falan42/medcuad_data huggingface dataset:
Topic: Albright's hereditary osteodystrophy
Question: What causes Albright's hereditary osteodystrophy ?
Answer: What causes Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is caused by mutations in the GNAS gene. Albright's hereditary osteodystrophy is transmitted as an autosomal dominant trait. The hormone resistance associated with Albright's hereditary osteodystrophy, in particular resistance to parathyroid hormone, depends on whether the mutated allele comes from the father or the mother. Within a family, some patients have isolated features of Albright's hereditary osteodystrophy without hormone resistance (called pseudopseudohypoparathyroidism) and some show the complete clinical picture. This is due to parental imprinting of the GNAS gene. Thus, in individuals with a mutated maternal GNAS allele, the disease is fully expressed while in individuals with a mutated paternal allele the disease is partially expressed and hormone resistance is not present.
(Source: GARD)
Topic: Albright's hereditary osteodystrophy
Question: Is Albright's hereditary osteodystrophy inherited ?
Answer: How is progressive osseous heteroplasia 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. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting. The GNAS gene has a complex genomic imprinting pattern. In some cells of the body the maternal copy of the gene is active, while in others the paternal copy is active. Progressive osseous heteroplasia occurs when mutations affect the paternal copy of the gene. Thus, progressive heteroplasia is usually inherited from the father.
(Source: GARD)
Topic: Albright's hereditary osteodystrophy
Question: What are the treatments for Albright's hereditary osteodystrophy ?
Answer: How might Albright's hereditary osteodystrophy be treated? Treatment with calcium and vitamin D supplements help maintain normal levels of calcium in the blood. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lower the levels of phosphate. Examples of phosphate binders include calcium carbonate, calcium acetate, and sevelamer HCl.
(Source: GARD)
Topic: Moyamoya disease
Question: What is (are) Moyamoya disease ?
Answer: Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name "moyamoya" means "puff of smoke" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affects children, but can affect adults. Affected people are at increased risk for blood clots, strokes, and transient ischemic attacks (TIAs) which are frequently accompanied by seizures and muscular weakness, or paralysis on one side of the body. Affected people may also have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems. Researchers believe that Moyamoya disease is an inherited condition because it tends to run in families. Moyamoya syndrome is a related term that refers to cases of moyamoya disease that occur in association with other conditions or risk factors, such as neurofibromatosis, tuberculosis meningitis, sickle cell disease, leptospirosis, brain tumors, Sturge-Weber syndrome, and tuberous sclerosis.
(Source: GARD)
Topic: Moyamoya disease
Question: What are the symptoms of Moyamoya disease ?
Answer: What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya 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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 50% Cognitive impairment 50% Seizures 50% Ventriculomegaly 50% Autosomal recessive inheritance - Inflammatory arteriopathy - Telangiectasia - 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: Moyamoya disease
Question: What causes Moyamoya disease ?
Answer: What causes Moyamoya disease? In some families, risk for moyamoya disease is inherited. Changes in the RNF213 gene have been associated with the condition. There are other gene changes involved in moyamoya disease, that remain to be found. Factors such as infection or inflammation, likely also play a role in the condition's development in these families. Other people develop moyamoya syndrome or phenomenon. Moyamoya syndrome can occur in association with many different conditions, such as with infections, atherosclerosis (clogged arteries), blood disorders (for example sickle cell disease or beta thalassemia), vasculitis, autoimmune conditions (for example Lupus, thyroid disorders, Sneddon syndrome), connective tissue disorders (for example neurofibromatosis (NF) type 1 or Tuberous sclerosis), chromosome disorders, metabolic diseases, head trauma or radiation, brain tumors, and heart disease, to name a few.
(Source: GARD)
Topic: Moyamoya disease
Question: What are the treatments for Moyamoya disease ?
Answer: How might Moyamoya disease be treated? Treatment for Moyamoya disease should begin early in the disease course to prevent severe complications. Surgery is the mainstay of treatment, and is the only viable long-term treatment. There are several types of revascularization surgeries that can restore blood flow to the brain by opening narrowed blood vessels, or by bypassing blocked arteries. While children usually respond better to revascularization surgery than adults, the majority of individuals have no further strokes or related problems after surgery. No medication can stop the narrowing of the brain's blood vessels, or the development of the thin, fragile vessels that characterize the disease. However, medications are used to treat many of the symptoms of the disease, and are often an important part of the management. Medications may include aspirin (to prevent or reduce the development of small blood clots); calcium channel blockers (which may improve symptoms of headaches and reduce symptoms related to transient ischemic attacks); and anti-seizure medications (when needed for a seizure disorder). In a few cases, anticoagulants may be needed for people with unstable or frequent symptoms. However, they are not used long-term due to the risk of cerebral bleeding. Additional information about the treatment of Moyamoya disease is available on Medscape Reference's Web site. People interested in learning about specific treatment options for themselves or family members should speak with their health care provider.
(Source: GARD)
Topic: Hypertryptophanemia
Question: What is (are) Hypertryptophanemia ?
Answer: Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
(Source: GARD)
Topic: Hypertryptophanemia
Question: What are the symptoms of Hypertryptophanemia ?
Answer: What are the signs and symptoms of Hypertryptophanemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertryptophanemia. 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 dermatoglyphics 90% Neurological speech impairment 90% Abnormality of the elbow 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Abnormality of the knees 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Adducted thumb 50% Aplasia/Hypoplasia of the radius 50% Asymmetry of the thorax 50% Cognitive impairment 50% EEG abnormality 50% Hyperhidrosis 50% Hypertelorism 50% Joint hypermobility 50% Myopia 50% Strabismus 50% Ulnar deviation of finger 50% Aggressive behavior - Camptodactyly of finger - Emotional lability - Generalized joint laxity - Hypersexuality - Limited elbow extension - Pes planus - Tryptophanuria - Visual impairment - 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: Amelogenesis imperfecta nephrocalcinosis
Question: What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ?
Answer: What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. 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 calcium-phosphate metabolism 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Delayed eruption of teeth 90% Nephropathy 90% Amelogenesis imperfecta - Autosomal recessive inheritance - Dagger-shaped pulp calcifications - Delayed eruption of permanent teeth - Enuresis - Gingival overgrowth - Impaired renal concentrating ability - Nephrocalcinosis - Overgrowth - Polyuria - Renal insufficiency - 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: Charcot-Marie-Tooth disease type 2B
Question: What is (are) Charcot-Marie-Tooth disease type 2B ?
Answer: Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.
(Source: GARD)
Topic: Charcot-Marie-Tooth disease type 2B
Question: What are the symptoms of Charcot-Marie-Tooth disease type 2B ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. 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) Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Dystrophic toenail - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Peripheral axonal atrophy - Pes cavus - Pes planus - Steppage gait - 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: Cataract microcornea syndrome
Question: What are the symptoms of Cataract microcornea syndrome ?
Answer: What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea 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) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% 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: Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
Question: What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ?
Answer: What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. 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 dental enamel 90% Aminoaciduria 90% Cognitive impairment 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Microdontia 90% Short stature 90% Type II diabetes mellitus 90% Autosomal recessive inheritance - Diabetes mellitus - Hypoplasia of dental enamel - Lactic acidosis - Severe short stature - 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: Preaxial polydactyly type 2
Question: What are the symptoms of Preaxial polydactyly type 2 ?
Answer: What are the signs and symptoms of Preaxial polydactyly type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - 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: Lennox-Gastaut syndrome
Question: What is (are) Lennox-Gastaut syndrome ?
Answer: Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found. Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures.
(Source: GARD)
Topic: Lennox-Gastaut syndrome
Question: What are the symptoms of Lennox-Gastaut syndrome ?
Answer: What are the signs and symptoms of Lennox-Gastaut syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lennox-Gastaut 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 periventricular white matter - Abnormality of the teeth - Autosomal recessive inheritance - Depressed nasal bridge - Dysphagia - Enlarged cisterna magna - Epileptic encephalopathy - Frontotemporal cerebral atrophy - Gastroesophageal reflux - Generalized myoclonic seizures - Gingival overgrowth - High forehead - Hypoplasia of the corpus callosum - Intellectual disability, progressive - Intellectual disability, severe - Low-set ears - Macrocephaly - Posteriorly rotated ears - Progressive - Ptosis - Recurrent respiratory infections - Tented upper lip vermilion - 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)