Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the treatments for McCune Albright syndrome ?
Answer: How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. Surgery may be needed to manage complications associated with fibrous dysplasia, such as progressive visual disturbance, severe pain, and severe disfigurement. Surgery may also be needed to manage associated endocrine abnormalities and/or cancers. Bisphosphonates are frequently used to treat fibrous dysplasia. Strengthening exercises are recommended to help maintain musculature around the bones and minimize the risk of fracture. Treatment of all endocrine symptoms, whether by hormone inhibitors or surgery, is commonly required. More detailed information about the management of MAS syndrome is available on Medscape Reference's Web site.
Question: What is (are) Glycogen storage disease type 6 ?
Answer: Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly. Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time. Symptoms improve significantly as individuals with this condition get older. Glycogen storage disease type 6 is caused by mutations in the PYGL gene and is inherited in an autosomal recessive manner.
Question: What is (are) Chiari malformation type 2 ?
Answer: Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations.
Question: What are the symptoms of Chiari malformation type 2 ?
Answer: What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 2. 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) Agenesis of corpus callosum 33% Arnold-Chiari malformation - Ataxia - Bulbar signs - Cervical myelopathy - Cyanosis - Dysphagia - Feeding difficulties - Heterotopia - Hydrocephalus - Inspiratory stridor - Limb muscle weakness - Multifactorial inheritance - Muscular hypotonia - Nystagmus - Occipital neuralgia - Opisthotonus - Spina bifida - 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 Chiari malformation type 2 inherited ?
Answer: Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be. There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation. However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele.
Question: What are the symptoms of Hair defect with photosensitivity and mental retardation ?
Answer: What are the signs and symptoms of Hair defect with photosensitivity and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Hair defect with photosensitivity and mental retardation. 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) Abnormal hair quantity 90% Coarse hair 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Fine hair 90% Pili torti 90% Abnormality of immune system physiology 50% Autosomal recessive inheritance - Brittle hair - Intellectual disability - Sparse eyebrow - Sparse eyelashes - 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) Adenoid cystic carcinoma ?
Answer: Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy.
Question: What causes Adenoid cystic carcinoma ?
Answer: What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cause a person to develop specific types of cancers. There is ongoing research to learn more about the many factors that contribute to the development of cancer. Cancer is at least partly due to acquired (not inherited) damage or changes to the DNA in certain cells. For example, various studies have shown that chromosomal abnormalities and genetic deletions are present in samples of ACC. However, these genetic abnormalities are present only in the cancer cells, not in the cells with the genetic material that is passed on to offspring (the egg and sperm cells).
Question: Is Adenoid cystic carcinoma inherited ?
Answer: Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors.
Question: What are the symptoms of Hyperglycerolemia ?
Answer: What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. 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 metabolism/homeostasis 90% Cognitive impairment 90% EMG abnormality 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Primary adrenal insufficiency 90% Short stature 90% Cryptorchidism 50% EEG abnormality 50% Hyperlordosis 50% Reduced bone mineral density 50% Scoliosis 50% Seizures 50% Abnormal facial shape 7.5% Adrenal insufficiency - Adrenocortical hypoplasia - Coma - Downturned corners of mouth - Episodic vomiting - Frontal bossing - Hypertelorism - Hypertriglyceridemia - Hypoglycemia - Intellectual disability - Ketoacidosis - Lethargy - Low-set ears - Metabolic acidosis - Muscular dystrophy - Osteoporosis - Pathologic fracture - Small for gestational age - Strabismus - X-linked dominant inheritance - X-linked recessive 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.
Question: What are the symptoms of Leiomyoma of vulva and esophagus ?
Answer: What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. 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 - Clitoromegaly - Esophageal obstruction - 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) Paroxysmal extreme pain disorder ?
Answer: Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the location of the pain may change, with attacks affecting the head and face. Triggers of these pain attacks include changes in temperature, emotional distress or eating spicy foods and drinking cold beverages. Paroxysmal extreme pain disorder is caused by mutations in the SCN9A gene. This condition is inherited in an autosomal dominant pattern. Treatment may include medications used to manage chronic neuropathic pain (anticonvulsants) such as the sodium channel blocker carbamazepine.
Question: What are the symptoms of Paroxysmal extreme pain disorder ?
Answer: What are the signs and symptoms of Paroxysmal extreme pain disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal extreme pain disorder. 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) Constipation 50% Autosomal dominant inheritance - Bradycardia - Impaired pain sensation - Lacrimation abnormality - Mandibular pain - Neonatal onset - Ocular pain - Tachycardia - 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 Cushing's syndrome ?
Answer: What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances.
Question: Is Cushing's syndrome inherited ?
Answer: Is Cushing's syndrome inherited? Most cases of Cushing's syndrome are not inherited. However, Cushing's syndrome rarely occurs in inherited conditions characterized by the development of tumors of one or more endocrine gland. These conditions may include: Primary pigmented micronodular adrenal disease, in which children or young adults develop small cortisol-producing tumors of the adrenal glands, Multiple endocrine neoplasia type 1 (MEN1), in which hormone-secreting tumors of the parathyroid glands, pancreas, and pituitary develop. Cushing's syndrome in MEN1 may be due to pituitary or adrenal tumors.
Question: What is (are) Dowling-Degos disease ?
Answer: Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). Symptoms typically develop in late childhood or in adolescence and progress over time. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically don't cause health problems. Dowling-Degos disease is caused by mutations in the KRT5 gene. This condition is inherited in an autosomal dominant pattern.
Question: What are the treatments for Dowling-Degos disease ?
Answer: Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Limited reports indicate at least temporary therapeutic benefit with topical adapalene. Various laser systems (CO2 and erbiumYAG) have also shown some promise. Additional articles that address this topic can be accessed below: Altomare G, Capella GL, Fracchiolla C, Frigerio E. Effectiveness of topical adapalene in Dowling-Degos disease. Dermatology. 1999;198(2):176-7.
Question: What is (are) Noonan syndrome 2 ?
Answer: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
Question: What are the treatments for Noonan syndrome 2 ?
Answer: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
Question: What is (are) Progressive myoclonic epilepsy ?
Answer: Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.
Question: What are the symptoms of Aromatase excess syndrome ?
Answer: What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess 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) Accelerated skeletal maturation - Autosomal dominant inheritance - Gynecomastia - 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.