sarnsrun/medquad huggingface dataset:
Topic: Aarskog-Scott syndrome
Question: What is (are) Aarskog-Scott syndrome ?
Answer: Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.  People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm. Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate).  Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).  The intellectual development of people with Aarskog-Scott syndrome varies widely among affected individuals. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.
Source: GHR
Topic: Aarskog-Scott syndrome
Question: How many people are affected by Aarskog-Scott syndrome ?
Answer: Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed.
Source: GHR
Topic: Aarskog-Scott syndrome
Question: What are the genetic changes related to Aarskog-Scott syndrome ?
Answer: Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development.  Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, which causes the wide variety of developmental abnormalities seen in Aarskog-Scott syndrome.  Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.
Source: GHR
Topic: Aarskog-Scott syndrome
Question: Is Aarskog-Scott syndrome inherited ?
Answer: Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Source: GHR
Topic: Aarskog-Scott syndrome
Question: What are the treatments for Aarskog-Scott syndrome ?
Answer: These resources address the diagnosis or management of Aarskog-Scott syndrome:  - Genetic Testing Registry: Aarskog syndrome  - MedlinePlus Encyclopedia: Aarskog 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: Li-Fraumeni syndrome
Question: What is (are) Li-Fraumeni syndrome ?
Answer: Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.  The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.  A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.
Source: GHR
Topic: Li-Fraumeni syndrome
Question: How many people are affected by Li-Fraumeni syndrome ?
Answer: The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.
Source: GHR
Topic: Li-Fraumeni syndrome
Question: What are the genetic changes related to Li-Fraumeni syndrome ?
Answer: The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome.  More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations.  A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).
Source: GHR
Topic: Li-Fraumeni syndrome
Question: Is Li-Fraumeni syndrome inherited ?
Answer: Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition.
Source: GHR
Topic: Li-Fraumeni syndrome
Question: What are the treatments for Li-Fraumeni syndrome ?
Answer: These resources address the diagnosis or management of Li-Fraumeni syndrome:  - Gene Review: Gene Review: Li-Fraumeni Syndrome  - Genetic Testing Registry: Li-Fraumeni syndrome  - Genetic Testing Registry: Li-Fraumeni syndrome 1  - Genetic Testing Registry: Li-Fraumeni syndrome 2  - MedlinePlus Encyclopedia: Cancer  - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: phosphoglycerate kinase deficiency
Question: What is (are) phosphoglycerate kinase deficiency ?
Answer: Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.  The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.  Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.
Source: GHR
Topic: phosphoglycerate kinase deficiency
Question: How many people are affected by phosphoglycerate kinase deficiency ?
Answer: Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature.
Source: GHR
Topic: phosphoglycerate kinase deficiency
Question: What are the genetic changes related to phosphoglycerate kinase deficiency ?
Answer: Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.  Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.
Source: GHR
Topic: phosphoglycerate kinase deficiency
Question: Is phosphoglycerate kinase deficiency inherited ?
Answer: This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Females with one altered PGK1 gene, however, may have some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Source: GHR
Topic: phosphoglycerate kinase deficiency
Question: What are the treatments for phosphoglycerate kinase deficiency ?
Answer: These resources address the diagnosis or management of phosphoglycerate kinase deficiency:  - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency  - Genetic Testing Registry: Deficiency of phosphoglycerate kinase  - Genetic Testing Registry: Phosphoglycerate kinase 1 deficiency   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: X-linked thrombocytopenia
Question: What is (are) X-linked thrombocytopenia ?
Answer: X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening.  Some people with X-linked thrombocytopenia also have patches of red, irritated skin (eczema) or an increased susceptibility to infections. In severe cases, additional features can develop, such as cancer or autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear, however, if people with these features have X-linked thrombocytopenia or a more severe disorder with similar signs and symptoms called Wiskott-Aldrich syndrome.  Some people have a mild form of the disorder called intermittent thrombocytopenia. These individuals have normal platelet production at times with episodes of thrombocytopenia.
Source: GHR
Topic: X-linked thrombocytopenia
Question: How many people are affected by X-linked thrombocytopenia ?
Answer: The estimated incidence of X-linked thrombocytopenia is between 1 and 10 per million males worldwide; this condition is rarer among females.
Source: GHR
Topic: X-linked thrombocytopenia
Question: What are the genetic changes related to X-linked thrombocytopenia ?
Answer: 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.
Source: GHR
Topic: X-linked thrombocytopenia
Question: Is X-linked thrombocytopenia inherited ?
Answer: 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.
Source: GHR
Topic: X-linked thrombocytopenia
Question: What are the treatments for X-linked thrombocytopenia ?
Answer: 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
Source: GHR
Topic: Legg-Calv-Perthes disease
Question: What is (are) Legg-Calv-Perthes disease ?
Answer: Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.  In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calv-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age.
Source: GHR
Topic: Legg-Calv-Perthes disease
Question: How many people are affected by Legg-Calv-Perthes disease ?
Answer: The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15.
Source: GHR
Topic: Legg-Calv-Perthes disease
Question: What are the genetic changes related to Legg-Calv-Perthes disease ?
Answer: Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.  COL2A1 gene mutations involved in Legg-Calv-Perthes disease lead to production of an altered protein; collagen that contains this protein may be less stable than normal. Researchers speculate that the breakdown of bone characteristic of Legg-Calv-Perthes disease is caused by impaired blood flow to the femoral head, which leads to death of the bone tissue (osteonecrosis); however it is unclear how abnormal type II collagen is involved in this process or why the hips are specifically affected.
Source: GHR
Topic: Legg-Calv-Perthes disease
Question: Is Legg-Calv-Perthes disease inherited ?
Answer: When associated with COL2A1 gene mutations, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder.  Most COL2A1-associated cases result from new mutations in the gene and occur in people with no history of the disorder in their family. These cases are referred to as sporadic. In other cases, the condition is passed through families. In these cases, referred to as familial, an affected person inherits the mutation from one affected parent.
Source: GHR
Topic: Legg-Calv-Perthes disease
Question: What are the treatments for Legg-Calv-Perthes disease ?
Answer: These resources address the diagnosis or management of Legg-Calv-Perthes disease:  - National Osteonecrosis Foundation  - Seattle Children's Hospital   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: homocystinuria
Question: What is (are) homocystinuria ?
Answer: Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.  Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic).  The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood.
Source: GHR
Topic: homocystinuria
Question: How many people are affected by homocystinuria ?
Answer: The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a small number of cases reported in the scientific literature.
Source: GHR
Topic: homocystinuria
Question: What are the genetic changes related to homocystinuria ?
Answer: Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria.  Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine. As a result of this pathway, other amino acids, including methionine, are produced. Mutations in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, this amino acid and toxic byproducts substances build up in the blood. Some of the excess homocysteine is excreted in urine.  Rarely, homocystinuria can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Mutations in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body. Researchers have not determined how excess homocysteine and related compounds lead to the signs and symptoms of homocystinuria.
Source: GHR
Topic: homocystinuria
Question: Is homocystinuria inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.  Although people who carry one mutated copy and one normal copy of the CBS gene do not have homocystinuria, they are more likely than people without a CBS mutation to have shortages (deficiencies) of vitamin B12 and folic acid.
Source: GHR