Dipak-001/mistril_dataset huggingface dataset:
user: What are the genetic changes related to mannose-binding lectin deficiency ?

assistant: 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.
user: Is mannose-binding lectin deficiency inherited ?

assistant: 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.
user: What are the treatments for mannose-binding lectin deficiency ?

assistant: 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
user: What is (are) keratoderma with woolly hair ?

assistant: 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.
user: How many people are affected by keratoderma with woolly hair ?

assistant: 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.
user: What are the genetic changes related to keratoderma with woolly hair ?

assistant: 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.
user: Is keratoderma with woolly hair inherited ?

assistant: 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.
user: What are the treatments for keratoderma with woolly hair ?

assistant: 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
user: What is (are) alpha-mannosidosis ?

assistant: 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.
user: How many people are affected by alpha-mannosidosis ?

assistant: Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.
user: What are the genetic changes related to alpha-mannosidosis ?

assistant: 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.
user: Is alpha-mannosidosis inherited ?

assistant: 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.
user: What are the treatments for alpha-mannosidosis ?

assistant: 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
user: What is (are) warfarin resistance ?

assistant: Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, or a prior blood clot in the deep veins of the arms or legs (deep vein thrombosis).  There are two types of warfarin resistance: incomplete and complete. Those with incomplete warfarin resistance can achieve the benefits of warfarin treatment with a high dose of warfarin. Individuals with complete warfarin resistance do not respond to warfarin treatment, no matter how high the dose. If people with warfarin resistance require treatment with warfarin and take the average dose, they will remain at risk of developing a potentially harmful blood clot.  Both types of warfarin resistance are related to how the body processes warfarin. In some people with warfarin resistance, their blood clotting process does not react effectively to the drug. Others with this resistance rapidly break down (metabolize) warfarin, so the medication is quickly processed by their bodies; these individuals are classified as "fast metabolizers" or "rapid metabolizers" of warfarin. The severity of these abnormal processes determines whether the warfarin resistance is complete or incomplete.  Warfarin resistance does not appear to cause any health problems other than those associated with warfarin drug treatment.
user: How many people are affected by warfarin resistance ?

assistant: Warfarin resistance is thought to be a rare condition, although its prevalence is unknown.
user: What are the genetic changes related to warfarin resistance ?

assistant: Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the VKORC1 gene account for 20 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism.  The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots. Warfarin prevents (inhibits) the action of VKORC1 by binding to the complex and preventing it from binding to and activating the clotting proteins, stopping clot formation. Certain VKORC1 gene polymorphisms lead to the formation of a VKORC1 enzyme with a decreased ability to bind to warfarin. This reduction in warfarin binding causes incomplete warfarin resistance and results in more warfarin being needed to inhibit the VKORC1 enzyme and stop the clotting process. If no warfarin can bind to the VKORC1 enzyme, the result is complete warfarin resistance.  While changes in specific genes affect how the body reacts to warfarin, many other factors, including gender, age, weight, diet, and other medications, also play a role in the body's interaction with this drug.
user: Is warfarin resistance inherited ?

assistant: The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin resistance have a higher tolerance for the drug's effect or are able to process the drug more quickly.
user: What are the treatments for warfarin resistance ?

assistant: These resources address the diagnosis or management of warfarin resistance:  - American Society of Hematology: Antithrombotic Therapy  - MedlinePlus Drugs & Supplements: Warfarin  - PharmGKB   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
user: What is (are) X-linked sideroblastic anemia ?

assistant: X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name.  The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs.
user: How many people are affected by X-linked sideroblastic anemia ?

assistant: This form of anemia is uncommon. However, researchers believe that it may not be as rare as they once thought. Increased awareness of the disease has led to more frequent diagnoses.
user: What are the genetic changes related to X-linked sideroblastic anemia ?

assistant: Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. The ALAS2 gene provides instructions for making an enzyme called erythroid ALA-synthase, which plays a critical role in the production of heme (a component of the hemoglobin protein) in bone marrow.  ALAS2 mutations impair the activity of erythroid ALA-synthase, which disrupts normal heme production and prevents erythroblasts from making enough hemoglobin. Because almost all of the iron transported into erythroblasts is normally incorporated into heme, the reduced production of heme leads to a buildup of excess iron in these cells. Additionally, the body attempts to compensate for the hemoglobin shortage by absorbing more iron from the diet. This buildup of excess iron damages the body's organs. Low hemoglobin levels and the resulting accumulation of iron in the body's organs lead to the characteristic features of X-linked sideroblastic anemia.  People who have a mutation in another gene, HFE, along with a mutation in the ALAS2 gene may experience a more severe form of X-linked sideroblastic anemia. In this uncommon situation, the combined effect of these two mutations can lead to a more serious iron overload. Mutations in the HFE gene alone can increase the absorption of iron from the diet and result in hemochromatosis, which is another type of iron overload disorder.
user: Is X-linked sideroblastic anemia inherited ?

assistant: 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 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 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.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an ALAS2 mutation can pass on the mutated gene, but most do not develop any symptoms associated with X-linked sideroblastic anemia. However, carriers may have abnormally small, pale red blood cells and related changes that can be detected with a blood test.
user: What are the treatments for X-linked sideroblastic anemia ?

assistant: These resources address the diagnosis or management of X-linked sideroblastic anemia:  - Genetic Testing Registry: Hereditary sideroblastic anemia  - MedlinePlus Encyclopedia: Anemia   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
user: What is (are) hereditary xanthinuria ?

assistant: Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally build up to create kidney stones. These stones can impair kidney function and ultimately cause kidney failure. Related signs and symptoms can include abdominal pain, recurrent urinary tract infections, and blood in the urine (hematuria). Less commonly, xanthine crystals build up in the muscles, causing pain and cramping. In some people with hereditary xanthinuria, the condition does not cause any health problems.  Researchers have described two major forms of hereditary xanthinuria, types I and II. The types are distinguished by the enzymes involved; they have the same signs and symptoms.
user: How many people are affected by hereditary xanthinuria ?

assistant: The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69,000 people worldwide. However, researchers suspect that the true incidence may be higher because some affected individuals have no symptoms and are never diagnosed with the condition. Hereditary xanthinuria appears to be more common in people of Mediterranean or Middle Eastern ancestry. About 150 cases of this condition have been reported in the medical literature.