bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal myopathy. 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 - EMG: myopathic abnormalities - Scapuloperoneal myopathy - Slow progression - Weakness of facial musculature - 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 MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.
What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. 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 retinal pigmentation 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - Small for gestational age - 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.
Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family. Treatment is based on the signs and symptoms present in each person.
What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.
How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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 is neurofibromatosis type 1 diagnosed? The diagnosis of neurofibromatosis type 1 (NF1) is usually based on the presence of characteristic signs and symptoms. Specifically, doctors look for two or more of the following features to make a diagnosis of NF1: Six or more cafe-au-lait spots (measuring more than 5 mm across in children and more than 15 mm across in adolescents and adults) Two or more neurofibromas of any type or one plexiform neurofibroma (a neurofibroma that involves many nerves) Freckling in the underarm and/or groin Optic glioma Two or more Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Bone abnormalities including sphenoid dysplasia (absence of bone surrounding the eye) or tibial pseudarthrosis (incomplete healing of a fracture) A parent, sibling, or child who has been diagnosed with NF1 Because many of the features associated with NF1 develop with age, it can sometimes take several years to make a diagnosis in children without a family history of the condition. Genetic testing for changes (mutations) in the NF1 gene is available, but it is often not necessary. Prenatal testing and preimplantation genetic diagnosis is only an option if the disease-causing mutation in the family is known.
How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource.
What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. 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 - High-frequency hearing impairment - Juvenile onset - 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 Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia).  Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 13. 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) Adult onset - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Increased muscle glycogen content - Myalgia - 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 glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene.  Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise.  The ENO3 gene makes a chemical called enolase, which is an enzyme that helps the muscles use glycogen for energy.  In GSD13, the ENO3 genes do not work properly such that the body cannot make enolase, and as a result, the muscles do not have enough energy to work properly.
Mollaret meningitis is a rare type of meningitis that is characterized by repeated episodes of fever, stiff neck (meningismus), muscle aches, and severe headaches separated by weeks or months of no symptoms.  About half of affected individuals may also experience long-term abnormalities of the nervous system that come and go, such as seizures, double vision, abnormal reflexes, some paralysis of a cranial nerve (paresis), hallucinations, or coma.  Mollaret meningitis is poorly understood and the exact cause remains unknown.  However, recent data suggests that herpes simplex virus (HSV-2 and, less frequently, HSV-1) may cause some, if not most cases. Other causes may include trauma and viral infections other than herpes simplex.
What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. Common symptoms of meningitis may include: High fever  Severe headache Nausea Vomiting Stiff neck Photophobia (sensitivity to light) Altered mental state
What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin 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) Distichiasis 90% Photophobia 50% Absent lower eyelashes - Autosomal dominant inheritance - Hypoplasia of the lower eyelids - 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.
An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.
What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been reported between IMT and infections, including: organizing pneumonia Mycobacterium avium intracellulare Corynebacterium equi (a bacteria that affects the lungs) Campylobacter jejuni (a common cause of gastroenteritis) Bacillus sphaericus Coxiella burnetii Epstein-Barr virus E. coli occlusive phlebitis of intrahepatic veins Associations have also been reported between IMT and: previous abdominal surgery trauma ventriculoperitoneal shunt radiation therapy steroid usage An inflammatory reaction to an underlying, low-grade malignancy has also been proposed as a cause. Because there is limited information available to support or refute any of these, the mechanism behind the development of IMTs is still unclear.
16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.
What are the signs and symptoms of 16q24.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 16q24.3 microdeletion 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 the pinna 90% Autism 90% High forehead 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the corpus callosum 50% Cognitive impairment 50% Frontal bossing 50% Optic atrophy 50% Pointed chin 50% Seizures 50% Thrombocytopenia 50% Ventriculomegaly 50% Wide mouth 50% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Anteverted nares 7.5% Astigmatism 7.5% Cryptorchidism 7.5% Feeding difficulties in infancy 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hypertrophic cardiomyopathy 7.5% Kyphosis 7.5% Long face 7.5% Long philtrum 7.5% Macrocytic anemia 7.5% Myopia 7.5% Narrow forehead 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Otitis media 7.5% Preauricular skin tag 7.5% Proximal placement of thumb 7.5% Scoliosis 7.5% Strabismus 7.5% Thick lower lip vermilion 7.5% Triangular face 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications.
What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include shortness of breath (dyspnea), dry cough, and fever. Some people with BOOP develope a flu-like illness with cough, fever, fatigue, and weight loss.
How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial for individuals on a case-by-case basis include: cyclophosphamide, erythromycin in the form of azithromycin, and Mycophenolate Mofetil (CellCept). More esearch is needed to determine the long-term safety and effectiveness of these potential treatment options for individuals with BOOP. In rare cases, lung transplantation may be necessary for individuals with BOOP who do not respond to standard treatment options.