sarnsrun/medquad huggingface dataset:
Topic: limb-girdle muscular dystrophy
Question: What are the treatments for limb-girdle muscular dystrophy ?
Answer: These resources address the diagnosis or management of limb-girdle muscular dystrophy:  - Cleveland Clinic  - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview  - Genetic Testing Registry: Limb-girdle muscular dystrophy  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1B  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1C  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1E  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1F  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1G  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1H  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2A  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2B  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2D  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2E  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2F  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2G  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2J  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2L  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5  - Johns Hopkins Medicine  - LGMD-Diagnosis.org   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: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Question: What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.  Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement.  Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp. Back pain, which develops in early to mid-adulthood, results from the breakdown (degeneration) of the discs that separate the bones of the spine (vertebrae) from one another.  The signs and symptoms of CARASIL worsen slowly with time. Over the course of several years, affected individuals become less able to control their emotions and communicate with others. They increasingly require help with personal care and other activities of daily living; after a few years, they become unable to care for themselves. Most affected individuals die within a decade after signs and symptoms first appear, although few people with the disease have survived for 20 to 30 years.
Source: GHR
Topic: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Question: How many people are affected by cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: CARASIL appears to be a rare condition. It has been identified in about 50 people, primarily in Japan and China.
Source: GHR
Topic: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Question: What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essential for many critical cell functions. It also plays an important role in the formation of new blood vessels (angiogenesis).  In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF- signaling. Researchers suspect that abnormally increased TGF- signaling alters the structure of small blood vessels, particularly in the brain. These blood vessel abnormalities (described as arteriopathy) greatly increase the risk of stroke and lead to the death of nerve cells (neurons) in many areas of the brain. Dysregulation of TGF- signaling may also underlie the hair loss and back pain seen in people with CARASIL, although the relationship between abnormal TGF- signaling and these features is less clear.
Source: GHR
Topic: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Question: Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy inherited ?
Answer: As its name suggests, this condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR
Topic: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Question: What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: These resources address the diagnosis or management of CARASIL:  - Gene Review: Gene Review: CARASIL  - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy   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: generalized arterial calcification of infancy
Question: What is (are) generalized arterial calcification of infancy ?
Answer: Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). This calcification often occurs along with thickening of the lining of the arterial walls (the intima). These changes lead to narrowing (stenosis) and stiffness of the arteries, which forces the heart to work harder to pump blood. As a result, heart failure may develop in affected individuals, with signs and symptoms including difficulty breathing, accumulation of fluid (edema) in the extremities, a bluish appearance of the skin or lips (cyanosis), severe high blood pressure (hypertension), and an enlarged heart (cardiomegaly).  People with GACI may also have calcification in other organs and tissues, particularly around the joints. In addition, they may have hearing loss or softening and weakening of the bones (rickets).  Some individuals with GACI also develop features similar to those of another disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the accumulation of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Features characteristic of PXE that also occur in GACI include yellowish bumps called papules on the underarms and other areas of skin that touch when a joint bends (flexor areas); and abnormalities called angioid streaks affecting tissue at the back of the eye, which can be detected during an eye examination.  As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. However, affected individuals who survive their first six months, known as the critical period, can live into adolescence or early adulthood.
Source: GHR
Topic: generalized arterial calcification of infancy
Question: How many people are affected by generalized arterial calcification of infancy ?
Answer: The prevalence of GACI has been estimated to be about 1 in 391,000. At least 200 affected individuals have been described in the medical literature.
Source: GHR
Topic: generalized arterial calcification of infancy
Question: What are the genetic changes related to generalized arterial calcification of infancy ?
Answer: In about two-thirds of cases, GACI is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps break down a molecule called adenosine triphosphate (ATP), specifically when it is found outside the cell (extracellular). Extracellular ATP is quickly broken down into other molecules called adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate is important in controlling calcification and other mineralization in the body. Mutations in the ENPP1 gene are thought to result in reduced availability of pyrophosphate, leading to excessive calcification in the body and causing the signs and symptoms of GACI.  GACI can also be caused by mutations in the ABCC6 gene. This gene provides instructions for making a protein called MRP6, also known as the ABCC6 protein. This protein is found primarily in the liver and kidneys, with small amounts in other tissues such as the skin, stomach, blood vessels, and eyes.  MRP6 is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Some studies suggest that the MRP6 protein stimulates the release of ATP from cells through an unknown mechanism, allowing it to be broken down into AMP and pyrophosphate and helping to control deposition of calcium and other minerals in the body as described above. Other studies suggest that a substance transported by MRP6 is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues.  Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to GACI. This shortage may impair the release of ATP from cells. As a result, little pyrophosphate is produced, and calcium accumulates in the blood vessels and other tissues affected by GACI. Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium characteristic of GACI.  Some people with GACI do not have mutations in the ENPP1 or ABCC6 gene. In these affected individuals, the cause of the disorder is unknown.
Source: GHR
Topic: generalized arterial calcification of infancy
Question: Is generalized arterial calcification of infancy 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: generalized arterial calcification of infancy
Question: What are the treatments for generalized arterial calcification of infancy ?
Answer: These resources address the diagnosis or management of GACI:  - Gene Review: Gene Review: Generalized Arterial Calcification of Infancy  - Genetic Testing Registry: Generalized arterial calcification of infancy 2   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: otopalatodigital syndrome type 1
Question: What is (are) otopalatodigital syndrome type 1 ?
Answer: Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a small, flat nose. Affected individuals also have hearing loss and chest deformities. They have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; and unusually long second toes.  Affected individuals may be born with an opening in the roof of the mouth (a cleft palate). They may have mildly bowed limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family. Males with this disorder often have more severe signs and symptoms than do females, who may show only the characteristic facial features.
Source: GHR
Topic: otopalatodigital syndrome type 1
Question: How many people are affected by otopalatodigital syndrome type 1 ?
Answer: Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown.
Source: GHR
Topic: otopalatodigital syndrome type 1
Question: What are the genetic changes related to otopalatodigital syndrome type 1 ?
Answer: Mutations in the FLNA gene cause otopalatodigital syndrome type 1.  The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell.  A small number of mutations in the FLNA gene have been identified in people with otopalatodigital syndrome type 1. The mutations all result in changes to the filamin A protein in the region that binds to actin. The mutations responsible for otopalatodigital syndrome type 1 are described as "gain-of-function" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of otopalatodigital syndrome type 1.
Source: GHR
Topic: otopalatodigital syndrome type 1
Question: Is otopalatodigital syndrome type 1 inherited ?
Answer: This condition is inherited in an X-linked dominant 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 is sufficient to 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, 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: otopalatodigital syndrome type 1
Question: What are the treatments for otopalatodigital syndrome type 1 ?
Answer: These resources address the diagnosis or management of otopalatodigital syndrome type 1:  - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders  - Genetic Testing Registry: Oto-palato-digital syndrome, type I   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: oculodentodigital dysplasia
Question: What is (are) oculodentodigital dysplasia ?
Answer: Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers.  Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused.  Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.
Source: GHR
Topic: oculodentodigital dysplasia
Question: How many people are affected by oculodentodigital dysplasia ?
Answer: The exact incidence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.
Source: GHR
Topic: oculodentodigital dysplasia
Question: What are the genetic changes related to oculodentodigital dysplasia ?
Answer: Mutations in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called connexin43. This protein forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. Gap junctions formed by connexin43 proteins are found in many tissues throughout the body.  GJA1 gene mutations result in abnormal connexin43 proteins. Channels formed with abnormal proteins are often permanently closed. Some mutations prevent connexin43 proteins from traveling to the cell surface where they are needed to form channels between cells. Impaired functioning of these channels disrupts cell-to-cell communication, which likely interferes with normal cell growth and cell specialization, processes that determine the shape and function of many different parts of the body. These developmental problems cause the signs and symptoms of oculodentodigital dysplasia.
Source: GHR
Topic: oculodentodigital dysplasia
Question: Is oculodentodigital dysplasia inherited ?
Answer: Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  Less commonly, oculodentodigital dysplasia can be 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. Fewer than ten cases of autosomal recessive oculodentodigital dysplasia have been reported.
Source: GHR
Topic: oculodentodigital dysplasia
Question: What are the treatments for oculodentodigital dysplasia ?
Answer: These resources address the diagnosis or management of oculodentodigital dysplasia:  - Genetic Testing Registry: Oculodentodigital dysplasia  - MedlinePlus Encyclopedia: Webbing of the fingers or toes  - UC Davis Children's Hospital: Cleft and Craniofacial Reconstruction   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: succinic semialdehyde dehydrogenase deficiency
Question: What is (are) succinic semialdehyde dehydrogenase deficiency ?
Answer: Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.
Source: GHR
Topic: succinic semialdehyde dehydrogenase deficiency
Question: How many people are affected by succinic semialdehyde dehydrogenase deficiency ?
Answer: Approximately 350 people with succinic semialdehyde dehydrogenase deficiency have been reported worldwide.
Source: GHR
Topic: succinic semialdehyde dehydrogenase deficiency
Question: What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ?
Answer: Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals.  A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.
Source: GHR