falan42/medcuad_data huggingface dataset:
Topic: Greig cephalopolysyndactyly syndrome
Question: What causes Greig cephalopolysyndactyly syndrome ?
Answer: What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a chromosome abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of GCPS.
(Source: GARD)
Topic: Greig cephalopolysyndactyly syndrome
Question: Is Greig cephalopolysyndactyly syndrome inherited ?
Answer: How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family. A person with GCPS syndrome has a 50% chance with each pregnancy of passing the altered gene to his or her child.
(Source: GARD)
Topic: Greig cephalopolysyndactyly syndrome
Question: How to diagnose Greig cephalopolysyndactyly syndrome ?
Answer: Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS. How is Greig cephalopolysyndactyly syndrome diagnosed?  Greig cephalopolysyndactyly syndrome (GCPS) is diagnosed based on clinical findings and family history. Major findings of GCPS include: an abnormally large head size (macrocephaly) greater than the 97th percentile widely spaced eyes (ocular hypertelorism) limb anomalies including extra fingers or toes (polydactyly) fused skin between the fingers and toes (cutaneous syndactyly) A diagnosis is established in a first degree relative of a known affected individual if that person has polydactyly with or without syndactyly or craniofacial features (macrocephaly, widely spaced eyes). A diagnosis is additionally established in a person who has features of GCPS and a mutation in the GLI3 gene.
(Source: GARD)
Topic: Greig cephalopolysyndactyly syndrome
Question: What are the treatments for Greig cephalopolysyndactyly syndrome ?
Answer: How might Greig cephalopolysyndactyly syndrome be treated? Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present.  Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. This fluid is cerebrospinal fluid (CSF) - a clear fluid that surrounds the brain and spinal cord. Excess CSF builds up when it cannot drain from the brain due to a blockage in a passage through which the fluid normally flows. This excess fluid causes an abnormal widening of spaces in the brain called ventricles; this can create harmful pressure on brain tissue. Treatment of hydrocephalus often includes surgical insertion of a shunt system-in which a catheters (tubes) are surgically placed behind both ears. A valve (fluid pump) is placed underneath the skin behind the ear and is connected to both catheters. When extra pressure builds up around the brain, the valve opens, and excess fluid drains through the catheter. This helps lower pressure within the skull (intracranial pressure).
(Source: GARD)
Topic: Kienbock's disease
Question: What is (are) Kienbock's disease ?
Answer: Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma to the wrist, which can disrupt the blood flow to the lunate. As the disease progresses, signs and symptoms may include a painful and/or swollen wrist; stiffness; decreased grip strength; tenderness directly over the bone; and pain or difficulty in turning the hand upward. The underlying cause of Kienbock's disease is unknown. Treatment aims to relieve the pressure on the bone and restore blood flow within the bone. Surgery may be recommended.
(Source: GARD)
Topic: Kienbock's disease
Question: What are the symptoms of Kienbock's disease ?
Answer: What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is localized to the affected area, decreased motion, swelling, and weakness in the affected hand. Rarely, the condition may occur in both hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Kienbock's 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 wrist 90% Arthralgia 90% Aseptic necrosis 90% Bone pain 90% Limitation of joint mobility 90% Osteoarthritis 50% 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: Kienbock's disease
Question: Is Kienbock's disease inherited ?
Answer: Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition.
(Source: GARD)
Topic: Kienbock's disease
Question: What are the treatments for Kienbock's disease ?
Answer: What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation.
(Source: GARD)
Topic: Mehes syndrome
Question: What are the symptoms of Mehes syndrome ?
Answer: What are the signs and symptoms of Mehes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mehes 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) Blepharophimosis 90% External ear malformation 90% Facial asymmetry 90% Hypertelorism 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Ptosis 90% Strabismus 90% Abnormality of the palate 50% Cognitive impairment 50% Long philtrum 50% Anteverted nares 7.5% Anterior creases of earlobe - Autosomal dominant inheritance - Delayed speech and language development - Low-set ears - Specific learning disability - Unilateral narrow palpebral fissure - Unilateral 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: Late-Onset Familial Alzheimer Disease
Question: What is (are) Late-Onset Familial Alzheimer Disease ?
Answer: Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is not completely understood; however, researchers suspect that it is a complex condition, which is likely associated with multiple susceptibility genes (such as the APOE e4 allele) in combination with environmental and lifestyle factors. Although complex conditions do tend to cluster in families, they do not follow a clear-cut pattern of inheritance. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.
(Source: GARD)
Topic: Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
Question: What are the symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures ?
Answer: What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. 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) Aplasia/Hypoplasia of the cerebellum 90% Cerebral calcification 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Cryptorchidism 90% Hemiplegia/hemiparesis 90% Hernia of the abdominal wall 90% Hydrocephalus 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Strabismus 90% Ventriculomegaly 90% Abnormality of the palate 50% Behavioral abnormality 50% Gait disturbance 50% Scoliosis 50% Short philtrum 50% Decreased body weight 7.5% Hearing abnormality 7.5% Increased bone mineral density 7.5% Joint hypermobility 7.5% Long face 7.5% Optic atrophy 7.5% Dandy-Walker malformation 5% Abnormality of the basal ganglia - Choreoathetosis - Coarse facial features - Deeply set eye - Flexion contracture - Gait ataxia - High-frequency hearing impairment - Hyperreflexia - Intellectual disability - Mandibular prognathia - Prominent forehead - Prominent nose - Seizures - Self-injurious behavior - Sensorineural hearing impairment - Spasticity - Thick vermilion border - Wide mouth - 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.
(Source: GARD)
Topic: Char syndrome
Question: What is (are) Char syndrome ?
Answer: Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.
(Source: GARD)
Topic: Char syndrome
Question: What are the symptoms of Char syndrome ?
Answer: What are the signs and symptoms of Char syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Char 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) Depressed nasal bridge 90% Depressed nasal ridge 90% Hypertelorism 90% Malar flattening 90% Patent ductus arteriosus 90% Ptosis 90% Short philtrum 90% Thick lower lip vermilion 90% Clinodactyly of the 5th finger 50% Cognitive impairment 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Hearing impairment 7.5% Myopia 7.5% Prominent occiput 7.5% Reduced consciousness/confusion 7.5% Reduced number of teeth 7.5% Strabismus 7.5% Supernumerary nipple 7.5% Symphalangism affecting the phalanges of the hand 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad forehead - Broad nasal tip - Distal/middle symphalangism of 5th finger - Highly arched eyebrow - Intellectual disability, mild - Low-set ears - Protruding ear - Thick eyebrow - Triangular 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.
(Source: GARD)
Topic: Sabinas brittle hair syndrome
Question: What are the symptoms of Sabinas brittle hair syndrome ?
Answer: What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair 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) Nail dystrophy 5% Autosomal recessive inheritance - Brittle hair - Dry hair - Hypotrichosis - Intellectual disability - Nail dysplasia - 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: Mitochondrial DNA-associated Leigh syndrome
Question: What is (are) Mitochondrial DNA-associated Leigh syndrome ?
Answer: Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.
(Source: GARD)
Topic: Mitochondrial DNA-associated Leigh syndrome
Question: What are the symptoms of Mitochondrial DNA-associated Leigh syndrome ?
Answer: What are the signs and symptoms of Mitochondrial DNA-associated Leigh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial DNA-associated Leigh 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 movement 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nystagmus 90% Respiratory insufficiency 90% Strabismus 90% Ophthalmoparesis 50% Optic atrophy 50% Seizures 50% Abnormal pattern of respiration - Ataxia - Autosomal recessive inheritance - CNS demyelination - Dysarthria - Dystonia - Emotional lability - Failure to thrive - Hepatocellular necrosis - Heterogeneous - Hyperreflexia - Hypertrichosis - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lactic acidosis - Mitochondrial inheritance - Ophthalmoplegia - Phenotypic variability - Pigmentary retinopathy - Progressive - Ptosis - Respiratory failure - Sensorineural hearing impairment - Spasticity - 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: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Question: What is (are) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern.
(Source: GARD)
Topic: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Question: What are the symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: What are the signs and symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. 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) Nystagmus 5% Abnormality of extrapyramidal motor function - Alopecia - Arteriosclerosis of small cerebral arteries - Ataxia - Autosomal recessive inheritance - Babinski sign - Dementia - Diffuse demyelination of the cerebral white matter - Diffuse white matter abnormalities - Dysarthria - Gait disturbance - Hyperreflexia - Low back pain - Progressive encephalopathy - Pseudobulbar signs - Rigidity - Spasticity - 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)