sarnsrun/medquadmini huggingface dataset:
Question:
What are the genetic changes related to autosomal recessive axonal neuropathy with neuromyotonia ?

Answer:
Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability to carry out a chemical reaction called hydrolysis that breaks down certain molecules; however, it is not known what effects the reaction has in the body.  HINT1 gene mutations that cause autosomal recessive axonal neuropathy with neuromyotonia lead to production of a HINT1 protein with little or no function. Sometimes the abnormal protein is broken down prematurely. Researchers are working to determine how loss of functional HINT1 protein affects the peripheral nerves and leads to the signs and symptoms of this condition.
Question:
Is autosomal recessive axonal neuropathy with neuromyotonia 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.
Question:
What are the treatments for autosomal recessive axonal neuropathy with neuromyotonia ?

Answer:
These resources address the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia:  - Genetic Testing Registry: Gamstorp-Wohlfart 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
Question:
What is (are) protein C deficiency ?

Answer:
Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.  Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting.  In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.
Question:
How many people are affected by protein C deficiency ?

Answer:
Mild protein C deficiency affects approximately 1 in 500 individuals. Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns.
Question:
What are the genetic changes related to protein C deficiency ?

Answer:
Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting.  Most of the mutations that cause protein C deficiency change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein C to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the number of PROC gene mutations an individual has.
Question:
Is protein C deficiency inherited ?

Answer:
Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency.
Question:
What are the treatments for protein C deficiency ?

Answer:
These resources address the diagnosis or management of protein C deficiency:  - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant  - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency  - MedlinePlus Encyclopedia: Necrosis  - MedlinePlus Encyclopedia: Protein C  - MedlinePlus Encyclopedia: Purpura   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
Question:
What is (are) Bannayan-Riley-Ruvalcaba syndrome ?

Answer:
Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.  At least half of affected infants have macrocephaly, and many also have a high birth weight and a large body size (macrosomia). Growth usually slows during childhood, so affected adults are of normal height and body size. About half of all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability or delayed development, particularly the development of speech and of motor skills such as sitting, crawling, and walking. These delays may improve with age.  About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop hamartomas in their intestines, known as hamartomatous polyps. Other noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome include fatty tumors called lipomas and angiolipomas that develop under the skin. Some affected individuals also develop hemangiomas, which are red or purplish growths that consist of tangles of abnormal blood vessels. People with Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing certain cancers, although researchers are still working to determine the cancer risks associated with this condition.  Other signs and symptoms that have been reported in people with Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other muscle abnormalities, thyroid problems, and seizures. Skeletal abnormalities have also been described with this condition, including an unusually large range of joint movement (hyperextensibility), abnormal side-to-side curvature of the spine (scoliosis), and a sunken chest (pectus excavatum).  The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas and other noncancerous growths; they also have an increased risk of developing certain types of cancer. Both conditions can be caused by mutations in the PTEN gene. Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.
Question:
How many people are affected by Bannayan-Riley-Ruvalcaba syndrome ?

Answer:
The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle.
Question:
What are the genetic changes related to Bannayan-Riley-Ruvalcaba syndrome ?

Answer:
About 60 percent of all cases of Bannayan-Riley-Ruvalcaba syndrome result from mutations in the PTEN gene. Another 10 percent of cases are caused by a large deletion of genetic material that includes part or all of this gene. The protein produced from the PTEN gene is a tumor suppressor, which means that it normally prevents cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. If this protein is missing or defective, cell proliferation is not regulated effectively. Uncontrolled cell division can lead to the formation of hamartomas and other cancerous and noncancerous tumors. The protein produced from the PTEN gene likely has other important functions within cells; however, it is unclear how mutations in this gene can cause the other features of Bannayan-Riley-Ruvalcaba syndrome, such as macrocephaly, developmental delay, and muscle and skeletal abnormalities.  When Bannayan-Riley-Ruvalcaba syndrome is not caused by mutations or deletions of the PTEN gene, the cause of the condition is unknown.
Question:
Is Bannayan-Riley-Ruvalcaba 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.
Question:
What are the treatments for Bannayan-Riley-Ruvalcaba syndrome ?

Answer:
These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome:  - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS)  - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome  - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Families   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
Question:
What is (are) MECP2-related severe neonatal encephalopathy ?

Answer:
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.  MECP2-related severe neonatal encephalopathy is the most severe condition in a spectrum of disorders with the same genetic cause. The mildest is PPM-X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related severe neonatal encephalopathy.
Question:
How many people are affected by MECP2-related severe neonatal encephalopathy ?

Answer:
MECP2-related severe neonatal encephalopathy is likely a rare condition. Twenty to 30 affected males have been reported in the scientific literature.
Question:
What are the genetic changes related to MECP2-related severe neonatal encephalopathy ?

Answer:
Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them on or off as they are needed. The MeCP2 protein likely plays a role in maintaining the normal function of nerve cells, which ensures that connections (synapses) between these cells form properly. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of MECP2-related severe neonatal encephalopathy.
Question:
Is MECP2-related severe neonatal encephalopathy inherited ?

Answer:
MECP2-related severe neonatal encephalopathy has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two X chromosomes, a mutation in one of the two copies of the gene in each cell is usually sufficient to cause the condition. However, females with a mutation in the MECP2 gene do not develop MECP2-related severe neonatal encephalopathy. Instead, they typically develop Rett syndrome, which has signs and symptoms that include intellectual disability, seizures, and movement problems.  In some cases, males with MECP2-related severe neonatal encephalopathy inherit the mutation from a mother with mild neurological problems or from a mother with no features related to the mutation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question:
What are the treatments for MECP2-related severe neonatal encephalopathy ?

Answer:
These resources address the diagnosis or management of MECP2-related severe neonatal encephalopathy:  - Cincinnati Children's Hospital: MECP2-Related Disorders  - Gene Review: Gene Review: MECP2-Related Disorders  - Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly  - Johns Hopkins Children's Center: Failure to Thrive   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
Question:
What is (are) protein S deficiency ?

Answer:
Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.  Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Other factors can raise the risk of abnormal blood clots in people with mild protein S deficiency. These factors include increasing age, surgery, immobility, or pregnancy. The combination of protein S deficiency and other inherited disorders of blood clotting can also influence risk. Many people with mild protein S deficiency never develop an abnormal blood clot, however.  In severe cases of protein S deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots within small blood vessels throughout the body. These blood clots disrupt normal blood flow and can lead to death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body and is often noticeable as large, purple skin lesions. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.
Question:
How many people are affected by protein S deficiency ?

Answer:
Mild protein S deficiency is estimated to occur in approximately 1 in 500 individuals. Severe protein S deficiency is rare; however, its exact prevalence is unknown.
Question:
What are the genetic changes related to protein S deficiency ?

Answer:
Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots.  Most mutations that cause protein S deficiency change single protein building blocks (amino acids) in protein S, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein S to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein S deficiency can be divided into types I, II and III based on how mutations in the PROS1 gene affect protein S.
Question:
Is protein S deficiency inherited ?

Answer:
Protein S deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROS1 gene in each cell is sufficient to cause mild protein S deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein S deficiency.
Question:
What are the treatments for protein S deficiency ?

Answer:
These resources address the diagnosis or management of protein S deficiency:  - Genetic Testing Registry: Protein S deficiency  - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency  - MedlinePlus Encyclopedia: Necrosis  - MedlinePlus Encyclopedia: Protein S  - MedlinePlus Encyclopedia: Purpura   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
Question:
What is (are) polycythemia vera ?

Answer:
Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.  Polycythemia vera typically develops in adulthood, around age 60, although in rare cases it occurs in children and young adults. This condition may not cause any symptoms in its early stages. Some people with polycythemia vera experience headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy skin. Affected individuals frequently have reddened skin because of the extra red blood cells. Other complications of polycythemia vera include an enlarged spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a buildup of uric acid in the joints), heart disease, and cancer of blood-forming cells (leukemia).
Question:
How many people are affected by polycythemia vera ?

Answer:
The prevalence of polycythemia vera varies worldwide. The condition affects an estimated 44 to 57 per 100,000 individuals in the United States. For unknown reasons, men develop polycythemia vera more frequently than women.
Question:
What are the genetic changes related to polycythemia vera ?

Answer:
Mutations in the JAK2 and TET2 genes are associated with polycythemia vera. Although it remains unclear exactly what initiates polycythemia vera, researchers believe that it begins when mutations occur in the DNA of a hematopoietic stem cell. These stem cells are located in the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. JAK2 gene mutations seem to be particularly important for the development of polycythemia vera, as nearly all affected individuals have a mutation in this gene. The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells.  JAK2 gene mutations result in the production of a JAK2 protein that is constantly turned on (constitutively activated), which increases production of blood cells and prolongs their survival. With so many extra cells in the bloodstream, abnormal blood clots are more likely to form. Thicker blood also flows more slowly throughout the body, which prevents organs from receiving enough oxygen. Many of the signs and symptoms of polycythemia vera are related to a shortage of oxygen in body tissues.  The function of the TET2 gene is unknown. Although mutations in the TET2 gene have been found in approximately 16 percent of people with polycythemia vera, it is unclear what role these mutations play in the development of the condition.
Question:
Is polycythemia vera inherited ?

Answer:
Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells.  In rare instances, polycythemia vera has been found to run in families. In some of these families, the risk of developing polycythemia vera appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to increase the risk of developing polycythemia vera, although the cause of this condition in familial cases is unknown. In these families, people seem to inherit an increased risk of polycythemia vera, not the disease itself.
Question:
What are the treatments for polycythemia vera ?

Answer:
These resources address the diagnosis or management of polycythemia vera:  - Genetic Testing Registry: Polycythemia vera  - MPN Research Foundation: Diagnosis  - MedlinePlus Encyclopedia: Polycythemia Vera   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