bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Systemic scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic scleroderma. 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 gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - 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 systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fibroblasts normally produce collagen and other proteins. Build-up of collagen in the skin and other organs causes the signs and symptoms of the condition. It is suspected that scleroderma may develop from a variety of factors, which may include: Abnormal immune or inflammatory activity Genetic susceptibility: while no specific genes are thought to cause scleroderma, certain genes (or combination of genes) may increase a person's risk to be affected. However, the condition is not passed directly from parents to children. Environmental triggers: suspected triggers may include infections; injury; drugs (e.g. vitamin K, cocaine, penicillamine, appetite suppressants and some chemotherapeutic agents); and chemicals (e.g. silica, organic solvents, pesticides, aliphatic hydrocarbons and epoxy resin). Hormones: because women develop scleroderma more often than men, researchers suspect that hormones may play a role. However, the role of female hormones has not been proven. Widespread scleroderma can also occur in association with other autoimmune diseases, including systemic lupus erythematosus and polymyositis.
Is systemic scleroderma inherited? Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with other autoimmune disorders, and a few cases of the condition have been reported to run in families. However, the condition is not caused by a single gene that is passed on to offspring. Multiple genetic and environmental factors likely interact to put someone at an increased risk to develop the condition.
Is genetic testing available for systemic scleroderma? Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a "carrier" is not currently available.  Even if someone is known to carry a version of a gene that may make them susceptible to the condition, it does not mean they will definitely develop the condition. You can view a list of centers that may be involved in research projects on systemic scleroderma on Orphanet's Web site. You can also view a list of clinical trials involving people with systemic scleroderma on ClinicalTrials.gov. People interested in learning more about genes and genetic testing for systemic scleroderma should speak with a genetics professional.
Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.
What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. 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 dominant inheritance - Cerebellar atrophy - Dysarthria - Hyperreflexia - Nystagmus - Progressive cerebellar ataxia - 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.
How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Genetic testing of adults who do not have any symptoms but are at-risk of having inherited the mutation is possible. However, testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in individuals who do not have any symptom. The affected family member should be tested first to confirm the molecular diagnosis in the family. The best person who can answer questions and address any concerns about inheritance questions is a genetic professional. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community:  GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics. https://www.genetests.org/clinics  The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. http://nsgc.org/p/cm/ld/fid=164  The American College of Medical Genetics has a searchable database of US genetics clinics. https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9  The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. http://www.kumc.edu/GEC/prof/genecntr.html  The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. http://www.ashg.org/pages/member_search.shtml 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. Please see a list of laboratories offering the genetic test for spinocerebellar ataxia type 11. For detailed information on testing, inheritance and genetic counseling and a comprehensive review of spinocerebellar ataxia type 11 you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. http://www.ncbi.nlm.nih.gov/books/NBK1757/
What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young 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 mitral valve 90% Abnormality of the palate 90% Abnormality of the shoulder 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Hernia of the abdominal wall 90% Long thorax 90% Micromelia 90% Reduced number of teeth 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.
What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 3. 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 - Cerebral calcification - CSF lymphocytic pleiocytosis - Death in childhood - Delayed myelination - Dystonia - Elevated hepatic transaminases - Encephalopathy - Hepatosplenomegaly - Hyperreflexia - Hypoplasia of the corpus callosum - Muscular hypotonia - Nystagmus - Progressive microcephaly - Severe global developmental delay - Spasticity - Thrombocytopenia - 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.
Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. Mutations in the COL3A1 gene lead to defects in type III collagen molecules and/or reduced amounts of functional type III collagen. This causes the many signs and symptoms associated with EDS, vascular type.
Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some 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 EDS, vascular type has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How is Ehlers-Danlos syndrome, vascular type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), vascular type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene can then be ordered to confirm the diagnosis. Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with EDS, vascular type have abnormalities in type III collagen.
How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms ("asthma attacks") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. Asthma is considered a complex or multifactorial condition that is likely due to a combination of multiple genetic, environmental, and lifestyle factors. Many people with asthma have a personal or family history of allergies, such as hay fever or eczema. Having a family member with asthma is associated with an increased risk of developing the condition. Treatment generally includes various medications, both to prevent asthma attacks and to provide quick relief during an attack.
What are the signs and symptoms of Asthma? The Human Phenotype Ontology provides the following list of signs and symptoms for Asthma. 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) Asthma - 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.
Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variable degrees of weakness and atrophy of the lower limbs, and optic atrophy with or without visual impairment. Autosomal recessive inheritance has been suggested.
What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. 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) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - Visual impairment - 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.
Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the MGP gene.