Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Abetalipoproteinemia ?
Answer: What are the signs and symptoms of Abetalipoproteinemia? The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include: failure to thrive in infancy digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools) abnormal, star-shaped red blood cells (acanthocytosis) nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy; poor muscle coordination; ataxia; and intention tremors eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life The Human Phenotype Ontology provides the following list of signs and symptoms for Abetalipoproteinemia. 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) Malabsorption 90% Abnormality of movement 50% Abnormality of retinal pigmentation 50% Incoordination 50% Muscular hypotonia 50% Visual impairment 7.5% Abetalipoproteinemia - Acanthocytosis - Ataxia - Autosomal recessive inheritance - CNS demyelination - Fat malabsorption - Peripheral demyelination - Pigmentary retinal degeneration - Retinopathy - 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.
Question: What causes Abetalipoproteinemia ?
Answer: What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. This in turn leads to the nutritional and neurologic problems in affected people.
Question: Is Abetalipoproteinemia inherited ?
Answer: How is abetalipoproteinemia inherited? Abetalipoproteinemia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Question: How to diagnose Abetalipoproteinemia ?
Answer: Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. 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. Prenatal testing may also be available for pregnancies at increased risk if the mutations in the family have been identified.
Question: What are the treatments for Abetalipoproteinemia ?
Answer: How might abetalipoproteinemia be treated? A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). Linoleic acid supplements are also recommended. Several diet changes and/or restrictions are also needed to prevent stomach problems. A low-fat diet may help with digestive symptoms; medium chain triglycerides may be used (under supervision of a specialist) as a source of fat in the diet. Management in adults typically focuses on specific complications associated with the disorder, and depends on the signs and symptoms present. Affected people may need consultations with several other types of specialists, including a lipidologist, gastroenterologist, hepatologist, ophthalmologist, and neurologist.
Question: What causes X-linked hypophosphatemia ?
Answer: What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone that regulates phosphate reabsorption in the kidneys. Too much FGF23 causes phosphate wasting in the kidneys that prevents maintenance of proper phosphate levels in the blood and is responsible for the symptoms of XLH.
Question: Is X-linked hypophosphatemia inherited ?
Answer: How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition in both males and females. A female with XLH has a 50% chance of passing along a mutation to each of her children. Since males only have one X-chromosome, a male with XLH will pass along the condition to all of his daughters, but not to his sons. PHEX mutations are inherited through families, but they can also occur spontaneously, explaining why some people with XLH may not have a previous family history.
Question: How to diagnose X-linked hypophosphatemia ?
Answer: How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes for these symptoms. Biochemical findings include low concentrations of phosphate in the blood accompanied by unexpectedly normal levels of vitamin Dand calcium. Elevated levels of FGF23 and phosphate excretion can also be measured. Genetic testing is also available, but is not required to make a diagnosis. Is genetic testing available for X-linked hypophosphatemia? X-linked hypophosphatemia is generally diagnosed based upon clinical findings. Genetic testing is available to confirm a suspected diagnosis, but is not required. Available methods include single gene sequencing and deletion/duplication analysis of the PHEX gene. However, these tests are not able to detect a causal genetic change in all people affected with XLH. Panel testing is also available that looks for variants in a number of genes associated with other types of hypophosphatemic rickets.
Question: What are the treatments for X-linked hypophosphatemia ?
Answer: How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. Calcitriol increases calcium levels by promoting calcium absorption in the intestines, and calcium retention in kidneys. In children, treatment is usually initiated at the time of diagnosis and continues until bone growth is complete. The amount of phosphate and calcitriol are carefully monitored and adjusted to prevent the accumulation of calcium in the blood and kidneys, as these effects can harm the kidneys and other tissues. Hyperparathyroidism, an endocrine disorder characterized by weakness and fatigue, can also occur as a result of treatment, and doses may be modified to manage this secondary complication. The main treatment goal for adults is to help improve pain. As such, treatment duration and dosage vary based on individual needs. Other treatment options may include administration of growth hormones to improve short-term growth in children. Corrective surgery may be necessary to fix leg curvatures for children whose diagnosis was delayed, or whose initial treatment was not adequate. Additionally, skull abnormalities may require treatment for synostosis (premature closing of sutures in the brain). Spontaneous abscesses in the mouth may require dental procedures periodically. Recent clinical trials have investigated the potential of a new therapeutic antibody that inhibits fibroblast growth factor 23 (FGF23), a circulating hormone that causes phosphate wasting in the kidneys and is usually found in at high concentrations in people with XLH. These trials are ongoing, and more information can be found at clinicaltrials.gov.
Question: What causes 22q11.2 deletion syndrome ?
Answer: What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that contains about 30 to 40 genes, many of which have not been well characterized. Some affected people have smaller deletions. Researchers are working to learn more about all of the genes that contribute to the features of 22q11.2 deletion syndrome. The deletion of a particular gene, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Loss of this gene may also contribute to behavioral problems. The loss of another gene, COMT, may also cause increased risk of behavioral problems and mental illness in affected people. The other genes that are deleted likely contribute to the various features of 22q11.2 deletion syndrome.
Question: Is 22q11.2 deletion syndrome inherited ?
Answer: Is 22q11.2 deletion syndrome inherited? Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion. All people with the deletion, whether they inherited it or not, can pass the deletion to their children. The inheritance pattern is autosomal dominant because having a deletion in only one copy of chromosome 22 in each cell is enough to cause signs and symptoms. Each child of a person with the deletion has a 50% (1 in 2) chance to inherit the deletion.
Question: What is (are) Adenoameloblastoma ?
Answer: Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst. Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw.
Question: What causes Adenoameloblastoma ?
Answer: What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. Adenoameloblastomas in the front upper jaw are often associated with an impacted tooth.
Question: What are the treatments for Adenoameloblastoma ?
Answer: How might adenoameloblastoma be treated? Treatment may require the removal of the legion as well as the surrounding tissues. Once the treatment is complete, recurrence of the legion is very rare.
Question: What is (are) Idiopathic juxtafoveal retinal telangiectasia ?
Answer: Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which enable sharp, daytime vision. In IJT, the telangiectasias cause fluid or crystal buildup and swelling, impairing reflection of light. This results in progressive vision loss. It may be congenital (present at birth) or can develop during the lifetime (acquired). The different types of IJT are distinguished by their features and treatment options. Laser photocoagulation maybe helpful in treating vision loss for individuals with certain types of IJT.
Question: What are the symptoms of Idiopathic juxtafoveal retinal telangiectasia ?
Answer: What are the signs and symptoms of idiopathic juxtafoveal retinal telangiectasia? Signs and symptoms of idiopathic juxtafoveal retinal telangiectasia may include slow loss of vision, distorted vision, trouble reading, and scotomata (a spot in the visual field in which vision is absent or deficient).
Question: What causes Idiopathic juxtafoveal retinal telangiectasia ?
Answer: What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however, no specific gene has been proven to cause the condition. Researchers have considered that changes in the ATM gene may interact with other genes or environmental factors to predispose a person to developing IJT. Some researchers have speculated that diabetes, or pre-diabetes, may be associated with some cases of IJT. However, to our knowledge, this association has not been proven. Others have suggested there may be a developmental cause, such as abnormal formation of vessels in the eye, which could cause abnormalities of the vessels in adulthood. Certain types of IJT may occur in association with other conditions, including polycythemia (abnormal increase in blood volume), hypoglycemia, ulcerative colitis, multiple myeloma and chronic lymphatic leukemia.
Question: What are the treatments for Idiopathic juxtafoveal retinal telangiectasia ?
Answer: How might idiopathic juxtafoveal retinal telangiectasia (IJT) be treated? Laser photocoagulation of areas of leakage may be helpful in treating vision loss in people with certain subtypes of IJT, such as Group 1A. A laser is a powerful beam of light which can be focused on the retina. Small "bursts" of the laser can be used to seal leaky blood vessels, destroy abnormal blood vessels, seal retinal tears, and destroy abnormal tissue in the back of the eye. Photocoagulation usually is not considered for people with people in Group 1B because of the closeness of the leakage to the fovea, and the good prognosis without treatment. It may benefit people in Group 2 but in most cases, the abnormal lesions are so close to the fovea that treatment is difficult.
Question: What is (are) IBIDS syndrome ?
Answer: Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy).
Question: What are the symptoms of IBIDS syndrome ?
Answer: What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, short stature, mental retardation, delayed neuromuscular development and other central nervous system anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely-aged facial appearance, hypogonadism, cataracts, osteosclerosis (abnormal increase in density and hardness of the bone), dysphonia, and increased susceptibility to infections. The Human Phenotype Ontology provides the following list of signs and symptoms for IBIDS 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 face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - 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.
Question: Is IBIDS syndrome inherited ?
Answer: What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier.
Question: What are the treatments for IBIDS syndrome ?
Answer: What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum.
Question: What are the symptoms of Benign paroxysmal positional vertigo ?
Answer: What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. 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 - Gait imbalance - Slow progression - Vertigo - 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.
Question: What is (are) Autoimmune autonomic ganglionopathy ?
Answer: Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.
Question: What are the symptoms of Autoimmune autonomic ganglionopathy ?
Answer: What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently) Urinary retention Fixed and dilated pupils Dry mouth and eyes Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.
Question: What causes Autoimmune autonomic ganglionopathy ?
Answer: What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness.
Question: What are the treatments for Autoimmune autonomic ganglionopathy ?
Answer: How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.