fishman, CM Taylor, EM Stone. Novel de novo mutation in a patient with Best macular dystrophy.. Arch Ophthalmol 2006;124:887-9",
... | 30/9/2003 | 16/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
bws | bws | [
"Wiedemann-Beckwith Syndrome",
"Beckwith-Wiedemann Spectrum (BWSp)",
"Wiedemann-Beckwith Syndrome",
"Beckwith-Wiedemann Spectrum (BWSp)",
"Cyclin-dependent kinase inhibitor 1C",
"Insulin-like growth factor 2",
"Potassium voltage-gated channel subfamily KQT member 1",
"CDKN1C",
"H19",
"IGF2",
"KC... | Beckwith-Wiedemann Syndrome | Cheryl Shuman, Jennifer M Kalish, Rosanna Weksberg | Summary Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalitie... | ## Diagnosis
The phenotypic presentation of Beckwith-Wiedemann syndrome (BWS) is highly variable, and no consensus clinical diagnostic criteria are universally accepted at this time. Clinical diagnostic scoring systems have been proposed and can assist with guiding diagnostic considerations, genetic testing, and manag... | [] | 3/3/2000 | 8/6/2023 | 21/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ca5a-def | ca5a-def | [
"CA-VA Deficiency",
"CA-VA Deficiency",
"Carbonic anhydrase 5A, mitochondrial",
"CA5A",
"Carbonic Anhydrase VA Deficiency"
] | Carbonic Anhydrase VA Deficiency | Clara van Karnebeek, Johannes Häberle | Summary Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have presented between day 2 of life and early childhood (up to age 20 months) with hyperammonemic encephalopathy (i.e., lethargy, feeding intolerance, weight loss, tachypnea, seizures, and coma). Given that fewer than 20 affected indi... | ## Diagnosis
No consensus clinical diagnostic criteria for carbonic anhydrase VA (CA-VA) deficiency have been published.
Significant elevation of plasma ammonia, lactate, and ketones (with concomitant increased urinary ketones). Hypoglycemia can also be seen.
Complex acid-base status that includes respiratory alka... | [
"C Diez-Fernandez, V Rüfenacht, S Santra, AM Lund, R Santer, M Lindner, T Tangeraas, C Unsinn, P de Lonlay, A Burlina, CD van Karnebeek, J Häberle. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.. Genet Med. 2016;18:991-1000",
... | 2/4/2015 | 26/8/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cach | cach | [
"CACH/VWM",
"Leukoencephalopathy with Vanishing White Matter",
"Leukoencephalopathy with Vanishing White Matter",
"CACH/VWM",
"Translation initiation factor eIF2B subunit alpha",
"Translation initiation factor eIF2B subunit beta",
"Translation initiation factor eIF2B subunit delta",
"Translation initi... | Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter | Marjo S van der Knaap, Anne Fogli, Odile Boespflug-Tanguy, Truus EM Abbink, Raphael Schiffmann | Summary Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1... | ## Diagnosis
Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM)
Antenatal/early-infantile form:
Oligohydramnios
Intrauterine growth restriction
Severe encephalopathy
Microcephaly
Contractures
Cataract
Pancreatitis
Hepatosplenomegaly
Renal hypoplasia
Later-onse... | [] | 20/2/2003 | 4/4/2019 | 9/8/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cact-def | cact-def | [
"CACT Deficiency",
"CACT Deficiency",
"Mitochondrial carnitine/acylcarnitine carrier protein",
"SLC25A20",
"Carnitine-Acylcarnitine Translocase Deficiency"
] | Carnitine-Acylcarnitine Translocase Deficiency | J Andres Morales Corado, Chung U Lee, Gregory M Enns | Summary Carnitine-acylcarnitine translocase (CACT) is a critical component of the carnitine shuttle, which facilitates the transfer of long-chain fatty acylcarnitines across the inner mitochondrial membrane. CACT deficiency causes a defect in mitochondrial long-chain fatty acid β-oxidation, with variable clinical sever... | ## Diagnosis
Carnitine acylcarnitine translocase (CACT) is a part of the carnitine shuttle that is localized to the inner mitochondrial membrane. It transfers long-chain acylcarnitines formed by the action of carnitine palmitoyl-transferase I (CPT1) in the outer mitochondrial membrane into the mitochondrial matrix in ... | [
"AI Al Aqeel, MS Rashid, JP Ruiter, L Ijlst, RJ Wanders. A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.. Clin Genet. 2003;64:163-5",
"NA Al-Sannaa, GM Cheriyan. Carnitine-acylcarnitine translocase deficiency: clinical course of three Saudi children with a severe pheno... | 21/7/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cadasil | cadasil | [
"Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",
"Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",
"Neurogenic locus notch homolog protein 3",
"NOTCH3",
"CADASIL"
] | CADASIL | Remco J Hack, Julie Rutten, Saskia AJ Lesnik Oberstein | Summary CADASIL ( The diagnosis of CADASIL is established in a proband either by identification of a heterozygous pathogenic variant in CADASIL is inherited in an autosomal dominant manner. Most affected individuals have an affected parent; | ## Diagnosis
There are no generally accepted diagnostic criteria for CADASIL (
CADASIL
Transient ischemic attacks and ischemic stroke
Cognitive impairment, manifesting initially with executive dysfunction, with a concurrent stepwise deterioration due to recurrent strokes to vascular dementia
Migraine with aura, ... | [
"H Abou Al-Shaar, N Qadi, MH Al-Hamed, BF Meyer, S Bohlega. Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.. J Neurol Sci. 2016;367:239-43",
"P Adib-Samii, G Brice, RJ Martin, HS Markus. Clinical spectrum of CADASIL and the effect of cardiovascula... | 15/3/2000 | 14/3/2019 | 14/7/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
caffey | caffey | [
"Infantile Cortical Hyperostosis",
"Infantile Cortical Hyperostosis",
"Collagen alpha-1(I) chain",
"COL1A1",
"Caffey Disease"
] | Caffey Disease | Andrea Guerin, Lucie Dupuis, Roberto Mendoza-Londono | Summary Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, soft-tissue swelling, and pain, with onset between birth and five months and spontaneous resolut... | ## Diagnosis
No consensus clinical diagnostic criteria for Caffey disease have been published.
Caffey disease
Irritability, fever, and/or pallor
Soft-tissue swelling and pain adjacent to involved bones (See
Subperiosteal cortical hyperostosis of the diaphyses of the long bones (with sparing of the epiphyses)
... | [] | 2/8/2012 | 23/5/2024 | 29/11/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cah | cah | [
"21-OHD CAH",
"Virilizing Adrenal Hyperplasia",
"Virilizing Adrenal Hyperplasia",
"21-OHD CAH",
"Classic Simple Virilizing 21-OHD CAH",
"Classic Salt-Wasting 21-OHD CAH",
"Non-Classic 21-OHD CAH",
"Steroid 21-hydroxylase",
"CYP21A2",
"21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia"
] | 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | Saroj Nimkarn, Prasanna K Gangishetti, Mabel Yau, Maria I New | Summary 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all in... | Classic simple virilizing 21-OHD CAH
Classic salt-wasting 21-OHD CAH
Non-classic 21-OHD CAH
For synonyms and outdated names see
• Classic simple virilizing 21-OHD CAH
• Classic salt-wasting 21-OHD CAH
• Non-classic 21-OHD CAH
## Diagnosis
21-hydroxylase-deficient congenital adrenal hyperplasia (21-OHD CAH)
Fem... | [] | 26/2/2002 | 4/2/2016 | 24/8/2010 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
campo-dysp | campo-dysp | [
"Camptomelic Dysplasia",
"SOX9-Related Campomelic Dysplasia",
"Camptomelic Dysplasia",
"SOX9-Related Campomelic Dysplasia",
"Acampomelic Campomelic Dysplasia",
"Transcription factor SOX-9",
"SOX9",
"Campomelic Dysplasia"
] | Campomelic Dysplasia | Sheila Unger, Gerd Scherer, Andrea Superti-Furga | Summary Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia ... | Acampomelic campomelic dysplasia
Campomelic dysplasia
For synonyms and outdated names see
• Acampomelic campomelic dysplasia
• Campomelic dysplasia
## Diagnosis
No consensus clinical diagnostic criteria for campomelic dysplasia (CD) have been published. The diagnosis of CD (derived from the Greek for "bent limb")... | [
"H Akiyama, V Lefebvre. Unraveling the transcriptional regulatory machinery in chondrogenesis.. J Bone Miner Metab 2011;29:390-5",
"S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, N Jamshidi, A Essafi, S Heaney, CT Gordon, D McBride, C Golzio, M Fisher, P Perry, V Abadie, C Ayuso, M Holder-Espinasse... | 31/7/2008 | 18/3/2021 | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
canavan | canavan | [
"ASPA Deficiency",
"Aspartoacylase Deficiency",
"Aspartoacylase Deficiency",
"ASPA Deficiency",
"Typical Canavan Disease",
"Atypical Canavan Disease",
"Aspartoacylase",
"ASPA",
"Canavan Disease"
] | Canavan Disease | Amanda Nagy, Annette E Bley, Florian Eichler | Summary Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%). Typical Canavan disease is characteriz... | Canavan Disease: Phenotypic Spectrum
For synonyms and outdated names see
## Diagnosis
No consensus clinical diagnostic criteria for Canavan disease have been published.
Canavan disease
The triad of hypotonia, head lag, and macrocephaly after age three to five months
Poor visual tracking and nystagmus
Difficu... | [] | 16/9/1999 | 21/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cantu | cantu | [
"ATP-binding cassette sub-family C member 9",
"ATP-sensitive inward rectifier potassium channel 8",
"ABCC9",
"KCNJ8",
"Cantú Syndrome"
] | Cantú Syndrome | Dorothy K Grange, Colin G Nichols, Gautam K Singh | Summary Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair... | ## Diagnosis
No formal diagnostic criteria for Cantú syndrome have been established.
Cantú syndrome
Congenital hypertrichosis: excess hair growth on scalp, forehead, face, back, and limbs (See
Craniofacial dysmorphic features: coarse facial features, epicanthal folds, broad nasal bridge, anteverted nares, long phil... | [
"C Antzelevitch, GX Yan. J wave syndromes.. Heart Rhythm 2010;7:549-58",
"M Bienengraeber, TM Olson, VA Selivanov, EC Kathmann, F O'Cochlain, F Gao, AB Karger, JD Ballew, DM Hodgson, LV Zingman, YP Pang, AE Alekseev, A Terzic. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP chann... | 2/10/2014 | 1/10/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
carasil | carasil | [
"CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)",
"CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)",
"Classic CARASIL",
"HTRA1 Cerebral Small Vessel Disease (HTRA1-CSVD)",
"Serine protease HTRA1",
... | Osamu Onodera, Hiroaki Nozaki, Toshio Fukutake | Summary Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-... | Classic CARASIL
For synonym s and outdated names see
• Classic CARASIL
## Diagnosis
Clinical diagnostic criteria for
Slowly progressive dementia
Mood changes, such as apathy and irritability
Slowly progressive gait disturbance with spasticity in the lower extremities [
Note: Those with a heterozygous
Additiona... | [
"P Adib-Samii, G Brice, RJ Martin, HS Markus. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals.. Stroke 2010;41:630-4",
"S Bianchi, C Di Palma, GN Gallus, I Taglia, A Poggiani, F Rosini, A Rufa, DF Muresanu, A Cerase, MT Dott... | 27/4/2010 | 7/11/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
carney | carney | [
"Carney Syndrome",
"Carney Syndrome",
"cAMP-dependent protein kinase type I-alpha regulatory subunit",
"PRKAR1A",
"Carney Complex"
] | Carney Complex | Constantine A Stratakis | Summary Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or ... | ## Diagnosis
Consensus clinical diagnostic criteria for Carney complex (CNC) have been published [
CNC
Spotty skin pigmentation with typical distribution (lips, conjunctiva and inner or outer canthi, vaginal and penile mucosa)
Myxoma * (cutaneous and mucosal)
Cardiac myxoma *
Breast myxomatosis * or fat-suppres... | [] | 5/2/2003 | 21/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cask-dis | cask-dis | [
"Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH)",
"X-Linked Intellectual Disability (XLID) with or without Nystagmus",
"Peripheral plasma membrane protein CASK",
"CASK",
"CASK Disorders"
] | Ute Moog, Kerstin Kutsche | Summary Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic MICPCH is typically seen in females with moderate-to-severe intellectual disabi... | Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
X-linked intellectual disability (XLID) with or without nystagmus
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Intellectual disability and microcephaly with pontine and cerebellar hypop... | [
"L Burglen, S Chantot-Bastaraud, C Garel, M Milh, R Touraine, G Zanni, F Petit, A Afenjar, C Goizet, S Barresi, A Coussement, C Ioos, L Lazaro, S Joriot, I Desguerre, D Lacombe, V des Portes, E Bertini, JP Siffroi, TB de Villemeur, D Rodriguez. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK m... | 26/11/2013 | 21/5/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
catsper-mi | catsper-mi | [
"CATSPER-Related Nonsyndromic Male Infertility",
"Deafness-Infertility Syndrome",
"Cation channel sperm-associated protein 1",
"Cation channel sperm-associated protein 2",
"Stereocilin",
"CATSPER1",
"CATSPER2",
"STRC",
"CATSPER-Related Male Infertility"
] | Michael S Hildebrand, Matthew R Avenarius, Richard JH Smith | Summary The diagnosis of | Deafness-infertility syndrome (DIS)
For synonyms and outdated names, see
For other genetic causes of these phenotypes see
• Deafness-infertility syndrome (DIS)
## Diagnosis
Nonsyndromic (
Associated with non-progressive prelingual sensorineural hearing loss (deafness-infertility syndrome [DIS]).
Male factor in... | [] | 3/12/2009 | 23/3/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cav | cav | [
"Caveolin-3 Deficiency",
"Caveolin-3 Deficiency",
"Limb-Girdle Muscular Dystrophy Type 1C",
"Isolated HyperCKemia",
"Rippling Muscle Disease",
"Distal Myopathy",
"CAV3-Related Hypertrophic Cardiomyopathy",
"Caveolin-3",
"CAV3",
"Caveolinopathies"
] | Caveolinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Claudio Bruno, Federica Sotgia, Elisabetta Gazzerro, Carlo Minetti, Michael P Lisanti | Summary The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, posit... | Limb-girdle muscular dystrophy 1C
Isolated hyperCKemia
Rippling muscle disease
Distal myopathy
Hypertrophic cardiomyopathy
For other genetic causes of these phenotypes see
• Limb-girdle muscular dystrophy 1C
• Isolated hyperCKemia
• Rippling muscle disease
• Distal myopathy
• Hypertrophic cardiomyopathy
## D... | [
"A Aboumousa, J Hoogendijk, R Charlton, R Barresi, R Herrmann, T Voit, J Hudson, M Roberts, D Hilton-Jones, M Eagle, K Bushby, V Straub. Caveolinopathy – New mutations and additional symptoms.. Neuromuscul Disord 2008;18:572-8",
"L Alias, P Gallano, D Moreno, R Pujol, JA Martinez-Matos, M Baiget, I Ferrer, M Oliv... | 14/5/2007 | 6/9/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cbl | cbl | [
"cblE",
"cblC",
"cblG",
"cblD-combined",
"cblD-homocystinuria",
"cblX",
"cblF",
"cbIJ",
"Cobalamin trafficking protein CblD",
"Cyanocobalamin reductase / alkylcobalamin dealkylase",
"Host cell factor 1",
"Lysosomal cobalamin transport escort protein LMBD1",
"Lysosomal cobalamin transporter A... | Disorders of Intracellular Cobalamin Metabolism | Jennifer L Sloan, Nuria Carrillo, David Adams, Charles P Venditti | Summary Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine gro... | ## Diagnosis
The disorders of intracellular cobalamin metabolism result from deficient synthesis of the coenzymes derived from vitamin B
Adenosylcobalamin (AdoCbl) – the coenzyme for methylmalonyl-CoA mutase enzyme
Methylcobalamin (MeCbl) – the coenzyme for the enzyme methionine synthase (MTR) (
This
Note: All the... | [] | 25/2/2008 | 6/9/2018 | 16/12/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cc2-leuk | cc2-leuk | [
"Chloride channel protein 2",
"CLCN2",
"CLCN2-Related Leukoencephalopathy"
] | Rogier Min, Christel Depienne, Frederic Sedel, Truus EM Abbink, Marjo S van der Knaap | Summary The diagnosis of | ## Diagnosis
Mild ataxia
Mild cognitive impairment
Psychiatric symptoms
Headache
Decreased vision caused by chorioretinopathy or optic atrophy
Auditory symptoms including hearing loss, tinnitus, and vertigo
Male infertility caused by oligo-/azoospermia
Abnormally low signal on T
Posterior limbs of the inte... | [
"J Blanz, M Schweizer, M Auberson, H Maier, A Muenscher, CA Hübner, TJ Jentsch. Leukoencephalopathy upon disruption of the chloride channel ClC-2.. J Neurosci. 2007;27:6581-9",
"MR Bösl, V Stein, C Hübner, AA Zdebik, SE Jordt, AK Mukhopadhyay, MS Davidoff, AF Holstein, TJ Jentsch. Male germ cells and photorecepto... | 5/11/2015 | 20/5/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cca | cca | [
"Beals-Hecht Syndrome",
"Beals Syndrome",
"Beals Syndrome",
"Beals-Hecht Syndrome",
"Fibrillin-2",
"FBN2",
"Congenital Contractural Arachnodactyly"
] | Congenital Contractural Arachnodactyly | Bert Callewaert | Summary Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slend... | ## Diagnosis
Formal diagnostic criteria for congenital contractural arachnodactyly (CCA) have not been established.
Classic CCA
Arachnodactyly with positive wrist and thumb sign
Flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers
Kyphoscoliosis (usually progressive)
Abnor... | [
"BL Callewaert, BL Loeys, A Ficcadenti, S Vermeer, M Landgren, HY Kroes, Y Yaron, M Pope, N Foulds, O Boute, F Galán, H Kingston, N Van der Aa, I Salcedo, ME Swinkels, C Wallgren-Pettersson, O Gabrielli, J De Backer, PJ Coucke, AM De Paepe. Comprehensive clinical and molecular assessment of 32 probands with congeni... | 23/1/2001 | 21/10/2019 | 14/7/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ccd | ccd | [
"Cleidocranial Dysostosis",
"Cleidocranial Dysostosis",
"Runt-related transcription factor 2",
"RUNX2",
"Cleidocranial Dysplasia Spectrum Disorder"
] | Cleidocranial Dysplasia Spectrum Disorder | Keren Machol, Roberto Mendoza-Londono, Brendan Lee | Summary Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal f... | ## Diagnosis
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a continuum of clinical and radiographic findings ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental... | [
"DH Bae, JH Lee, JS Song, HS Jung, HJ Choi, JH Kim. Genetic analysis of non-syndromic familial multiple supernumerary premolars.. Acta Odontol Scand. 2017;75:350-4",
"A Becker, J Lustmann, A Shteyer. Cleidocranial dysplasia: Part 1--General principles of the orthodontic and surgical treatment modality.. Am J Orth... | 3/1/2006 | 13/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ccfdn | ccfdn | [
"CTDP1-CCFDN",
"CTDP1-CCFDN",
"RNA polymerase II subunit A C-terminal domain phosphatase",
"CTDP1",
"CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy"
] | Luba Kalaydjieva, Teodora Chamova | Summary The diagnosis of | ## Diagnosis
Bilateral congenital cataracts, microcornea, and micropupils
Mildly dysmorphic facial features apparent from late childhood (prominent midface with a well-developed nose, thickening of the perioral tissues, forwardly directed anterior dentition, and micrognathia)
Hypo-/demyelinating peripheral neuropath... | [
"S Amente, G Naplitano, P Licciardo, M Monti, P Pucci, L Lania, B Majello. Identification of proteins interacting with the RNAPII FCP1 phosphatase: FCP1 forms a complex with arginine methyltransferase PRMT5 and it is a substrate for PRMT5-mediated methylation.. FEBS Lett. 2005;579:683-9",
"J Archambault, RD Chamb... | 2/3/2010 | 13/10/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ccm | ccm | [
"Familial Cavernous Hemangioma",
"Familial Cerebral Cavernous Angioma",
"Familial Cerebral Cavernous Malformation Syndrome",
"Familial Cavernous Hemangioma",
"Familial Cerebral Cavernous Angioma",
"Familial Cerebral Cavernous Malformation Syndrome",
"Cerebral cavernous malformations 2 protein",
"Krev ... | Familial Cerebral Cavernous Malformations | Kelly D Flemming, Edward Smith, Douglas Marchuk, W Brent Derry | Summary Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increa... | ## Diagnosis
No consensus clinical diagnostic criteria for familial cerebral cavernous malformations (FCCM) have been published.
FCCM
Seizures
Focal neurologic deficits
Headaches
Systemic vascular lesions
Vascular skin lesions. Three main types of cutaneous vascular malformations (CVMs) have been associated wi... | [] | 24/2/2003 | 27/7/2023 | 13/7/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cco | cco | [
"Ryanodine receptor 1",
"RYR1",
"Central Core Disease"
] | Central Core Disease – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | May Christine V Malicdan, Ichizo Nishino | Summary Central core disease (CCD) is characterized by muscle weakness ranging from mild to severe. Most affected individuals have mild disease with symmetric proximal muscle weakness and variable involvement of facial and neck muscles. The extraocular muscles are often spared. Motor development is usually delayed, bu... | ## Diagnosis
Diagnosis of central core disease
In early-onset disease:
Hypotonia and generalized weakness, often accompanied by perinatal complications including poor fetal movement, respiratory insufficiency, and poor suck
Delayed motor milestones (Independent ambulation is commonly achieved between ages three and... | [
"PB Agrawal, RS Greenleaf, KK Tomczak, VL Lehtokari, C Wallgren-Pettersson, W Wallefeld, NG Laing, BT Darras, SK Maciver, PR Dormitzer, AH Beggs. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.. Am J Hum Genet 2007;80:162-7",
"G A... | 16/5/2007 | 4/12/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cd-chst3 | cd-chst3 | [
"CHST3 Deficiency",
"CHST3-Related Skeletal Dysplasia",
"Recessive Larsen Syndrome",
"Recessive Larsen Syndrome",
"CHST3 Deficiency",
"CHST3-Related Skeletal Dysplasia",
"Carbohydrate sulfotransferase 3",
"CHST3",
"Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related"
] | Chondrodysplasia with Congenital Joint Dislocations, | Andrea Superti-Furga, Sheila Unger | Summary Chondrodysplasia with congenital joint dislocations, The diagnosis of CDCJD- CDCJD- | ## Diagnosis
Chondrodysplasia with congenital joint dislocations,
Joint dislocations at birth (knees, hips, radial heads) with short stature (See
Clubfeet
Limitation of range of motion that can involve all large joints
Development of kyphosis and occasionally scoliosis with slight shortening of the trunk in chil... | [] | 1/9/2011 | 1/8/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cda1 | cda1 | [
"CDAN1-interacting nuclease 1",
"Codanin-1",
"CDAN1",
"CDIN1",
"Congenital Dyserythropoietic Anemia Type I"
] | Congenital Dyserythropoietic Anemia Type I | Hannah Tamary, Orly Dgany | Summary Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals prese... | ## Diagnosis
Congenital dyserythropoietic anemia type I (CDA I)
Moderate-to-severe macrocytic anemia with mean corpuscular volume (MCV) >90 fL in the presence of normal folic acid and serum vitamin B
Inappropriately low number of reticulocytes for the degree of anemia compared to other hemolytic anemias (secondary... | [
"A Abu-Quider, M Asleh, H Shalev, Y Fruchtman, M Ben-Harosh, G Beck, J Kapelushnik. Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a.. Eur J Haematol. 2020;105:216-22",
"K Ask, Z Jasencakova, P Menard, Y Feng, G Almouzni, A. Groth. Codanin-1... | 21/4/2009 | 29/7/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cdg-1a | cdg-1a | [
"CDG-Ia",
"Congenital Disorder of Glycosylation Type 1a (CDG1a)",
"Phosphomannomutase 2 Deficiency",
"Phosphomannomutase 2 Deficiency",
"CDG-Ia",
"Congenital Disorder of Glycosylation Type 1a (CDG1a)",
"Phosphomannomutase 2",
"PMM2",
"PMM2-CDG"
] | PMM2-CDG | Christina Lam, Donna M Krasnewich | Summary PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly vari... | ## Diagnosis
PMM2-CDG is the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides.
PMM2-CDG
Faltering growth
Hypothyroidism, hypogonadism
Esotropia
Pericardial effusion
Abnormal subcutaneous fat pattern including increased suprapubic fat pad, skin dimpling, and inverted ni... | [
"S Akaboshi, K Ohno, K Takeshita. Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome.. Neuroradiology 1995;37:491-5",
"R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, D Cassiman, A Cechova, D Coman, J Corral, J Correia, ME de la Morena-Barrio, P de Lonlay, V Dos ... | 15/8/2005 | 20/5/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cdg | cdg | [
"Carbohydrate-Deficient Glycoprotein Syndromes",
"CDG Syndromes",
"CDG Syndromes",
"Carbohydrate-Deficient Glycoprotein Syndromes",
"PMM2-CDG",
"Alpha-1,2-mannosyltransferase ALG9",
"Alpha-1,3/1,6-mannosyltransferase ALG2",
"Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase",
"B... | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | Susan E Sparks, Donna M Krasnewich | Summary Many human disorders of glycosylation pathways have now been identified; they include defects in synthetic pathways for N-linked oligosaccharides, O-linked oligosaccharides, shared substrates, glycophosphatidylinositol (GPI) anchors, and dolichols. This overview will focus on disorders of the N-linked glycan sy... | ## Clinical Characteristics of Congenital Disorders of Glycosylation
CDG-N-linked are a group of disorders caused by the defective synthesis of N-linked oligosaccharides, sugars linked together in a specific pattern and attached to proteins and lipids (N-linked glycans link to the amide group of asparagine via an N-ac... | [] | 15/8/2005 | 12/1/2017 | 30/1/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cdh-ov | cdh-ov | [
"AT-rich interactive domain-containing protein 1A",
"AT-rich interactive domain-containing protein 1B",
"Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe",
"Chromodomain-helicase-DNA-binding protein 7",
"Collagen alpha-1(III) chain",
"COUP transcription factor 2",
"Cyclin-dependent kinase inhibit... | Congenital Diaphragmatic Hernia Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Mauro Longoni, Barbara R Pober, Frances A High | Summary The purpose of this overview is to: Describe the Review the Provide an Review Inform | ## Clinical Characteristics of Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) refers to a developmental defect of the formation of the diaphragm that, in most individuals, is evident at birth. CDH is characterized by: (1) incomplete formation/muscularization of the diaphragm resulting in absenc... | [] | 1/2/2006 | 28/3/2019 | 5/11/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cdk13-dis | cdk13-dis | [
"CDK13-Related Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder",
"CDK13-Related CHDFIDD",
"CDK13-Related CHDFIDD",
"CDK13-Related Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorder",
"Cyclin-dependent kinase 13",
"CDK1... | Bret Bostwick | Summary The diagnosis of | ## Diagnosis
No formal clinical diagnostic criteria for
Developmental delay / intellectual disability
Structural cardiac defects
Atrial septal defects
Ventricular septal defects
Pulmonary valve abnormalities
Hypoplastic pulmonary artery
Suggestive facial dysmorphisms (See
Agenesis/hypogenesis of the corpus c... | [
"D Blazek, J Kohoutek, K Bartholomeeusen, E Johansen, P Hulinkova, Z Luo, P Cimermancic, J Ule, BM Peterlin. The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.. Genes Dev. 2011;25:2158-72",
"BL Bostwick, S McLean, JE Posey, H Streff, KW Gripp, A Bless... | 31/1/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
cdkl5-def | cdkl5-def | [
"Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (CDD)",
"CDKL5-Related Developmental and Epileptic Encephalopathy",
"Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (CDD)",
"CDKL5-Related Developmental and Epileptic Encephalopathy",
"Cyclin-dependent kinase-like 5",
"CDKL5",
"CDKL... | CDKL5 Deficiency Disorder | Tim A Benke, Scott Demarest, Katie Angione, Jenny Downs, Helen Leonard, Jacinta Saldaris, Eric D Marsh, Heather Olson, Isabel Haviland | Summary CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy (DEE) characterized by severe early-onset intractable epilepsy and motor, cognitive, visual, and autonomic disturbances. Movement disorders include chorea, dystonia, and stereotypical hand and leg movements. Although females are mor... | ## Diagnosis
For the purposes of this
Diagnostic criteria for CDKL5 deficiency disorder (CDD) have been proposed [
CDD
Typically beginning within the first two months of life (up to age 12 months)
Usually severe, with multiple episodes per day
Seizure types vary over time. Epileptic spasms (without hypsarrhythm... | [] | 11/4/2024 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cdkn2a-cpd | cdkn2a-cpd | [
"CDKN2A-Related Melanoma-Astrocytoma Syndrome (MAS)",
"Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM)",
"Melanoma-Pancreatic Cancer Syndrome",
"CDKN2A-Related Melanoma-Astrocytoma Syndrome (MAS)",
"Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM)",
"Melanoma-Pancreatic Cancer Syndrome"... | Michelle F Jacobs, Andrea M Murad, Nicole D Cho, Kelly B Cha, Elena M Stoffel, Tobias Else | Summary The diagnosis of | ## Diagnosis
≥3 cutaneous melanomas at any age
Pancreatic cancer and melanoma at any age
≥1 melanoma AND multiple melanocytic nevi (>50)
Astrocytoma and melanoma in the same individual at any age
Astrocytoma and family history of melanoma in two first-degree relatives at any age
The diagnosis of
Note: (1) Per AC... | [] | 17/7/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
cdls | cdls | [
"BDLS",
"Brachmann-de Lange Syndrome",
"CdLS",
"de Lange Syndrome",
"BDLS",
"Brachmann-de Lange Syndrome",
"CdLS",
"de Lange Syndrome",
"Bromodomain-containing protein 4",
"Double-strand-break repair protein rad21 homolog",
"Histone deacetylase 8",
"Nipped-B-like protein",
"Structural mainte... | Cornelia de Lange Syndrome | Matthew A Deardorff, Sarah E Noon, Ian D Krantz | Summary Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal a... | ## Diagnosis
Cornelia de Lange syndrome (CdLS) constitutes a clinical spectrum, with some individuals having milder features and others displaying more severe, classic features. An international consensus statement has defined both cardinal and suggestive features, as well as a scoring system to define classic and non... | [] | 16/9/2005 | 15/10/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cdp1-xlr | cdp1-xlr | [
"Arylsulfatase E Deficiency",
"Arylsulfatase E Deficiency",
"Arylsulfatase L",
"ARSL",
"Chondrodysplasia Punctata 1, X-Linked"
] | Chondrodysplasia Punctata 1, X-Linked | Nancy E Braverman, Michael B Bober, Nicola Brunetti-Pierri, Sharon F Suchy | Summary X-linked chondrodysplasia punctata 1 (CDPX1) is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have s... | ## Diagnosis
X-linked chondrodysplasia punctata 1 (CDPX1) should be
Brachytelephalangy (shortening of the distal phalanges)
Nasomaxillary hypoplasia
Hypoplasia of the anterior nasal spine
Flattened nasal base
Reduced nasal tip protrusion with short columella
Crescent-shaped nostrils
Vertical grooves within th... | [
"E Alkhunaizi, S Unger, P Shannon, G Nishimura, S Blaser, D. Chitayat. Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.. Am J Med Genet A. 2020;182:1807-11",
"JL Alessandri, D Ramful, F Cuillier. Binder phenotype and brachytelephalangic cho... | 22/4/2008 | 15/10/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cdsp | cdsp | [
"Carnitine Deficiency",
"Carnitine Transport Defect (CTD)",
"Carnitine Uptake Defect (CUD)",
"Systemic Primary Carnitine Deficiency",
"Carnitine Deficiency",
"Carnitine Transport Defect (CTD)",
"Carnitine Uptake Defect (CUD)",
"Systemic Primary Carnitine Deficiency",
"Organic cation/carnitine transp... | Primary Carnitine Deficiency | Ayman W El-Hattab, Mohammed Almannai | Summary Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. If untreated, it encompasses a broad clinical spectrum including: (1) metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketot... | ## Diagnosis
A diagnosis of primary carnitine deficiency (PCD) may be suspected due to an abnormal newborn screening result prior to onset of suggestive findings (see
NBS for PCD is primarily based on use of dried blood spots collected between 24 hours and 72 hours after birth to quantify free carnitine (C0) concentr... | [] | 15/3/2012 | 5/12/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ce-dysp | ce-dysp | [
"Sensenbrenner Syndrome",
"Sensenbrenner Syndrome",
"Intraflagellar transport protein 122 homolog",
"Intraflagellar transport protein 140 homolog",
"Intraflagellar transport protein 43 homolog",
"Intraflagellar transport protein 52 homolog",
"WD repeat-containing protein 19",
"WD repeat-containing pro... | Cranioectodermal Dysplasia | Weizhen Tan, Angela Lin, Kim Keppler-Noreuil | Summary Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characte... | ## Diagnosis
Cranioectodermal dysplasia (CED)
Characteristic facial features (e.g., frontal bossing, low-set/simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip)
Brachydactyly
Dolichocephaly and sagittal craniosynostosis
Shortening (and bowing) of proximal bones (mostly hume... | [] | 12/9/2013 | 11/3/2021 | 15/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cebpa-aml | cebpa-aml | [
"CEBPA-Dependent Familial Acute Myeloid Leukemia",
"CEBPA-Dependent Familial Acute Myeloid Leukemia",
"CCAAT/enhancer-binding protein alpha",
"CEBPA",
"CEBPA-Associated Familial Acute Myeloid Leukemia (AML)"
] | Kiran Tawana, Jude Fitzgibbon | Summary The diagnosis of Predisposition to | ## Diagnosis
Individuals with AML who also have a family history of AML
Individuals who have developed AML at an early age (<50 years)
Typically, individuals with AML presenting before age 50 years with pathogenic variants in both copies of
In the majority of individuals, a normal karyotype detected in leukemic... | [
"DA Arber, A Orazi, R Hasserjian, J Thiele, MJ Borowitz, MM Le Beau, CD Bloomfield, M Cazzola, JW Vardiman. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.. Blood. 2016;127:2391-405",
"O Bereshchenko, E Mancini, S Moore, D Bilbao, R Månsson, S Luc, A Grov... | 21/10/2010 | 18/2/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ced | ced | [
"Progressive Diaphyseal Dysplasia, TGFB1-Related Diaphyseal Dysplasia Camurati-Engelmann",
"Progressive Diaphyseal Dysplasia",
"TGFB1-Related Diaphyseal Dysplasia Camurati-Engelmann",
"Ribbing Disease",
"Transforming growth factor beta-1 proprotein",
"TGFB1",
"Camurati-Engelmann Disease"
] | Camurati-Engelmann Disease | Stephanie E Wallace, William R Wilcox | Summary Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingemen... | The scope of this
## Diagnosis
No consensus clinical diagnostic criteria for Camurati-Engelmann disease have been published.
Camurati-Engelmann disease (CED)
Proximal muscle weakness
Easy fatigability
Bone pain primarily affecting the lower extremities
Waddling gait
The clinical diagnosis of CED can be
The cli... | [] | 25/6/2004 | 31/8/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
celiac | celiac | [
"Celiac Sprue",
"Cœliac Disease",
"Gluten-Sensitive Enteropathy",
"Nontropical Sprue",
"Coeliac Disease",
"Celiac Sprue",
"Nontropical Sprue",
"Gluten-Sensitive Enteropathy",
"HLA class II histocompatibility antigen, DQ alpha 1 chain",
"HLA class II histocompatibility antigen, DQ(W1.1) beta chain"... | Celiac Disease | Annette K Taylor, Benjamin Lebwohl, Cara L Snyder, Peter HR Green | Summary Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflamma... | ## Diagnosis
Celiac disease
Gastrointestinal signs/symptoms (e.g., diarrhea, malabsorption, abdominal pain, distention, bloating, vomiting, weight loss)
Dermatitis herpetiformis
Chronic fatigue
Joint pain/inflammation
Neurologic symptoms (e.g., peripheral neuropathy, ataxia, seizures, migraines, attention-defic... | [] | 3/7/2008 | 31/1/2019 | 14/6/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cep | cep | [
"Günther Disease",
"Günther disease",
"Erythroid transcription factor",
"Uroporphyrinogen-III synthase",
"GATA1",
"UROS",
"Congenital Erythropoietic Porphyria"
] | Congenital Erythropoietic Porphyria | Angelika Erwin, Manisha Balwani, Robert J Desnick | Summary Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark re... | ## Diagnosis
No consensus clinical diagnostic criteria for congenital erythropoietic porphyria (CEP) have been published.
Congenital erythropoietic porphyria (CEP)
Nonimmune hydrops fetalis
Signs of congenital erythropoietic porphyria
Pink-to-dark red discoloration of the urine (pink or dark red urine-stained di... | [
"DR Bickers. The dermatologic manifestations of human porphyria.. Ann N Y Acad Sci. 1987;514:261-7",
"DF Bishop, A Johansson, R Phelps, AA Shady, MC Ramirez, M Yasuda, A Caro, RJ Desnick. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the charac... | 12/9/2013 | 15/4/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cetp-def | cetp-def | [
"Cholesteryl Ester Transfer Protein (CETP) Deficiency",
"Primary Hyperalphalipoproteinemia",
"Cholesteryl Ester Transfer Protein (CETP) Deficiency",
"Primary Hyperalphalipoproteinemia",
"Biallelic CETP-Related Hyperalphalipoproteinemia (HALP)",
"Heterozygous CETP-Related Hyperalphalipoproteinemia (HALP)",... | John R Burnett, Amanda J Hooper, Robert A Hegele | Summary The molecular diagnosis of biallelic Biallelic | Biallelic
Heterozygous
For other genetic causes of these phenotypes, see
• Biallelic
• Heterozygous
## Diagnosis
No consensus clinical diagnostic criteria for
Biallelic (homozygous or compound heterozygous)
Plasma total cholesterol level of 220-320 mg/dL (5.7-8.3 mmol/L)
HDL-C level of 100-250 mg/dL (2.6-6.5 m... | [] | 8/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
cf | cf | [
"Cystic fibrosis transmembrane conductance regulator",
"CFTR",
"Cystic Fibrosis"
] | Cystic Fibrosis | Adrienne Savant, Benjamin Lyman, Christine Bojanowski, Jariya Upadia | Summary Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic de... | ## Diagnosis
Consensus clinical diagnostic criteria for cystic fibrosis (CF) have been established [
NBS for CF is based on quantification of immunoreactive trypsinogen (IRT) and subsequent molecular testing including either
Elevated IRT values with or without the presence of
Suggestive clinical and laboratory fi... | [] | 26/3/2001 | 10/11/2022 | 8/8/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cfc | cfc | [
"CFC Syndrome",
"CFC Syndrome",
"Dual specificity mitogen-activated protein kinase kinase 1",
"Dual specificity mitogen-activated protein kinase kinase 2",
"GTPase KRas",
"Serine/threonine-protein kinase B-raf",
"BRAF",
"KRAS",
"MAP2K1",
"MAP2K2",
"Cardiofaciocutaneous Syndrome"
] | Cardiofaciocutaneous Syndrome | Katherine A Rauen | Summary Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratos... | ## Diagnosis
Cardiofaciocutaneous (CFC) syndrome is one the RASopathies: a group of syndromes having overlapping clinical features resulting from a common pathogenetic mechanism [
Cardiofaciocutaneous (CFC) syndrome
Dysmorphic facial features (see
Cardiac anomalies and rhythm disturbance, including pulmonic stenosi... | [] | 18/1/2007 | 9/2/2023 | 6/9/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cfeom | cfeom | [
"CFEOM",
"CFEOM",
"Tukel Syndrome",
"Kinesin-like protein KIF21A",
"Paired mesoderm homeobox protein 2A",
"Tubulin beta-2B chain",
"Tubulin beta-3 chain",
"KIF21A",
"PHOX2A",
"TUBB2B",
"TUBB3",
"Congenital Fibrosis of the Extraocular Muscles",
"Overview"
] | Congenital Fibrosis of the Extraocular Muscles Overview | Mary C Whitman, Julie A Jurgens, David G Hunter, Elizabeth C Engle | Summary The purpose of this overview is to: Describe the Review the Review the disorders to consider the Provide an Review Inform | ## Clinical Characteristics of Congenital Fibrosis of the Extraocular Muscles
Congenital fibrosis of the extraocular muscles (CFEOM) is diagnosed based on characteristic eye findings: congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all ... | [] | 27/4/2004 | 12/8/2021 | 29/12/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cftd | cftd | [
"CFTDM",
"Congenital Myopathy with Fiber-Type Disproportion",
"CFTDM",
"Congenital Myopathy with Fiber-Type Disproportion",
"Actin, alpha skeletal muscle",
"Myosin-7",
"Ryanodine receptor 1",
"Selenoprotein N",
"Tropomyosin alpha-3 chain",
"Tropomyosin beta chain",
"ACTA1",
"MYH7",
"RYR1",
... | Congenital Fiber-Type Disproportion – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Elizabeth Taylor DeChene, Peter B Kang, Alan H Beggs | Summary Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe generalized muscle weakness at birth or within the first year of life. Although some individuals remain non-ambulatory throughout life, many eventually develop the ability to walk. In more than 90% of affected i... | ## Diagnosis
Diagnosis of congenital fiber-type disproportion (CFTD), a genetically and clinically heterogeneous congenital myopathy, is based on a combination of the following [
Morphologic features observed on
The original criteria presented by Brooke in 1973 required that type 1 fibers be at least 12% smaller tha... | [
"BL Banwell, LE Becker, V Jay, GP Taylor, J Vajsar. Cardiac manifestations of congenital fiber-type disproportion myopathy.. J Child Neurol 1999;14:83-7",
"JA Bevilacqua, N Monnier, M Bitoun, B Eymard, A Ferreiro, S Monges, F Lubieniecki, AL Taratuto, A Laquerrière, KG Claeys, I Marty, M Fardeau, P Guicheney, J L... | 12/1/2007 | 11/4/2013 | 23/10/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cgd | cgd | [
"CGD",
"CGD",
"Cytochrome b-245 chaperone 1",
"Cytochrome b-245 light chain",
"NADPH oxidase 2",
"Neutrophil cytosol factor 1",
"Neutrophil cytosol factor 2",
"Neutrophil cytosol factor 4",
"CYBA",
"CYBB",
"CYBC1",
"NCF1",
"NCF2",
"NCF4",
"Chronic Granulomatous Disease"
] | Chronic Granulomatous Disease | Jennifer W Leiding, Steven M Holland | Summary Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses ... | ## Diagnosis
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is caused by pathogenic variants in one of six genes that encode or permit assembly of the subunits of ... | [
"DG Aguilera, T Tomita, V Rajaram, J Fangusaro, BZ Katz, S Shulman, S Goldman. Glioblastoma multiforme in a patient with chronic granulomatous disease treated with subtotal resection, radiation, and thalidomide: case report of a long-term survivor.. J Pediatr Hematol Oncol. 2009;31:965-9",
"A Almutairi, F Zaman, ... | 9/8/2012 | 21/4/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
chac | chac | [
"Chorea-Acanthocytosis (ChAc)",
"Choreoacanthocytosis",
"Choreoacanthocytosis",
"Chorea-Acanthocytosis (ChAc)",
"Intermembrane lipid transfer protein VPS13A",
"VPS13A",
"VPS13A Disease"
] | Kevin Peikert, Carol Dobson-Stone, Luca Rampoldi, Gabriel Miltenberger-Miltenyi, Aaron Neiman, Pietro De Camilli, Andreas Hermann, Ruth H Walker, Anthony P Monaco, Adrian Danek | Summary The diagnosis of | ## Diagnosis
"
Acanthocytosis is neither necessary nor sufficient to diagnose the disorder.
Suggestive clinical findings include:
Huntingtonism triad of progressive deterioration of movement, cognition, and behavior
Progressive movement disorder
Commonly chorea and dystonia in early disease stages
Sometimes a pa... | [] | 14/6/2002 | 30/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
char | char | [
"Transcription factor AP-2-beta",
"TFAP2B",
"Char Syndrome"
] | Char Syndrome | Bruce D Gelb | Summary Char syndrome is characterized by the triad of typical facial features, patent ductus arteriosus, and aplasia or hypoplasia of the middle phalanges of the fifth fingers. Typical facial features are depressed nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis, ... | ## Diagnosis
Formal clinical diagnostic criteria for Char syndrome have not been published.
Char syndrome
Typical facial features with depressed nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis, short philtrum with prominent philtral ridges with an upward point... | [] | 15/8/2003 | 21/5/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
charge | charge | [
"CHD7-Related CHARGE Syndrome",
"Chromodomain-helicase-DNA-binding protein 7",
"CHD7",
"CHD7 Disorder"
] | Conny M van Ravenswaaij-Arts, Meg Hefner, Kim Blake, Donna M Martin | Summary The diagnosis of | With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of heterozygous
## Diagnosis
Coloboma of the iris, retina, choroid, and/or disc, and/or anophthalmos or microphthalmos
Choanal atresia or stenosis: unilateral or bilateral, bon... | [] | 2/10/2006 | 17/9/2020 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
chchd10-dis | chchd10-dis | [
"Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial",
"CHCHD10",
"CHCHD10-Related Disorders"
] | Samira Ait-El-Mkadem Saadi, Annabelle Chaussenot, Sylvie Bannwarth, Cécile Rouzier, Véronique Paquis-Flucklinger | Summary Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons and lower motor neurons Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline... | With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that heterozygous
## Diagnosis
A
Slowly progressive behavioral changes (disinhibition, loss of initiative, loss of interest in environment, psychiatric symptoms)
Language disturbances (word-finding diffic... | [] | 1/7/2015 | 27/5/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
chd2-dis | chd2-dis | [
"Chromodomain-helicase-DNA-binding protein 2",
"CHD2",
"CHD2-Related Neurodevelopmental Disorders"
] | Gemma L Carvill, Heather C Mefford | Summary The diagnosis of a | ## Diagnosis
Early-onset developmental and epileptic encephalopathy (i.e., refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity [
Seizure onset between ages six months and four years
Drop attacks and rapid onset of multiple seizure types associated with gener... | [
"AS Allen, SF Berkovic, P Cossette, N Delanty, D Dlugos, EE Eichler, MP Epstein, T Glauser, DB Goldstein, Y Han, EL Heinzen, Y Hitomi, KB Howell, MR Johnson, R Kuzniecky, DH Lowenstein, YF Lu, MR Madou, AG Marson, HC Mefford, S Esmaeeli Nieh, TJ O'Brien, R Ottman, S Petrovski, A Poduri, EK Ruzzo, IE Scheffer, EH Sh... | 10/12/2015 | 21/1/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
chd4-ndd | chd4-ndd | [
"Sifrim-Hitz-Weiss Syndrome",
"SIHIWES",
"Sifrim–Hitz–Weiss Syndrome (SIHIWES)",
"Chromodomain-helicase-DNA-binding protein 4",
"CHD4",
"CHD4 Neurodevelopmental Disorder"
] | Karin Weiss, Katherine Lachlan | Summary The diagnosis of | ## Diagnosis
Formal diagnostic criteria for
Generalized hypotonia of infancy
Macrocephaly or relative macrocephaly
Congenital heart defects (septal defects, conotruncal anomalies, and valvular abnormalities)
Skeletal and limb anomalies (vertebral fusion, carpal/tarsal coalition, syndactyly, polydactyly)
Hypogonad... | [
"A Pinard, S Guey, D Guo, AC Cecchi, N Kharas, S Wallace, ES Regalado, EM Hostetler, AZ Sharrief, F Bergametti, M Kossorotoff, D Hervé, M Kraemer, MJ Bamshad, DA Nickerson, ER Smith, E Tournier-Lasserve, DM Milewicz. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angio... | 3/9/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
chd8-ndd-og | chd8-ndd-og | [
"Chromodomain-helicase-DNA-binding protein 8",
"CHD8",
"CHD8-Related Neurodevelopmental Disorder with Overgrowth"
] | Marissa W Mitchel, Scott M Myers, Alexis R Heidlebaugh, Cora M Taylor, Hannah Rea, Emily Neuhaus, Evangeline C Kurtz-Nelson, Rachel Earl, Raphael Bernier, David H Ledbetter, Christa L Martin, Evan E Eichler | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Developmental delay (DD) and/or intellectual disability (ID) (typically in the mild-to-moderate range)
Neuropsychiatric disorders, including autism spectrum disorder (ASD)
Generalized overgrowth, including tall stature and macrocephaly
Sleep disturbance
... | [] | 27/10/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
chediak-higashi | chediak-higashi | [
"Classic Chediak-Higashi Syndrome",
"Atypical Chediak-Higashi Syndrome",
"Lysosomal-trafficking regulator",
"LYST",
"Chediak-Higashi Syndrome"
] | Chediak-Higashi Syndrome | Camilo Toro, Marie Morimoto, May Christine Malicdan, David R Adams, Wendy J Introne | Summary Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, a mild bleeding tendency, and late adolescent- to adult-onset neurologic manifestations (e.g., learning difficulties, peripheral neuropathy, ataxia, and parkinsonism). While present in nearly all individu... | Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, a mild bleeding tendency, and late adolescent- to adult-onset neurologic manifestations (e.g., learning difficulties, peripheral neuropathy, ataxia, and parkinsonism). All individuals are at risk of developing he... | [] | 3/3/2009 | 21/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
chek2-cpd | chek2-cpd | [
"Serine/threonine-protein kinase Chk2",
"CHEK2",
"CHEK2-Related Cancer Predisposition"
] | Helen Hanson, Tuya Pal, Marc Tischkowitz, Douglas Stewart | Summary The diagnosis of | ## Diagnosis
Estrogen receptor (ER)-positive breast cancer, particularly young onset and/or bilateral breast cancer in a proband with a family history of breast cancer in close relatives
Prostate cancer, particularly in a proband with a family history of prostate and/or breast cancer
Results from a risk assessment... | [] | 29/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
cherubism | cherubism | [
"Opioid growth factor receptor-like protein 1",
"SH3 domain-binding protein 2",
"OGFRL1",
"SH3BP2",
"Cherubism"
] | Cherubism | Anne Morice, Natacha Kadlub, Amélie Coudert | Summary Cherubism is a childhood-onset autoinflammatory bone disease characterized by proliferative fibroosseous lesions limited to the mandible and maxilla. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary bone lysis and cortical expansion with dental, orbital/ophthalmologic, res... | ## Diagnosis
No consensus clinical diagnostic criteria for cherubism have been published.
Cherubism
Onset usually between age two and seven years
Bilateral, symmetric progressive enlargement of the mandible (See
Symmetric or asymmetric enlargement of the maxilla
Swelling of submandibular and cervical lymph node... | [] | 26/2/2007 | 20/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
chh | chh | [
"Metaphyseal Dysplasia without Hypotrichosis (MDWH)",
"Anauxetic Dysplasia (AD)",
"Cartilage-Hair Hypoplasia (CHH)",
"Not applicable",
"RMRP",
"Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders"
] | Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders | Outi Mäkitie, Svetlana Vakkilainen | Summary The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH) Cartilage-hair hypoplasia (CHH) Anauxetic dysplasia (AD) CHH-AD spectrum disorders are characterized by severe disproportiona... | Metaphyseal dysplasia without hypotrichosis (MDWH)
Cartilage-hair hypoplasia (CHH)
Anauxetic dysplasia (AD)
For synonyms and outdated names see
• Metaphyseal dysplasia without hypotrichosis (MDWH)
• Cartilage-hair hypoplasia (CHH)
• Anauxetic dysplasia (AD)
## Diagnosis
There are no formal diagnostic criteria f... | [] | 15/3/2012 | 11/5/2023 | 7/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
chkb-md | chkb-md | [
"Megaconial Congenital Muscular Dystrophy",
"Megaconial Congenital Muscular Dystrophy",
"CHKB-Related Congenital Muscular Dystrophy (CHKB-CMD)",
"CHKB-Related Adolescent-Onset Limb-Girdle Muscular Dystrophy (CHKB-LGMD)",
"Choline/ethanolamine kinase",
"CHKB",
"CHKB-Related Muscular Dystrophy"
] | Sophelia HS Chan, Ichizo Nishino | Summary CMD: All affected children have developmental delay and speech delay; gross motor milestones are delayed with subsequent loss of ambulation over time. Most have intellectual disability of varying severity; some have no speech. Autism spectrum disorder or attention-deficit/hyperactivity disorder is common. Dilat... | ## GeneReview Scope
Congenital muscular dystrophy (CMD)
Adolescent-onset limb-girdle muscular dystrophy (LGMD)
For other genetic causes of these phenotypes, see
No genotype-phenotype correlations for
• Congenital muscular dystrophy (CMD)
• Adolescent-onset limb-girdle muscular dystrophy (LGMD)
## Diagnosis
No d... | [
"M Bardhan, K Polavarapu, NN Bevinahalli, PK Veeramani, RM Anjanappa, G Arunachal, L Shingavi, S Vengalil, S Nashi, T Chawla, D Nagabushana, D Mohan, R Horvath, I Nishino, N Atchayaram. Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.. J Hum Genet. 2021;66:... | 30/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
chol-liver-ov | chol-liver-ov | [
"3 beta-hydroxysteroid dehydrogenase type 7",
"Aldo-keto reductase family 1 member D1",
"Alpha-methylacyl-CoA racemase",
"Bile acid receptor",
"Bile acid-CoA:amino acid N-acyltransferase",
"Bile salt export pump",
"Cytochrome P450 7B1",
"Kinesin-like protein KIF12",
"Lipolysis-stimulated lipoprotein... | Pediatric Genetic Cholestatic Liver Disease Overview | Maria Amendola, James E Squires | Summary The purpose of this overview is to: Briefly describe the common Review the Provide an Review high-level dietary, medical, and surgical Inform Note: Disorders in which cholestasis is a secondary manifestation of the underlying causative pathology are outside the scope of this chapter. | ## Clinical Characteristics of Genetic Cholestatic Liver Disease
For the purposes of this chapter, the term "primary cholestatic liver disease" is used to designate those inherited disorders in which cholestasis is a primary manifestation of the underlying causative pathology (such as transport of bile acids and phos... | [] | 15/9/2022 | 25/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
choroid | choroid | [
"Rab proteins geranylgeranyltransferase component A 1",
"CHM",
"Choroideremia"
] | Choroideremia | Ian M MacDonald, Stacey Hume, Yi Zhai, Manlong Xu | Summary Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carri... | ## Diagnosis
Peripapillary atrophy of the RPE occurs early and is progressive [
The function and anatomy of the central macula are preserved until late in the disease process and can be demonstrated with fundus autofluorescence imaging (
The diagnosis of choroideremia
Note: Identification of a hemizygous
Molecul... | [] | 21/2/2003 | 4/3/2021 | 28/5/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
christianson | christianson | [
"Sodium/hydrogen exchanger 6",
"SLC9A6",
"Christianson Syndrome"
] | Christianson Syndrome | Eric M Morrow, Matthew F Pescosolido | Summary Christianson syndrome (referred to as CS in this The diagnosis of CS is established in a male proband by identification of a hemizygous pathogenic variant in Measurement of weight and height (and calculation of body mass index) Assessment for scoliosis/kyphoscoliosis Detailed history and related assessments in ... | ## Diagnosis
Christianson syndrome (referred to as CS in this
Developmental delay / intellectual disability (usually severe to profound)
Absent to minimal language development
Hyperkinesis
Epilepsy (onset usually before age three years)
Truncal ataxia
Postnatal-onset microcephaly
Nondysmorphic facial features... | [
"AL Christianson, RE Stevenson, CH van der Meyden, J Pelser, FW Theron, PL van Rensburg, M Chandler, CE Schwartz. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.. J Med Genet 1999;36:759-66",... | 11/1/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
chrom17-lis | chrom17-lis | [
"LIS1-Related Lissencephaly / Subcortical Band Heterotopia",
"LIS1-Related Lissencephaly/Subcortical Band Heterotopia",
"PAFAH1B1-Related Subcortical Band Heterotopia (SBH)",
"PAFAH1B1-Related Isolated Lissencephaly Sequence (ILS)",
"Platelet-activating factor acetylhydrolase IB subunit beta",
"PAFAH1B1",... | Stefanie Brock, William B Dobyns, Anna Jansen | Summary The diagnosis of Individuals diagnosed with isolated | Isolated lissencephaly sequence (ILS)
Subcortical band heterotopia (SBH)
For other genetic causes of these phenotypes, see
• Isolated lissencephaly sequence (ILS)
• Subcortical band heterotopia (SBH)
## Diagnosis
Note: This chapter on
Generalized hypotonia
Abnormal arching (opisthotonus) in infants transition... | [] | 3/3/2009 | 25/3/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cip-overview | cip-overview | [
"Beta-nerve growth factor",
"Clathrin heavy chain 2",
"High affinity nerve growth factor receptor",
"PR domain zinc finger protein 12",
"Sodium channel protein type 11 subunit alpha",
"Sodium channel protein type 9 subunit alpha",
"Zinc finger homeobox protein 2",
"CLTCL1",
"NGF",
"NTRK1",
"PRDM... | Congenital Insensitivity to Pain Overview | Katherine Rose Schon, Alasdair Patrick John Parker, Christopher Geoffrey Woods | Summary The purpose of this overview is to: Describe the Review the Provide an Provide a brief summary of Inform | ## Clinical Characteristics of Congenital Insensitivity to Pain
Inability to feel pain leads to repeated injuries and prevents normal healing.
Self-mutilating injuries of the fingers (biting off fingertips) and oral cavity such as loss of the tongue tip, injuries to the inside of the teeth/gums, and avulsion of te... | [] | 8/2/2018 | 11/6/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ciss | ciss | [
"Cardiotrophin-like cytokine factor 1",
"Cytokine receptor-like factor 1",
"CLCF1",
"CRLF1",
"Cold-Induced Sweating Syndrome Including Crisponi Syndrome"
] | Cold-Induced Sweating Syndrome Including Crisponi Syndrome | Angelika F Hahn, Per Morten Knappskog | Summary Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of faci... | ## Diagnosis
Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome (CS)
Round face
Chubby cheeks
Low-set ears
Depressed nasal bridge and anteverted nares
Long philtrum, high-arched palate, and micrognathia
Cubitus valgus and flexion deformity at the elbows
Fisted hands, camptod... | [
"A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persic, A Loi, L Marcia, W Höhne, G Cuccuru, G Fotia, M Deiana, M Marongui, HT Atalay, S Inan, O El Assy, LME Smit, I Okur, K Boduroglu, GE Utine, E Kilic, G Zamoino, G Crisponi, L Crisponi, F Rutsch. Biallelic mutations in KLHL7 cause a Crisponi/CISS1-like phe... | 3/3/2011 | 12/8/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
citrin | citrin | [
"Citrullinemia Type II (CTLN2)",
"Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)",
"Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency (FTTDCD)",
"Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
"SLC25A13",
"Citrin Deficiency"
] | Citrin Deficiency | Yuan-Zong Song, Kimihiko Oishi, Takeyori Saheki | Summary Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia ... | Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD)
Citrullinemia type II (CTLN2)
• Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
• Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD... | [] | 16/9/2005 | 20/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
clcn4-ndd | clcn4-ndd | [
"Raynaud-Claes Syndrome",
"H(+)/Cl(-) exchange transporter 4",
"CLCN4",
"CLCN4-Related Neurodevelopmental Disorder"
] | Elizabeth Emma Palmer, Matthew Huu Nguyen, Caitlin Forwood, Vera Kalscheuer | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Developmental delay or intellectual disability
Autism spectrum disorder
Epilepsy
Mental health conditions including anxiety and bipolar disorder
Gastrointestinal dysfunction
Unremarkable facial features. Although a subtle lengthening of the face and sq... | [
"S Claes, A Vogels, M Holvoet, K Devriendt, P Raeymaekers, JJ Cassiman, JP Fryns. Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).. Am J Med Genet. 1997;73:474-79",
"AR Duncan, MM Polovitskaya, H Gaitán-Peñas, S Bertelli, GE VanNoy, ... | 16/12/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
clcn7 | clcn7 | [
"Autosomal Dominant Osteopetrosis Type II (ADOII)",
"Autosomal Recessive Osteopetrosis (ARO)",
"Intermediate Autosomal Osteopetrosis (IAO)",
"H(+)/Cl(-) exchange transporter 7",
"CLCN7",
"CLCN7-Related Osteopetrosis"
] | Cristina Sobacchi, Anna Villa, Ansgar Schulz, Uwe Kornak | Summary The spectrum of The diagnosis of a Once the | For other genetic causes of these phenotypes see
## Diagnosis
The spectrum of
Autosomal recessive osteopetrosis (ARO; infantile malignant
Intermediate autosomal osteopetrosis (IAO)
Autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease)
A
Diagnostic Features of the Subtypes of
ADOII = autosom... | [
"M Aker, A Rouvinski, S Hashavia, A Ta-Shma, A Shaag, S Zenvirt, S Israel, M Weintraub, A Taraboulos, Z Bar-Shavit, O Elpeleg. An SNX10 mutation causes malignant osteopetrosis of infancy.. J Med Genet 2012;49:221-6",
"OD Bénichou, JD Laredo, MC de Vernejoul. Type II autosomal dominant osteopetrosis (Albers-Schönb... | 12/2/2007 | 20/1/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
clpb-def | clpb-def | [
"Caseinolytic Peptidase B Deficiency",
"CLPB Defect",
"Caseinolytic Peptidase B Deficiency",
"CLPB Deficiency",
"Mitochondrial disaggregase",
"CLPB",
"CLPB Deficiency"
] | CLPB Deficiency | Saskia B Wortmann, Ron A Wevers | Summary CLPB ( The diagnosis of CLPB deficiency is established in a proband by identification of biallelic pathogenic variants in CLPB deficiency associated with biallelic Once the | ## Diagnosis
CLPB (
The disease spectrum of CLPB deficiency ranges from severe to mild.
Polyhydramnios, fetal contractures, intrauterine growth restriction
Microcephaly
Hyperekplexia, absence of voluntary movements, respiratory insufficiency, and swallowing problems
Hypotonia or hypertonia
Seizures
Spastici... | [
"JM Capo-Chichi, S Boissel, E Brustein, S Pickles, C Fallet-Bianco, C Nassif, L Patry, S Dobrzeniecka, M Liao, D Labuda, ME Samuels, FF Hamdan, C Vande Velde, GA Rouleau, P Drapeau, JL Michaud. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.. J M... | 22/11/2016 | 10/3/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cls | cls | [
"Coffin-Lowry Syndrome",
"Ribosomal protein S6 kinase alpha-3",
"RPS6KA3",
"RPS6KA3-Related Intellectual Disability"
] | R Curtis Rogers, Fatima E Abidi | Summary The phenotypic spectrum associated with The diagnosis of | With the current widespread use of multigene panels and comprehensive genomic testing based on an unbiased (i.e., not phenotype-driven) approach, it has become apparent that the phenotypic spectrum associated with
## Diagnosis
For the purposes of this
Other findings in some individuals:
Hypotonia
Stimulus-induce... | [
"MR Ammar, Y Humeau, A Hanauer, B Nieswandt, MF Bader, N Vitale. The Coffin-Lowry syndrome-associated protein RSK2 regulates neurite outgrowth through phosphorylation of phospholipase D1 (PLD1) and synthesis of phosphatidic acid.. J Neurosci 2013;33:19470-9",
"EA Arslan, S Ceylander, G Turanli. Stimulus-induced m... | 16/7/2002 | 16/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cmd-overview | cmd-overview | [
"Collagen Type VI-Related Disorders",
"FKTN-Related Muscle Diseases",
"FKRP-Related Muscle Diseases",
"LARGE-Related Muscle Diseases",
"LAMA2-Related Muscular Dystrophy",
"LMNA-Related Muscle Diseases",
"POMGNT1-Related Muscle Diseases",
"POMT1-Related Muscle Diseases",
"POMT2-Related Muscle Disease... | Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Susan E Sparks, Susana Quijano-Roy, Amy Harper, Anne Rutkowski, Erynn Gordon, Eric P Hoffman, Elena Pegoraro | Summary Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present wi... | ## Definition of CMD
The term congenital muscular dystrophy (CMD) refers to a heterogeneous group of inherited disorders in which weakness is first apparent at birth or in infancy. With the discovery of causative pathogenic variants in multiple genes in the last two decades, the concept of CMD has evolved from a narro... | [
"V Allamand, L Merlini, K Bushby. Consortium for Collagen VI-Related Myopathies. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.. Neuromuscul Disord. 2010;20:346-54",
"CG Bönnemann, A Rutkowski, E Mercuri, F Muntoni. 173rd ENMC International Work... | 22/1/2001 | 4/1/2011 | 23/8/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cmr | cmr | [
"Anderson Disease",
"Anderson Disease",
"Small COPII coat GTPase SAR1B",
"SAR1B",
"Chylomicron Retention Disease"
] | Chylomicron Retention Disease | John R Burnett, Amanda J Hooper, Robert A Hegele | Summary Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of ... | ## Diagnosis
No consensus clinical diagnostic criteria for chylomicron retention disease (CMRD) have been published.
CMRD
Failure to thrive, with diarrhea
Fat malabsorption with steatorrhea
Vomiting
Abdominal distention
Marked hypocholesterolemia:
Plasma total cholesterol level ~60 mg/dL (1.5 mmol/L)
HDL c... | [] | 24/3/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cms | cms | [
"Congenital Myasthenia",
"Congenital Myasthenia",
"43 kDa receptor-associated protein of the synapse",
"Acetylcholine receptor subunit alpha",
"Acetylcholine receptor subunit beta",
"Acetylcholine receptor subunit delta",
"Acetylcholine receptor subunit epsilon",
"Acetylcholinesterase collagenic tail ... | Congenital Myasthenic Syndromes Overview | Angela Abicht, Juliane S Müller, Hanns Lochmüller | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Congenital Myasthenic Syndromes
An individual with a congenital myasthenic syndrome (CMS) typically presents with a history of fatigable weakness involving ocular, bulbar, and limb muscles with onset at or shortly after birth or in early childhood, usually in the first two years. Rarely... | [] | 9/5/2003 | 23/12/2021 | 28/6/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cmt-4a | cmt-4a | [
"GDAP1-HMSN",
"GDAP1-Related Charcot-Marie-Tooth Neuropathy",
"GDAP1-HMSN",
"GDAP1-Related Charcot-Marie-Tooth Neuropathy",
"Ganglioside-induced differentiation-associated protein 1",
"GDAP1",
"GDAP1-Related Hereditary Motor and Sensory Neuropathy"
] | Thomas D Bird | Summary Diagnosis of Prenatal testing for pregnancies at increased risk for | AD = autosomal dominant; AR = autosomal recessive; CMT = Charcot-Marie-Tooth neuropathy; CMTRIA = Charcot-Marie-Tooth Neuropathy, recessive intermediate A
MOI = mode of inheritance
Hereditary motor and sensory neuropathy is also referred to as "Charcot-Marie-Tooth neuropathy"; see
## Diagnosis
Early onset of peri... | [] | 11/5/2004 | 30/3/2017 | 6/3/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cmt-dib | cmt-dib | [
"Dominant Intermediate Charcot-Marie-Tooth Neuropathy Type B (DI-CMTB)",
"DI-CMTB",
"Dominant Intermediate Charcot-Marie-Tooth Neuropathy Type B",
"Dynamin-2",
"DNM2",
"DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy"
] | Stephan Züchner, Feifei Tao | Summary The diagnosis is suspected in individuals with typical findings of CMT hereditary neuropathy and intermediate or axonal motor median nerve conduction velocities (NCV) ranging from 26 m/s to normal. Diagnosis requires identification of a heterozygous pathogenic variant in DI-CMTB is inherited in an autosomal do... | ## Diagnosis
Sensory and motor deficiencies involving the lower legs
Sensory loss
Depressed tendon reflexes
Distal muscle weakness and atrophy
Asymptomatic neutropenia
Early-onset cataracts (noted before age 15 years)
The diagnosis of DI-CMTB
Molecular testing approaches can include
In a person with a CMT ph... | [
"Z Argov, M de Visser. What we do not know about pregnancy in hereditary neuromuscular disorders.. Neuromuscul Disord. 2009;19:675-9",
"M Bitoun, T Stojkovic, B Prudhon, CA Maurage, P Latour, P Vermersch, P Guicheney. A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pat... | 8/7/2010 | 25/6/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cmt | cmt | [
"Distal Hereditary Motor Neuropathy (dHMN)",
"Hereditary Motor/Sensory Neuropathy (HMSN)",
"CMT",
"Distal Hereditary Motor Neuropathy (dHMN)",
"Hereditary Motor/Sensory Neuropathy (HMSN)",
"Charcot-Marie-Tooth Neuropathy Type 1",
"Charcot-Marie-Tooth Neuropathy Type 4",
"Charcot-Marie-Tooth Neuropathy... | Charcot-Marie-Tooth Hereditary Neuropathy Overview | Thomas D Bird | Summary The purpose of this overview is to: Describe the Review the Provide an Review Inform | ## Clinical Characteristics of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy
Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN).
Individuals with CMT manifest symmet... | [] | 28/9/1998 | 28/6/2018 | 23/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cmt1 | cmt1 | [
"CMT1",
"HMSN1",
"Hereditary Motor and Sensory Neuropathy 1",
"CMT1",
"HMSN1",
"Hereditary Motor and Sensory Neuropathy 1",
"CMT1B",
"CMT1C",
"CMT1A",
"CMT1D",
"CMT1E",
"CMT1F/2E",
"E3 SUMO-protein ligase EGR2",
"Lipopolysaccharide-induced tumor necrosis factor-alpha factor",
"Myelin pro... | Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Thomas D Bird | Summary Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected indi... | CMT1A
CMT1B
CMT1C
CMT1D
CMT1E
CMT2E/1F
For synonyms and outdated names see
• CMT1A
• CMT1B
• CMT1C
• CMT1D
• CMT1E
• CMT2E/1F
## Diagnosis
Charcot-Marie-Tooth neuropathy type (CMT1) is diagnosed in individuals with the following:
A progressive peripheral motor and sensory neuropathy
Slow nerve conductio... | [] | 31/8/1998 | 18/12/2014 | 26/3/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cmt2 | cmt2 | [
"Charcot-Marie-Tooth Disease, Axonal Type",
"CMT2",
"Hereditary Motor and Sensory Neuropathy 2",
"HMSN2",
"Charcot-Marie-Tooth Disease, Axonal Type",
"HMSN2",
"Hereditary Motor and Sensory Neuropathy 2",
"CMT2",
"CMT2B",
"CMT2B1",
"CMT2B2",
"CMT2C",
"GARS-Associated Axonal Neuropathy",
"CM... | Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Thomas D Bird | Summary Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Perip... | ## Diagnosis
A progressive peripheral motor and sensory neuropathy
Nerve conduction velocities (NCVs) that are usually within the normal range (>40-45 m/s), although occasionally in a mildly abnormal range (30-40 m/s)
EMG testing that shows evidence of an axonal neuropathy with such findings as positive waves, polyp... | [] | 24/9/1998 | 24/3/2016 | 14/4/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cmt2a | cmt2a | [
"MFN2 Charcot-Marie-Tooth Neuropathy",
"MFN2-HMSN",
"MFN2-HMSN",
"MFN2 Charcot-Marie-Tooth Neuropathy",
"Mitofusin-2",
"MFN2",
"MFN2 Hereditary Motor and Sensory Neuropathy"
] | Stephan Züchner | Summary Molecular genetic testing establishes the diagnosis of Approximately 90% of Once the | ## Diagnosis
Formal diagnostic criteria for
Onset before age ten years (although a wide range has been reported)
Involvement of the lower extremities earlier and more severely than the upper extremities
Involvement of the distal upper extremities as the neuropathy progresses
Motor deficits more prominent than se... | [] | 18/2/2005 | 14/5/2020 | 27/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cmt2c | cmt2c | [
"Charcot-Marie-Tooth Neuropathy Type 2C (CMT2C)",
"Scapuloperoneal Spinal Muscular Atrophy (SPSMA)",
"Congenital Distal Spinal Muscular Atrophy (CDSMA)",
"Familial Digital Arthropathy-Brachydactyly",
"Autosomal Dominant Brachyolmia",
"Spondylometaphyseal Dysplasia, Kozlowski Type",
"Spondyloepiphyseal D... | Autosomal Dominant | Brett A McCray, Alice Schindler, Julie E Hoover-Fong, Charlotte J Sumner | Summary The autosomal dominant The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Congenital distal spinal muscular atrophy The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, ... | Charcot-Marie-Tooth neuropathy type 2C (CMT2C)
Scapuloperoneal spinal muscular atrophy (SPSMA)
Congenital distal spinal muscular atrophy (CDSMA)
Familial digital arthropathy-brachydactyly
Autosomal dominant brachyolmia
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloepiphyseal dysplasia, Maroteaux type
Par... | [] | 15/5/2014 | 17/9/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cmt2d | cmt2d | [
"GARS1 Adolescent- or Early Adult-Onset Hereditary Motor/Sensory Neuropathy (GARS1-HMSN)",
"Distal Spinal Muscular Atrophy V (dSMA-V)",
"GARS1 Infantile-Onset Spinal Muscular Atrophy (GARS1-iSMA)",
"Glycine--tRNA ligase",
"GARS1",
"GARS1-Associated Axonal Neuropathy"
] | Rebecca Markovitz, Rajarshi Ghosh, Timothy Lotze, Lorraine Potocki | Summary The phenotypic spectrum of The diagnosis of Once the | For synonyms and outdated names see
For other genetic causes of these phenotypes see
## Diagnosis
No consensus clinical diagnostic criteria for
Typically, infantile onset of respiratory distress, poor feeding, and muscle weakness, with distal weakness greater than proximal; however, some children may present with... | [
"A Abe, K Hayasaka. The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.. J Hum Genet. 2009;54:310-2",
"A Antonellis, RE Ellsworth, N Sambuughin, I Puls, A Abel, SQ Lee-Lin, A Jordanova, I Kremensky, K Christodoulou, LT Middleton, K Sivakumar, V Ionasescu, B Funalot, JM Vance,... | 8/11/2006 | 22/7/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cmt2e | cmt2e | [
"CMT2E/1F",
"CMT 2E/1F",
"Neurofilament light polypeptide",
"NEFL",
"CMT2E/1F"
] | Charcot-Marie-Tooth Neuropathy Type 2E/1F – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Peter De Jonghe, Albena K Jordanova | Summary Charcot-Marie-Tooth neuropathy type 2E/1F (CMT2E/1F) is characterized by a progressive peripheral motor and sensory neuropathy with variable clinical and electrophysiologic expression. Disease onset ranges from the first to the fifth decade of life; in some cases disease onset can be in infancy. Affected indiv... | ## Diagnosis
Charcot-Marie-Tooth neuropathy type 2E/1F (CMT2E/1F) is suspected in individuals with a progressive peripheral motor and sensory neuropathy.
To date, deletion or duplication of exons or of the entire gene has not been reported.
Molecular Genetic Testing Used in Charcot-Marie-Tooth Neuropathy Type 2E/1F
... | [
"A Abe, C Numakura, K Saito, H Koide, N Oka, A Honma, Y Kishikawa, K Hayasaka. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.. J Hum Genet. 2009;54:94-7",
"A Al-Chalabi, PM Andersen, P Nilsson, B Chioza, JL Andersson, C... | 1/4/2004 | 27/10/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cmt4 | cmt4 | [
"CMT4",
"CMT 4",
"CMT4",
"Charcot-Marie-Tooth Neuropathy Type 4A (CMT4A)",
"Charcot-Marie-Tooth Neuropathy Type 4B1 (CMT4B1)",
"Charcot-Marie-Tooth Neuropathy Type 4B2 (CMT4B2)",
"Charcot-Marie-Tooth Neuropathy Type 4C",
"Charcot-Marie-Tooth Neuropathy Type 4D (CMT4D)",
"Charcot-Marie-Tooth Neuropat... | Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Thomas D Bird | Summary Charcot-Marie-Tooth neuropathy type 4 (CMT4) is a group of progressive motor and sensory axonal and demyelinating neuropathies that are distinguished from other forms of CMT by autosomal recessive inheritance. Affected individuals have the typical CMT phenotype of distal muscle weakness and atrophy associated ... | CMT4A
CMT4B1
CMT4B2
CMT4B3
CMT4C
CMT4D
CMT4E
CMT4F
CMT4G
CMT4H
CMT4J
For synonyms and outdated names see
• CMT4A
• CMT4B1
• CMT4B2
• CMT4B3
• CMT4C
• CMT4D
• CMT4E
• CMT4F
• CMT4G
• CMT4H
• CMT4J
## Diagnosis
Charcot-Marie-Tooth neuropathy type 4 (CMT4)
Progressive weakness of the distal musc... | [
"N Ammar, E Nelis, L Merlini, N Barisic, R Amouri, C Ceuterick, JJ Martin, V Timmerman, F Hentati, P De Jonghe. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.. Neuromuscul Disord 2003;13:720-8",
"M Auer-Grumbach, C Fischer, L Papić, E John, B Plecko, RE Bittner, G... | 24/9/1998 | 20/8/2015 | 14/4/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cmt4c | cmt4c | [
"Charcot-Marie-Tooth Disease Type 4C",
"CMT4C",
"SH3TC2-HMSN",
"SH3TC2-Related Charcot-Marie-Tooth Neuropathy",
"Charcot-Marie-Tooth Disease Type 4C (CMT4C)",
"SH3TC2-HMSN",
"SH3TC2-Related Charcot-Marie-Tooth Neuropathy",
"SH3 domain and tetratricopeptide repeat-containing protein 2",
"SH3TC2",
"... | Hamid Azzedine, Mustafa A Salih | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Early and severe scoliosis, the presenting sign in most individuals
Neuropathy, usually developing in the first decade or adolescence, but occasionally manifesting as delay in onset of independent ambulation in early childhood
Slowly progressive neuropath... | [
"RT Abresch, GT Carter, MP Jensen, DD Kilmer. Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease.. Am J Hosp Palliat Care. 2002;19:39-48",
"JF Antognini. Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases.. Can J Anaesth 1992;39:398-400",
"H Azzedine... | 31/3/2008 | 11/3/2021 | 6/7/2010 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cmt4h | cmt4h | [
"Charcot-Marie-Tooth Disease Type 4H",
"CMT4H",
"CMT4H",
"Charcot-Marie-Tooth Disease Type 4H",
"CMT 4H",
"FYVE, RhoGEF and PH domain-containing protein 4",
"FGD4",
"Charcot-Marie-Tooth Neuropathy Type 4H (CMT4H)"
] | Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Valérie Delague | Summary Charcot-Marie-Tooth neuropathy type 4H (CMT4H) is a demyelinating form of CMT that is characterized by early onset (usually before age 3 years; range: birth to age 10 years) and slow progression. The degree of distal muscle weakness and amyotrophy varies between affected individuals as does the presence or abs... | ## Diagnosis
Formal diagnostic guidelines for Charcot-Marie-Tooth type 4H (CMT4H) do not exist.
Note: Although the CMT Neuropathy Score (CMTNS) and CMTNS version 2 (CMTNS2) are widely used in the diagnosis of CMT [
Early onset. The imprecise retrospective data available indicate that symptoms typically appear before... | [
"J Baets, T Deconinck, E De Vriendt, M Zimoń, L Yperzeele, K Van Hoorenbeeck, K Peeters, R Spiegel, Y Parman, B Ceulemans, P Van Bogaert, A Pou-Serradell, G Bernert, A Dinopoulos, M Auer-Grumbach, SL Sallinen, GM Fabrizi, F Pauly, P Van den Bergh, B Bilir, E Battaloglu, RE Madrid, D Kabzińska, A Kochanski, H Topalo... | 8/8/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cmt4j | cmt4j | [
"Charcot-Marie-Tooth Disease Type 4J",
"CMT4J",
"CMT4J",
"Charcot-Marie-Tooth Disease Type 4J",
"CMT 4J",
"Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4J",
"Polyphosphoinositide phosphatase",
"FIG4",
"Charcot-Marie-Tooth Neuropathy Type 4J (CMT4J)"
] | Charcot-Marie-Tooth Neuropathy Type 4J – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Jun Li | Summary Charcot-Marie-Tooth neuropathy type 4J (CMT4J) is a peripheral neuropathy characterized by childhood onset (manifest as clumsy gait) with accelerated limb weakness and muscle atrophy during the teen or adult years that is typically asymmetric and can involve both distal and proximal limb muscles. Although sens... | ## Diagnosis
No diagnostic criteria have been established for Charcot-Marie-Tooth neuropathy type 4J (CMT4J).
Mild motor symptoms during childhood, such as clumsy gait or difficulties with sports in school
Accelerated limb weakness and muscle atrophy during the teen years or adulthood
Asymmetric involvement that ma... | [
"PM Campeau, GM Lenk, JT Lu, Y Bae, L Burrage, P Turnpenny, J Román Corona-Rivera, L Morandi, M Mora, H Reutter, AT Vulto-van Silfhout, L Faivre, E Haan, RA Gibbs, MH Meisler, BH Lee. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.. Am J Hum Genet. 2013;92:781-91",
"G... | 14/11/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cmtc | cmtc | [
"Van Lohuizen Syndrome",
"Van Lohuizen Syndrome",
"Guanine nucleotide-binding protein subunit alpha-11",
"GNA11",
"Isolated and Classic Cutis Marmorata Telangiectatica Congenita (CMTC)"
] | Isolated and Classic Cutis Marmorata Telangiectatica Congenita | Joan Tamburro, Elias I Traboulsi, Millan S Patel | Summary Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are characterized by congenital skin changes including erythematous-to-violaceous, reticulated, net-like or marbled-appearing patches of skin that do not mostly or completely resolve with warming or any other acute intervention. Individuals w... | ## Diagnosis
Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are considered capillary malformations by the International Society for the Study of Vascular Anomalies. Clinically, CMTC is diagnosed by characteristic congenital erythematous-to-violaceous net-like or marbled areas of skin (
Isolated... | [] | 9/6/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cmtx | cmtx | [
"CMTX1",
"Gap junction beta-1 protein",
"GJB1",
"GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes"
] | Charles K Abrams | Summary Less commonly, initial manifestations in some affected individuals are stroke-like episodes (acute fulminant episodes of reversible CNS dysfunction). The diagnosis of CMT1X is established in a male by identification of a hemizygous CMT1X is inherited in an X-linked manner. Affected males transmit the | ## Diagnosis
Occasionally fixed CNS abnormalities
Acute, self-limited episodes of transient neurologic dysfunction, especially weakness and dysarthria
Forearm NCVs are typically in the "intermediate" range of 30-40 m/sec for males; in females NCVs from 30-60 m/sec are seen [
Median nerve conductions are more seve... | [] | 18/6/1998 | 20/2/2020 | 25/4/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
cmtx5 | cmtx5 | [
"CMTX5",
"Rosenberg-Chutorian Syndrome",
"CMTX5",
"Rosenberg-Chutorian Syndrome",
"CMT X5",
"Ribose-phosphate pyrophosphokinase 1",
"PRPS1",
"Charcot-Marie-Tooth Neuropathy X Type 5"
] | Charcot-Marie-Tooth Neuropathy X Type 5 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Jong-Won Kim, Hee-Jin Kim | Summary X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of Diagnosis is based on clinical findings, family history consistent with X-linked inheritance, and identification of a pathogenic variant in CMTX5 is inherited in an X-linked manner. Carrier women have a 50% chance of transmitting t... | ## Diagnosis
X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of
Motor nerve conduction velocities (NCVs) of affected males reveal delayed distal latencies and decreased amplitudes with relatively normal velocities (median motor NCV ≥38 m/s), consistent with an axonal neuropathy.
Compou... | [
"MA Becker. Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells.. Prog Nucleic Acid Res Mol Biol 2001;69:115-48",
"FS Cowchock, SW Duckett, LJ Streletz, LJ Graziani, LG Jackson. X-linked motor-sensory neuropathy type-II with deafness and mental retard... | 26/8/2008 | 6/6/2013 | 18/1/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cockayne | cockayne | [
"Cockayne Syndrome Type II",
"Cockayne Syndrome Type I",
"Cockayne Syndrome Type III",
"Cerebrooculofacioskeletal (COFS) Syndrome",
"DNA excision repair protein ERCC-6",
"DNA excision repair protein ERCC-8",
"ERCC6",
"ERCC8",
"Cockayne Syndrome"
] | Cockayne Syndrome | Vincent Laugel | Summary Cockayne syndrome (referred to as CS in this CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progres... | CS type I
CS type II
CS type III
Cerebrooculofacioskeletal (COFS) syndrome
For synonyms and outdated names see
• CS type I
• CS type II
• CS type III
• Cerebrooculofacioskeletal (COFS) syndrome
## Diagnosis
Formal clinical diagnostic criteria originally proposed for Cockayne syndrome (CS) type I [
Cockayne s... | [] | 28/12/2000 | 29/8/2024 | 24/9/2003 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
coffin-siris | coffin-siris | [
"Fifth Digit Syndrome",
"Fifth Digit Syndrome",
"AT-rich interactive domain-containing protein 1A",
"AT-rich interactive domain-containing protein 1B",
"AT-rich interactive domain-containing protein 2",
"BRD4-interacting chromatin-remodeling complex-associated protein",
"SWI/SNF complex subunit SMARCC2"... | Coffin-Siris Syndrome | Samantha Schrier Vergano, Gijs Santen, Dagmar Wieczorek, Naomichi Matsumoto | Summary Classically, Coffin-Siris syndrome (CSS) was characterized by specific dysmorphic features (coarse facies, sparse scalp hair, thick eyebrows with long lashes, wide nasal bridge with broad nasal tip, anteverted nares with thick ala nasi, wide mouth with thick, everted vermilion of the upper and lower lips, and h... | ## Diagnosis
No consensus clinical diagnostic criteria for Coffin-Siris syndrome (CCS) have been published.
CSS
Facial features (see
Coarse facies
Sparse scalp hair, particularly in the temporal regions, especially in infancy
Thick eyebrows
Long eyelashes
Wide nasal bridge with broad nasal tip
Anteverted nar... | [] | 4/4/2013 | 15/5/2025 | 12/8/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
cohen | cohen | [
"Intermembrane lipid transfer protein VPS13B",
"VPS13B",
"Cohen Syndrome"
] | Cohen Syndrome | Heng Wang, Marni J Falk, Christine Wensel, Elias I Traboulsi | Summary Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high my... | ## Diagnosis
Cohen syndrome
Retinal dystrophy appearing by mid-childhood
Progressive high myopia
Acquired microcephaly
Non-progressive intellectual disability and global developmental delay
Hypotonia
Joint hypermobility
Typical Cohen syndrome facial gestalt: thick hair and eyebrows, long eyelashes, wave-shaped ... | [] | 29/8/2006 | 21/7/2016 | 24/10/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
col4a1-dis | col4a1-dis | [
"Autosomal Dominant Familial Porencephaly",
"Autosomal Dominant Brain Small-Vessel Disease with Hemorrhage",
"Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps (HANAC) Syndrome",
"Tortuosity of Retinal Arteries",
"Nonsyndromic Autosomal Dominant Congenital Cataract",
"Collagen alpha-1(I... | Emmanuelle Plaisier, Pierre Ronco | Summary The spectrum of Diagnosis is based on clinical findings and molecular genetic testing of | Autosomal dominant familial porencephaly
Autosomal dominant brain small-vessel disease with hemorrhage
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome
Tortuosity of retinal arteries
Nonsyndromic autosomal dominant congenital cataract
For other genetic causes of these phenotype... | [
"S Alamowitch, E Plaisier, P Favrole, C Prost, Z Chen, T Van Agtmael, B Marro, P Ronco. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.. Neurology 2009;73:1873-82",
"X Ayrignac, C Carra-Dalliere, N Menjot de Champfleur, C Denier, P Aubourg, C Bellesme, G Castelnovo, J Pelletier, B Audoin, E... | 25/6/2009 | 7/7/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
collagen-2 | collagen-2 | [
"Achondrogenesis Type II",
"Stickler Syndrome Type 1",
"Kniest Dysplasia",
"Spondyloepiphyseal Dysplasia Congenita (SEDC)",
"Platyspondylic Dysplasia, Torrance Type",
"Spondyloperipheral Dysplasia",
"Spondyloepimetaphyseal Dysplasia (SEMD), Strudwick Type",
"Hypochondrogenesis",
"Spondyloepiphyseal ... | Type II Collagen Disorders Overview | Pernille Axél Gregersen, Ravi Savarirayan | Summary The purpose of this Describe the Provide an Review the Review Inform | ## Clinical Characteristics of Type II Collagen Disorders
Type II collagen is an essential component of the cartilage extracellular matrix, and of major importance in endochondral bone formation, growth, and normal joint function. It is also necessary for normal development and function of the eye and the inner ear. ... | [] | 25/4/2019 | 24/10/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
coq10-def | coq10-def | [
"Primary Ubiquinone Deficiency",
"Coenzyme Q Deficiency",
"CoQ Deficiency",
"Primary CoQ10 Deficiency",
"Ubiquinone Deficiency",
"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
"All trans-polyprenyl-diphosphate synthase PDSS1",
"All trans-polyprenyl-diphosphate synthase PDSS2",
"A... | Primary Coenzyme Q | Leonardo Salviati, Eva Trevisson, Caterina Agosto, Mara Doimo, Placido Navas | Summary The purpose of this overview is to: Briefly describe the Increase the awareness of clinicians regarding Review the Provide an Review Inform | ## Clinical Characteristics of Primary Coenzyme Q
Primary deficiency of coenzyme Q
Primary CoQ
The manifestations of primary CoQ
The broad age of onset of primary CoQ
The
The age of onset and clinical severity range from fatal neonatal encephalopathy with hypotonia [
Individuals with
Distal motor neuropathy ha... | [] | 26/1/2017 | 8/6/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
costello | costello | [
"GTPase HRas",
"HRAS",
"HRAS-Related Costello Syndrome"
] | Karen W Gripp, K Nicole Weaver | Summary While the majority of individuals with The diagnosis of Costello syndrome is established in a proband with suggestive clinical findings and a heterozygous Costello syndrome is an autosomal dominant disorder typically caused by a | ## Diagnosis
No consensus clinical diagnostic criteria for
Costello syndrome
On ultrasound examination:
Increased nuchal thickness
Polyhydramnios (>90%)
Characteristic ulnar deviation of the wrists
Short humeri and femurs
Fetal tachycardia (various forms of atrial tachycardia)
Preterm delivery
Severe post... | [] | 29/8/2006 | 21/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
cpt1a | cpt1a | [
"CPT1A Deficiency",
"Hepatic Carnitine Palmitoyltransferase 1 Deficiency",
"CPT1A Deficiency",
"Hepatic Carnitine Palmitoyltransferase 1 Deficiency",
"Carnitine O-palmitoyltransferase 1, liver isoform",
"CPT1A",
"Carnitine Palmitoyltransferase 1A Deficiency"
] | Carnitine Palmitoyltransferase 1A Deficiency | Kristen Lee, Amanda Pritchard, Ayesha Ahmad | Summary Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of manifestations are usually rapid. The recognized present... | ## Diagnosis
No consensus clinical diagnostic criteria for carnitine palmitoyltransferase 1A (CPT1A) deficiency have been published.
Cutoffs for C0 and C0:C16+C18 vary by state. If the NBS is abnormal, follow-up acylcarnitine profile and measurement of plasma-free and total carnitine is recommended. However, since ac... | [] | 27/7/2005 | 20/2/2025 | 24/3/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
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