Dipak-001/mistril_dataset huggingface dataset:
user: What is (are) mucopolysaccharidosis type II ?

assistant: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.  At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open.  Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure.  Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs.  There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.
user: How many people are affected by mucopolysaccharidosis type II ?

assistant: MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males.
user: What are the genetic changes related to mucopolysaccharidosis type II ?

assistant: Mutations in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDS gene reduce or completely eliminate the function of the I2S enzyme. Lack of I2S enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS II, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.
user: Is mucopolysaccharidosis type II 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.
user: What are the treatments for mucopolysaccharidosis type II ?

assistant: These resources address the diagnosis or management of mucopolysaccharidosis type II:  - Baby's First Test  - Gene Review: Gene Review: Mucopolysaccharidosis Type II  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-II  - MedlinePlus Encyclopedia: Hunter syndrome  - MedlinePlus Encyclopedia: Mucopolysaccharides   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: How many people are affected by celiac disease ?

assistant: Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide.
user: What are the genetic changes related to celiac disease ?

assistant: The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.  The proteins produced from the HLA-DQA1 and HLA-DQB1 genes attach (bind) to each other to form a functional protein complex called an antigen-binding DQ heterodimer. This complex, which is present on the surface of certain immune system cells, attaches to protein fragments (peptides) outside the cell. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.  Celiac disease is associated with an inappropriate immune response to a segment of the gluten protein called gliadin. This inappropriate activation of the immune system causes inflammation that damages the body's organs and tissues and leads to the signs and symptoms of celiac disease.  Almost all people with celiac disease have specific variants of the HLA-DQA1 and HLA-DQB1 genes, which seem to increase the risk of an inappropriate immune response to gliadin. However, these variants are also found in 30 percent of the general population, and only 3 percent of individuals with the gene variants develop celiac disease.  It appears likely that other contributors, such as environmental factors and changes in other genes, also influence the development of this complex disorder.
user: Is celiac disease inherited ?

assistant: Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown.
user: What are the treatments for celiac disease ?

assistant: These resources address the diagnosis or management of celiac disease:  - Beth Israel Deaconess: Celiac Center  - Columbia University Celiac Disease Center  - Gene Review: Gene Review: Celiac Disease  - Genetic Testing Registry: Celiac disease  - Massachusetts General Hospital Center for Celiac Research and Treatment  - MedlinePlus Encyclopedia: Celiac Disease Nutritional Considerations  - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Gluten-Free Diet Guide  - University of Chicago Celiac Disease 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
user: What is (are) IRAK-4 deficiency ?

assistant: IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age.  Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.
user: How many people are affected by IRAK-4 deficiency ?

assistant: IRAK-4 deficiency is a very rare condition, although the exact prevalence is unknown. At least 49 individuals with this condition have been described in the scientific literature.
user: What are the genetic changes related to IRAK-4 deficiency ?

assistant: IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and the initiation of inflammation to fight infection. This signaling pathway is part of the innate immune response, which is the body's early, nonspecific response to pathogens.  Mutations in the IRAK4 gene lead to the production of a nonfunctional protein or no protein at all. The loss of functional IRAK-4 protein prevents the immune system from triggering inflammation in response to pathogens that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive.
user: Is IRAK-4 deficiency 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 IRAK-4 deficiency ?

assistant: These resources address the diagnosis or management of IRAK-4 deficiency:  - Genetic Testing Registry: IRAK4 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) Weissenbacher-Zweymller syndrome ?

assistant: Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED).  Infants born with Weissenbacher-Zweymller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate).  The skeletal features of Weissenbacher-Zweymller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymller syndrome.
user: How many people are affected by Weissenbacher-Zweymller syndrome ?

assistant: Weissenbacher-Zweymller syndrome is very rare; only a few families with the disorder have been reported worldwide.
user: What are the genetic changes related to Weissenbacher-Zweymller syndrome ?

assistant: Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. At least one mutation in the COL11A2 gene is known to cause Weissenbacher-Zweymller syndrome. This mutation disrupts the assembly of type XI collagen molecules, resulting in delayed bone development and the other features of this disorder.
user: Is Weissenbacher-Zweymller syndrome inherited ?

assistant: This 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.
user: What are the treatments for Weissenbacher-Zweymller syndrome ?

assistant: These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome:  - Genetic Testing Registry: Weissenbacher-Zweymuller 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
user: What is (are) hereditary angioedema ?

assistant: Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.  Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. On average, untreated individuals have an attack every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.  There are three types of hereditary angioedema, called types I, II, and III, which can be distinguished by their underlying causes and levels of a protein called C1 inhibitor in the blood. The different types have similar signs and symptoms. Type III was originally thought to occur only in women, but families with affected males have been identified.
user: How many people are affected by hereditary angioedema ?

assistant: Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is the most common, accounting for 85 percent of cases. Type II occurs in 15 percent of cases, and type III is very rare.
user: What are the genetic changes related to hereditary angioedema ?

assistant: Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. C1 inhibitor blocks the activity of certain proteins that promote inflammation. Mutations that cause hereditary angioedema type I lead to reduced levels of C1 inhibitor in the blood, while mutations that cause type II result in the production of a C1 inhibitor that functions abnormally. Without the proper levels of functional C1 inhibitor, excessive amounts of a protein fragment (peptide) called bradykinin are generated. Bradykinin promotes inflammation by increasing the leakage of fluid through the walls of blood vessels into body tissues. Excessive accumulation of fluids in body tissues causes the episodes of swelling seen in individuals with hereditary angioedema type I and type II.  Mutations in the F12 gene are associated with some cases of hereditary angioedema type III. This gene provides instructions for making a protein called coagulation factor XII. In addition to playing a critical role in blood clotting (coagulation), factor XII is also an important stimulator of inflammation and is involved in the production of bradykinin. Certain mutations in the F12 gene result in the production of factor XII with increased activity. As a result, more bradykinin is generated and blood vessel walls become more leaky, which leads to episodes of swelling in people with hereditary angioedema type III.  The cause of other cases of hereditary angioedema type III remains unknown. Mutations in one or more as-yet unidentified genes may be responsible for the disorder in these cases.
user: Is hereditary angioedema inherited ?

assistant: This 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.  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.
user: What are the treatments for hereditary angioedema ?

assistant: These resources address the diagnosis or management of hereditary angioedema:  - Genetic Testing Registry: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor  - Genetic Testing Registry: Hereditary angioneurotic edema  - Genetic Testing Registry: Hereditary angioneurotic edema with normal C1 esterase inhibitor activity  - MedlinePlus Encyclopedia: Hereditary angioedema   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) spondylothoracic dysostosis ?

assistant: Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism.  The spine and rib abnormalities cause other signs and symptoms of spondylothoracic dysostosis. Infants with this condition are born with a small chest that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand, the narrow chest forces the muscle that separates the abdomen from the chest cavity (the diaphragm) down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia).  Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a similar condition with abnormalities of the spine and ribs. The two conditions have been grouped in the past, and both are referred to as Jarcho-Levin syndrome; however, they are now considered distinct conditions.
user: How many people are affected by spondylothoracic dysostosis ?

assistant: Spondylothoracic dysostosis affects about one in 200,000 people worldwide. However, it is much more common in people of Puerto Rican ancestry, affecting approximately one in 12,000 people.
user: What are the genetic changes related to spondylothoracic dysostosis ?

assistant: The MESP2 gene provides instructions for a protein that plays a critical role in the development of vertebrae. Specifically, it is involved in separating vertebrae from one another during early development, a process called somite segmentation. Mutations in the MESP2 gene prevent the production of any protein or lead to the production of an abnormally short, nonfunctional protein. When the MESP2 protein is nonfunctional or absent, somite segmentation does not occur properly, which results in the malformation and fusion of the bones of the spine and ribs seen in spondylothoracic dysostosis.
user: Is spondylothoracic dysostosis 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 spondylothoracic dysostosis ?

assistant: These resources address the diagnosis or management of spondylothoracic dysostosis:  - Cleveland Clinic: Spine X-ray  - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive   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: How many people are affected by juvenile idiopathic arthritis ?

assistant: The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic arthritis, which accounts for about half of all cases. For reasons that are unclear, females seem to be affected with juvenile idiopathic arthritis somewhat more frequently than males. However, in enthesitis-related juvenile idiopathic arthritis males are affected more often than females. The incidence of juvenile idiopathic arthritis varies across different populations and ethnic groups.