sarnsrun/medquad huggingface dataset:
Topic: Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Question: Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ?
Answer: How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene.
Source: GARD
Topic: Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Question: What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?
Answer: How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain).
Source: GARD
Topic: MYH7-related scapuloperoneal myopathy
Question: What is (are) MYH7-related scapuloperoneal myopathy ?
Answer: MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.
Source: GARD
Topic: MYH7-related scapuloperoneal myopathy
Question: What are the symptoms of MYH7-related scapuloperoneal myopathy ?
Answer: 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.
Source: GARD
Topic: MYH7-related scapuloperoneal myopathy
Question: What causes MYH7-related scapuloperoneal myopathy ?
Answer: 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.
Source: GARD
Topic: MYH7-related scapuloperoneal myopathy
Question: What are the treatments for MYH7-related scapuloperoneal myopathy ?
Answer: How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.
Source: GARD
Topic: Jones syndrome
Question: What is (are) Jones syndrome ?
Answer: Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.
Source: GARD
Topic: Jones syndrome
Question: What are the symptoms of Jones syndrome ?
Answer: What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing. Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome. Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears). Overlapping of symptoms with other syndromes associated with hereditary gingival fibromatosis (HGF) has been reported, including Zimmermann-Laband syndrome and gingival fibromatosis-hypertrichosis syndrome (HGF with excessive hair growth). It has been proposed that the overlapping features reported may represent a spectrum of a single disorder, rather than separate syndromes. The Human Phenotype Ontology provides the following list of signs and symptoms for Jones 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) Delayed eruption of teeth 90% Gingival overgrowth 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Gingival fibromatosis - Progressive sensorineural hearing 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.
Source: GARD
Topic: Jones syndrome
Question: What causes Jones syndrome ?
Answer: What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known.
Source: GARD
Topic: Jones syndrome
Question: Is Jones syndrome inherited ?
Answer: How is Jones syndrome inherited? Jones syndrome is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent.
Source: GARD
Topic: Jones syndrome
Question: What are the treatments for Jones syndrome ?
Answer: How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.
Source: GARD
Topic: ABCD syndrome
Question: What are the symptoms of ABCD syndrome ?
Answer: What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD 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) Abnormal auditory evoked potentials - Aganglionic megacolon - Albinism - Autosomal recessive inheritance - Hearing impairment - Hypopigmentation of the fundus - Large 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.
Source: GARD
Topic: Congenital adrenal hyperplasia
Question: What is (are) Congenital adrenal hyperplasia ?
Answer: Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery.
Source: GARD
Topic: Congenital adrenal hyperplasia
Question: What causes Congenital adrenal hyperplasia ?
Answer: What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene Most of these genes encode enzymes that the adrenal glands need to make one or more hormones. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in these genes lead to deficient levels of enzymes which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of CAH.
Source: GARD
Topic: Congenital adrenal hyperplasia
Question: Is Congenital adrenal hyperplasia inherited ?
Answer: How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are 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. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Source: GARD
Topic: Congenital adrenal hyperplasia
Question: How to diagnose Congenital adrenal hyperplasia ?
Answer: Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are 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 congenital adrenal hyperplasia diagnosed? Shortly after birth, all newborns in the United States are screened for a variety of conditions, including 21-hydroxylase deficiency. This is the most common cause of congenital adrenal hyperplasia (CAH) and accounts for 95% of classic CAH cases. Nonclassic CAH is not detected through newborn screening and is often not suspected until signs and symptoms of the condition begin to appear later in childhood or early adulthood. In these cases, a diagnosis of CAH is usually based on physical examination; blood and urine tests that measure hormone levels; and/or genetic testing. An X-ray may also be helpful in confirming the diagnosis in children since CAH can cause bones to grow and develop more quickly than usual (advanced bone age) .
Source: GARD
Topic: Congenital adrenal hyperplasia
Question: What are the treatments for Congenital adrenal hyperplasia ?
Answer: How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to be taken daily throughout life or the symptoms of CAH may return. It is important that affected people on medications be closely followed by their healthcare provider because their dose may need to be adjusted at different times in life such as periods of high stress or illness. Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female. For more information on the treatment of CAH, please click here.
Source: GARD
Topic: Myelodysplastic/myeloproliferative disease
Question: What is (are) Myelodysplastic/myeloproliferative disease ?
Answer: Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells.  These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and as a result, there are fewer of these healthy cells. In myeloproliferative diseases, a greater than normal number of blood stem cells develop into one or more types of blood cells and the total number of blood cells slowly increases. The 3 main types of myelodysplastic/myeloproliferative diseases include chronic myelomonocytic leukemia (CMML); juvenile myelomonocytic leukemia (JMML); and atypical chronic myelogenous leukemia (aCML). When a myelodysplastic/myeloproliferative disease does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Symptoms of CMML and JMML may include fever, feeling tired and weight loss. Symptoms of aCML may include easy bruising or bleeding and feeling tired or weak. Myelodysplastic/myeloproliferative diseases may progress to acute leukemia. There are different types of treatment for individuals with one of these diseases, which may include chemotherapy, another drug therapy, stem cell transplant and/or supportive care.
Source: GARD
Topic: Myelodysplastic/myeloproliferative disease
Question: What causes Myelodysplastic/myeloproliferative disease ?
Answer: What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic leukemia (CMML) is unknown, but exposure to occupational and environmental carcinogens (agents that can cause cancer), ionizing radiation, and cytotoxic agents (agents that are toxic to cells) have been associated in some cases. The cause of juvenile myelomonocytic leukemia (JMML) is not known; however, children with neurofibromatosis type 1 (NF1) are at increased risk for developing JMML, and up to 14% of cases of JMML occur in children with NF1. Atypical chronic myelogenous leukemia (aCML) has been associated with cytogenetic (chromosomal) abnormalities in as many as 80% of individuals with the disease; however, no cytogenetic abnormality is specific. Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/ MPN-UC) (also known as mixed myeloproliferative/ myelodysplastic syndrome) also has no known cause.
Source: GARD
Topic: Pachygyria with mental retardation and seizures
Question: What are the symptoms of Pachygyria with mental retardation and seizures ?
Answer: What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. 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) Cognitive impairment 90% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - 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.
Source: GARD
Topic: Congenital dyserythropoietic anemia type 3
Question: What are the symptoms of Congenital dyserythropoietic anemia type 3 ?
Answer: What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia 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 dominant inheritance - Congenital hypoplastic anemia - Hemosiderinuria - Jaundice - Macrocytic anemia - 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.
Source: GARD