sarnsrun/medquad huggingface dataset:
Topic: Hereditary hemorrhagic telangiectasia
Question: What are the symptoms of Hereditary hemorrhagic telangiectasia ?
Answer: What are the signs and symptoms of Hereditary hemorrhagic telangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Anemia - Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Brain abscess - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Clubbing - Cyanosis - Dyspnea - Fingerpad telangiectases - Gastrointestinal angiodysplasia - Gastrointestinal arteriovenous malformation - Gastrointestinal telangiectasia - Hematemesis - Hematochezia - Hepatic arteriovenous malformation - Heterogeneous - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Melena - Mesenteric artery aneurysm - Nail bed telangiectasia - Nasal mucosa telangiectasia - Palate telangiectasia - Polycythemia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Hereditary hemorrhagic telangiectasia
Question: What are the treatments for Hereditary hemorrhagic telangiectasia ?
Answer: Can hereditary hemorrhagic telangiectasia (HHT) be treated? Yes. Although there is not yet a way to prevent the telangiectases or AVMs associated with HHT, most can be treated once they occur. Management includes surveillance for undiagnosed AVMs and treatment for identified complications such as nosebleeds, gastrointestinal bleeding, anemia, pulmonary AVMs, cerebral AVMs, and hepatic AVMs. Treatment of nosebleeds with humidification and nasal lubricants, laser ablation, septal dermoplasty, or estrogen-progesterone therapy can prevent anemia and allow individuals with HHT to pursue normal activities. Individuals with GI bleeding are treated with iron therapy to maintain hemoglobin concentration; endoscopic application of a heater probe, bicap, or laser; surgical removal of bleeding sites; and estrogen-progesterone therapy. Iron replacement and red blood cell transfusions are used to treat anemia. Pulmonary AVMs with feeding vessels that exceed 3.0 mm in diameter require occlusion. Cerebral AVMs greater than 1.0 cm in diameter are treated by surgery, embolotherapy, and/or stereotactic radiosurgery. The treatment of choice for hepatic AVMs is liver transplantation. Blood-thinning medications (anticoagulants) and anti-inflammatory agents should be avoided. Some patients may need to take antibiotics during simple dental or surgical procedures. Individual patients and their doctors should make decisions regarding these measures, as necessary. Surveillance includes annual evaluations for anemia and neurologic conditions and re-evaluation for pulmonary AVMs every one to two years during childhood and every five years thereafter. Women with HHT considering pregnancy are screened and treated for pulmonary AVMs; if pulmonary AVMs are discovered during pregnancy, they are treated during the second trimester.
Source: GARD
Topic: Steatocystoma multiplex with natal teeth
Question: What are the symptoms of Steatocystoma multiplex with natal teeth ?
Answer: What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the skin 90% Hypermelanotic macule 50% Nephrolithiasis 50% Recurrent cutaneous abscess formation 50% Congenital, generalized hypertrichosis 7.5% Abnormality of the nail - Autosomal dominant inheritance - Natal tooth - Steatocystoma multiplex - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Question: What are the symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ?
Answer: What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arrhythmia 90% Brachydactyly syndrome 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Tapered finger 90% Aplasia/Hypoplasia of the distal phalanges of the toes 50% Cleft palate 50% Low anterior hairline 50% Reduced number of teeth 50% Abnormality of the metacarpal bones 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Glossoptosis 7.5% Microcephaly 7.5% Autosomal dominant inheritance - Pierre-Robin sequence - Posteriorly placed tongue - Submucous cleft hard palate - Syncope - Tachycardia - Ventricular extrasystoles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Neuhauser Daly Magnelli syndrome
Question: What are the symptoms of Neuhauser Daly Magnelli syndrome ?
Answer: What are the signs and symptoms of Neuhauser Daly Magnelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Daly Magnelli 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Brooke-Spiegler syndrome
Question: What is (are) Brooke-Spiegler syndrome ?
Answer: Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
Source: GARD
Topic: Brooke-Spiegler syndrome
Question: What are the symptoms of Brooke-Spiegler syndrome ?
Answer: What are the signs and symptoms of Brooke-Spiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooke-Spiegler 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Milia - Neoplasm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Chorea-acanthocytosis
Question: What is (are) Chorea-acanthocytosis ?
Answer: Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.
Source: GARD
Topic: Chorea-acanthocytosis
Question: Is Chorea-acanthocytosis inherited ?
Answer: How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GARD
Topic: Chorea-acanthocytosis
Question: What are the treatments for Chorea-acanthocytosis ?
Answer: How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year.
Source: GARD
Topic: CODAS syndrome
Question: What are the symptoms of CODAS syndrome ?
Answer: What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cataract 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Malar flattening 90% Midline defect of the nose 90% Overfolded helix 90% Short nose 90% Short stature 90% Abnormality of the hip bone 50% Joint hypermobility 50% Muscular hypotonia 50% Ptosis 50% Scoliosis 50% Sensorineural hearing impairment 50% Abnormality of the upper urinary tract 7.5% Extrahepatic biliary duct atresia 7.5% Nystagmus 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Vocal cord paresis 7.5% Anal atresia 5% Cryptorchidism 5% Omphalocele 5% Proximal placement of thumb 5% Rectovaginal fistula 5% Seizures 5% Atria septal defect - Atrioventricular canal defect - Autosomal recessive inheritance - Broad skull - Congenital cataract - Congenital hip dislocation - Coronal cleft vertebrae - Delayed ossification of carpal bones - Genu valgum - Hypoplasia of dental enamel - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Metaphyseal dysplasia - Polyhydramnios - Short humerus - Short metacarpal - Short phalanx of finger - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Accessory deep peroneal nerve
Question: What are the symptoms of Accessory deep peroneal nerve ?
Answer: What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Mowat-Wilson syndrome
Question: What is (are) Mowat-Wilson syndrome ?
Answer: Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.
Source: GARD
Topic: Mowat-Wilson syndrome
Question: What causes Mowat-Wilson syndrome ?
Answer: What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. It is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.
Source: GARD
Topic: Mowat-Wilson syndrome
Question: Is Mowat-Wilson syndrome inherited ?
Answer: How is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Source: GARD