Druvith/medqa huggingface dataset:
What are the genetic changes related to nonsyndromic holoprosencephaly ? 

Mutations in 11 genes have been found to cause nonsyndromic holoprosencephaly. These genes provide instructions for making proteins that are important for normal embryonic development, particularly for determining the shape of the brain and face. About 25 percent of people with nonsyndromic holoprosencephaly have a mutation in one of these four genes: SHH, ZIC2, SIX3, or TGIF1. Mutations in the other genes related to nonsyndromic holoprosencephaly are found in only a small percentage of cases. Many individuals with this condition do not have an identified gene mutation. The cause of the disorder is unknown in these individuals.  The brain normally divides into right and left hemispheres during the third to fourth week of pregnancy. To establish the line that separates the two hemispheres (the midline), the activity of many genes must be tightly regulated and coordinated. These genes provide instructions for making signaling proteins, which instruct the cells within the brain to form the right and left hemispheres.  Signaling proteins are also important for the formation of the eyes. During early development, the cells that develop into the eyes form a single structure called the eye field. This structure is located in the center of the developing face. The signaling protein produced from the SHH gene causes the eye field to separate into two distinct eyes. The SIX3 gene is involved in the formation of the lens of the eye and the specialized tissue at the back of the eye that detects light and color (the retina).  Mutations in the genes that cause nonsyndromic holoprosencephaly lead to the production of abnormal or nonfunctional signaling proteins. Without the correct signals, the eyes will not form normally and the brain does not separate into two hemispheres. The development of other parts of the face is affected if the eyes do not move to their proper position. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face.  Researchers believe that other genetic or environmental factors, many of which have not been identified, play a role in determining the severity of nonsyndromic holoprosencephaly.
Is nonsyndromic holoprosencephaly inherited ? 

Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition.  In some cases, an affected person inherits the mutation from one parent who may or may not have mild features of the condition. Other cases result from a new gene mutation and occur in people with no history of the disorder in their family.
What are the treatments for nonsyndromic holoprosencephaly ? 

These resources address the diagnosis or management of nonsyndromic holoprosencephaly:  - Gene Review: Gene Review: Holoprosencephaly Overview  - Genetic Testing Registry: Holoprosencephaly 1  - Genetic Testing Registry: Holoprosencephaly 10  - Genetic Testing Registry: Holoprosencephaly 2  - Genetic Testing Registry: Holoprosencephaly 3  - Genetic Testing Registry: Holoprosencephaly 4  - Genetic Testing Registry: Holoprosencephaly 5  - Genetic Testing Registry: Holoprosencephaly 6  - Genetic Testing Registry: Holoprosencephaly 7  - Genetic Testing Registry: Holoprosencephaly 8  - Genetic Testing Registry: Holoprosencephaly 9  - Genetic Testing Registry: Holoprosencephaly sequence  - Genetic Testing Registry: NODAL-Related Holoprosencephaly   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) succinic semialdehyde dehydrogenase deficiency ? 

Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.
How many people are affected by succinic semialdehyde dehydrogenase deficiency ? 

Approximately 350 people with succinic semialdehyde dehydrogenase deficiency have been reported worldwide.
What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ? 

Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals.  A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.
Is succinic semialdehyde dehydrogenase deficiency inherited ? 

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the treatments for succinic semialdehyde dehydrogenase deficiency ? 

These resources address the diagnosis or management of succinic semialdehyde dehydrogenase deficiency:  - Gene Review: Gene Review: Succinic Semialdehyde Dehydrogenase Deficiency  - Genetic Testing Registry: Succinate-semialdehyde dehydrogenase deficiency  - MedlinePlus Encyclopedia: Hyperactivity   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) familial erythrocytosis ? 

Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.
How many people are affected by familial erythrocytosis ? 

Familial erythrocytosis is a rare condition; its prevalence is unknown.
What are the genetic changes related to familial erythrocytosis ? 

Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene. Researchers define four types of familial erythrocytosis, ECYT1 through ECYT4, based on which of these genes is altered.  The EPOR gene provides instructions for making a protein known as the erythropoietin receptor, which is found on the surface of certain blood-forming cells in the bone marrow. Erythropoietin is a hormone that directs the production of new red blood cells. Erythropoietin fits into the receptor like a key into a lock, triggering signaling pathways that lead to the formation of red blood cells. Mutations in the EPOR gene cause the erythropoietin receptor to be turned on for an abnormally long time after attaching to erythropoietin. The overactive receptor signals the production of red blood cells even when they are not needed, which results in an excess of these cells in the bloodstream. When familial erythrocytosis is caused by mutations in the EPOR gene, it is known as ECYT1.  The proteins produced from the VHL, EGLN1, and EPAS1 genes are also involved in red blood cell production; they each play a role in regulating erythropoietin. The protein produced from the EPAS1 gene is one component of a protein complex called hypoxia-inducible factor (HIF). When oxygen levels are lower than normal (hypoxia), HIF activates genes that help the body adapt, including the gene that provides instructions for making erythropoietin. Erythropoietin stimulates the production of more red blood cells to carry oxygen to organs and tissues. The proteins produced from the VHL and EGLN1 genes indirectly regulate erythropoietin by controlling the amount of available HIF. Mutations in any of these three genes can disrupt the regulation of red blood cell formation, leading to an overproduction of these cells. When familial erythrocytosis results from VHL gene mutations it is known as ECYT2; when the condition is caused by EGLN1 gene mutations it is called ECYT3; and when the condition results from EPAS1 gene mutations it is known as ECYT4.  Researchers have also described non-familial (acquired) forms of erythrocytosis. Causes of acquired erythrocytosis include long-term exposure to high altitude, chronic lung or heart disease, episodes in which breathing slows or stops for short periods during sleep (sleep apnea), and certain types of tumors. Another form of acquired erythrocytosis, called polycythemia vera, results from somatic (non-inherited) mutations in other genes involved in red blood cell production. In some cases, the cause of erythrocytosis is unknown.
Is familial erythrocytosis inherited ? 

Familial erythrocytosis can have different inheritance patterns depending on the gene involved.  When the condition is caused by mutations in the EPOR, EGLN1, or EPAS1 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals inherit the altered gene from one affected parent.  When familial erythrocytosis is caused by mutations in the VHL gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the treatments for familial erythrocytosis ? 

These resources address the diagnosis or management of familial erythrocytosis:  - Genetic Testing Registry: Erythrocytosis, familial, 2  - Genetic Testing Registry: Erythrocytosis, familial, 3  - Genetic Testing Registry: Erythrocytosis, familial, 4  - Genetic Testing Registry: Familial erythrocytosis, 1  - MedlinePlus Encyclopedia: Erythropoietin Test   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) autosomal dominant congenital stationary night blindness ? 

Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder.  The night blindness associated with this condition is congenital, which means it is present from birth. This vision impairment tends to remain stable (stationary); it does not worsen over time.
How many people are affected by autosomal dominant congenital stationary night blindness ? 

Autosomal dominant congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.
What are the genetic changes related to autosomal dominant congenital stationary night blindness ? 

Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit visual signals from the eye to the brain when light is dim.  The RHO gene provides instructions for making a protein called rhodopsin, which is turned on (activated) by light entering the eye. Rhodopsin then attaches (binds) to and activates the protein produced from the GNAT1 gene, alpha ()-transducin. The -transducin protein then triggers the activation of a protein called cGMP-PDE, which is made up of multiple parts (subunits) including a subunit produced from the PDE6B gene. Activated cGMP-PDE triggers a series of chemical reactions that create electrical signals. These signals are transmitted from rod cells to the brain, where they are interpreted as vision.  Mutations in the RHO, GNAT1, or PDE6B gene disrupt the normal signaling that occurs within rod cells. As a result, the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light.
Is autosomal dominant congenital stationary night blindness inherited ? 

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
What are the treatments for autosomal dominant congenital stationary night blindness ? 

These resources address the diagnosis or management of autosomal dominant congenital stationary night blindness:  - Genetic Testing Registry: Congenital stationary night blindness   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) Romano-Ward syndrome ? 

Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to fainting (syncope) or cardiac arrest and sudden death.
How many people are affected by Romano-Ward syndrome ? 

Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed.
What are the genetic changes related to Romano-Ward syndrome ? 

Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes alter the structure or function of these channels, which changes the flow of ions between cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.  Unlike most genes related to Romano-Ward syndrome, the ANK2 gene does not provide instructions for making an ion channel. The ANK2 protein, ankyrin-2, ensures that certain other proteins (particularly ion channels) are inserted into the cell membrane appropriately. A mutation in the ANK2 gene likely alters the flow of ions between cells in the heart, which disrupts the heart's normal rhythm. ANK2 mutations can cause a variety of heart problems, including the irregular heartbeat often found in Romano-Ward syndrome. It is unclear whether mutations in the ANK2 gene cause Romano-Ward syndrome or lead to another heart condition with some of the same signs and symptoms.
Is Romano-Ward syndrome inherited ? 

This condition is typically 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. A small percentage of cases result from new mutations in one of the genes described above. These cases occur in people with no history of Romano-Ward syndrome in their family.
What are the treatments for Romano-Ward syndrome ? 

These resources address the diagnosis or management of Romano-Ward syndrome:  - Gene Review: Gene Review: Long QT Syndrome  - Genetic Testing Registry: Long QT syndrome 1  - Genetic Testing Registry: Romano-Ward syndrome  - MedlinePlus Encyclopedia: Arrhythmias   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) Timothy syndrome ? 

Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system.  Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born with structural heart defects that affect the heart's ability to pump blood effectively. As a result of these serious heart problems, many people with Timothy syndrome live only into childhood. The most common cause of death is a form of arrhythmia called ventricular tachyarrhythmia, in which the lower chambers of the heart (the ventricles) beat abnormally fast and lead to cardiac arrest.  Timothy syndrome is also characterized by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, frequent infections, episodes of low blood sugar (hypoglycemia), and an abnormally low body temperature (hypothermia).  Researchers have found that many children with Timothy syndrome have the characteristic features of autism or similar conditions known as autistic spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Other nervous system abnormalities, including intellectual disability and seizures, can also occur in children with Timothy syndrome.  Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.
How many people are affected by Timothy syndrome ? 

Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals.
What are the genetic changes related to Timothy syndrome ? 

Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes. CaV1.2 calcium channels are particularly important for the normal function of heart and brain cells. In cardiac muscle, these channels play a critical role in maintaining the heart's normal rhythm. Their role in the brain and in other tissues is less clear.  Mutations in the CACNA1C gene change the structure of CaV1.2 channels. The altered channels stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause arrhythmia. Researchers are working to determine how an increase in calcium ion transport in other tissues, including cells in the brain, underlies the other features of Timothy syndrome.
Is Timothy syndrome inherited ? 

This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, people with Timothy syndrome inherit the altered gene from an unaffected parent who is mosaic for a CACNA1C mutation. Mosaicism means that the parent has the mutation in some cells (including egg or sperm cells), but not in others.
What are the treatments for Timothy syndrome ? 

These resources address the diagnosis or management of Timothy syndrome:  - Gene Review: Gene Review: Timothy Syndrome  - Genetic Testing Registry: Timothy syndrome  - MedlinePlus Encyclopedia: Arrhythmias  - MedlinePlus Encyclopedia: Congenital Heart Disease  - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes   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