bowang0911/MedQuAD huggingface dataset:
Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with  a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.
What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. 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 - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Pseudohypoparathyroidism - Round face - Seizures - Short metacarpal - Short metatarsal - Short neck - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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) Keratoconus 5% Attenuation of retinal blood vessels - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Macular atrophy - Nyctalopia - Optic disc pallor - Pendular nystagmus - Reduced visual acuity - Undetectable light- and dark-adapted electroretinogram - 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 Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. 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 recessive inheritance - Bronchiectasis - Chronic diarrhea - Eczematoid dermatitis - Emphysema - Failure to thrive - Hepatosplenomegaly - Lymphopenia - Metaphyseal dysostosis - Pyoderma - Recurrent bronchopulmonary infections - Recurrent pneumonia - Reduced delayed hypersensitivity - 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 Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. 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 - Autosomal dominant inheritance - Patellar aplasia - Patellar hypoplasia - 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.
Is there treatment for prurigo nodularis? Prurigo nodularis can be challenging to treat.  Due to the intensity of the itch patients may go from doctor to doctor without receiving much relief. Treatment may vary from person to person, as no one treatment is always effective at alleviating symptoms. Several treatments may need to be tried.  You can read further treatment information by visiting the American Osteopathic College of Dermatology (ACOD) information page on prurigo nodularis.  Click here to view the page from the ACOD.
What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. 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) Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Cerebellar atrophy - Depression - Dysarthria - Dysmetria - Dysphagia - Facial myokymia - Focal dystonia - Gait ataxia - Hyperreflexia - Impaired vibration sensation at ankles - Incomplete penetrance - Memory impairment - Mental deterioration - Nystagmus - Progressive cerebellar ataxia - Slow progression - 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.
Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death. In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.
What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Isovaleric acidemia. 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) Aminoaciduria 90% Cognitive impairment 90% Seizures 50% Cerebellar hemorrhage 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Coma - Dehydration - Hyperglycinuria - Ketoacidosis - Lethargy - Leukopenia - Metabolic acidosis - Pancytopenia - Thrombocytopenia - Vomiting - 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 isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.
How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet and use medical foods (such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders) and leucine-free medical formula. A dietician with knowledge of IVA can help parents create a food plan that contains the right amount of protein, nutrients, and energy to keep the child healthy. Any diet changes should be under the guidance of a dietician. Medications that may be recommended include glycine and L-carnitine, which help rid the body of unwanted isovaleric acid and other harmful substances. No medication or supplement should be used without checking with a metabolic doctor. Children with symptoms of a metabolic crisis need medical treatment right away and may be given bicarbonate, glucose, and other medications by IV. With prompt and careful treatment, children with IVA have a good chance to live healthy lives with normal growth and development. However, some children, even when treated, may have repeated metabolic crises which can lead to life-long learning problems or mental retardation.
A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue.  The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation.  MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung.  Treatment of MPNST begins with surgery to remove as much of the tumor as possible.  Radiation therapy may be used to decrease the chance of a recurrence.  Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis.  MPNSTs are quite rare, occurring in 0.001% of the general population.  Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.
BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.
What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer 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) Autosomal dominant inheritance - Breast carcinoma - Multifactorial 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.
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.
What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.
How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.
Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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.
How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on GeneReviews' Web site.
Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.