Druvith/transformed_medDataset huggingface dataset:
What causes Angelman syndrome ? 
 What causes Angelman syndrome? Angelman syndrome is caused by a loss of function of a gene called UBE3A on chromosome 15. The exact mechanism that causes this loss of function is complex. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother is active. This parent-specific gene activation is known as genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain. Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases, Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. In a small percentage of cases, a person with Angelman syndrome inherits two copies of chromosome 15 from his or her father, instead of one copy from each parent. This is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15. The cause of Angelman syndrome is unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the condition in these individuals.
Is Angelman syndrome inherited ? 
 How might Angelman syndrome be inherited? Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. In these instances, people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.
What are the symptoms of SLC4A1-associated distal renal tubular acidosis ? 
 What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. 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) Autosomal dominant inheritance - Autosomal recessive inheritance - Distal renal tubular acidosis - Failure to thrive - Hypocalcemia - Metabolic acidosis - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - Rickets - 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.
What is (are) Rhabdoid tumor ? 
 Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdomen mass, peripheral nerve palsy). In about 90% of the cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene and in rare cases by a mutation in the SMARCA4 gene. No standard care exists for RT although there are a lot of studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings they are considered now identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors.
What are the symptoms of Rhabdoid tumor ? 
 What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid 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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nausea and vomiting 90% Neoplasm of the nervous system 90% Abdominal pain 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Abnormality of the skin 50% Behavioral abnormality 50% Cerebral palsy 50% Cranial nerve paralysis 50% Hematuria 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Hypertension 50% Incoordination 50% Limitation of joint mobility 50% Lymphadenopathy 50% Macrocephaly 50% Migraine 50% Muscle weakness 50% Neoplasm of the liver 50% Ophthalmoparesis 50% Renal neoplasm 50% Respiratory insufficiency 50% Sarcoma 50% Seizures 50% Sleep disturbance 50% Weight loss 50% Anemia 7.5% Cerebral calcification 7.5% Hypercalcemia 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Choroid plexus carcinoma - Medulloblastoma - Neoplasm of the central nervous system - 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.
What is (are) Dendritic cell tumor ? 
 A dendritic cell tumor develops from the cells of the immune system.  This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize).  There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise.  The symptoms and severity of the condition depend on the subtype and location of the tumor.  Treatment may include surgery, radiation therapy, and/or chemotherapy.
What are the symptoms of Leber congenital amaurosis 2 ? 
 What are the signs and symptoms of Leber congenital amaurosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blindness - Cataract - Cerebellar vermis hypoplasia - Decreased light- and dark-adapted electroretinogram amplitude - Eye poking - Fundus atrophy - Intellectual disability - Keratoconus - Photophobia - Pigmentary retinopathy - Reduced visual acuity - 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.
What is (are) Monoclonal mast cell activation syndrome ? 
 Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria pigmentosa. Symptoms may be triggered by a number of factors, including eating, exertion, environmental conditions, emotional stress, or insect stings. It is caused by a very small change (mutation) in the KIT gene which results in a defect of the mast cells. Treatment may include antihistamines and other medications, as needed.
What is (are) Sialidosis type I ? 
 Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.
What are the symptoms of Sialidosis type I ? 
 What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. 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 macula 90% Aminoaciduria 90% Coarse facial features 90% Delayed skeletal maturation 90% Gait disturbance 90% Hyperkeratosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Retinopathy 90% Scoliosis 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Splenomegaly 90% Thick lower lip vermilion 90% Visual impairment 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Decreased nerve conduction velocity 50% EEG abnormality 50% Frontal bossing 50% Hernia 50% Morphological abnormality of the central nervous system 50% Muscular hypotonia 50% Skeletal muscle atrophy 50% Tremor 50% Cataract 7.5% Kyphosis 7.5% Ascites - Autosomal recessive inheritance - Bone-marrow foam cells - Cardiomegaly - Cardiomyopathy - Cherry red spot of the macula - Dysmetria - Dysostosis multiplex - Epiphyseal stippling - Facial edema - Hepatomegaly - Hydrops fetalis - Hyperreflexia - Increased urinary O-linked sialopeptides - Inguinal hernia - Intellectual disability - Muscle weakness - Myoclonus - Progressive visual loss - Proteinuria - Slurred speech - Urinary excretion of sialylated oligosaccharides - Vacuolated lymphocytes - 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.
What are the treatments for Sialidosis type I ? 
 How might sialidosis type I be treated? There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment with anticonvulsant medications.
What is (are) Tyrosinemia type 1 ? 
 Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.
What are the symptoms of Tyrosinemia type 1 ? 
 What are the signs and symptoms of Tyrosinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Abnormality of bone mineral density 7.5% Abnormality of the spleen 7.5% Hepatomegaly 7.5% Abnormal bleeding - Abnormality of the abdominal wall - Acute hepatic failure - Ascites - Autosomal recessive inheritance - Cirrhosis - Elevated alpha-fetoprotein - Elevated hepatic transaminases - Elevated urinary delta-aminolevulinic acid - Enlarged kidneys - Episodic peripheral neuropathy - Failure to thrive - Gastrointestinal hemorrhage - Glomerulosclerosis - Hepatocellular carcinoma - Hypermethioninemia - Hypertrophic cardiomyopathy - Hypertyrosinemia - Hypoglycemia - Hypophosphatemic rickets - Nephrocalcinosis - Pancreatic islet-cell hyperplasia - Paralytic ileus - Periodic paralysis - Renal Fanconi syndrome - Renal insufficiency - Splenomegaly - 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.
What are the treatments for Tyrosinemia type 1 ? 
 How might tyrosinemia type 1 be treated? There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. Early diagnosis and prompt treatment are essential for an improved prognosis. Some individuals require a liver transplant if their liver disease is already advanced before treatment begins. Detailed information on the treatment of tyrosinemia type 1 is available from GeneReviews.
What are the symptoms of Microphthalmia mental deficiency ? 
 What are the signs and symptoms of Microphthalmia mental deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia mental deficiency. 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) Joint hypermobility 5% Overlapping toe 5% Agenesis of corpus callosum - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Congenital cataract - Cryptorchidism - Deeply set eye - External genital hypoplasia - Facial hypertrichosis - Failure to thrive - Hyperreflexia - Hypoplasia of the corpus callosum - Intellectual disability - Kyphoscoliosis - Macrotia - Microcephaly - Microcornea - Microphthalmia - Muscular hypotonia - Optic atrophy - Osteoporosis - Ptosis - Short stature - Spastic diplegia - 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.
What is (are) Livedoid vasculopathy ? 
 Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.
What are the treatments for Livedoid vasculopathy ? 
 How might livedoid vasculopathy be treated? Treatment of livedoid vasculopathy aims to reduce pain, ulceration and scarring. General treatment measures may involve protecting the skin from injury and irritants, removing dead tissue from the ulcers, treating infection with antibiotics, elevating legs, compression therapy, and avoiding smoking and hormonal contraceptives. Treatments will also be given to address any co-occurring conditions such as lupus or thrombophilia. Drugs that aim to improve blood flow or prevent blood clotting may also be considered. Examples of these treatments, include: Antiplatelet agents (e.g. aspirin, dipyridamole) Fibrinolytic agents (e.g. danazol, tissue plasminogen activator) Anticoagulant agents (e.g. subcutaneous heparin injections, oral warfarin) Pentoxifylline Low-dose danazol (200 mg/day orally) Hyperbaric oxygen Pulsed intravenous immunoglobulin Iloprost Ketanserin Psoralen plus ultraviolet A (PUVA) therapy Niacin (nicotinic acid) Sulfapyridine Guanethidine Currently there are no established guidelines for treatment. Decisions for treatment are made based on the clinicians clinical experience and specific patient characteristics. We strongly recommend that you discuss this information and your treatment options further with a trusted healthcare professional.