Dipak-001/mistril_dataset huggingface dataset:
user: What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ?

assistant: Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. Glial cells protect and maintain other nerve cells (neurons). The MLC1 protein functions at junctions that connect neighboring astroglial cells. The role of the MLC1 protein at the cell junction is unknown, but research suggests that it may control the flow of fluids into cells or the strength of cells' attachment to one another (cell adhesion).  Mutations in the HEPACAM gene cause megalencephalic leukoencephalopathy with subcortical cysts types 2A and 2B; together, these types account for 20 percent of all cases. The HEPACAM gene provides instructions for making a protein called GlialCAM. This protein primarily functions in the brain, particularly in glial cells. GlialCAM attaches (binds) to other GlialCAM proteins or to the MLC1 protein and guides them to cell junctions. The function of GlialCAM at the cell junction is unclear.  Most MLC1 gene mutations alter the structure of the MLC1 protein or prevent the cell from producing any of this protein, leading to a lack of functional MLC1 protein at the astroglial cell junctions. HEPACAM gene mutations lead to a protein that is unable to correctly transport GlialCAM and MLC1 proteins to cell junctions. It is unknown how a lack of functional MLC1 or GlialCAM protein at cell junctions in the brain impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.  Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical cysts do not have identified mutations in the MLC1 or HEPACAM gene. In these individuals, the cause of the disorder is unknown.
user: Is megalencephalic leukoencephalopathy with subcortical cysts inherited ?

assistant: All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a 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.  Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM 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.
user: What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ?

assistant: These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts:  - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 1  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2a  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation  - MedlinePlus Encyclopedia: Myelin   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) nephronophthisis ?

assistant: Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.  Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).  About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).  Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Lken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.
user: How many people are affected by nephronophthisis ?

assistant: Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States. Its incidence in other populations is unknown. Nephronophthisis is the most common genetic cause of ESRD in children and young adults.
user: What are the genetic changes related to nephronophthisis ?

assistant: Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes involved in nephronophthisis are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells and tissues, including cells in the kidneys, liver, and brain and the light-sensitive tissue at the back of the eye (the retina).  The genetic mutations involved in nephronophthisis are thought to impair the structure or function of cilia in some way, which likely disrupts important chemical signaling pathways during development. Although researchers believe that defective cilia lead to the features of nephronophthisis, the mechanism remains unclear. It is unknown why some people with mutations in nephronophthisis-associated genes have only kidney problems, while others develop additional signs and symptoms.
user: Is nephronophthisis 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 nephronophthisis ?

assistant: These resources address the diagnosis or management of nephronophthisis:  - Genetic Testing Registry: Adolescent nephronophthisis  - Genetic Testing Registry: Infantile nephronophthisis  - Genetic Testing Registry: Nephronophthisis  - Genetic Testing Registry: Nephronophthisis 1  - Genetic Testing Registry: Nephronophthisis 11  - Genetic Testing Registry: Nephronophthisis 12  - Genetic Testing Registry: Nephronophthisis 14  - Genetic Testing Registry: Nephronophthisis 15  - Genetic Testing Registry: Nephronophthisis 16  - Genetic Testing Registry: Nephronophthisis 18  - Genetic Testing Registry: Nephronophthisis 4  - Genetic Testing Registry: Nephronophthisis 7  - Genetic Testing Registry: Nephronophthisis 9  - Merck Manual Professional Edition   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) multiple sclerosis ?

assistant: Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.  Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.  There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.  Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.  Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.
user: How many people are affected by multiple sclerosis ?

assistant: An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affects approximately 1 in 2,000 to 2,400 people. It is less common closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 in 20,000 people are affected. For unknown reasons, most forms of multiple sclerosis affect women twice as often as men; however, women and men are equally affected by primary progressive MS.
user: What are the genetic changes related to multiple sclerosis ?

assistant: Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking.  The HLA-DRB1 gene belongs 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). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Variations in several HLA genes have been associated with increased multiple sclerosis risk, but one particular variant of the HLA-DRB1 gene, called HLA-DRB1*15:01, is the most strongly linked genetic factor.  The IL7R gene provides instructions for making one piece of two different receptor proteins: the interleukin 7 (IL-7) receptor and the thymic stromal lymphopoietin (TSLP) receptor. Both receptors are embedded in the cell membrane of immune cells. These receptors stimulate signaling pathways that induce the growth and division (proliferation) and survival of immune cells. The genetic variation involved in multiple sclerosis leads to production of an IL-7 receptor that is not embedded in the cell membrane but is instead found inside the cell. It is unknown if this variation affects the TSLP receptor.  Because the HLA-DRB1 and IL-7R genes are involved in the immune system, changes in either might be related to the autoimmune response that damages the myelin sheath and nerve cells and leads to the signs and symptoms of multiple sclerosis. However, it is unclear exactly what role variations in either gene plays in development of the condition.
user: Is multiple sclerosis inherited ?

assistant: The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population.
user: What are the treatments for multiple sclerosis ?

assistant: These resources address the diagnosis or management of multiple sclerosis:  - Gene Review: Gene Review: Multiple Sclerosis Overview  - Multiple Sclerosis Association of America: Treatments for MS  - Multiple Sclerosis International Federation: About MS--Diagnosis  - National Multiple Sclerosis Society: Diagnosing Tools   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) Stevens-Johnson syndrome/toxic epidermal necrolysis ?

assistant: Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.  SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the skin begins to blister and peel, forming very painful raw areas called erosions that resemble a severe hot-water burn. The skin erosions usually start on the face and chest before spreading to other parts of the body. In most affected individuals, the condition also damages the mucous membranes, including the lining of the mouth and the airways, which can cause trouble with swallowing and breathing. The painful blistering can also affect the urinary tract and genitals. SJS/TEN often affects the eyes as well, causing irritation and redness of the conjunctiva, which are the mucous membranes that protect the white part of the eye and line the eyelids, and damage to the clear front covering of the eye (the cornea).  Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening disease. Because the skin normally acts as a protective barrier, extensive skin damage can lead to a dangerous loss of fluids and allow infections to develop. Serious complications can include pneumonia, overwhelming bacterial infections (sepsis), shock, multiple organ failure, and death. About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis.  Among people who survive, long-term effects of SJS/TEN can include changes in skin coloring (pigmentation), dryness of the skin and mucous membranes (xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. Other long-term problems can include impaired taste, difficulty urinating, and genital abnormalities. A small percentage of affected individuals develop chronic dryness or inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment.
user: How many people are affected by Stevens-Johnson syndrome/toxic epidermal necrolysis ?

assistant: SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. Stevens-Johnson syndrome (the less severe form of the condition) is more common than toxic epidermal necrolysis.  People who are HIV-positive and those with a chronic inflammatory disease called systemic lupus erythematosus are more likely to develop SJS/TEN than the general population. The reason for the increased risk is unclear, but immune system factors and exposure to multiple medications may play a role.
user: What are the genetic changes related to Stevens-Johnson syndrome/toxic epidermal necrolysis ?

assistant: Several genetic changes have been found to increase the risk of SJS/TEN in response to triggering factors such as medications. Most of these changes occur in genes that are involved in the normal function of the immune system.  The genetic variations most strongly associated with SJS/TEN occur in the HLA-B gene. This gene is part of 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 HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Certain variations in this gene occur much more often in people with SJS/TEN than in people without the condition.  Studies suggest that the HLA-B gene variations associated with SJS/TEN cause the immune system to react abnormally to certain medications. In a process that is not well understood, the drug causes immune cells called cytotoxic T cells and natural killer (NK) cells to release a substance called granulysin that destroys cells in the skin and mucous membranes. The death of these cells causes the blistering and peeling that is characteristic of SJS/TEN.  Variations in several other HLA and non-HLA genes have also been studied as potential risk factors for SJS/TEN. However, most people with genetic variations that increase the risk of SJS/TEN never develop the disease, even if they are exposed to drugs that can trigger it. Researchers believe that additional genetic and nongenetic factors, many of which are unknown, likely play a role in whether a particular individual develops SJS/TEN.  The drugs most frequently associated with SJS/TEN include several medications that are used to treat seizures (particularly carbamazepine, lamotrigine, and phenytoin); allopurinol, which is used to treat kidney stones and a form of arthritis called gout; a class of antibiotic drugs called sulfonamides; nevirapine, which is used to treat HIV infection; and a type of non-steroidal anti-inflammatory drugs (NSAIDs) called oxicams. Other factors may also trigger SJS/TEN. In particular, these skin reactions have occurred in people with an unusual form of pneumonia caused by infection with Mycoplasma pneumoniae and in people with viral infections, including cytomegalovirus. Researchers suspect that a combination of infections and drugs could contribute to the disease in some individuals. In many cases, no definitive trigger for an individual's SJS/TEN is ever discovered.
user: Is Stevens-Johnson syndrome/toxic epidermal necrolysis inherited ?

assistant: SJS/TEN is not an inherited condition. However, the genetic changes that increase the risk of developing SJS/TEN can be passed from one generation to the next.
user: What are the treatments for Stevens-Johnson syndrome/toxic epidermal necrolysis ?

assistant: These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis:  - Genetic Testing Registry: Stevens-Johnson syndrome  - Genetic Testing Registry: Toxic epidermal necrolysis   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) neurofibromatosis type 2 ?

assistant: Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.  The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.
user: How many people are affected by neurofibromatosis type 2 ?

assistant: Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide.