sarnsrun/medquad huggingface dataset:
Topic: xeroderma pigmentosum
Question: What are the genetic changes related to xeroderma pigmentosum ?
Answer: Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems. However, in people with xeroderma pigmentosum, DNA damage is not repaired normally. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die.  Many of the genes related to xeroderma pigmentosum are part of a DNA-repair process known as nucleotide excision repair (NER). The proteins produced from these genes play a variety of roles in this process. They recognize DNA damage, unwind regions of DNA where the damage has occurred, snip out (excise) the abnormal sections, and replace the damaged areas with the correct DNA. Inherited abnormalities in the NER-related genes prevent cells from carrying out one or more of these steps. The POLH gene also plays a role in protecting cells from UV-induced DNA damage, although it is not involved in NER; mutations in this gene cause the variant type of xeroderma pigmentosum.  The major features of xeroderma pigmentosum result from a buildup of unrepaired DNA damage. When UV rays damage genes that control cell growth and division, cells can either die or grow too fast and in an uncontrolled way. Unregulated cell growth can lead to the development of cancerous tumors. Neurological abnormalities are also thought to result from an accumulation of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not.  Inherited mutations in at least eight genes have been found to cause xeroderma pigmentosum. More than half of all cases in the United States result from mutations in the XPC, ERCC2, or POLH genes. Mutations in the other genes generally account for a smaller percentage of cases.
Source: GHR
Topic: xeroderma pigmentosum
Question: Is xeroderma pigmentosum 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: xeroderma pigmentosum
Question: What are the treatments for xeroderma pigmentosum ?
Answer: These resources address the diagnosis or management of xeroderma pigmentosum:  - American Cancer Society: How are Squamous and Basal Cell Skin Cancer Diagnosed?  - American Cancer Society: How is Melanoma Diagnosed?  - Gene Review: Gene Review: Xeroderma Pigmentosum  - Genetic Testing Registry: Xeroderma pigmentosum  - Genetic Testing Registry: Xeroderma pigmentosum, complementation group b  - Genetic Testing Registry: Xeroderma pigmentosum, group C  - Genetic Testing Registry: Xeroderma pigmentosum, group D  - Genetic Testing Registry: Xeroderma pigmentosum, group E  - Genetic Testing Registry: Xeroderma pigmentosum, group F  - Genetic Testing Registry: Xeroderma pigmentosum, group G  - Genetic Testing Registry: Xeroderma pigmentosum, type 1  - Genetic Testing Registry: Xeroderma pigmentosum, variant type  - MedlinePlus Encyclopedia: Xeroderma Pigmentosum  - National Cancer Institute: Melanoma Treatment  - National Cancer Institute: Skin Cancer Treatment  - Xeroderma Pigmentosum Society, Inc.: Beta Carotene  - Xeroderma Pigmentosum Society, Inc.: Ultraviolet Radiation and Protection   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: Baller-Gerold syndrome
Question: What is (are) Baller-Gerold syndrome ?
Answer: Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.  People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose.  Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.  People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma.  The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.
Source: GHR
Topic: Baller-Gerold syndrome
Question: How many people are affected by Baller-Gerold syndrome ?
Answer: The prevalence of Baller-Gerold syndrome is unknown, but this rare condition probably affects fewer than 1 per million people. Fewer than 40 cases have been reported in the medical literature.
Source: GHR
Topic: Baller-Gerold syndrome
Question: What are the genetic changes related to Baller-Gerold syndrome ?
Answer: Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA.  Mutations in the RECQL4 gene prevent cells from producing any RECQL4 protein or change the way the protein is pieced together, which disrupts its usual function. A shortage of this protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the signs and symptoms of Baller-Gerold syndrome.  This condition has been associated with prenatal (before birth) exposure to a drug called sodium valproate. This medication is used to treat epilepsy and certain psychiatric disorders. Some infants whose mothers took sodium valproate during pregnancy were born with the characteristic features of Baller-Gerold syndrome, such as an unusual skull shape, distinctive facial features, and abnormalities of the arms and hands. However, it is unclear if exposure to the medication caused the condition.
Source: GHR
Topic: Baller-Gerold syndrome
Question: Is Baller-Gerold 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: Baller-Gerold syndrome
Question: What are the treatments for Baller-Gerold syndrome ?
Answer: These resources address the diagnosis or management of Baller-Gerold syndrome:  - Gene Review: Gene Review: Baller-Gerold Syndrome  - Genetic Testing Registry: Baller-Gerold syndrome  - MedlinePlus Encyclopedia: Craniosynostosis  - MedlinePlus Encyclopedia: Skull of a Newborn (image)   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: Koolen-de Vries syndrome
Question: What is (are) Koolen-de Vries syndrome ?
Answer: Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).  Affected individuals often have distinctive facial features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Vries syndrome often have undescended testes (cryptorchidism). Defects in the walls between the chambers of the heart (septal defects) or other cardiac abnormalities, kidney problems, and skeletal anomalies such as foot deformities occur in some affected individuals.
Source: GHR
Topic: Koolen-de Vries syndrome
Question: How many people are affected by Koolen-de Vries syndrome ?
Answer: The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. However, the underlying genetic cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed.
Source: GHR
Topic: Koolen-de Vries syndrome
Question: What are the genetic changes related to Koolen-de Vries syndrome ?
Answer: Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. This type of genetic abnormality is called a microdeletion. A small number of individuals with Koolen-de Vries syndrome do not have a chromosome 17 microdeletion but instead have a mutation within the KANSL1 gene that causes one copy of the gene to be nonfunctional.  The microdeletion that causes Koolen-de Vries syndrome occurs on the long (q) arm of chromosome 17 at a location designated q21.31. While the exact size of the deletion varies among affected individuals, most are missing a sequence of about 500,000 DNA building blocks (base pairs) containing several genes. However, because individuals with KANSL1 gene mutations have the same signs and symptoms as those with the microdeletion, researchers have concluded that the loss of this gene accounts for the features of this disorder.  The KANSL1 gene provides instructions for making a protein that helps regulate gene activity (expression) by modifying chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The protein produced from the KANSL1 gene is found in most organs and tissues of the body before birth and throughout life. By its involvement in controlling the activity of other genes, this protein plays an important role in the development and function of many parts of the body. Loss of one copy of this gene impairs normal development and function, but the relationship of KANSL1 gene loss to the specific signs and symptoms of Koolen-de Vries syndrome is unclear.
Source: GHR
Topic: Koolen-de Vries syndrome
Question: Is Koolen-de Vries syndrome inherited ?
Answer: Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder. In most cases, the disorder is not inherited. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. While it is possible for them to pass the condition on to their children, no individuals with Koolen-de Vries syndrome have been known to reproduce.  Most people with Koolen-de Vries syndrome caused by a deletion have had at least one parent with a common variant of the 17q21.31 region of chromosome 17 called the H2 lineage. This variant is found in 20 percent of people of European and Middle Eastern descent, although it is rare in other populations. In the H2 lineage, a 900 kb segment of DNA, which includes the region deleted in most cases of Koolen-de Vries syndrome, has undergone an inversion. An inversion involves two breaks in a chromosome; the resulting piece of DNA is reversed and reinserted into the chromosome.  People with the H2 lineage have no health problems related to the inversion. However, genetic material can be lost or duplicated when the inversion is passed to the next generation. Other, unknown factors are thought to play a role in this process. So while the inversion is very common, only an extremely small percentage of parents with the inversion have a child affected by Koolen-de Vries syndrome.
Source: GHR
Topic: Koolen-de Vries syndrome
Question: What are the treatments for Koolen-de Vries syndrome ?
Answer: These resources address the diagnosis or management of Koolen-de Vries syndrome:  - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome  - Genetic Testing Registry: Koolen-de Vries 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: sudden infant death with dysgenesis of the testes syndrome
Question: What is (are) sudden infant death with dysgenesis of the testes syndrome ?
Answer: Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.  Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal.  SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx).  The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).
Source: GHR
Topic: sudden infant death with dysgenesis of the testes syndrome
Question: How many people are affected by sudden infant death with dysgenesis of the testes syndrome ?
Answer: SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community.
Source: GHR
Topic: sudden infant death with dysgenesis of the testes syndrome
Question: What are the genetic changes related to sudden infant death with dysgenesis of the testes syndrome ?
Answer: A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain.  The TSPYL1 gene mutation that causes SIDDT eliminates the function of TSPY-like 1. The loss of this protein's function appears to cause the major features of the disorder by disrupting the normal development of the male reproductive system and the brain, particularly the brainstem.  Research findings suggest that mutations in the TSPYL1 gene are not associated with sudden infant death syndrome (SIDS) in the general population. SIDS is a major cause of death in children younger than 1 year.
Source: GHR
Topic: sudden infant death with dysgenesis of the testes syndrome
Question: Is sudden infant death with dysgenesis of the testes 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: sudden infant death with dysgenesis of the testes syndrome
Question: What are the treatments for sudden infant death with dysgenesis of the testes syndrome ?
Answer: These resources address the diagnosis or management of SIDDT:  - Clinic for Special Children (Strasburg, Pennsylvania)  - Genetic Testing Registry: Sudden infant death with dysgenesis of the testes 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: mitochondrial membrane protein-associated neurodegeneration
Question: What is (are) mitochondrial membrane protein-associated neurodegeneration ?
Answer: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time.  MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop other movement problems, including muscle stiffness (spasticity) and involuntary muscle cramping (dystonia). Many people with MPAN have a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, involuntary trembling (tremors), and an inability to hold the body upright and balanced (postural instability).  Other neurological problems that occur in individuals with MPAN include degeneration of the nerve cells that carry visual information from the eyes to the brain (optic atrophy), which can impair vision; problems with speech (dysarthria); difficulty swallowing (dysphagia); and, in later stages of the condition, an inability to control the bowels or the flow of urine (incontinence). Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, mood swings, hyperactivity, and depression.  MPAN is characterized by an abnormal buildup of iron in certain regions of the brain. Because of these deposits, MPAN is considered part of a group of conditions known as neurodegeneration with brain iron accumulation (NBIA).
Source: GHR
Topic: mitochondrial membrane protein-associated neurodegeneration
Question: How many people are affected by mitochondrial membrane protein-associated neurodegeneration ?
Answer: MPAN is a rare condition that is estimated to affect less than 1 in 1 million people.
Source: GHR
Topic: mitochondrial membrane protein-associated neurodegeneration
Question: What are the genetic changes related to mitochondrial membrane protein-associated neurodegeneration ?
Answer: Mutations in the C19orf12 gene cause MPAN. The protein produced from this gene is found in the membrane of cellular structures called mitochondria, which are the energy-producing centers of the cell. Although its function is unknown, researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (lipid) molecules, a process known as lipid homeostasis.  The gene mutations that cause this condition lead to an altered C19orf12 protein that likely has little or no function. It is unclear how these genetic changes lead to the neurological problems associated with MPAN. Researchers are working to determine whether there is a link between problems with lipid homeostasis and brain iron accumulation and how these abnormalities might contribute to the features of this disorder.
Source: GHR
Topic: mitochondrial membrane protein-associated neurodegeneration
Question: Is mitochondrial membrane protein-associated neurodegeneration 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: mitochondrial membrane protein-associated neurodegeneration
Question: What are the treatments for mitochondrial membrane protein-associated neurodegeneration ?
Answer: These resources address the diagnosis or management of mitochondrial membrane protein-associated neurodegeneration:  - Gene Review: Gene Review: Mitochondrial Membrane Protein-Associated Neurodegeneration  - Gene Review: Gene Review: Neurodegeneration with Brain Iron Accumulation Disorders Overview  - Genetic Testing Registry: Neurodegeneration with brain iron accumulation 4  - Spastic Paraplegia Foundation: 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