bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Schimke X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke X-linked mental retardation 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) Choreoathetosis - External ophthalmoplegia - Growth delay - Hearing impairment - Intellectual disability - Postnatal microcephaly - Spasticity - X-linked 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.
What are the signs and symptoms of Arthrogryposis like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis like disorder. 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) Gait disturbance 90% Limitation of joint mobility 90% Patellar aplasia 90% Talipes 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the radius 7.5% Melanocytic nevus 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Skeletal muscle atrophy - 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 signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson 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 immune system physiology 90% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormal hair quantity 50% Abnormality of coagulation 50% Abnormality of the nail 50% Abnormality of the oral cavity 50% Anemia 50% Cerebral cortical atrophy 50% Generalized hyperpigmentation 50% Hypertonia 50% Hypopigmentation of hair 50% Ventriculomegaly 50% Abnormality of leukocytes 7.5% Bone marrow hypocellularity 7.5% Cerebral calcification 7.5% Incoordination 7.5% Neoplasm 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.
Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinsons disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or blackout. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.
What are the signs and symptoms of Mental retardation X-linked syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 7. 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) Cognitive impairment 90% Obesity 90% Tapered finger 90% Abnormal hair quantity 50% Abnormality of dental morphology 50% Hypoplasia of penis 50% Muscle weakness 50% Neurological speech impairment 50% Short stature 50% Cryptorchidism 7.5% Visual impairment 7.5% Intellectual disability - 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.
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present.
What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat 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) Cognitive impairment 90% Hypoplasia of the ear cartilage 90% Microcephaly 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Abnormality of neuronal migration 50% EEG abnormality 50% Intrauterine growth retardation 50% Macrotia 50% Premature birth 50% Seizures 50% Short stature 50% Abnormality of immune system physiology 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the teeth 7.5% Adducted thumb 7.5% Aqueductal stenosis 7.5% Camptodactyly of finger 7.5% Hemiplegia/hemiparesis 7.5% Hypertelorism 7.5% Hypertonia 7.5% Hypotelorism 7.5% Muscular hypotonia 7.5% Ataxia 5% Dandy-Walker malformation 5% Dystonia 5% Feeding difficulties 5% Spastic tetraplegia 5% Autosomal recessive inheritance - Camptodactyly - Cataract - Cerebellar atrophy - Cerebral atrophy - Diffuse mesangial sclerosis - Epicanthus - Flat occiput - Focal segmental glomerulosclerosis - Hand clenching - Hiatus hernia - High palate - Hyperreflexia - Hypoalbuminemia - Hypopigmentation of the skin - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Infantile onset - Intellectual disability - Joint contracture of the hand - Low-set ears - Microphthalmia - Narrow nasal ridge - Nystagmus - Oligohydramnios - Opacification of the corneal stroma - Optic atrophy - Pachygyria - Pes cavus - Prominent nose - Ptosis - Slender finger - Sloping forehead - Small for gestational age - Small nail - Strabismus - Talipes equinovarus - Wide mouth - 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.
How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals. It is caused by having extra material from chromosomes 11 and 22 in each cell. Almost all people with Emanuel syndrome inherit the extra chromosome material from an unaffected parent with a balanced translocation. Treatment focuses on the specific signs and symptoms in each person.
What are the signs and symptoms of Emanuel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Emanuel 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 metabolism/homeostasis - Anal atresia - Aortic valve stenosis - Atria septal defect - Broad jaw - Cerebral atrophy - Cleft palate - Congenital diaphragmatic hernia - Congenital hip dislocation - Constipation - Cryptorchidism - Deeply set eye - Delayed eruption of primary teeth - Delayed speech and language development - Dental crowding - Facial asymmetry - Feeding difficulties - Gastroesophageal reflux - Hearing impairment - High palate - Hypoplasia of the corpus callosum - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Kyphosis - Long philtrum - Low hanging columella - Low-set ears - Low-set nipples - Macrotia - Microcephaly - Micropenis - Muscular hypotonia - Myopia - Patent ductus arteriosus - Preauricular pit - Preauricular skin tag - Pulmonic stenosis - Recurrent otitis media - Recurrent respiratory infections - Renal agenesis - Renal hypoplasia - Scoliosis - Seizures - Single umbilical artery - Strabismus - Thickened nuchal skin fold - Truncus arteriosus - Upslanted palpebral fissure - Ventricular septal defect - 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 signs and symptoms of Hypomagnesemia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Headache - Hypomagnesemia - Muscle weakness - Vertigo - 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.
Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.
What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death. Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase 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) Atrioventricular block - Autosomal recessive inheritance - Bradycardia - Cardiomyopathy - Cardiorespiratory arrest - Coma - Dicarboxylic aciduria - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Hepatomegaly - Hyperammonemia - Hypoglycemia - Hypotension - Irritability - Lethargy - Muscle weakness - Muscular hypotonia - Rhabdomyolysis - Seizures - Ventricular extrasystoles - Ventricular hypertrophy - Ventricular tachycardia - 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 causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps to break down fat already stored in the body. Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep. When the CAT normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood.
Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis.