Druvith/transformed_medDataset huggingface dataset:
What is (are) phosphoglycerate kinase deficiency ? 
 Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.  The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.  Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.
How many people are affected by phosphoglycerate kinase deficiency ? 
 Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature.
What are the genetic changes related to phosphoglycerate kinase deficiency ? 
 Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.  Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.
Is phosphoglycerate kinase deficiency inherited ? 
 This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. 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), a mutation would have to occur in both copies of the gene to cause the disorder. Females with one altered PGK1 gene, however, may have some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
What are the treatments for phosphoglycerate kinase deficiency ? 
 These resources address the diagnosis or management of phosphoglycerate kinase deficiency:  - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency  - Genetic Testing Registry: Deficiency of phosphoglycerate kinase  - Genetic Testing Registry: Phosphoglycerate kinase 1 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
What is (are) fumarase deficiency ? 
 Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood.
How many people are affected by fumarase deficiency ? 
 Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States.
What are the genetic changes related to fumarase deficiency ? 
 The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate.  Mutations in the FH gene disrupt the enzyme's ability to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle. Impairment of the process that generates energy for cells is particularly harmful to cells in the developing brain, and this impairment results in the signs and symptoms of fumarase deficiency.
Is fumarase deficiency inherited ? 
 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.
What are the treatments for fumarase deficiency ? 
 These resources address the diagnosis or management of fumarase deficiency:  - Gene Review: Gene Review: Fumarate Hydratase Deficiency  - Genetic Testing Registry: Fumarase 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
What is (are) 3-methylglutaconyl-CoA hydratase deficiency ? 
 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.  In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy), which likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).  Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.  All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid.
How many people are affected by 3-methylglutaconyl-CoA hydratase deficiency ? 
 3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature.
What are the genetic changes related to 3-methylglutaconyl-CoA hydratase deficiency ? 
 Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid is broken down in cell structures called mitochondria, which convert energy from food into a form that cells can use.  AUH gene mutations lead to an absence of enzyme activity. Without any functional 3-methylglutaconyl-CoA hydratase, leucine is not properly broken down, which leads to a buildup of related compounds, including multiple acids: 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. Researchers speculate that an accumulation of these acids in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF) can damage these structures and contribute to the neurological features of 3-methylglutaconyl-CoA hydratase deficiency.  Because the age at which the condition begins varies widely and because the signs and symptoms improve in some affected children, researchers speculate that other genes or environmental factors may play a role in the features of 3-methylglutaconyl-CoA hydratase deficiency.
Is 3-methylglutaconyl-CoA hydratase deficiency inherited ? 
 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.
What are the treatments for 3-methylglutaconyl-CoA hydratase deficiency ? 
 These resources address the diagnosis or management of 3-methylglutaconyl-CoA hydratase deficiency:  - Baby's First Test  - Genetic Testing Registry: 3-Methylglutaconic aciduria  - MedlinePlus Encyclopedia: Metabolic Acidosis   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
What is (are) fragile X-associated tremor/ataxia syndrome ? 
 Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS.  The characteristic features of FXTAS are intention tremor, which is trembling or shaking of a limb when trying to perform a voluntary movement such as reaching for an object, and problems with coordination and balance (ataxia). Typically intention tremors will develop first, followed a few years later by ataxia, although not everyone with FXTAS has both features. Many affected individuals develop other movement problems, such as a pattern of movement abnormalities known as parkinsonism, which includes tremors when not moving (resting tremor), rigidity, and unusually slow movement (bradykinesia). In addition, affected individuals may have reduced sensation, numbness or tingling, pain, or muscle weakness in the lower limbs. Some people with FXTAS experience problems with the autonomic nervous system, which controls involuntary body functions, leading to the inability to control the bladder or bowel.  People with FXTAS commonly have cognitive disabilities. They may develop short-term memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility. Many people with FXTAS experience anxiety, depression, moodiness, or irritability.  Some women develop immune system disorders, such as hypothyroidism or fibromyalgia, before the signs and symptoms of FXTAS appear.
How many people are affected by fragile X-associated tremor/ataxia syndrome ? 
 Studies show that approximately 1 in 450 males has the genetic change that leads to FXTAS, although the condition occurs in only about 40 percent of them. It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 females has the genetic change, but only an estimated 16 percent of them develop signs and symptoms of FXTAS.
What are the genetic changes related to fragile X-associated tremor/ataxia syndrome ? 
 Mutations in the FMR1 gene increase the risk of developing FXTAS. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. FMRP plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.  Individuals with FXTAS have a mutation in which a DNA segment, known as a CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with FXTAS, however, the CGG segment is repeated 55 to 200 times. This mutation is known as an FMR1 gene premutation. An expansion of more than 200 repeats, a full mutation, causes a more serious condition called fragile X syndrome, which is characterized by intellectual disability, learning problems, and certain physical features.  For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. The FMR1mRNA is the genetic blueprint for the production of FMRP. Researchers believe that the high levels of mRNA cause the signs and symptoms of FXTAS. The mRNA has been found in clumps of proteins and mRNA (intranuclear inclusions) in brain and nerve cells in people with FXTAS. It is thought that attaching to FMR1 mRNA and forming clumps keeps the other proteins from performing their functions, although the effect of the intranuclear inclusions is unclear. In addition, the repeat expansion makes producing FMRP from the mRNA blueprint more difficult, and as a result, people with the FMR1 gene premutation can have less FMRP than normal. A reduction in the protein is not thought to be involved in FXTAS. However, it may cause mild versions of the features seen in fragile X syndrome, such as prominent ears, anxiety, and mood swings.
Is fragile X-associated tremor/ataxia syndrome inherited ? 
 An increased risk of developing FXTAS is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXTAS. In females (who have two X chromosomes), a mutation in one of the two copies of the FMR1 gene in each cell can lead to the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell can result in the disorder. However, not all people who inherit an FMR1 premutation will develop FXTAS. In X-linked dominant disorders, males typically experience more severe symptoms than females.  Fewer females than males develop FXTAS because the X chromosome that contains the premutation may be turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may help determine the severity of FXTAS in females or whether they develop signs and symptoms of the condition.
What are the treatments for fragile X-associated tremor/ataxia syndrome ? 
 These resources address the diagnosis or management of FXTAS:  - Fragile X Research Foundation of Canada: FXTAS  - Gene Review: Gene Review: FMR1-Related Disorders  - Genetic Testing Registry: Fragile X tremor/ataxia syndrome  - Merck Manual Consumer Version   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
What is (are) Perry syndrome ? 
 Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.  Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease.  Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure.  People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.
How many people are affected by Perry syndrome ? 
 Perry syndrome is very rare; about 50 affected individuals have been reported worldwide.
What are the genetic changes related to Perry syndrome ? 
 Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain.  Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.
Is Perry syndrome inherited ? 
 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.  In most cases, an affected person inherits the mutation from one affected parent. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the treatments for Perry syndrome ? 
 These resources address the diagnosis or management of Perry syndrome:  - Gene Review: Gene Review: Perry Syndrome  - Genetic Testing Registry: Perry syndrome  - MedlinePlus Encyclopedia: Major Depression  - MedlinePlus Encyclopedia: Primary Alveolar Hypoventilation  - National Parkinson Foundation: Treatment   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
What is (are) von Hippel-Lindau syndrome ? 
 Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.  Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.  People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.  Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous if they develop during pregnancy.  About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.
How many people are affected by von Hippel-Lindau syndrome ? 
 The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.
What are the genetic changes related to von Hippel-Lindau syndrome ? 
 Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.