sarnsrun/medquad huggingface dataset:
Topic: hereditary hyperekplexia
Question: What are the genetic changes related to hereditary hyperekplexia ?
Answer: At least five genes are associated with hereditary hyperekplexia. Most of these genes provide instructions for producing proteins that are found in nerve cells (neurons). They play a role in how neurons respond to a molecule called glycine. This molecule acts as a neurotransmitter, which is a chemical messenger that transmits signals in the nervous system. Gene mutations that cause hereditary hyperekplexia disrupt normal cell signaling in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).  Approximately 80 percent of cases of hereditary hyperekplexia are caused by mutations in the GLRA1 gene. The GLRA1 gene provides instructions for making one part, the alpha ()1 subunit, of the glycine receptor protein. GLRA1 gene mutations lead to the production of a receptor that cannot properly respond to glycine. As a result, glycine is less able to transmit signals in the spinal cord and brainstem. Mutations in the other four genes account for a small percentage of all cases of hereditary hyperekplexia.  A disruption in cell signaling caused by mutations in the five genes associated with hereditary hyperekplexia is thought to cause the abnormal muscle movements, exaggerated startle reaction, and other symptoms characteristic of this disorder.
Source: GHR
Topic: hereditary hyperekplexia
Question: Is hereditary hyperekplexia inherited ?
Answer: Hereditary hyperekplexia has different inheritance patterns.  This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.  Hereditary hyperekplexia can also be 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 disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the disorder.  Rarely, hereditary hyperekplexia is inherited in an X-linked pattern. In these cases, the gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Source: GHR
Topic: hereditary hyperekplexia
Question: What are the treatments for hereditary hyperekplexia ?
Answer: These resources address the diagnosis or management of hereditary hyperekplexia:  - Gene Review: Gene Review: Hyperekplexia  - Genetic Testing Registry: Early infantile epileptic encephalopathy 8  - Genetic Testing Registry: Hyperekplexia hereditary   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: ornithine transcarbamylase deficiency
Question: What is (are) ornithine transcarbamylase deficiency ?
Answer: Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.  Ornithine transcarbamylase deficiency often becomes evident in the first few days of life. An infant with ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen.  In some affected individuals, signs and symptoms of ornithine transcarbamylase may be less severe, and may not appear until later in life.
Source: GHR
Topic: ornithine transcarbamylase deficiency
Question: How many people are affected by ornithine transcarbamylase deficiency ?
Answer: Ornithine transcarbamylase deficiency is believed to occur in approximately 1 in every 80,000 people.
Source: GHR
Topic: ornithine transcarbamylase deficiency
Question: What are the genetic changes related to ornithine transcarbamylase deficiency ?
Answer: Mutations in the OTC gene cause ornithine transcarbamylase deficiency.  Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.  In ornithine transcarbamylase deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia.  Ammonia is especially damaging to the nervous system, so ornithine transcarbamylase deficiency causes neurological problems as well as eventual damage to the liver.
Source: GHR
Topic: ornithine transcarbamylase deficiency
Question: Is ornithine transcarbamylase deficiency inherited ?
Answer: Ornithine transcarbamylase deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of ornithine transcarbamylase deficiency.
Source: GHR
Topic: ornithine transcarbamylase deficiency
Question: What are the treatments for ornithine transcarbamylase deficiency ?
Answer: These resources address the diagnosis or management of ornithine transcarbamylase deficiency:  - Baby's First Test  - Gene Review: Gene Review: Ornithine Transcarbamylase Deficiency  - Gene Review: Gene Review: Urea Cycle Disorders Overview  - Genetic Testing Registry: Ornithine carbamoyltransferase deficiency  - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality   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: hypermethioninemia
Question: What is (are) hypermethioninemia ?
Answer: Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.  People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.  Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.
Source: GHR
Topic: hypermethioninemia
Question: How many people are affected by hypermethioninemia ?
Answer: Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms.
Source: GHR
Topic: hypermethioninemia
Question: What are the genetic changes related to hypermethioninemia ?
Answer: Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia.  Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions involved in metabolizing methionine help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes.  The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. This enzyme converts methionine into a compound called S-adenosylmethionine, also known as AdoMet or SAMe. The GNMT gene provides instructions for making the enzyme glycine N-methyltransferase. This enzyme starts the next step in the process, converting AdoMet to a compound called S-adenosyl homocysteine, or AdoHcy. The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts the AdoHcy into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine.  A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia.
Source: GHR
Topic: hypermethioninemia
Question: Is hypermethioninemia inherited ?
Answer: Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.  Hypermethioninemia is occasionally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually has one parent with the condition.
Source: GHR
Topic: hypermethioninemia
Question: What are the treatments for hypermethioninemia ?
Answer: These resources address the diagnosis or management of hypermethioninemia:  - Baby's First Test  - Genetic Testing Registry: Glycine N-methyltransferase deficiency  - Genetic Testing Registry: Hepatic methionine adenosyltransferase deficiency  - Genetic Testing Registry: Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency   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: renal tubular dysgenesis
Question: What is (are) renal tubular dysgenesis ?
Answer: Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).  Fetal urine is the major component of the fluid that surrounds the fetus (amniotic fluid), and anuria leads to decreased amniotic fluid levels (oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays a role in the development of many organs, including the lungs. Oligohydramnios causes a set of abnormalities called the Potter sequence, which includes distinctive facial features such as a flattened nose and large, low-set ears; excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped lungs.  Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In addition, bone development in the skull is abnormal in some affected individuals, causing a large space between the bones of the skull (fontanels).  As a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. Rarely, with treatment, affected individuals survive into childhood. Their blood pressure usually normalizes, but they quickly develop chronic kidney disease, which is characterized by reduced kidney function that worsens over time.
Source: GHR
Topic: renal tubular dysgenesis
Question: How many people are affected by renal tubular dysgenesis ?
Answer: Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown.
Source: GHR
Topic: renal tubular dysgenesis
Question: What are the genetic changes related to renal tubular dysgenesis ?
Answer: Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth.  The renin-angiotensin system consists of several proteins that are involved in a series of steps to produce a protein called angiotensin II. In the first step, the renin protein (produced from the REN gene) converts a protein called angiotensinogen (produced from the AGT gene) to angiotensin I. In the next step, angiotensin-converting enzyme (produced from the ACE gene) converts angiotensin I to angiotensin II. Angiotensin II attaches (binds) to the angiotensin II receptor type 1 (AT1 receptor; produced from the AGTR1 gene), stimulating chemical signaling.  By binding to the AT1 receptor, angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. This protein also stimulates production of the hormone aldosterone, which triggers the absorption of salt and water by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure, which delivers oxygen to the developing tissues during fetal growth, is required for normal development of the kidneys (particularly of the proximal tubules) and other tissues.  Mutations in the ACE, AGT, AGTR1, or REN gene impair the production or function of angiotensin II, leading to a nonfunctional renin-angiotensin system. Without this system, the kidneys cannot control blood pressure. Because of low blood pressure, the flow of blood is reduced (hypoperfusion), and the fetal tissues do not get enough oxygen during development. As a result, kidney development is impaired, leading to the features of renal tubular dysgenesis. Hypoperfusion also causes the skull abnormalities found in individuals with this condition.  Medications that block the activity of the angiotensin-converting enzyme or the AT1 receptor are used to treat high blood pressure. Because these drugs impair the renin-angiotensin system, they can cause an acquired (non-inherited) form of renal tubular dysgenesis in fetuses of pregnant women who take them. Acquired renal tubular dysgenesis can also result from other conditions that cause renal hypoperfusion during fetal development. These include heart problems, congenital hemochromatosis, and a complication that can occur in twin pregnancies called twin-to-twin transfusion syndrome.
Source: GHR
Topic: renal tubular dysgenesis
Question: Is renal tubular dysgenesis inherited ?
Answer: Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected 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: renal tubular dysgenesis
Question: What are the treatments for renal tubular dysgenesis ?
Answer: These resources address the diagnosis or management of renal tubular dysgenesis:  - Genetic Testing Registry: Renal dysplasia   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: argininosuccinic aciduria
Question: What is (are) argininosuccinic aciduria ?
Answer: Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.  Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen.  Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.
Source: GHR
Topic: argininosuccinic aciduria
Question: How many people are affected by argininosuccinic aciduria ?
Answer: Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns.
Source: GHR
Topic: argininosuccinic aciduria
Question: What are the genetic changes related to argininosuccinic aciduria ?
Answer: Mutations in the ASL gene cause argininosuccinic aciduria.  Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.  In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia.  Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver.
Source: GHR
Topic: argininosuccinic aciduria
Question: Is argininosuccinic aciduria 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: argininosuccinic aciduria
Question: What are the treatments for argininosuccinic aciduria ?
Answer: These resources address the diagnosis or management of argininosuccinic aciduria:  - Baby's First Test  - Gene Review: Gene Review: Argininosuccinate Lyase Deficiency  - Gene Review: Gene Review: Urea Cycle Disorders Overview  - Genetic Testing Registry: Argininosuccinate lyase deficiency  - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality   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: multiminicore disease
Question: How many people are affected by multiminicore disease ?
Answer: Multiminicore disease is thought to be a rare disorder, although its incidence is unknown.
Source: GHR
Topic: multiminicore disease
Question: What are the genetic changes related to multiminicore disease ?
Answer: Mutations in the RYR1 and SEPN1 genes cause multiminicore disease.  The severe, classic form of multiminicore disease is usually caused by mutations in the SEPN1 gene. This gene provides instructions for making a protein called selenoprotein N. Although its function is unknown, researchers suspect that this protein may play a role in the formation of muscle tissue before birth. It may also be important for normal muscle function after birth. It is unclear, however, how mutations in the SEPN1 gene lead to muscle weakness and the other features of multiminicore disease.  Atypical forms of multiminicore disease often result from mutations in the RYR1 gene. RYR1 mutations are also associated with an increased risk of malignant hyperthermia. This gene provides instructions for making a protein called ryanodine receptor 1, which plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. In response to certain signals, the ryanodine receptor 1 protein forms a channel that releases stored calcium ions within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract.  Mutations in the RYR1 gene change the structure and function of the ryanodine receptor 1 protein. Some mutations may lead to problems with regulation of the RYR1 channel, while other mutations appear to change the shape of the channel in such a way that calcium ions cannot flow through properly. A disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of multiminicore disease.  In some affected families, the genetic cause of the disorder has not been found. Mutations in genes other than SEPN1 and RYR1 may underlie the condition in these families.
Source: GHR
Topic: multiminicore disease
Question: Is multiminicore disease 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: multiminicore disease
Question: What are the treatments for multiminicore disease ?
Answer: These resources address the diagnosis or management of multiminicore disease:  - Gene Review: Gene Review: Multiminicore Disease  - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia  - Genetic Testing Registry: Minicore myopathy, antenatal onset, with arthrogryposis  - Genetic Testing Registry: Multiminicore Disease  - MedlinePlus Encyclopedia: Malignant Hyperthermia   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