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What are the symptoms of Holt-Oram syndrome ? | What are the signs and symptoms of Holt-Oram syndrome? People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present. Additional bone abnormalities may also be present, such as a missing thumb, a long thumb that looks li... | GARD | Holt-Oram syndrome |
What causes Holt-Oram syndrome ? | What causes Holt-Oram syndrome? Holt-Oram syndrome is caused by changes (mutations) in the TBX5 gene. This gene gives the body instructions for making a protein involved in the development of the heart and upper limbs before birth. In particular, this gene seems important for dividing the developing heart into four cha... | GARD | Holt-Oram syndrome |
Is Holt-Oram syndrome inherited ? | How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. In most cases, the mutation in the gene occurs for the first tim... | GARD | Holt-Oram syndrome |
How to diagnose Holt-Oram syndrome ? | How is Holt-Oram syndrome diagnosed? The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. A family history of this conditio... | GARD | Holt-Oram syndrome |
What are the treatments for Holt-Oram syndrome ? | How might Holt-Oram syndrome be treated? The treatment of Holt-Oram syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists such as pediatricians, surgeons, cardiologists, orthopedists, and/or other health care profes... | GARD | Holt-Oram syndrome |
What are the symptoms of Costocoracoid ligament congenitally short ? | What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | GARD | Costocoracoid ligament congenitally short |
What is (are) Cap myopathy ? | Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weak... | GARD | Cap myopathy |
What are the symptoms of Cone-rod dystrophy 6 ? | What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | GARD | Cone-rod dystrophy 6 |
What are the symptoms of Absent patella ? | What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | GARD | Absent patella |
What are the symptoms of Sener syndrome ? | What are the signs and symptoms of Sener syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sener syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | GARD | Sener syndrome |
What is (are) Combined oxidative phosphorylation deficiency 16 ? | Combined oxidative phosphorylation deficiency 16, also know as infantile hypertrophic cardiomyopathy, is characterized by decreased levels of mitochondrial complexes. The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye probl... | GARD | Combined oxidative phosphorylation deficiency 16 |
What are the symptoms of Combined oxidative phosphorylation deficiency 16 ? | What are the signs and symptoms of Combined oxidative phosphorylation deficiency 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined oxidative phosphorylation deficiency 16. If the information is available, the table below includes how often the symptom is seen in people with... | GARD | Combined oxidative phosphorylation deficiency 16 |
What are the symptoms of Macrocephaly mesodermal hamartoma spectrum ? | What are the signs and symptoms of Macrocephaly mesodermal hamartoma spectrum? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly mesodermal hamartoma spectrum. If the information is available, the table below includes how often the symptom is seen in people with this condit... | GARD | Macrocephaly mesodermal hamartoma spectrum |
What is (are) Hermansky-Pudlak syndrome ? | Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. So... | GARD | Hermansky-Pudlak syndrome |
What are the symptoms of Hermansky-Pudlak syndrome ? | What are the signs and symptoms of Hermansky-Pudlak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky-Pudlak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | GARD | Hermansky-Pudlak syndrome |
What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ? | What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser type. If the information is available, the table below includes how often the symptom is seen in people wi... | GARD | Scapuloperoneal syndrome, neurogenic, Kaeser type |
What is (are) LEOPARD syndrome ? | LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin; (E)lectrocardiographic conduction defects (abnormalities of th... | GARD | LEOPARD syndrome |
What are the symptoms of LEOPARD syndrome ? | What are the signs and symptoms of LEOPARD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | GARD | LEOPARD syndrome |
What is (are) Progressive bulbar palsy ? | Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Add... | GARD | Progressive bulbar palsy |
How to diagnose Progressive bulbar palsy ? | How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are ... | GARD | Progressive bulbar palsy |
What are the treatments for Progressive bulbar palsy ? | How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at Jo... | GARD | Progressive bulbar palsy |
What is (are) Pigment-dispersion syndrome ? | Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and... | GARD | Pigment-dispersion syndrome |
What is (are) Noonan-like syndrome with loose anagen hair ? | Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and ... | GARD | Noonan-like syndrome with loose anagen hair |
What are the symptoms of Noonan-like syndrome with loose anagen hair ? | What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. If the information is available, the table below includes how often the symptom is seen in people with this cond... | GARD | Noonan-like syndrome with loose anagen hair |
What is (are) Porokeratosis of Mibelli ? | Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of ... | GARD | Porokeratosis of Mibelli |
What are the symptoms of Porokeratosis of Mibelli ? | What are the signs and symptoms of Porokeratosis of Mibelli? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis of Mibelli. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | GARD | Porokeratosis of Mibelli |
What are the treatments for Porokeratosis of Mibelli ? | How might porokeratosis of Mibelli be treated? Treatment depends on the size, location, and aggressiveness of porokeratosis of Mibelli. Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as ne... | GARD | Porokeratosis of Mibelli |
What is (are) Hartnup disease ? | Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For... | GARD | Hartnup disease |
What are the symptoms of Hartnup disease ? | What are the signs and symptoms of Hartnup disease? The signs and symptoms of Hartnup disease may vary and include the following: Skin findings: sensitivity to sunlight Neurologic symptoms: ataxia, spasticity, headaches,and hypotonia Psychiatric symptoms: anxiety, emotional instability, mood changes Ocular findings... | GARD | Hartnup disease |
What are the symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type ? | What are the signs and symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism intellectual disability syndrome, Verloes type. If the information is available, the table below inc... | GARD | Male pseudohermaphroditism intellectual disability syndrome, Verloes type |
What is (are) Bilateral generalized polymicrogyria ? | Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movem... | GARD | Bilateral generalized polymicrogyria |
What is (are) Multisystemic smooth muscle dysfunction syndrome ? | Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the... | GARD | Multisystemic smooth muscle dysfunction syndrome |
What are the symptoms of Multisystemic smooth muscle dysfunction syndrome ? | What are the signs and symptoms of Multisystemic smooth muscle dysfunction syndrome? Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following : Congenital mydriasis (fixed dilated pupils) Patent Ductus Arteriosus Vascular problems including aneurysms Gastrintestinal problems W... | GARD | Multisystemic smooth muscle dysfunction syndrome |
What is (are) Osteopetrosis autosomal dominant type 1 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | GARD | Osteopetrosis autosomal dominant type 1 |
What are the symptoms of Osteopetrosis autosomal dominant type 1 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | GARD | Osteopetrosis autosomal dominant type 1 |
What are the symptoms of Welander distal myopathy, Swedish type ? | What are the signs and symptoms of Welander distal myopathy, Swedish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Welander distal myopathy, Swedish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | GARD | Welander distal myopathy, Swedish type |
What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ? | What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | GARD | Idiopathic CD4 positive T-lymphocytopenia |
What are the symptoms of Charcot-Marie-Tooth disease type 2H ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | GARD | Charcot-Marie-Tooth disease type 2H |
What is (are) Pityriasis rubra pilaris ? | Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, b... | GARD | Pityriasis rubra pilaris |
What are the symptoms of Pityriasis rubra pilaris ? | What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of t... | GARD | Pityriasis rubra pilaris |
What causes Pityriasis rubra pilaris ? | What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins th... | GARD | Pityriasis rubra pilaris |
What are the treatments for Pityriasis rubra pilaris ? | How might pityriasis rubra pilaris be treated? Treatment of pityriasis rubra pilaris (PRP) is mainly based on reports of patients' experiences. No controlled trials have been done, so the effectiveness and safety of treatments is unclear. Currently there are no treatments approved by the US Food and Drug Administration... | GARD | Pityriasis rubra pilaris |
What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ? | What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. If the information is available, the table below includes how often the symptom is seen ... | GARD | Cardiomyopathy dilated with woolly hair and keratoderma |
What is (are) Hemangioendothelioma ? | The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show "borderline" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas. Hemangioe... | GARD | Hemangioendothelioma |
What are the treatments for Hemangioendothelioma ? | How might hemangioendothelioma be treated? Treatment for hemangioendothelioma may depend on the type of hemangioendothelioma present in the affected individual and the risk of recurrence or metastases. In most reported cases, surgical excision (removal) of the mass has been the only treatment. For spindle cell hemangio... | GARD | Hemangioendothelioma |
What are the symptoms of Spastic paraplegia neuropathy poikiloderma ? | What are the signs and symptoms of Spastic paraplegia neuropathy poikiloderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia neuropathy poikiloderma. If the information is available, the table below includes how often the symptom is seen in people with this condit... | GARD | Spastic paraplegia neuropathy poikiloderma |
What are the symptoms of Immotile cilia syndrome, due to defective radial spokes ? | What are the signs and symptoms of Immotile cilia syndrome, due to defective radial spokes? The Human Phenotype Ontology provides the following list of signs and symptoms for Immotile cilia syndrome, due to defective radial spokes. If the information is available, the table below includes how often the symptom is seen ... | GARD | Immotile cilia syndrome, due to defective radial spokes |
What are the symptoms of Hemangiomatosis, familial pulmonary capillary ? | What are the signs and symptoms of Hemangiomatosis, familial pulmonary capillary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiomatosis, familial pulmonary capillary. If the information is available, the table below includes how often the symptom is seen in people with this ... | GARD | Hemangiomatosis, familial pulmonary capillary |
What is (are) Retroperitoneal fibrosis ? | Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs are blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause chronic unilateral obstructive uropathy or chronic bilatera... | GARD | Retroperitoneal fibrosis |
What are the symptoms of Retroperitoneal fibrosis ? | What are the symptoms of retroperitoneal fibrosis? Early symptoms of retroperitoneal fibrosis may include: Dull pain in the abdomen that increases with time Swelling of one leg Decreased circulation in the legs leading to pain and discoloration Late symptoms of retroperitoneal fibrosis may include: Decreased urine outp... | GARD | Retroperitoneal fibrosis |
What causes Retroperitoneal fibrosis ? | What causes retroperitoneal fibrosis? The cause of retroperitoneal fibrosis is unknown in many cases (idiopathic). Some cases occur in association with other factors, including: Asbestos exposure Smoking Neoplasms (tumor) Infections Trauma Radiotherapy Surgery Use of certain drugs | GARD | Retroperitoneal fibrosis |
What are the treatments for Retroperitoneal fibrosis ? | How might retroperitoneal fibrosis be treated? Treatment of retroperitoneal fibrosis may include: Corticosteroid therapy Tamoxifen Surgery Stents Corticosteroids are tried first. Dosing will be prescribed on a case by case basis, but doses often vary between 30 and 60 mg per day. Corticosteroids are then tapered slowly... | GARD | Retroperitoneal fibrosis |
What are the symptoms of Ichthyosis, acquired ? | What are the signs and symptoms of Ichthyosis, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | GARD | Ichthyosis, acquired |
What are the symptoms of Infantile axonal neuropathy ? | What are the signs and symptoms of Infantile axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | GARD | Infantile axonal neuropathy |
What is (are) Punctate inner choroidopathy ? | Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of perip... | GARD | Punctate inner choroidopathy |
What are the symptoms of Dopamine beta hydroxylase deficiency ? | What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine beta hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | GARD | Dopamine beta hydroxylase deficiency |
What is (are) Light chain deposition disease ? | Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposite... | GARD | Light chain deposition disease |
Is Light chain deposition disease inherited ? | Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined signifi... | GARD | Light chain deposition disease |
What are the symptoms of Gestational trophoblastic tumor ? | What are the signs and symptoms of Gestational trophoblastic tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Gestational trophoblastic tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | GARD | Gestational trophoblastic tumor |
What is (are) Neuroblastoma ? | Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5. It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). The symptoms of a n... | GARD | Neuroblastoma |
What are the symptoms of Neuroblastoma ? | What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | GARD | Neuroblastoma |
What is (are) Friedreich ataxia ? | Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity)... | GARD | Friedreich ataxia |
What are the symptoms of Friedreich ataxia ? | What are the signs and symptoms of Friedreich ataxia? Symptoms usually begin between the ages of 5 and 15 but can, on occasion, appear in adulthood or even as late as age 75. The first symptom to appear is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and the... | GARD | Friedreich ataxia |
What causes Friedreich ataxia ? | What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one g... | GARD | Friedreich ataxia |
Is Friedreich ataxia inherited ? | How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as... | GARD | Friedreich ataxia |
What are the symptoms of Chylomicron retention disease ? | What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | GARD | Chylomicron retention disease |
What are the symptoms of COASY Protein-Associated Neurodegeneration ? | What are the signs and symptoms of COASY Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for COASY Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the symptom is seen in people with this cond... | GARD | COASY Protein-Associated Neurodegeneration |
What is (are) Aicardi-Goutieres syndrome type 3 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les... | GARD | Aicardi-Goutieres syndrome type 3 |
What are the symptoms of Aicardi-Goutieres syndrome type 3 ? | What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | GARD | Aicardi-Goutieres syndrome type 3 |
What are the symptoms of Tuberous sclerosis, type 2 ? | What are the signs and symptoms of Tuberous sclerosis, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | GARD | Tuberous sclerosis, type 2 |
What is (are) Fallopian tube cancer ? | Fallopian tube cancer develops in the tubes that connect a woman's ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in an... | GARD | Fallopian tube cancer |
What are the symptoms of Progressive supranuclear palsy atypical ? | What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | GARD | Progressive supranuclear palsy atypical |
What are the symptoms of Juvenile myelomonocytic leukemia ? | What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | GARD | Juvenile myelomonocytic leukemia |
What are the symptoms of Radial ray hypoplasia choanal atresia ? | What are the signs and symptoms of Radial ray hypoplasia choanal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial ray hypoplasia choanal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | GARD | Radial ray hypoplasia choanal atresia |
What are the symptoms of Fukuyama type muscular dystrophy ? | What are the signs and symptoms of Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | GARD | Fukuyama type muscular dystrophy |
What is (are) Adenylosuccinase deficiency ? | Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and mov... | GARD | Adenylosuccinase deficiency |
What are the symptoms of Adenylosuccinase deficiency ? | What are the signs and symptoms of Adenylosuccinase deficiency? The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign of the condition... | GARD | Adenylosuccinase deficiency |
What are the treatments for Adenylosuccinase deficiency ? | How might adenylosuccinase deficiency be treated? At the current time, there are no effective therapies for the treatment of adenylosuccinase deficiency. Treatment is supportive based on the specific features. | GARD | Adenylosuccinase deficiency |
What is (are) Hypokalemic periodic paralysis ? | Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. Hypokalemic periodic paralysi... | GARD | Hypokalemic periodic paralysis |
What are the symptoms of Hypokalemic periodic paralysis ? | What are the signs and symptoms of Hypokalemic periodic paralysis? Hypokalemic periodic paralysis involves attacks of muscle weakness or loss of muscle movement (paralysis) that come and go. The weakness or paralysis is most commonly located in the shoulders and hips, affecting the muscles of the arms and legs. Muscles... | GARD | Hypokalemic periodic paralysis |
What causes Hypokalemic periodic paralysis ? | What causes hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles... | GARD | Hypokalemic periodic paralysis |
Is Hypokalemic periodic paralysis inherited ? | How is hypokalemic periodic paralysis inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | GARD | Hypokalemic periodic paralysis |
How to diagnose Hypokalemic periodic paralysis ? | How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potentia... | GARD | Hypokalemic periodic paralysis |
What are the symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? | What are the signs and symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial Membrane Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the sympto... | GARD | Mitochondrial Membrane Protein-Associated Neurodegeneration |
What are the symptoms of Limb-girdle muscular dystrophy type 2E ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | GARD | Limb-girdle muscular dystrophy type 2E |
What are the symptoms of Spastic paraplegia 51 ? | What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | GARD | Spastic paraplegia 51 |
What is (are) Herpes zoster oticus ? | Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. Herpes zoster oticus is caused by the spread of the virus ... | GARD | Herpes zoster oticus |
What are the treatments for Herpes zoster oticus ? | How might herpes zoster oticus be treated? Treatment for herpes zoster oticus typically includes anti-inflammatory drugs called steroids, which may reduce the inflammation of the nerves and help to ease the pain. Antiviral medications are usually prescribed, although whether antiviral medications are beneficial for tre... | GARD | Herpes zoster oticus |
What are the symptoms of Benign familial neonatal-infantile seizures ? | What are the signs and symptoms of Benign familial neonatal-infantile seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign familial neonatal-infantile seizures. If the information is available, the table below includes how often the symptom is seen in people with this cond... | GARD | Benign familial neonatal-infantile seizures |
What is (are) Lipoid proteinosis of Urbach and Wiethe ? | Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the sk... | GARD | Lipoid proteinosis of Urbach and Wiethe |
What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ? | What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | GARD | Lipoid proteinosis of Urbach and Wiethe |
What are the treatments for Lipoid proteinosis of Urbach and Wiethe ? | How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including cortico... | GARD | Lipoid proteinosis of Urbach and Wiethe |
What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ? | What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with... | GARD | Achondroplasia and Swiss type agammaglobulinemia |
What is (are) Sialadenitis ? | Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. T... | GARD | Sialadenitis |
What are the symptoms of Sialadenitis ? | What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth. | GARD | Sialadenitis |
What causes Sialadenitis ? | What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. ... | GARD | Sialadenitis |
What are the treatments for Sialadenitis ? | How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionall... | GARD | Sialadenitis |
What are the symptoms of Dystonia 1 ? | What are the signs and symptoms of Dystonia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up t... | GARD | Dystonia 1 |
What is (are) Congenital porphyria ? | Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection m... | GARD | Congenital porphyria |
What are the symptoms of Congenital porphyria ? | What are the signs and symptoms of Congenital porphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital porphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | GARD | Congenital porphyria |
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