sarnsrun/medquad huggingface dataset:
Topic: Perry syndrome
Question: What is (are) Perry syndrome ?
Answer: 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.
Source: GHR
Topic: Perry syndrome
Question: How many people are affected by Perry syndrome ?
Answer: Perry syndrome is very rare; about 50 affected individuals have been reported worldwide.
Source: GHR
Topic: Perry syndrome
Question: What are the genetic changes related to Perry syndrome ?
Answer: 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.
Source: GHR
Topic: Perry syndrome
Question: Is Perry syndrome 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.  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.
Source: GHR
Topic: Perry syndrome
Question: What are the treatments for Perry syndrome ?
Answer: 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
Source: GHR
Topic: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Question: What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?
Answer: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. Most patients with IPEX syndrome are males, and the disease can be life-threatening in early childhood.  Almost all individuals with IPEX syndrome develop a disorder of the intestines called enteropathy. Enteropathy occurs when certain cells in the intestines are destroyed by a person's immune system. It causes severe diarrhea, which is usually the first symptom of IPEX syndrome. Enteropathy typically begins in the first few months of life. It can cause failure to gain weight and grow at the expected rate (failure to thrive) and general wasting and weight loss (cachexia).  People with IPEX syndrome frequently develop inflammation of the skin, called dermatitis. Eczema is the most common type of dermatitis that occurs in this syndrome, and it causes abnormal patches of red, irritated skin. Other skin disorders that cause similar symptoms are sometimes present in IPEX syndrome.  The term polyendocrinopathy is used in IPEX syndrome because individuals can develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune condition involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome. It usually develops within the first few months of life and prevents the body from properly controlling the amount of sugar in the blood. Autoimmune thyroid disease may also develop in people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. This gland is commonly underactive (hypothyroidism) in individuals with this disorder, but may become overactive (hyperthyroidism).  Individuals with IPEX syndrome typically develop other types of autoimmune disorders in addition to those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; about half of affected individuals have low levels of red blood cells (anemia), platelets (thrombocytopenia), or white blood cells (neutropenia) because these cells are attacked by the immune system. In some individuals, IPEX syndrome involves the liver and kidneys.
Source: GHR
Topic: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Question: How many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?
Answer: IPEX syndrome is a rare disorder; its prevalence is unknown.
Source: GHR
Topic: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Question: What are the genetic changes related to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?
Answer: Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Regulatory T cells play an important role in controlling the immune system and preventing autoimmune disorders. Mutations in the FOXP3 gene lead to reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome.  About half of individuals diagnosed with IPEX syndrome do not have identified mutations in the FOXP3 gene. In these cases, the cause of the disorder is unknown.
Source: GHR
Topic: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Question: Is immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome inherited ?
Answer: When IPEX syndrome is due to mutations in the FOXP3 gene, it is inherited in an X-linked recessive pattern. The FOXP3 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 must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Some people have a condition that appears identical to IPEX syndrome, but they do not have mutations in the FOXP3 gene. The inheritance pattern for this IPEX-like syndrome is unknown, but females can be affected.
Source: GHR
Topic: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Question: What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?
Answer: These resources address the diagnosis or management of IPEX syndrome:  - Gene Review: Gene Review: IPEX Syndrome  - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome  - Seattle Children's Hospital   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: infantile neuroaxonal dystrophy
Question: What is (are) infantile neuroaxonal dystrophy ?
Answer: Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly.  Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement. They generally have muscles that are at first weak and "floppy" (hypotonic), and then gradually become very stiff (spastic). Eventually, affected children lose the ability to move independently. Lack of muscle strength causes difficulty with feeding. Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children.  Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the nerve that carries information from the eye to the brain (the optic nerve) often occur in infantile neuroaxonal dystrophy. Hearing loss may also develop. Children with this disorder experience progressive deterioration of cognitive functions (dementia), and they eventually lose awareness of their surroundings.  Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons. In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. The relationship of these features to the symptoms of infantile neuroaxonal dystrophy is unknown.
Source: GHR
Topic: infantile neuroaxonal dystrophy
Question: How many people are affected by infantile neuroaxonal dystrophy ?
Answer: Infantile neuroaxonal dystrophy is a very rare disorder. Its specific incidence is unknown.
Source: GHR
Topic: infantile neuroaxonal dystrophy
Question: What are the genetic changes related to infantile neuroaxonal dystrophy ?
Answer: Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, including helping to keep the cell membrane intact and functioning properly. Specifically, the A2 phospholipase produced from the PLA2G6 gene, sometimes called PLA2 group VI, helps to regulate the levels of a compound called phosphatidylcholine, which is abundant in the cell membrane.  Mutations in the PLA2G6 gene impair the function of the PLA2 group VI enzyme, which may disrupt cell membrane maintenance and contribute to the development of spheroid bodies in the nerve axons. Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder and a similar disorder called pantothenate kinase-associated neurodegeneration. These disorders, as well as the more common Alzheimer disease and Parkinson disease, also are associated with changes in brain iron metabolism. Researchers are studying the links between phospholipid defects, brain iron, and damage to nerve cells, but have not determined how the iron accumulation that occurs in some individuals with infantile neuroaxonal dystrophy may contribute to the features of this disorder.  A few individuals with infantile neuroaxonal dystrophy have not been found to have mutations in the PLA2G6 gene. The genetic cause of the condition in these cases is unknown; there is evidence that at least one other unidentified gene may be involved.
Source: GHR
Topic: infantile neuroaxonal dystrophy
Question: Is infantile neuroaxonal dystrophy 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: infantile neuroaxonal dystrophy
Question: What are the treatments for infantile neuroaxonal dystrophy ?
Answer: These resources address the diagnosis or management of infantile neuroaxonal dystrophy:  - Gene Review: Gene Review: PLA2G6-Associated Neurodegeneration  - Genetic Testing Registry: Infantile neuroaxonal 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: ethylmalonic encephalopathy
Question: What is (are) ethylmalonic encephalopathy ?
Answer: Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.  The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. A few children with a milder, chronic form of this disorder have been reported.
Source: GHR
Topic: ethylmalonic encephalopathy
Question: How many people are affected by ethylmalonic encephalopathy ?
Answer: About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders.
Source: GHR
Topic: ethylmalonic encephalopathy
Question: What are the genetic changes related to ethylmalonic encephalopathy ?
Answer: Mutations in the ETHE1 gene cause ethylmalonic encephalopathy.  The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about the enzyme's exact function, however.  Mutations in the ETHE1 gene lead to the production of a nonfunctional version of the enzyme or prevent any enzyme from being made. A lack of the ETHE1 enzyme impairs the body's ability to make energy in mitochondria. Additionally, a loss of this enzyme allows potentially toxic compounds, including ethylmalonic acid and lactic acid, to build up in the body. Excess amounts of these compounds can be detected in urine. It remains unclear how a loss of the ETHE1 enzyme leads to progressive brain dysfunction and the other features of ethylmalonic encephalopathy.
Source: GHR
Topic: ethylmalonic encephalopathy
Question: Is ethylmalonic encephalopathy 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: ethylmalonic encephalopathy
Question: What are the treatments for ethylmalonic encephalopathy ?
Answer: These resources address the diagnosis or management of ethylmalonic encephalopathy:  - Baby's First Test  - Genetic Testing Registry: Ethylmalonic encephalopathy  - MedlinePlus Encyclopedia: Skin discoloration - bluish   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: trimethylaminuria
Question: What is (are) trimethylaminuria ?
Answer: Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.
Source: GHR
Topic: trimethylaminuria
Question: How many people are affected by trimethylaminuria ?
Answer: Trimethylaminuria is an uncommon genetic disorder; its incidence is unknown.
Source: GHR
Topic: trimethylaminuria
Question: What are the genetic changes related to trimethylaminuria ?
Answer: Mutations in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of proteins from eggs, liver, legumes (such as soybeans and peas), certain kinds of fish, and other foods. Normally, the FMO3 enzyme converts strong-smelling trimethylamine into another molecule that has no odor. If the enzyme is missing or its activity is reduced because of a mutation in the FMO3 gene, trimethylamine is not processed properly and can build up in the body. As excess trimethylamine is released in a person's sweat, urine, and breath, it causes the odor characteristic of trimethylaminuria. Researchers believe that stress and diet also play a role in triggering symptoms.  Although FMO3 gene mutations account for most cases of trimethylaminuria, the condition can also be caused by other factors. The strong body odor may result from an excess of certain proteins in the diet or from an abnormal increase in bacteria that produce trimethylamine in the digestive system. A few cases of the disorder have been identified in adults with liver or kidney disease. Temporary symptoms of this condition have been reported in a small number of premature infants and in some healthy women at the start of menstruation.
Source: GHR
Topic: trimethylaminuria
Question: Is trimethylaminuria inherited ?
Answer: Most cases of trimethylaminuria appear to be 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 typically do not show signs and symptoms of the condition. Carriers of an FMO3 mutation, however, may have mild symptoms of trimethylaminuria or experience temporary episodes of strong body odor.
Source: GHR
Topic: trimethylaminuria
Question: What are the treatments for trimethylaminuria ?
Answer: These resources address the diagnosis or management of trimethylaminuria:  - Gene Review: Gene Review: Primary Trimethylaminuria  - Genetic Testing Registry: Trimethylaminuria  - Monell Chemical Senses Center: TMAU & Body Malodors  - National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria   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: Beare-Stevenson cutis gyrata syndrome
Question: What is (are) Beare-Stevenson cutis gyrata syndrome ?
Answer: Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.  Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.  A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.  Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.
Source: GHR
Topic: Beare-Stevenson cutis gyrata syndrome
Question: How many people are affected by Beare-Stevenson cutis gyrata syndrome ?
Answer: Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.
Source: GHR