sarnsrun/medquad huggingface dataset:
Topic: Lipoic acid synthetase deficiency
Question: What is (are) Lipoic acid synthetase deficiency ?
Answer: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Lipoic acid synthetase deficiency
Question: What are the symptoms of Lipoic acid synthetase deficiency ?
Answer: What are the signs and symptoms of Lipoic acid synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoic acid synthetase 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) Apnea - Autosomal recessive inheritance - Encephalopathy - Feeding difficulties - Flexion contracture - Growth delay - Hypertrophic cardiomyopathy - Increased serum lactate - Lactic acidosis - Microcephaly - Motor delay - Muscular hypotonia - Respiratory insufficiency - Seizures - Severe global developmental delay - Sleep disturbance - Spastic tetraplegia - 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: Glomerulopathy with fibronectin deposits 1
Question: What are the symptoms of Glomerulopathy with fibronectin deposits 1 ?
Answer: What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 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) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Lobular glomerulopathy - Microscopic hematuria - Nephropathy - Slow progression - Stage 5 chronic kidney disease - 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: Metachromatic leukodystrophy
Question: What is (are) Metachromatic leukodystrophy ?
Answer: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.
Source: GARD
Topic: Metachromatic leukodystrophy
Question: What are the symptoms of Metachromatic leukodystrophy ?
Answer: What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. 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) Behavioral abnormality 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Gait disturbance 90% Genu recurvatum 90% Incoordination 90% Muscle weakness 90% Neurological speech impairment 90% Peripheral neuropathy 90% Reduced consciousness/confusion 90% Seizures 90% Amaurosis fugax 50% Hyperreflexia 50% Hypertonia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Aganglionic megacolon 7.5% Ataxia - Autosomal recessive inheritance - Babinski sign - Bulbar palsy - Cholecystitis - Chorea - Delusions - Dysarthria - Dystonia - EMG: neuropathic changes - Emotional lability - Gallbladder dysfunction - Hallucinations - Hyporeflexia - Increased CSF protein - Intellectual disability - Loss of speech - Mental deterioration - Peripheral demyelination - Progressive peripheral neuropathy - Spastic tetraplegia - Tetraplegia - Urinary incontinence - 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: Metachromatic leukodystrophy
Question: Is Metachromatic leukodystrophy inherited ?
Answer: How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Source: GARD
Topic: Metachromatic leukodystrophy
Question: How to diagnose Metachromatic leukodystrophy ?
Answer: Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. Generally speaking, the more closely related an individual is to the affected individual or carrier, the greater the chance for that person to be a carrier. Prior to genetic testing, the chance to be a carrier for some biological relatives of an affected individual are as follows: Parent of affected individual: assumed to be 100% (called an obligate carrier) Unaffected sibling of affected individual: 2 in 3 (~66.6%) Aunt or uncle of affected individual: 1 in 2 (50%) First cousin of affected individual: 1 in 4 (25%) If someone has carrier testing and is found to be negative (not a carrier), that person's children are typically assumed to be negative also. More information about the use of genetic carrier testing is available on GeneTests' Web site and can be viewed by clicking here. Individuals who are interested in learning about genetic testing and about their specific risk to be a carrier should speak with a genetics professional.
Source: GARD
Topic: Hunter Rudd Hoffmann syndrome
Question: What are the symptoms of Hunter Rudd Hoffmann syndrome ?
Answer: What are the signs and symptoms of Hunter Rudd Hoffmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hunter Rudd Hoffmann 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 dermatoglyphics 90% Abnormality of the distal phalanx of finger 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Convex nasal ridge 90% Craniosynostosis 90% Epicanthus 90% Hypotelorism 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Narrow forehead 90% Prominent metopic ridge 90% Ptosis 90% Short stature 90% Trigonocephaly 90% Underdeveloped supraorbital ridges 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of the palate 7.5% EEG abnormality 7.5% Hernia of the abdominal wall 7.5% Proptosis 7.5% Seizures 7.5% Ventricular septal defect 7.5% Broad secondary alveolar ridge - High palate - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low-set ears - Posteriorly rotated ears - Premature posterior fontanelle closure - Sagittal craniosynostosis - Small anterior fontanelle - Small for gestational age - X-linked recessive 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: Severe intellectual disability-progressive spastic diplegia syndrome
Question: What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ?
Answer: Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Severe intellectual disability-progressive spastic diplegia syndrome
Question: What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ?
Answer: What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia 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) Hypoplasia of the corpus callosum - Intellectual disability - Microcephaly - Muscular hypotonia - 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.
Source: GARD
Topic: Malignant hyperthermia arthrogryposis torticollis
Question: What are the symptoms of Malignant hyperthermia arthrogryposis torticollis ?
Answer: What are the signs and symptoms of Malignant hyperthermia arthrogryposis torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia arthrogryposis torticollis. 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) Camptodactyly of finger 90% Congenital muscular torticollis 90% Facial asymmetry 90% Limitation of joint mobility 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Plagiocephaly 90% Prominent metopic ridge 90% Scoliosis 90% Skeletal muscle atrophy 90% Talipes 90% Tapered finger 90% Ulnar deviation of finger 90% Webbed neck 90% Abnormality of the nipple 50% Abnormality of the voice 50% Amniotic constriction ring 50% Arachnodactyly 50% Cleft palate 50% Conductive hearing impairment 50% Cryptorchidism 50% Downturned corners of mouth 50% Malignant hyperthermia 50% Mask-like facies 50% Narrow mouth 50% Pectus excavatum 50% Prominent nasal bridge 50% Ptosis 50% Scrotal hypoplasia 50% Short stature 50% Abnormality of the fingernails 7.5% Abnormality of the ribs 7.5% Abnormality of the skin 7.5% Advanced eruption of teeth 7.5% Asymmetric growth 7.5% Broad alveolar ridges 7.5% Dolichocephaly 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Full cheeks 7.5% Hernia of the abdominal wall 7.5% Hypotelorism 7.5% Kyphosis 7.5% Malar flattening 7.5% Muscular hypotonia 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Proptosis 7.5% Respiratory insufficiency 7.5% Sloping forehead 7.5% Abnormality of the mandible - Autosomal recessive inheritance - Natal tooth - 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: Slipped capital femoral epiphysis
Question: What are the symptoms of Slipped capital femoral epiphysis ?
Answer: What are the signs and symptoms of Slipped capital femoral epiphysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Slipped capital femoral epiphysis. 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 - Hip osteoarthritis - Proximal femoral epiphysiolysis - 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: X-linked sideroblastic anemia
Question: What is (are) X-linked sideroblastic anemia ?
Answer: X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.
Source: GARD
Topic: X-linked sideroblastic anemia
Question: What are the symptoms of X-linked sideroblastic anemia ?
Answer: What are the signs and symptoms of X-linked sideroblastic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked sideroblastic anemia. 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) Anemia 90% Abnormality of the cardiovascular system 7.5% Abnormality of the spleen 7.5% Irregular hyperpigmentation 7.5% Respiratory insufficiency 7.5% Type II diabetes mellitus 7.5% Hypochromic microcytic anemia - Macrocytic anemia - Sideroblastic anemia - Variable expressivity - X-linked recessive 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: PURA syndrome
Question: What is (are) PURA syndrome ?
Answer: PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. The reason for this is unknown. Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy. Early intervention is key.
Source: GARD