Druvith/medqa huggingface dataset:
How many people are affected by X-linked thrombocytopenia ? 

The estimated incidence of X-linked thrombocytopenia is between 1 and 10 per million males worldwide; this condition is rarer among females.
What are the genetic changes related to X-linked thrombocytopenia ? 

Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse).  WAS gene mutations that cause X-linked thrombocytopenia typically lead to the production of an altered protein. The altered WASP has reduced function and cannot efficiently relay signals from the cell membrane to the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. In some cases, white blood cells are affected. When WASP function is impaired in white blood cells, they are less able to respond to foreign invaders and immune problems such as infections, eczema, and autoimmune disorders can occur.
Is X-linked thrombocytopenia inherited ? 

This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
What are the treatments for X-linked thrombocytopenia ? 

These resources address the diagnosis or management of X-linked thrombocytopenia:  - Gene Review: Gene Review: WAS-Related Disorders  - Genetic Testing Registry: Thrombocytopenia, X-linked  - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated?   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) hereditary cerebral amyloid angiopathy ? 

Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.  There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.  The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).  People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.  The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.  Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).  Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness.
How many people are affected by hereditary cerebral amyloid angiopathy ? 

The prevalence of hereditary cerebral amyloid angiopathy is unknown. The Dutch type is the most common, with over 200 affected individuals reported in the scientific literature.
What are the genetic changes related to hereditary cerebral amyloid angiopathy ? 

Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in the ITM2B gene.  The APP gene provides instructions for making a protein called amyloid precursor protein. This protein is found in many tissues and organs, including the brain and spinal cord (central nervous system). The precise function of this protein is unknown, but researchers speculate that it may attach (bind) to other proteins on the surface of cells or help cells attach to one another. In the brain, the amyloid precursor protein plays a role in the development and maintenance of nerve cells (neurons).  The CST3 gene provides instructions for making a protein called cystatin C. This protein inhibits the activity of enzymes called cathepsins that cut apart other proteins in order to break them down. Cystatin C is found in biological fluids, such as blood. Its levels are especially high in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).  The ITM2B gene provides instructions for producing a protein that is found in all tissues. The function of the ITM2B protein is unclear. It is thought to play a role in triggering the self-destruction of cells (apoptosis) and keeping cells from growing and dividing too fast or in an uncontrolled way. Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein.  Mutations in the APP, CST3, or ITM2B gene lead to the production of proteins that are less stable than normal and that tend to cluster together (aggregate). These aggregated proteins form protein clumps called amyloid deposits that accumulate in certain areas of the brain and in its blood vessels. The amyloid deposits, known as plaques, damage brain cells, eventually causing cell death and impairing various parts of the brain. Brain cell loss in people with hereditary cerebral amyloid angiopathy can lead to seizures, movement abnormalities, and other neurological problems. In blood vessels, amyloid plaques replace the muscle fibers and elastic fibers that give the blood vessels flexibility, causing them to become weak and prone to breakage. A break in a blood vessel in the brain causes bleeding in the brain (hemorrhagic stroke), which can lead to brain damage and dementia.
Is hereditary cerebral amyloid angiopathy inherited ? 

Hereditary cerebral amyloid angiopathy caused by mutations in the APP, CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  There is also a non-hereditary form of cerebral amyloid angiopathy that occurs in people with no history of the disorder in their family. The cause of this form of the condition is unknown. These cases are described as sporadic and are not inherited.
What are the treatments for hereditary cerebral amyloid angiopathy ? 

These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy:  - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related  - Genetic Testing Registry: Dementia familial British  - Genetic Testing Registry: Dementia, familial Danish  - Genetic Testing Registry: Hereditary cerebral amyloid angiopathy, Icelandic type  - Johns Hopkins Medicine: Intracerebral Hemorrhage  - MedlinePlus Encyclopedia: Cerebral Amyloid Angiopathy   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) glycogen storage disease type III ? 

Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.  GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.  Beginning in infancy, individuals with any type of GSDIII may have low blood sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver.  Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems.
How many people are affected by glycogen storage disease type III ? 

The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected.  GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types IIIc and IIId are very rare, and their signs and symptoms are poorly defined. Only a small number of affected individuals have been suspected to have GSD types IIIc and IIId.
What are the genetic changes related to glycogen storage disease type III ? 

Mutations in the AGL gene cause GSDIII. The AGL gene provides instructions for making the glycogen debranching enzyme. This enzyme is involved in the breakdown of glycogen, which is a major source of stored energy in the body. Between meals the body breaks down stores of energy, such as glycogen, to use for fuel.  Most AGL gene mutations lead to the production of a nonfunctional glycogen debranching enzyme. These mutations typically cause GSD types IIIa and IIIb. The mutations that cause GSD types IIIc and IIId are thought to lead to the production of an enzyme with reduced function. All AGL gene mutations lead to storage of abnormal, partially broken down glycogen molecules within cells. A buildup of abnormal glycogen damages organs and tissues throughout the body, particularly the liver and muscles, leading to the signs and symptoms of GSDIII.
Is glycogen storage disease type III 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 glycogen storage disease type III ? 

These resources address the diagnosis or management of glycogen storage disease type III:  - Gene Review: Gene Review: Glycogen Storage Disease Type III  - Genetic Testing Registry: Glycogen storage disease type III   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) van der Woude syndrome ? 

Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.  People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.
How many people are affected by van der Woude syndrome ? 

Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases.
What are the genetic changes related to van der Woude syndrome ? 

Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. 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.  The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.  Mutations in the IRF6 gene that cause van der Woude syndrome prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome.
Is van der Woude syndrome 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. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder.
What are the treatments for van der Woude syndrome ? 

These resources address the diagnosis or management of van der Woude syndrome:  - Gene Review: Gene Review: IRF6-Related Disorders  - Genetic Testing Registry: Van der Woude 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
What is (are) benign familial neonatal seizures ? 

Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.  A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading.  Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.
How many people are affected by benign familial neonatal seizures ? 

Benign familial neonatal seizures occurs in approximately 1 in 100,000 newborns.
What are the genetic changes related to benign familial neonatal seizures ? 

Mutations in two genes, KCNQ2 and KCNQ3, have been found to cause BFNS. Mutations in the KCNQ2 gene are a much more common cause of the condition than mutations in the KCNQ3 gene.  The KCNQ2 and KCNQ3 genes provide instructions for making proteins that interact to form potassium channels. Potassium channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.  Channels made with the KCNQ2 and KCNQ3 proteins are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. These channels transmit a particular type of electrical signal called the M-current, which prevents the neuron from continuing to send signals to other neurons. The M-current ensures that the neuron is not constantly active, or excitable.  Mutations in the KCNQ2 or KCNQ3 gene result in a reduced or altered M-current, which leads to excessive excitability of neurons. Seizures develop when neurons in the brain are abnormally excited. It is unclear why the seizures stop around the age of 4 months. It has been suggested that potassium channels formed from the KCNQ2 and KCNQ3 proteins play a major role in preventing excessive excitability of neurons in newborns, but other mechanisms develop during infancy.  About 70 percent of people with BFNS have a mutation in either the KCNQ2 or the KCNQ3 gene. Researchers are working to identify other gene mutations involved in this condition.
Is benign familial neonatal seizures 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. In most cases, an affected person inherits the mutation from one affected parent. A few cases result from new mutations in the KCNQ2 gene. These cases occur in people with no history of benign familial neonatal seizures in their family.
What are the treatments for benign familial neonatal seizures ? 

These resources address the diagnosis or management of BFNS:  - Boston Children's Hospital: My Child Has...Seizures and Epilepsy  - Epilepsy Action: Benign Neonatal Convulsions  - Gene Review: Gene Review: KCNQ2-Related Disorders  - Gene Review: Gene Review: KCNQ3-Related Disorders  - Genetic Testing Registry: Benign familial neonatal seizures  - Genetic Testing Registry: Benign familial neonatal seizures 1  - Genetic Testing Registry: Benign familial neonatal seizures 2  - MedlinePlus Encyclopedia: EEG   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) Emery-Dreifuss muscular dystrophy ? 

Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.  Almost all people with Emery-Dreifuss muscular dystrophy have heart problems by adulthood. In many cases, these heart problems stem from abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to an unusually slow heartbeat (bradycardia), fainting (syncope), and an increased risk of stroke and sudden death.  The types of Emery-Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. Although the three types have similar signs and symptoms, researchers believe that the features of autosomal dominant Emery-Dreifuss muscular dystrophy are more variable than the other types. A small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.
How many people are affected by Emery-Dreifuss muscular dystrophy ? 

X-linked Emery-Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people. The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown.