Druvith/medqa1 huggingface dataset:
Question:  Is renal tubular acidosis with deafness 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 renal tubular acidosis with deafness ?
Answer: These resources address the diagnosis or management of renal tubular acidosis with deafness:  - Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness  - MedlinePlus Encyclopedia: Audiometry  - MedlinePlus Encyclopedia: Kidney Function Tests   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) anhidrotic ectodermal dysplasia with immune deficiency ?
Answer: Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth.  Skin abnormalities in people with EDA-ID include areas that are dry, wrinkled, or darker in color than the surrounding skin. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed. Most people with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather.  The immune deficiency in EDA-ID varies among people with this condition. People with EDA-ID often produce abnormally low levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies makes it difficult for people with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections.  People with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and GI tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis.  The life expectancy of affected individuals depends of the severity of the immune deficiency; most people with this condition do not live past childhood.  There are two forms of this condition that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.
Question:  How many people are affected by anhidrotic ectodermal dysplasia with immune deficiency ?
Answer: The prevalence of the X-linked recessive type of EDA-ID is estimated to be 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have been described in the scientific literature.
Question:  What are the genetic changes related to anhidrotic ectodermal dysplasia with immune deficiency ?
Answer: Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. The proteins produced from these two genes regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins (a protein complex) that binds to DNA and controls the activity of other genes, including genes that direct the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis).  The IKBKG and NFKBIA gene mutations responsible for EDA-ID result in the production of proteins with impaired function, which reduces activation of nuclear factor-kappa-B. These changes disrupt certain signaling pathways within immune cells, resulting in immune deficiency. It is unclear how gene mutations alter the development of the skin, teeth, sweat glands, and other tissues, although it is likely caused by abnormal nuclear factor-kappa-B signaling in other types of cells.
Question:  Is anhidrotic ectodermal dysplasia with immune deficiency inherited ?
Answer: When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG 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. Because it is unlikely that females will have two altered copies of the IKBKG 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.  When EDA-ID is caused by mutations in the NFKBIA gene, the 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. Most 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 anhidrotic ectodermal dysplasia with immune deficiency ?
Answer: These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency:  - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency  - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia with immune deficiency  - MedlinePlus Encyclopedia: Immunodeficiency Disorders   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) McLeod neuroacanthocytosis syndrome ?
Answer: McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.  McLeod neuroacanthocytosis syndrome affects the brain and spinal cord (central nervous system). Affected individuals have involuntary movements, including jerking motions (chorea), particularly of the arms and legs, and muscle tensing (dystonia) in the face and throat, which can cause grimacing and vocal tics (such as grunting and clicking noises). Dystonia of the tongue can lead to swallowing difficulties. Seizures occur in approximately half of all people with McLeod neuroacanthocytosis syndrome. Individuals with this condition may develop difficulty processing, learning, and remembering information (cognitive impairment). They may also develop psychiatric disorders, such as depression, bipolar disorder, psychosis, or obsessive-compulsive disorder.  People with McLeod neuroacanthocytosis syndrome also have problems with their muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy). Sometimes, nerves that connect to muscles atrophy (neurogenic atrophy), leading to loss of muscle mass and impaired movement. Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). Life-threatening heart problems such as irregular heartbeats (arrhythmia) and a weakened and enlarged heart (dilated cardiomyopathy) are common in individuals with this disorder.  The signs and symptoms of McLeod neuroacanthocytosis syndrome usually begin in mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability to take care of oneself, anxiety, depression, and changes in personality may be the first signs of this condition. While these behavioral changes are typically not progressive, the movement and muscle problems and intellectual impairments tend to worsen with age.
Question:  How many people are affected by McLeod neuroacanthocytosis syndrome ?
Answer: McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have been reported worldwide.
Question:  What are the genetic changes related to McLeod neuroacanthocytosis syndrome ?
Answer: Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain, muscle, and heart. The function of the XK protein is unclear; researchers believe that it might play a role in transporting substances into and out of cells. On red blood cells, the XK protein attaches to another blood group protein, the Kell protein. The function of this blood group complex is unknown.  XK gene mutations typically lead to the production of an abnormally short, nonfunctional protein or cause no protein to be produced at all. A lack of XK protein leads to an absence of Kx antigens on red blood cells; the Kell antigen is also less prevalent. The absence of Kx antigen and reduction of Kell antigen is known as the "McLeod phenotype," and refers only to the red blood cells. It is not known how the lack of XK protein leads to the movement problems and other features of McLeod neuroacanthocytosis syndrome.
Question:  Is McLeod neuroacanthocytosis syndrome inherited ?
Answer: McLeod neuroacanthocytosis 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 must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. Rarely, females with a mutation in one copy of the XK gene can have the characteristic misshapen blood cells and movement problems associated with McLeod neuroacanthocytosis syndrome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question:  What are the treatments for McLeod neuroacanthocytosis syndrome ?
Answer: These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome:  - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome  - Genetic Testing Registry: McLeod neuroacanthocytosis 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) Alagille syndrome ?
Answer: Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.  One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). As a result, bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin (xanthomas).  Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Pulmonic stenosis may occur along with a hole between the two lower chambers of the heart (ventricular septal defect) and other heart abnormalities. This combination of heart defects is called tetralogy of Fallot.  People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys. Affected individuals may have an unusual butterfly shape of the bones of the spinal column (vertebrae) that can be seen in an x-ray.  Problems associated with Alagille syndrome generally become evident in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms range from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.  Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do not have liver disease or other features typical of the disorder.
Question:  How many people are affected by Alagille syndrome ?
Answer: The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy.
Question:  What are the genetic changes related to Alagille syndrome ?
Answer: In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The JAG1 and NOTCH2 genes provide instructions for making proteins that fit together to trigger interactions called Notch signaling between neighboring cells during embryonic development. This signaling influences how the cells are used to build body structures in the developing embryo. Changes in either the JAG1 gene or NOTCH2 gene probably disrupt the Notch signaling pathway. As a result, errors may occur during development, especially affecting the bile ducts, heart, spinal column, and certain facial features.
Question:  Is Alagille syndrome inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder.  In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent. Other cases result from new mutations in the gene or new deletions of genetic material on chromosome 20 that occur as random events during the formation of reproductive cells (eggs or sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family.
Question:  What are the treatments for Alagille syndrome ?
Answer: These resources address the diagnosis or management of Alagille syndrome:  - Boston Children's Hospital  - Children's Hospital of Philadelphia  - Children's Hospital of Pittsburgh  - Gene Review: Gene Review: Alagille Syndrome  - Genetic Testing Registry: Alagille syndrome 1  - Genetic Testing Registry: Arteriohepatic dysplasia  - MedlinePlus Encyclopedia: Tetralogy of Fallot   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:  How many people are affected by Nicolaides-Baraitser syndrome ?
Answer: Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature.
Question:  What are the genetic changes related to Nicolaides-Baraitser syndrome ?
Answer: Nicolaides-Baraitser syndrome is caused by mutations in the SMARCA2 gene. This gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. To provide energy for chromatin remodeling, the SMARCA2 protein uses a molecule called ATP.  The SMARCA2 gene mutations that cause Nicolaides-Baraitser syndrome result in the production of an altered protein that interferes with the normal function of the SWI/SNF complexes. These altered proteins are able to form SWI/SNF complexes, but the complexes are nonfunctional. As a result, they cannot participate in chromatin remodeling. Disturbance of this regulatory process alters the activity of many genes, which likely explains the diverse signs and symptoms of Nicolaides-Baraitser syndrome.
Question:  Is Nicolaides-Baraitser syndrome inherited ?
Answer: Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Question:  What are the treatments for Nicolaides-Baraitser syndrome ?
Answer: These resources address the diagnosis or management of Nicolaides-Baraitser syndrome:  - Gene Review: Gene Review: Nicolaides-Baraitser Syndrome  - Genetic Testing Registry: Nicolaides-Baraitser 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) laryngo-onycho-cutaneous syndrome ?
Answer: Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.  One of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood.  In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth.  Another common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities.  LOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterized by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.
Question:  How many people are affected by laryngo-onycho-cutaneous syndrome ?
Answer: LOC syndrome is a rare disorder that primarily affects families of Punjabi background from India and Pakistan, although the condition has also been reported in one family from Iran.
Question:  What are the genetic changes related to laryngo-onycho-cutaneous syndrome ?
Answer: LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. This protein is made up of three subunits, called alpha, beta, and gamma. The LAMA3 gene carries instructions for the alpha subunit; the beta and gamma subunits are produced from other genes.  The laminin 332 protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Studies suggest that laminin 332 is also involved in wound healing. Additionally, researchers have proposed roles for laminin 332 in the clear outer covering of the eye (the cornea) and in the development of tooth enamel.  The mutations involved in LOC syndrome alter the structure of one version of the alpha subunit of laminin 332 (called alpha-3a). Laminins made with the altered subunit cannot effectively attach the epidermis to underlying layers of skin or regulate wound healing. These abnormalities of laminin 332 cause the cutaneous erosions and overgrowth of granulation tissue that are characteristic of LOC syndrome. The inability of laminin 332 to perform its other functions leads to the nail and tooth abnormalities that occur in this condition.
Question:  Is laryngo-onycho-cutaneous syndrome 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 laryngo-onycho-cutaneous syndrome ?
Answer: These resources address the diagnosis or management of laryngo-onycho-cutaneous syndrome:  - Genetic Testing Registry: Laryngoonychocutaneous 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