sarnsrun/medquad huggingface dataset:
Topic: hereditary cerebral amyloid angiopathy
Question: What are the genetic changes related to hereditary cerebral amyloid angiopathy ?
Answer: 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.
Source: GHR
Topic: hereditary cerebral amyloid angiopathy
Question: Is hereditary cerebral amyloid angiopathy inherited ?
Answer: 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.
Source: GHR
Topic: hereditary cerebral amyloid angiopathy
Question: What are the treatments for hereditary cerebral amyloid angiopathy ?
Answer: 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
Source: GHR
Topic: Renpenning syndrome
Question: What is (are) Renpenning syndrome ?
Answer: Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder.  About 20 percent of individuals with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), heart abnormalities, or malformations of the anus.  Certain combinations of the features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan syndrome. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.
Source: GHR
Topic: Renpenning syndrome
Question: How many people are affected by Renpenning syndrome ?
Answer: Renpenning syndrome is a rare disorder; its prevalence is unknown. More than 60 affected individuals in at least 15 families have been identified.
Source: GHR
Topic: Renpenning syndrome
Question: What are the genetic changes related to Renpenning syndrome ?
Answer: Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins.  While the specific function of polyglutamine-binding protein 1 is not well understood, it is believed to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as the genetic blueprint for the production of proteins.  In nerve cells (neurons) such as those in the brain, polyglutamine-binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage of RNA within the cell. The RNA is held within the granules until the genetic information it carries is translated to produce proteins or until cellular signals or environmental factors trigger the RNA to be degraded. Through these mechanisms, polyglutamine-binding protein 1 is thought to help control the way genetic information is used (gene expression) in neurons. This control is important for normal brain development.  Most of the mutations in the PQBP1 gene that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.
Source: GHR
Topic: Renpenning syndrome
Question: Is Renpenning syndrome inherited ?
Answer: This condition 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 typically has to occur in both copies of the gene to cause the disorder. 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. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Source: GHR
Topic: Renpenning syndrome
Question: What are the treatments for Renpenning syndrome ?
Answer: These resources address the diagnosis or management of Renpenning syndrome:  - Genetic Testing Registry: Renpenning syndrome 1  - Greenwood Genetics Center: X-Linked Intellectual Disability  - Kennedy Krieger Institute: Center for Genetic Disorders of Cognition and Behavior   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: malignant migrating partial seizures of infancy
Question: What is (are) malignant migrating partial seizures of infancy ?
Answer: Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay.  The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.  Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent.  Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills.  Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.
Source: GHR
Topic: malignant migrating partial seizures of infancy
Question: How many people are affected by malignant migrating partial seizures of infancy ?
Answer: MMPSI is a rare condition. Although its prevalence is unknown, approximately 100 cases have been described in the medical literature.
Source: GHR
Topic: malignant migrating partial seizures of infancy
Question: What are the genetic changes related to malignant migrating partial seizures of infancy ?
Answer: The genetic cause of MMPSI is not fully known. Mutations in the KCNT1 gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other genes are also thought to be involved in the condition.  The KCNT1 gene provides instructions for making a protein that forms 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 KCNT1 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. This flow of ions is involved in generating currents to activate (excite) neurons and send signals in the brain.  KCNT1 gene mutations alter the KCNT1 protein. Electrical currents generated by potassium channels made with the altered KCNT1 protein are abnormally increased, which allows unregulated excitation of neurons in the brain. Seizures develop when neurons in the brain are abnormally excited. It is unclear why seizure activity can migrate in MMPSI. Repeated seizures in affected individuals contribute to the developmental delay that is characteristic of this condition.
Source: GHR
Topic: malignant migrating partial seizures of infancy
Question: Is malignant migrating partial seizures of infancy inherited ?
Answer: MMPSI is not inherited from a parent and does not run in families. This condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation).
Source: GHR
Topic: malignant migrating partial seizures of infancy
Question: What are the treatments for malignant migrating partial seizures of infancy ?
Answer: These resources address the diagnosis or management of malignant migrating partial seizures of infancy:  - Genetic Testing Registry: Early infantile epileptic encephalopathy 14  - 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
Source: GHR
Topic: prothrombin thrombophilia
Question: What is (are) prothrombin thrombophilia ?
Answer: Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs. Most people with prothrombin thrombophilia never develop abnormal blood clots, however.  Some research suggests that prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies.
Source: GHR
Topic: prothrombin thrombophilia
Question: How many people are affected by prothrombin thrombophilia ?
Answer: Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people in the white population in the United States and Europe has prothrombin thrombophilia. This condition is less common in other ethnic groups, occurring in less than one percent of African American, Native American, or Asian populations.
Source: GHR
Topic: prothrombin thrombophilia
Question: What are the genetic changes related to prothrombin thrombophilia ?
Answer: Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a series of chemical reactions in order to form a blood clot. The particular mutation that causes prothrombin thrombophilia results in an overactive F2 gene that causes too much prothrombin to be produced. An abundance of prothrombin leads to more thrombin, which promotes the formation of blood clots.  Other factors also increase the risk of blood clots in people with prothrombin thrombophilia. These factors include increasing age, obesity, trauma, surgery, smoking, the use of oral contraceptives (birth control pills) or hormone replacement therapy, and pregnancy. The combination of prothrombin thrombophilia and mutations in other genes involved in blood clotting can also influence risk.
Source: GHR
Topic: prothrombin thrombophilia
Question: Is prothrombin thrombophilia inherited ?
Answer: The risk of developing an abnormal clot in a blood vessel depends on whether a person inherits one or two copies of the F2 gene mutation that causes prothrombin thrombophilia. In the general population, the risk of developing an abnormal blood clot is about 1 in 1,000 people per year. Inheriting one copy of the F2 gene mutation increases that risk to 2 to 3 in 1,000. People who inherit two copies of the mutation, one from each parent, may have a risk as high as 20 in 1,000.
Source: GHR
Topic: prothrombin thrombophilia
Question: What are the treatments for prothrombin thrombophilia ?
Answer: These resources address the diagnosis or management of prothrombin thrombophilia:  - Gene Review: Gene Review: Prothrombin-Related Thrombophilia  - Genetic Testing Registry: Thrombophilia  - MedlinePlus Encyclopedia: Deep venous thrombosis  - MedlinePlus Encyclopedia: Pulmonary embolus   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: malonyl-CoA decarboxylase deficiency
Question: What is (are) malonyl-CoA decarboxylase deficiency ?
Answer: Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.
Source: GHR
Topic: malonyl-CoA decarboxylase deficiency
Question: How many people are affected by malonyl-CoA decarboxylase deficiency ?
Answer: This condition is very rare; fewer than 30 cases have been reported.
Source: GHR
Topic: malonyl-CoA decarboxylase deficiency
Question: What are the genetic changes related to malonyl-CoA decarboxylase deficiency ?
Answer: Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including the heart muscle, use fatty acids as a major source of energy.  Mutations in the MLYCD gene reduce or eliminate the function of malonyl-CoA decarboxylase. A shortage of this enzyme disrupts the normal balance of fatty acid formation and breakdown in the body. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder including low blood sugar and cardiomyopathy. Byproducts of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency.
Source: GHR
Topic: malonyl-CoA decarboxylase deficiency
Question: Is malonyl-CoA decarboxylase deficiency inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR
Topic: malonyl-CoA decarboxylase deficiency
Question: What are the treatments for malonyl-CoA decarboxylase deficiency ?
Answer: These resources address the diagnosis or management of malonyl-CoA decarboxylase deficiency:  - Baby's First Test  - Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase   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: gray platelet syndrome
Question: What is (are) gray platelet syndrome ?
Answer: Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals.  A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).
Source: GHR
Topic: gray platelet syndrome
Question: How many people are affected by gray platelet syndrome ?
Answer: Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide.
Source: GHR
Topic: gray platelet syndrome
Question: What are the genetic changes related to gray platelet syndrome ?
Answer: Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. Little is known about the protein produced from this gene. It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound healing. In response to an injury that causes bleeding, the proteins stored in alpha-granules help platelets stick to one another to form a plug that seals off damaged blood vessels and prevents further blood loss.  Mutations in the NBEAL2 gene disrupt the normal production of alpha-granules. Without alpha-granules, platelets are unusually large and fewer in number than usual (macrothrombocytopenia). The abnormal platelets also appear gray when viewed under a microscope, which gives this condition its name. A lack of alpha-granules impairs the normal activity of platelets during blood clotting, increasing the risk of abnormal bleeding. Myelofibrosis is thought to occur because the growth factors and other proteins that are normally packaged into alpha-granules leak out into the bone marrow. The proteins lead to fibrosis that affects the bone marrow's ability to make new blood cells.  Some people with gray platelet syndrome do not have an identified mutation in the NBEAL2 gene. In these individuals, the cause of the condition is unknown.
Source: GHR