sarnsrun/medquad huggingface dataset:
Topic: Congenital bilateral absence of the vas deferens
Question: Is Congenital bilateral absence of the vas deferens inherited ?
Answer: How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carry one CFTR mutation, but are usually unaffected (carriers). Men with CBAVD who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased. The risk to siblings of a person with CBAVD depends on the affected person's CFTR gene mutation(s) and cannot readily be predicted without this information. Genetic testing is most informative when the CBAVD-causing mutations have been identified in the affected individual. Men with CBAVD sometimes have only one identifiable CFTR mutation, complicating the testing and interpretation of results in their family members. We recommend speaking with a genetics professional about risk to other family members as well as any appropriate genetic testing.
Source: GARD
Topic: Congenital bilateral absence of the vas deferens
Question: How to diagnose Congenital bilateral absence of the vas deferens ?
Answer: Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we have provided a list of online resources that can assist you in locating a genetics professional near you.
Source: GARD
Topic: Encephalitis lethargica
Question: What is (are) Encephalitis lethargica ?
Answer: Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes including psychosis. A world-wide epidemic of encephalitis lethargica occurred from 1917 to 1928. The cause of this condition is unknown, and treatment depends on a person's symptoms. Levodopa and other antiparkinson drugs often produce dramatic responses.
Source: GARD
Topic: Epidermolysis bullosa simplex, generalized
Question: What is (are) Epidermolysis bullosa simplex, generalized ?
Answer: Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age. All four major types of epidermolysis bullosa simplex, including the genralized type, are caused by mutations in the KRT5 and KRT14 genes. This condition is usually inherited in an autosomal dominant fashion.
Source: GARD
Topic: Epidermolysis bullosa simplex, generalized
Question: What are the symptoms of Epidermolysis bullosa simplex, generalized ?
Answer: What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur. There may also be mild involvement of the mucous membranes, fingernails and toenails. As individuals age, localized thickening of the skin on the soles of the feet and palms of the hands may occur.   The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, generalized. 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 blistering of the skin 90% Subcutaneous hemorrhage 90% Abnormal pattern of respiration 50% Abnormality of dental enamel 50% Abnormality of the nail 50% Hyperhidrosis 50% Ophthalmoparesis 50% Palmoplantar keratoderma 50% Ptosis 50% Fatigable weakness 7.5% Respiratory insufficiency 7.5% Milia 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal dominant inheritance - Palmoplantar hyperkeratosis - 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: Epidermolysis bullosa simplex, generalized
Question: What are the treatments for Epidermolysis bullosa simplex, generalized ?
Answer: How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have minimal symptoms and may require little or no treatment. In all cases, treatment is directed towards the symptoms and is largely supportive. This care should focus on prevention of infection, protection of the skin against trauma, attention to nutritional deficiencies and dietary complications, minimization of deformities and contractures, and the need for psychological support for the patient and other family members.  Detailed information regarding prevention of blisters, care of blisters and infections, and management of nutritional problems can be accessed through the National Institute of Arthritis and Musculoskeletal and Skin  Diseases (NIAMS) and article from the eMedicine journal.
Source: GARD
Topic: Paragangliomas 4
Question: What are the symptoms of Paragangliomas 4 ?
Answer: What are the signs and symptoms of Paragangliomas 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 4. 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) Gastrointestinal stroma tumor 5% Neuroblastoma 5% Abnormality of urine catecholamine concentration - Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Diaphoresis (with pheochromocytoma) - Extraadrenal pheochromocytoma - Glomus jugular tumor - Headache (with pheochromocytoma) - Hypertension associated with pheochromocytoma - Incomplete penetrance - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Renal cell carcinoma - Tachycardia (with pheochromocytoma) - 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: Roch-Leri mesosomatous lipomatosis
Question: What are the symptoms of Roch-Leri mesosomatous lipomatosis ?
Answer: What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. 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 skin 90% 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: Ataxia telangiectasia
Question: What is (are) Ataxia telangiectasia ?
Answer: Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
Source: GARD
Topic: Wernicke-Korsakoff syndrome
Question: What is (are) Wernicke-Korsakoff syndrome ?
Answer: Wernicke-Korsakoff syndrome is a brain disorder due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. Wernicke's encephalopathy can result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Korsakoff's amnesic syndrome is a memory disorder that is associated with alcoholism and involvement of the heart, vascular, and nervous system. Although these conditions may appear to be two different disorders, they are generally considered to be different stages of Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the "acute" phase and Korsakoff's amnesic syndrome represents the "chronic" phase.
Source: GARD
Topic: Wernicke-Korsakoff syndrome
Question: What are the symptoms of Wernicke-Korsakoff syndrome ?
Answer: What are the signs and symptoms of Wernicke-Korsakoff syndrome? The symptoms of Wernicke encephalopathy include mental confusion, vision problems (including double vision, abnormal eye movements, and eyelid drooping), inability to think clearly, coma, hypothermia, hypotension, and loss of muscle coordination (ataxia). The symptoms of Korsakoff's amnesia include loss of memory, inability to form new memories, making of stories (confabulation), seeing or hearing things that are not really there (hallucinations), disorientation, and vision impairment. The main features of Korsakoff's amnesic syndrome are impairments in acquiring new information or establishing new memories, and in retrieving previous memories. The Human Phenotype Ontology provides the following list of signs and symptoms for Wernicke-Korsakoff 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) Ataxia - Autosomal recessive inheritance - Coma - Confusion - Horizontal nystagmus - Memory impairment - Ophthalmoplegia - Polyneuropathy - Psychosis - Ptosis - 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: Wernicke-Korsakoff syndrome
Question: What are the treatments for Wernicke-Korsakoff syndrome ?
Answer: How might Wernicke-Korsakoff syndrome be treated?
Source: GARD
Topic: Craniodiaphyseal dysplasia
Question: What are the symptoms of Craniodiaphyseal dysplasia ?
Answer: What are the signs and symptoms of Craniodiaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniodiaphyseal dysplasia. 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 mandible 90% Abnormality of the ribs 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Frontal bossing 90% Macrocephaly 90% Short stature 90% Atresia of the external auditory canal 50% Conductive hearing impairment 50% Optic atrophy 7.5% Autosomal recessive inheritance - Diaphyseal dysplasia - Diaphyseal sclerosis - Facial hyperostosis - 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.
Source: GARD
Topic: Seow Najjar syndrome
Question: What are the symptoms of Seow Najjar syndrome ?
Answer: What are the signs and symptoms of Seow Najjar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seow Najjar 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) Aqueductal stenosis - Dental crowding - Headache - Hypoplasia of dental enamel - Shovel-shaped maxillary central incisors - Sporadic - Subcapsular cataract - Ventriculomegaly - 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: Proteus syndrome
Question: What is (are) Proteus syndrome ?
Answer: Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.
Source: GARD
Topic: Proteus syndrome
Question: What causes Proteus syndrome ?
Answer: What causes Proteus syndrome? Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism. The AKT1 gene helps regulate cell growth and division. (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics of Proteus syndrome. Studies suggest that AKT1 gene mutations are more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.
Source: GARD
Topic: Charcot-Marie-Tooth disease type 4
Question: What is (are) Charcot-Marie-Tooth disease type 4 ?
Answer: Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication.
Source: GARD
Topic: Early infantile epileptic encephalopathy 4
Question: What is (are) Early infantile epileptic encephalopathy 4 ?
Answer: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.
Source: GARD