sarnsrun/medquad huggingface dataset:
Topic: inclusion body myopathy 2
Question: What is (are) inclusion body myopathy 2 ?
Answer: Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.  The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps, which are a group of large muscles at the front of the thigh. This condition also does not affect muscles of the eye or heart, and it does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear.  People with the characteristic features of inclusion body myopathy 2 have been described in several different populations. When the condition was first reported in Japanese families, researchers called it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these conditions are variations of a single disorder caused by mutations in the same gene.
Source: GHR
Topic: inclusion body myopathy 2
Question: How many people are affected by inclusion body myopathy 2 ?
Answer: More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. Inclusion body myopathy 2 has also been found in several other ethnic groups worldwide.
Source: GHR
Topic: inclusion body myopathy 2
Question: What are the genetic changes related to inclusion body myopathy 2 ?
Answer: Mutations in the GNE gene cause inclusion body myopathy 2. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions including cell movement (migration), attaching cells to one another (adhesion), signaling between cells, and inflammation.  The mutations responsible for inclusion body myopathy 2 reduce the activity of the enzyme produced from the GNE gene, which decreases the production of sialic acid. As a result, less of this simple sugar is available to attach to cell surface molecules. Researchers are working to determine how a shortage of sialic acid leads to progressive muscle weakness in people with inclusion body myopathy 2. Sialic acid is important for the normal function of many different cells and tissues, so it is unclear why the signs and symptoms of this disorder appear to be limited to the skeletal muscles.
Source: GHR
Topic: inclusion body myopathy 2
Question: Is inclusion body myopathy 2 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: inclusion body myopathy 2
Question: What are the treatments for inclusion body myopathy 2 ?
Answer: These resources address the diagnosis or management of inclusion body myopathy 2:  - Gene Review: Gene Review: GNE-Related Myopathy  - Genetic Testing Registry: Inclusion body myopathy 2  - Genetic Testing Registry: Nonaka myopathy   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: eosinophil peroxidase deficiency
Question: What is (are) eosinophil peroxidase deficiency ?
Answer: Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation. The cells then release proteins and other compounds that have a toxic effect on severely damaged cells or invading organisms. One of these proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, eosinophils have little or no eosinophil peroxidase. A lack of this protein does not seem to affect the eosinophils' ability to carry out an immune response.  Because eosinophil peroxidase deficiency does not cause any health problems, this condition is often diagnosed when blood tests are done for other reasons or when a family member has been diagnosed with the condition.
Source: GHR
Topic: eosinophil peroxidase deficiency
Question: How many people are affected by eosinophil peroxidase deficiency ?
Answer: Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in 1,000 Yemenite Jews, in 3 in 1,000 North-African Jews, and in 1 in 1,000 Iraqi Jews. In northeastern Italy, the condition occurs in approximately 1 in 14,000 individuals; in Japan it occurs in 1 in 36,000 people; and in Luxembourg, eosinophil peroxidase deficiency is thought to occur in 1 in 100,000 people.
Source: GHR
Topic: eosinophil peroxidase deficiency
Question: What are the genetic changes related to eosinophil peroxidase deficiency ?
Answer: Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and parasites. These toxic molecules also play a role in regulating inflammation by fighting microbial invaders.  EPX gene mutations reduce or prevent eosinophil peroxidase production or result in a protein that is unstable and nonfunctional. As a result, eosinophils have severely reduced amounts of eosinophil peroxidase or none at all. Other proteins within affected eosinophils are normal, and while the cells lacking eosinophil peroxidase are smaller and may have structural changes, the loss of eosinophil peroxidase does not appear to impair the function of eosinophils.
Source: GHR
Topic: eosinophil peroxidase deficiency
Question: Is eosinophil peroxidase 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: eosinophil peroxidase deficiency
Question: What are the treatments for eosinophil peroxidase deficiency ?
Answer: These resources address the diagnosis or management of eosinophil peroxidase deficiency:  - Genetic Testing Registry: Eosinophil peroxidase deficiency  - Tulane University Eosinophilic Disorder Center   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: mannose-binding lectin deficiency
Question: What is (are) mannose-binding lectin deficiency ?
Answer: Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.  Infants and young children with mannose-binding lectin deficiency seem to be more susceptible to infections, but adults can also develop recurrent infections. In addition, affected individuals undergoing chemotherapy or taking drugs that suppress the immune system are especially prone to infections.
Source: GHR
Topic: mannose-binding lectin deficiency
Question: How many people are affected by mannose-binding lectin deficiency ?
Answer: Mannose-binding lectin deficiency is thought to affect approximately 5 to 10 percent of people worldwide; however, many affected individuals have no signs or symptoms related to low mannose-binding lectin levels. The condition is more common in certain populations, such as sub-Saharan Africans.
Source: GHR
Topic: mannose-binding lectin deficiency
Question: What are the genetic changes related to mannose-binding lectin deficiency ?
Answer: Relatively common mutations in the MBL2 gene can lead to mannose-binding lectin deficiency. This gene provides instructions for making a protein that assembles into a complex called mannose-binding lectin. Functional mannose-binding lectins are made up of two to six protein groups called trimers, which are each composed of three of the protein pieces (subunits) produced from the MBL2 gene.  Mannose-binding lectin plays an important role in the body's immune response by attaching to foreign invaders such as bacteria, viruses, or yeast and turning on (activating) the complement system. The complement system is a group of immune system proteins that work together to destroy foreign invaders (pathogens), trigger inflammation, and remove debris from cells and tissues. Mannose-binding lectin can also stimulate special immune cells to engulf and break down the attached pathogen.  Disease-associated mutations in the MBL2 gene can reduce the production of the mannose-binding lectin subunit or eliminate the subunit's ability to assemble into functional mannose-binding lectin. A decrease in the availability of the normal subunit protein may lead to a reduction of the functional mannose-binding lectin in blood. With decreased levels of mannose-binding lectin, the body does not recognize and fight foreign invaders efficiently. Consequently, infections can be more common in people with this condition.  However, not everyone with a change in the MBL2 gene has decreased levels of mannose-binding lectin, and not everyone with decreased protein levels is prone to infection. Researchers believe that a number of factors, including other genetic and environmental factors, are involved in the development of mannose-binding lectin deficiency and susceptibility to infection.
Source: GHR
Topic: mannose-binding lectin deficiency
Question: Is mannose-binding lectin deficiency inherited ?
Answer: The inheritance pattern of mannose-binding lectin deficiency is unclear. Some reports show that having a disease-associated mutation in one copy of the MBL2 gene in each cell can lead to the condition, while other reports state that a mutation in both copies of the gene is necessary. It is important to note that people inherit an increased risk of developing mannose-binding lectin deficiency, not the condition itself. Not all people who inherit mutations in this gene will develop the condition.
Source: GHR
Topic: mannose-binding lectin deficiency
Question: What are the treatments for mannose-binding lectin deficiency ?
Answer: These resources address the diagnosis or management of mannose-binding lectin deficiency:  - Genetic Testing Registry: Mannose-binding protein 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: keratoderma with woolly hair
Question: What is (are) keratoderma with woolly hair ?
Answer: Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.  Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.  Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.
Source: GHR
Topic: keratoderma with woolly hair
Question: How many people are affected by keratoderma with woolly hair ?
Answer: Keratoderma with woolly hair is rare; its prevalence worldwide is unknown.  Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. This form of the condition may affect up to 1 in 1,000 people from the Greek islands.  Type II (Carvajal syndrome), type III, and type IV have each been identified in only a small number of families worldwide.
Source: GHR
Topic: keratoderma with woolly hair
Question: What are the genetic changes related to keratoderma with woolly hair ?
Answer: Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin and heart muscle cells. Desmosomes help attach cells to one another, which provides strength and stability to tissues. They also play a role in signaling between cells.  Mutations in the JUP, DSP, or DSC2 gene alter the structure and impair the function of desmosomes. Abnormal or missing desmosomes prevent cells from sticking to one another effectively, which likely makes the hair, skin, and heart muscle more fragile. Over time, as these tissues are exposed to mechanical stress (for example, friction on the surface of the skin or the constant contraction and relaxation of the heart muscle), they become damaged and can no longer function normally. This mechanism probably underlies the skin, hair, and heart problems that occur in keratoderma with woolly hair. Some studies suggest that abnormal cell signaling may also contribute to cardiomyopathy in people with this group of conditions.  Unlike the other genes associated with keratoderma with woolly hair, the KANK2 gene provides instructions for making a protein that is not part of desmosomes. Instead, it regulates other proteins called steroid receptor coactivators (SRCs), whose function is to help turn on (activate) certain genes. SRCs play important roles in tissues throughout the body, including the skin. Studies suggest that mutations in the KANK2 gene disrupt the regulation of SRCs, which leads to abnormal gene activity. However, it is unclear how these changes underlie the skin and hair abnormalities in keratoderma with woolly hair type IV.
Source: GHR
Topic: keratoderma with woolly hair
Question: Is keratoderma with woolly hair inherited ?
Answer: Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, 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 usually do not show signs and symptoms of the condition.
Source: GHR
Topic: keratoderma with woolly hair
Question: What are the treatments for keratoderma with woolly hair ?
Answer: These resources address the diagnosis or management of keratoderma with woolly hair:  - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy  - Gene Review: Gene Review: Dilated Cardiomyopathy Overview  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11  - Genetic Testing Registry: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis  - Genetic Testing Registry: Naxos disease  - Genetic Testing Registry: Palmoplantar keratoderma and woolly hair  - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Diagnosed?  - National Heart, Lung, and Blood Institute: How is Cardiomyopathy 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: alpha-mannosidosis
Question: What is (are) alpha-mannosidosis ?
Answer: Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), bowed legs or knock knees, and deterioration of the bones and joints.  Affected individuals may also experience difficulty in coordinating movements (ataxia); muscle weakness (myopathy); delay in developing motor skills such as sitting and walking; speech impairments; increased risk of infections; enlargement of the liver and spleen (hepatosplenomegaly); a buildup of fluid in the brain (hydrocephalus); hearing loss; and a clouding of the lens of the eye (cataract). Some people with alpha-mannosidosis experience psychiatric symptoms such as depression, anxiety, or hallucinations; episodes of psychiatric disturbance may be triggered by stressors such as having undergone surgery, emotional upset, or changes in routine.  The signs and symptoms of alpha-mannosidosis can range from mild to severe. The disorder may appear in infancy with rapid progression and severe neurological deterioration. Individuals with this early-onset form of alpha-mannosidosis often do not survive past childhood. In the most severe cases, an affected fetus may die before birth. Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. People with later-onset alpha-mannosidosis may survive into their fifties. The mildest cases may be detected only through laboratory testing and result in few if any symptoms.
Source: GHR
Topic: alpha-mannosidosis
Question: How many people are affected by alpha-mannosidosis ?
Answer: Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.
Source: GHR
Topic: alpha-mannosidosis
Question: What are the genetic changes related to alpha-mannosidosis ?
Answer: Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose.  Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause cells to malfunction and eventually die. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis.
Source: GHR
Topic: alpha-mannosidosis
Question: Is alpha-mannosidosis 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: alpha-mannosidosis
Question: What are the treatments for alpha-mannosidosis ?
Answer: These resources address the diagnosis or management of alpha-mannosidosis:  - Gene Review: Gene Review: Alpha-Mannosidosis  - Genetic Testing Registry: Deficiency of alpha-mannosidase   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