sarnsrun/medquad huggingface dataset:
Topic: Fuchs endothelial dystrophy
Question: Is Fuchs endothelial dystrophy inherited ?
Answer: In some cases, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is apparent in some situations in which the condition is caused by alterations in an unknown gene.  In many families, the inheritance pattern is unknown.  Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family.
Source: GHR
Topic: Fuchs endothelial dystrophy
Question: What are the treatments for Fuchs endothelial dystrophy ?
Answer: These resources address the diagnosis or management of Fuchs endothelial dystrophy:  - Duke Eye Center: Corneal Disease  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial 1  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 2  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 3  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 4  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 5  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 6  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 7  - MedlinePlus Encyclopedia: Fuchs Dystrophy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: autosomal recessive cerebellar ataxia type 1
Question: What is (are) autosomal recessive cerebellar ataxia type 1 ?
Answer: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.
Source: GHR
Topic: autosomal recessive cerebellar ataxia type 1
Question: How many people are affected by autosomal recessive cerebellar ataxia type 1 ?
Answer: More than 100 people have been diagnosed with ARCA1. This condition was first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of Quebec, Canada, but it has since been found in populations worldwide.
Source: GHR
Topic: autosomal recessive cerebellar ataxia type 1
Question: What are the genetic changes related to autosomal recessive cerebellar ataxia type 1 ?
Answer: Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons).  SYNE1 gene mutations that cause ARCA1 result in an abnormally short, dysfunctional version of the Syne-1 protein. The defective protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.
Source: GHR
Topic: autosomal recessive cerebellar ataxia type 1
Question: Is autosomal recessive cerebellar ataxia type 1 inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR
Topic: autosomal recessive cerebellar ataxia type 1
Question: What are the treatments for autosomal recessive cerebellar ataxia type 1 ?
Answer: These resources address the diagnosis or management of ARCA1:  - Gene Review: Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia  - Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8  - Johns Hopkins Medicine Department of Neurology and Neurosurgery: What is Ataxia?  - MedlinePlus Encyclopedia: Dysarthria--Care   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: dopamine beta-hydroxylase deficiency
Question: What is (are) dopamine beta-hydroxylase deficiency ?
Answer: Dopamine beta ()-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).  Individuals with dopamine -hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine -hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.  Other features of dopamine -hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.
Source: GHR
Topic: dopamine beta-hydroxylase deficiency
Question: How many people are affected by dopamine beta-hydroxylase deficiency ?
Answer: Dopamine -hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature.
Source: GHR
Topic: dopamine beta-hydroxylase deficiency
Question: What are the genetic changes related to dopamine beta-hydroxylase deficiency ?
Answer: Mutations in the DBH gene cause dopamine -hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine -hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells.  DBH gene mutations result in the production of a nonfunctional dopamine -hydroxylase enzyme. People who lack functional dopamine -hydroxylase cannot convert dopamine to norepinephrine, which leads to a shortage of norepinephrine in the body. The lack of norepinephrine causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine -hydroxylase deficiency.
Source: GHR
Topic: dopamine beta-hydroxylase deficiency
Question: Is dopamine beta-hydroxylase deficiency inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR
Topic: dopamine beta-hydroxylase deficiency
Question: What are the treatments for dopamine beta-hydroxylase deficiency ?
Answer: These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency:  - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency  - Genetic Testing Registry: Dopamine beta hydroxylase deficiency  - Vanderbilt Autonomic Dysfunction Center   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: congenital hepatic fibrosis
Question: What is (are) congenital hepatic fibrosis ?
Answer: Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various molecules needed by the body and breaking down other molecules so that their components can be used or eliminated.  Congenital hepatic fibrosis is characterized by malformation of the bile ducts and of the blood vessels of the hepatic portal system. Bile ducts carry bile (a fluid that helps to digest fats) from the liver to the gallbladder and small intestine. The hepatic portal system is a branching network of veins (portal veins) that carry blood from the gastrointestinal tract to the liver for processing.  A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this disorder. Portal tracts are structures in the liver that bundle the vessels through which blood, lymph, and bile flow, and fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels. Lymph is a fluid that helps exchange immune cells, proteins, and other substances between the blood and tissues.  Constriction of the portal veins due to malformation and portal tract fibrosis results in high blood pressure in the hepatic portal system (portal hypertension). Portal hypertension impairs the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins may stretch and their walls may become thin, leading to a risk of abnormal bleeding.  People with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is abnormally shaped. Affected individuals also have an increased risk of infection of the bile ducts (cholangitis), hard deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver or gallbladder.  Congenital hepatic fibrosis may occur alone, in which case it is called isolated congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys (the renal system), such as polycystic kidney disease (PKD).
Source: GHR
Topic: congenital hepatic fibrosis
Question: How many people are affected by congenital hepatic fibrosis ?
Answer: Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals.
Source: GHR
Topic: congenital hepatic fibrosis
Question: What are the genetic changes related to congenital hepatic fibrosis ?
Answer: Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown.  Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. During development before birth, the ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, resulting in the persistence of immature bile ducts. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts.  The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis.
Source: GHR
Topic: congenital hepatic fibrosis
Question: Is congenital hepatic fibrosis inherited ?
Answer: The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern, in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes.  In isolated congenital hepatic fibrosis, the inheritance pattern is unknown.
Source: GHR
Topic: congenital hepatic fibrosis
Question: What are the treatments for congenital hepatic fibrosis ?
Answer: These resources address the diagnosis or management of congenital hepatic fibrosis:  - Gene Review: Gene Review: Congenital Hepatic Fibrosis Overview  - Genetic Testing Registry: Congenital hepatic fibrosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: Dandy-Walker malformation
Question: How many people are affected by Dandy-Walker malformation ?
Answer: Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.
Source: GHR
Topic: Dandy-Walker malformation
Question: What are the genetic changes related to Dandy-Walker malformation ?
Answer: Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is an extra copy of one chromosome in each cell (trisomy). Dandy-Walker malformation most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. This condition can also be associated with missing (deletions) or copied (duplications) pieces of certain chromosomes. Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown.  Research suggests that Dandy-Walker malformation could be caused by environmental factors that affect early development before birth. For example, exposure of the fetus to substances that cause birth defects (teratogens) may be involved in the development of this condition. In addition, a mother with diabetes is more likely than a healthy mother to have a child with Dandy-Walker malformation.
Source: GHR
Topic: Dandy-Walker malformation
Question: Is Dandy-Walker malformation inherited ?
Answer: Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. First-degree relatives (such as siblings and children) of people with Dandy-Walker malformation have an increased risk of developing the condition compared with people in the general population.  When Dandy-Walker malformation is a feature of a genetic condition, it is inherited in the pattern of that condition.
Source: GHR
Topic: Dandy-Walker malformation
Question: What are the treatments for Dandy-Walker malformation ?
Answer: These resources address the diagnosis or management of Dandy-Walker malformation:  - Genetic Testing Registry: Dandy-Walker syndrome  - National Hydrocephalus Foundation: Treatment of Hydrocephalus   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: familial hyperaldosteronism
Question: What is (are) familial hyperaldosteronism ?
Answer: Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.  Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.  There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.
Source: GHR
Topic: familial hyperaldosteronism
Question: How many people are affected by familial hyperaldosteronism ?
Answer: The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism.
Source: GHR
Topic: familial hyperaldosteronism
Question: What are the genetic changes related to familial hyperaldosteronism ?
Answer: The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands.  The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I.  Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III.  The genetic cause of familial hyperaldosteronism type II is unknown.
Source: GHR
Topic: familial hyperaldosteronism
Question: Is familial hyperaldosteronism inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Source: GHR
Topic: familial hyperaldosteronism
Question: What are the treatments for familial hyperaldosteronism ?
Answer: These resources address the diagnosis or management of familial hyperaldosteronism:  - Genetic Testing Registry: Familial hyperaldosteronism type 1  - Genetic Testing Registry: Familial hyperaldosteronism type 3  - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism  - International Registry for Glucocorticoid-Remediable Aldosteronism  - MedlinePlus Encyclopedia: Aldosterone   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: Pfeiffer syndrome
Question: What is (are) Pfeiffer syndrome ?
Answer: Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.  Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.  In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).  Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.
Source: GHR
Topic: Pfeiffer syndrome
Question: How many people are affected by Pfeiffer syndrome ?
Answer: Pfeiffer syndrome affects about 1 in 100,000 individuals.
Source: GHR