sarnsrun/medquad huggingface dataset:
Topic: CHMP2B-related frontotemporal dementia
Question: What are the genetic changes related to CHMP2B-related frontotemporal dementia ?
Answer: CHMP2B-related frontotemporal dementia results from mutations in the CHMP2B gene. This gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it plays an essential role in transporting proteins that need to be broken down (degraded).  Mutations in the CHMP2B gene lead to the production of an abnormal version of charged multivesicular body protein 2B. Most of the mutations that cause CHMP2B-related frontotemporal dementia result in the production of an abnormal protein that is missing a critical segment at one end. This segment keeps the protein turned off (inactive) when it is not needed. Without this segment, the protein is constantly turned on (active), which disrupts the transport and degradation of other proteins. These abnormalities ultimately lead to the death of nerve cells (neurons) in the brain.  A gradual loss of neurons throughout the brain is characteristic of CHMP2B-related frontotemporal dementia. Many of the features of this disease result from neuronal death in regions near the front of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. It is unclear why the signs and symptoms of this disease are related primarily to the frontal and temporal lobes.
Source: GHR
Topic: CHMP2B-related frontotemporal dementia
Question: Is CHMP2B-related frontotemporal dementia 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: CHMP2B-related frontotemporal dementia
Question: What are the treatments for CHMP2B-related frontotemporal dementia ?
Answer: These resources address the diagnosis or management of CHMP2B-related frontotemporal dementia:  - Family Caregiver Alliance  - Gene Review: Gene Review: Frontotemporal Dementia, Chromosome 3-Linked  - Genetic Testing Registry: Frontotemporal Dementia, Chromosome 3-Linked   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: Mowat-Wilson syndrome
Question: What is (are) Mowat-Wilson syndrome ?
Answer: Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.  Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age, and adults with Mowat-Wilson syndrome have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities.  Mowat-Wilson syndrome is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others' speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking.  More than half of people with Mowat-Wilson syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement of the colon. Chronic constipation also occurs frequently in people with Mowat-Wilson syndrome who have not been diagnosed with Hirschsprung disease.  Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with Mowat-Wilson syndrome, not every individual with this condition has all of these features.
Source: GHR
Topic: Mowat-Wilson syndrome
Question: How many people are affected by Mowat-Wilson syndrome ?
Answer: The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people with this condition have been reported in the medical literature.
Source: GHR
Topic: Mowat-Wilson syndrome
Question: What are the genetic changes related to Mowat-Wilson syndrome ?
Answer: Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs.  Mowat-Wilson syndrome almost always results from a loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.
Source: GHR
Topic: Mowat-Wilson syndrome
Question: Is Mowat-Wilson 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.
Source: GHR
Topic: Mowat-Wilson syndrome
Question: What are the treatments for Mowat-Wilson syndrome ?
Answer: These resources address the diagnosis or management of Mowat-Wilson syndrome:  - Gene Review: Gene Review: Mowat-Wilson Syndrome  - Genetic Testing Registry: Mowat-Wilson syndrome  - MedlinePlus Encyclopedia: Hirschsprung's Disease   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: molybdenum cofactor deficiency
Question: What is (are) molybdenum cofactor deficiency ?
Answer: Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."  Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood.  Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.
Source: GHR
Topic: molybdenum cofactor deficiency
Question: How many people are affected by molybdenum cofactor deficiency ?
Answer: Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher.
Source: GHR
Topic: molybdenum cofactor deficiency
Question: What are the genetic changes related to molybdenum cofactor deficiency ?
Answer: Molybdenum cofactor deficiency is caused by mutations in the MOCS1, MOCS2, or GPHN gene. There are three forms of the disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOCS2 gene mutations cause type B, and GPHN gene mutations cause type C. The proteins produced from each of these genes are involved in the formation (biosynthesis) of a molecule called molybdenum cofactor. Molybdenum cofactor, which contains the element molybdenum, is essential to the function of several enzymes. These enzymes help break down (metabolize) different substances in the body, some of which are toxic if not metabolized.  Mutations in the MOCS1, MOCS2, or GPHN gene reduce or eliminate the function of the associated protein, which impairs molybdenum cofactor biosynthesis. Without the cofactor, the metabolic enzymes that rely on it cannot function.  The resulting loss of enzyme activity leads to buildup of certain chemicals, including sulfite, S-sulfocysteine, xanthine, and hypoxanthine (which can be identified in urine), and low levels of uric acid in the blood. Sulfite, which is normally broken down by one of the molybdenum cofactor-dependent enzymes, is toxic, especially to the brain. Researchers suggest that damage caused by the abnormally high levels of sulfite (and possibly other chemicals) leads to encephalopathy, seizures, and the other features of molybdenum cofactor deficiency.
Source: GHR
Topic: molybdenum cofactor deficiency
Question: Is molybdenum cofactor deficiency inherited ?
Answer: Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition.  At least one individual with molybdenum cofactor deficiency inherited two mutated copies of the MOCS1 gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.
Source: GHR
Topic: molybdenum cofactor deficiency
Question: What are the treatments for molybdenum cofactor deficiency ?
Answer: These resources address the diagnosis or management of molybdenum cofactor deficiency:  - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency  - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A  - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group B  - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group C   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: retinoblastoma
Question: What is (are) retinoblastoma ?
Answer: Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.  In most children with retinoblastoma, the disease affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus); persistent eye pain, redness, or irritation; and blindness or poor vision in the affected eye(s).  Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening.  When retinoblastoma is associated with a gene mutation that occurs in all of the body's cells, it is known as germinal retinoblastoma. People with this form of retinoblastoma also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pinealoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues such as muscle, and an aggressive form of skin cancer called melanoma.
Source: GHR
Topic: retinoblastoma
Question: How many people are affected by retinoblastoma ?
Answer: Retinoblastoma is diagnosed in 250 to 350 children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years.
Source: GHR
Topic: retinoblastoma
Question: What are the genetic changes related to retinoblastoma ?
Answer: Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor. Some studies suggest that additional genetic changes can influence the development of retinoblastoma; these changes may help explain variations in the development and growth of tumors in different people.  A small percentage of retinoblastomas are caused by deletions in the region of chromosome 13 that contains the RB1 gene. Because these chromosomal changes involve several genes in addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).
Source: GHR
Topic: retinoblastoma
Question: Is retinoblastoma inherited ?
Answer: Researchers estimate that 40 percent of all retinoblastomas are germinal, which means that RB1 mutations occur in all of the body's cells, including reproductive cells (sperm or eggs). People with germinal retinoblastoma may have a family history of the disease, and they are at risk of passing on the mutated RB1 gene to the next generation. The other 60 percent of retinoblastomas are non-germinal, which means that RB1 mutations occur only in the eye and cannot be passed to the next generation.  In germinal retinoblastoma, mutations in the RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance suggests that one copy of the altered gene in each cell is sufficient to increase cancer risk. A person with germinal retinoblastoma may inherit an altered copy of the gene from one parent, or the altered gene may be the result of a new mutation that occurs in an egg or sperm cell or just after fertilization. For retinoblastoma to develop, a mutation involving the other copy of the RB1 gene must occur in retinal cells during the person's lifetime. This second mutation usually occurs in childhood, typically leading to the development of retinoblastoma in both eyes.  In the non-germinal form of retinoblastoma, typically only one eye is affected and there is no family history of the disease. Affected individuals are born with two normal copies of the RB1 gene. Then, usually in early childhood, both copies of the RB1 gene in retinal cells acquire mutations or are lost. People with non-germinal retinoblastoma are not at risk of passing these RB1 mutations to their children. However, without genetic testing it can be difficult to tell whether a person with retinoblastoma in one eye has the germinal or the non-germinal form of the disease.
Source: GHR
Topic: retinoblastoma
Question: What are the treatments for retinoblastoma ?
Answer: These resources address the diagnosis or management of retinoblastoma:  - Gene Review: Gene Review: Retinoblastoma  - Genetic Testing Registry: Retinoblastoma  - Genomics Education Programme (UK)  - MedlinePlus Encyclopedia: Retinoblastoma  - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes   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: Alexander disease
Question: What is (are) Alexander disease ?
Answer: Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.  Most cases of Alexander disease begin before age 2 and are described as the infantile form. Signs and symptoms of the infantile form typically include an enlarged brain and head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later in childhood (the juvenile form) or in adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, seizures, and poor coordination (ataxia). Rarely, a neonatal form of Alexander disease occurs within the first month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in the brain (hydrocephalus), and seizures.  Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord (central nervous system).
Source: GHR
Topic: Alexander disease
Question: How many people are affected by Alexander disease ?
Answer: The prevalence of Alexander disease is unknown. About 500 cases have been reported since the disorder was first described in 1949.
Source: GHR
Topic: Alexander disease
Question: What are the genetic changes related to Alexander disease ?
Answer: Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the production of a structurally altered glial fibrillary acidic protein. The altered protein is thought to impair the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein likely accumulates in astroglial cells, leading to the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal formation or maintenance of myelin, leading to the signs and symptoms of Alexander disease.
Source: GHR
Topic: Alexander disease
Question: Is Alexander disease 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.  Most cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Rarely, an affected person inherits the mutation from one affected parent.
Source: GHR
Topic: Alexander disease
Question: What are the treatments for Alexander disease ?
Answer: These resources address the diagnosis or management of Alexander disease:  - Gene Review: Gene Review: Alexander Disease  - Genetic Testing Registry: Alexander's disease  - MedlinePlus Encyclopedia: Myelin   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: 9q22.3 microdeletion
Question: What is (are) 9q22.3 microdeletion ?
Answer: 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.  Many individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. In some people, the delays are temporary and improve in childhood. More severely affected individuals have permanent developmental disabilities along with intellectual impairment and learning problems. Rarely, seizures have been reported in people with a 9q22.3 microdeletion.  About 20 percent of people with a 9q22.3 microdeletion experience overgrowth (macrosomia), which results in increased height and weight compared to unaffected peers. The macrosomia often begins before birth and continues into childhood. Other physical changes that can be associated with a 9q22.3 microdeletion include the premature fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). Affected individuals can also have distinctive facial features such as a prominent forehead with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip (philtrum).  9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome). This genetic condition affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Most people with this condition also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors, which can cause facial swelling and tooth displacement. Other types of tumors that occur more often in people with Gorlin syndrome include a form of childhood brain cancer called a medulloblastoma and a type of benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull.
Source: GHR
Topic: 9q22.3 microdeletion
Question: How many people are affected by 9q22.3 microdeletion ?
Answer: 9q22.3 microdeletion appears to be a rare chromosomal change. About three dozen affected individuals have been reported in the medical literature.
Source: GHR