sarnsrun/medquad huggingface dataset:
Topic: tyrosinemia
Question: What are the genetic changes related to tyrosinemia ?
Answer: Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively.  In the liver, enzymes break down tyrosine in a five step process, resulting in molecules that are either excreted by the kidneys or used to produce energy or make other substances in the body. The FAH gene provides instructions for the fumarylacetoacetate hydrolase enzyme, which is responsible for the final step of tyrosine breakdown. The enzyme produced from the TAT gene, called tyrosine aminotransferase enzyme, is involved at the first step in the process. The HPD gene provides instructions for making the 4-hydroxyphenylpyruvate dioxygenase enzyme, which is responsible for the second step.  Mutations in the FAH, TAT, or HPD gene cause a decrease in the activity of one of the enzymes in the breakdown of tyrosine. As a result, tyrosine and its byproducts accumulate to toxic levels, which can cause damage and death to cells in the liver, kidneys, nervous system, and other organs.
Source: GHR
Topic: tyrosinemia
Question: Is tyrosinemia 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: tyrosinemia
Question: What are the treatments for tyrosinemia ?
Answer: These resources address the diagnosis or management of tyrosinemia:  - Baby's First Test: Tyrosinemia, Type I  - Baby's First Test: Tyrosinemia, Type II  - Baby's First Test: Tyrosinemia, Type III  - Gene Review: Gene Review: Tyrosinemia Type I  - Genetic Testing Registry: 4-Hydroxyphenylpyruvate dioxygenase deficiency  - Genetic Testing Registry: Tyrosinemia type 2  - Genetic Testing Registry: Tyrosinemia type I  - MedlinePlus Encyclopedia: Aminoaciduria   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: Angelman syndrome
Question: What is (are) Angelman syndrome ?
Answer: Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.  Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.  With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.
Source: GHR
Topic: Angelman syndrome
Question: How many people are affected by Angelman syndrome ?
Answer: Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.
Source: GHR
Topic: Angelman syndrome
Question: What are the genetic changes related to Angelman syndrome ?
Answer: Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain.  Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene.  In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. This phenomenon is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15.  The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the disorder in these cases.  In some people who have Angelman syndrome, the loss of a gene called OCA2 is associated with light-colored hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. However, loss of the OCA2 gene does not cause the other signs and symptoms of Angelman syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes.
Source: GHR
Topic: Angelman syndrome
Question: Is Angelman syndrome inherited ?
Answer: Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.  Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.
Source: GHR
Topic: Angelman syndrome
Question: What are the treatments for Angelman syndrome ?
Answer: These resources address the diagnosis or management of Angelman syndrome:  - Gene Review: Gene Review: Angelman Syndrome  - Genetic Testing Registry: Angelman syndrome  - MedlinePlus Encyclopedia: Speech Disorders   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: deafness-dystonia-optic neuronopathy syndrome
Question: What is (are) deafness-dystonia-optic neuronopathy syndrome ?
Answer: Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjrg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.  The first symptom of DDON syndrome is hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), which begins in early childhood. The hearing impairment worsens over time, and most affected individuals have profound hearing loss by age 10.  People with DDON syndrome typically begin to develop problems with movement during their teens, although the onset of these symptoms varies among affected individuals. Some people experience involuntary tensing of the muscles (dystonia), while others have difficulty coordinating movements (ataxia). The problems with movement usually worsen over time.  Individuals with DDON syndrome have normal vision during childhood, but they may begin to develop an increased sensitivity to light (photophobia) or other vision problems during their teens. These people often have a slowly progressive reduction in the sharpness of vision (visual acuity) and become legally blind in mid-adulthood.  People with this condition may also have behavior problems, including changes in personality and aggressive or paranoid behaviors. They also usually develop a gradual decline in thinking and reasoning abilities (dementia) in their forties. The lifespan of individuals with DDON syndrome depends on the severity of the disorder. People with severe cases have survived into their teenage years, while those with milder cases have lived into their sixties.
Source: GHR
Topic: deafness-dystonia-optic neuronopathy syndrome
Question: How many people are affected by deafness-dystonia-optic neuronopathy syndrome ?
Answer: DDON syndrome is a rare disorder; it has been reported in fewer than 70 people worldwide.
Source: GHR
Topic: deafness-dystonia-optic neuronopathy syndrome
Question: What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ?
Answer: Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other proteins within the mitochondria.  Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. Researchers believe that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.
Source: GHR
Topic: deafness-dystonia-optic neuronopathy syndrome
Question: Is deafness-dystonia-optic neuronopathy syndrome inherited ?
Answer: DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition 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 DDON syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the TIMM8A gene are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Source: GHR
Topic: deafness-dystonia-optic neuronopathy syndrome
Question: What are the treatments for deafness-dystonia-optic neuronopathy syndrome ?
Answer: These resources address the diagnosis or management of deafness-dystonia-optic neuronopathy syndrome:  - Gene Review: Gene Review: Deafness-Dystonia-Optic Neuronopathy Syndrome  - Genetic Testing Registry: Mohr-Tranebjaerg syndrome   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: myosin storage myopathy
Question: What is (are) myosin storage myopathy ?
Answer: Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.
Source: GHR
Topic: myosin storage myopathy
Question: How many people are affected by myosin storage myopathy ?
Answer: Myosin storage myopathy is a rare condition. Its prevalence is unknown.
Source: GHR
Topic: myosin storage myopathy
Question: What are the genetic changes related to myosin storage myopathy ?
Answer: Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses for movement. Cardiac -myosin heavy chain is the major component of the thick filament in muscle cell structures called sarcomeres. Sarcomeres, which are made up of thick and thin filaments, are the basic units of muscle contraction. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract.  Mutations in the MYH7 gene lead to the production of an altered cardiac -myosin heavy chain protein, which is thought to be less able to form thick filaments. The altered proteins accumulate in type I skeletal muscle fibers, forming the protein clumps characteristic of the disorder. It is unclear how these changes lead to muscle weakness in people with myosin storage myopathy.
Source: GHR
Topic: myosin storage myopathy
Question: Is myosin storage myopathy 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: myosin storage myopathy
Question: What are the treatments for myosin storage myopathy ?
Answer: These resources address the diagnosis or management of myosin storage myopathy:  - Genetic Testing Registry: Myosin storage myopathy   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: Troyer syndrome
Question: What is (are) Troyer syndrome ?
Answer: Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia.  People with Troyer syndrome can experience a variety of signs and symptoms. The most common characteristics of Troyer syndrome are spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings. Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, and a bending outward (valgus) of the knees.  Troyer syndrome causes the degeneration and death of muscle cells and motor neurons (specialized nerve cells that control muscle movement) throughout a person's lifetime, leading to a slow progressive decline in muscle and nerve function. The severity of impairment related to Troyer syndrome increases as a person ages. Most affected individuals require a wheelchair by the time they are in their fifties or sixties.
Source: GHR
Topic: Troyer syndrome
Question: How many people are affected by Troyer syndrome ?
Answer: About 20 cases of Troyer syndrome have been reported in the Old Order Amish population of Ohio. It has not been found outside this population.
Source: GHR
Topic: Troyer syndrome
Question: What are the genetic changes related to Troyer syndrome ?
Answer: Troyer syndrome is caused by a mutation in the SPG20 gene. The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.
Source: GHR
Topic: Troyer syndrome
Question: Is Troyer syndrome 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: Troyer syndrome
Question: What are the treatments for Troyer syndrome ?
Answer: These resources address the diagnosis or management of Troyer syndrome:  - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview  - Gene Review: Gene Review: Troyer Syndrome  - Genetic Testing Registry: Troyer syndrome  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   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: Wolf-Hirschhorn syndrome
Question: What is (are) Wolf-Hirschhorn syndrome ?
Answer: Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.  Almost everyone with this disorder has distinctive facial features, including a broad, flat nasal bridge and a high forehead. This combination is described as a "Greek warrior helmet" appearance. The eyes are widely spaced and may be protruding. Other characteristic facial features include a shortened distance between the nose and upper lip (a short philtrum), a downturned mouth, a small chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of skin (tags). Additionally, affected individuals may have asymmetrical facial features and an unusually small head (microcephaly).  People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, and walking are significantly delayed. Most children and adults with this disorder also have short stature.  Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual disability, their socialization skills are strong, while verbal communication and language skills tend to be weaker. Most affected children also have seizures, which may be resistant to treatment. Seizures tend to disappear with age.  Additional features of Wolf-Hirschhorn syndrome include skin changes such as mottled or dry skin, skeletal abnormalities such as abnormal curvature of the spine (scoliosis and kyphosis), dental problems including missing teeth, and an opening in the roof of the mouth (cleft palate) and/or in the lip (cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, genitourinary tract, and brain.  A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms.
Source: GHR
Topic: Wolf-Hirschhorn syndrome
Question: How many people are affected by Wolf-Hirschhorn syndrome ?
Answer: The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed.  For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males.
Source: GHR
Topic: Wolf-Hirschhorn syndrome
Question: What are the genetic changes related to Wolf-Hirschhorn syndrome ?
Answer: Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions.  The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. WHSC1, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. These genes play significant roles in early development, although many of their specific functions are unknown. Researchers believe that loss of the WHSC1 gene is associated with many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. Deletion of the LETM1 gene appears to be associated with seizures or other abnormal electrical activity in the brain. A loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen with this condition.  Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome.
Source: GHR