Dipak-001/mistril_dataset huggingface dataset:
user: How many people are affected by ichthyosis with confetti ?

assistant: Ichthyosis with confetti is a rare disorder. Fewer than 20 affected individuals have been described in the medical literature.
user: What are the genetic changes related to ichthyosis with confetti ?

assistant: Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attaches to another keratin protein (produced from a different gene) to form fibers called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the skin.  KRT10 gene mutations associated with ichthyosis with confetti alter the keratin 10 protein. The altered protein is abnormally transported to the nucleus of cells, where it cannot form networks of intermediate filaments. Loss of these networks disrupts the epidermis, contributing to the red, scaly skin. However, in some abnormal cells, the mutated gene corrects itself through a complex process by which genetic material is exchanged between chromosomes. As a result, normal keratin 10 protein is produced and remains in the cytoplasm. The cell becomes normal and, as it continues to grow and divide, forms small patches of normal skin that give ichthyosis with confetti its name.
user: Is ichthyosis with confetti inherited ?

assistant: Ichthyosis with confetti is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Usually, the condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation). In these cases, the affected individuals have no history of the disorder in their family. In some cases, an affected person inherits the mutation from one affected parent.
user: What are the treatments for ichthyosis with confetti ?

assistant: These resources address the diagnosis or management of ichthyosis with confetti:  - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips  - Foundation for Ichthyosis and Related Skin Types (FIRST): Treating Ichthyosis   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) Emery-Dreifuss muscular dystrophy ?

assistant: Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.  Almost all people with Emery-Dreifuss muscular dystrophy have heart problems by adulthood. In many cases, these heart problems stem from abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to an unusually slow heartbeat (bradycardia), fainting (syncope), and an increased risk of stroke and sudden death.  The types of Emery-Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. Although the three types have similar signs and symptoms, researchers believe that the features of autosomal dominant Emery-Dreifuss muscular dystrophy are more variable than the other types. A small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.
user: How many people are affected by Emery-Dreifuss muscular dystrophy ?

assistant: X-linked Emery-Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people. The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown.
user: What are the genetic changes related to Emery-Dreifuss muscular dystrophy ?

assistant: Mutations in the EMD and LMNA genes cause Emery-Dreifuss muscular dystrophy.  The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.  Most cases of Emery-Dreifuss muscular dystrophy are caused by mutations in the EMD gene. This gene provides instructions for making a protein called emerin, which appears to be essential for the normal function of skeletal and cardiac muscle. Most EMD gene mutations prevent the production of any functional emerin. It remains unclear how a lack of this protein results in the signs and symptoms of Emery-Dreifuss muscular dystrophy.  Less commonly, Emery-Dreifuss muscular dystrophy results from mutations in the LMNA gene. This gene provides instructions for making two very similar proteins, lamin A and lamin C. Most of the LMNA mutations that cause this condition result in the production of an altered version of these proteins. Researchers are investigating how the altered versions of lamins A and C lead to muscle wasting and heart problems in people with Emery-Dreifuss muscular dystrophy.
user: Is Emery-Dreifuss muscular dystrophy inherited ?

assistant: Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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. 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 females (who have two X chromosomes), a mutation typically must be present in both copies of the EMD gene to cause X-linked Emery-Dreifuss muscular dystrophy. Females who carry one altered copy of the EMD gene usually do not experience the muscle weakness and wasting that are characteristic of this condition. In some cases, however, they may experience heart problems associated with this disorder.  Other cases of Emery-Dreifuss muscular dystrophy result from mutations in the LMNA gene and are considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. About 75 percent of autosomal dominant Emery-Dreifuss muscular dystrophy cases are caused by new mutations in the LMNA gene and occur in people with no history of the disorder in their family. In the remaining cases, people with this form of the condition inherit the altered LMNA gene from an affected parent.  Rarely, LMNA gene mutations can cause a form of Emery-Dreifuss muscular dystrophy that is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
user: What are the treatments for Emery-Dreifuss muscular dystrophy ?

assistant: These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy:  - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy  - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy  - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy 1, X-linked  - MedlinePlus Encyclopedia: Arrhythmias  - MedlinePlus Encyclopedia: Contracture deformity  - MedlinePlus Encyclopedia: Muscular dystrophy   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) preeclampsia ?

assistant: Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension) and can also have abnormally high levels of protein in their urine. This condition usually occurs in the last few months of pregnancy and often requires the early delivery of the infant.  Many women with mild preeclampsia do not feel ill, and the problem is first detected through blood pressure and urine testing in their doctor's office. Other early features of the disorder are swelling (edema) of the face or hands and a weight gain of more than 2 pounds within a few days. More severely affected women may experience headaches, dizziness, irritability, shortness of breath, a decrease in urination, upper abdominal pain, nausea, or vomiting. Vision changes may develop, including flashing lights or spots, increased sensitivity to light (photophobia), blurry vision, or temporary blindness.  In most cases, preeclampsia is mild and goes away within a few weeks after the baby is born. In severe cases, however, preeclampsia can impact the mother's organs such as the heart, liver, and kidneys and can lead to life-threatening complications. Extreme hypertension in the mother can cause bleeding in the brain (hemorrhagic stroke). The effects of high blood pressure on the brain (hypertensive encephalopathy) may also result in seizures. If seizures occur, the condition is considered to have progressed to eclampsia, which can result in coma. Without treatment to help prevent seizures, about 1 in 200 women with preeclampsia develop eclampsia.  Between 10 and 20 percent of women with severe preeclampsia develop another potentially life-threatening complication called HELLP syndrome. HELLP stands for hemolysis (premature red blood cell breakdown), elevated liver enzyme levels, and low platelets (cell fragments involved in blood clotting), which are the key features of this condition.  Severe preeclampsia can also affect the fetus, with impairment of blood and oxygen flow leading to growth problems or stillbirth. Infants delivered early due to preeclampsia may have complications associated with prematurity, such as breathing problems caused by underdeveloped lungs.  Women who have had preeclampsia have approximately twice the lifetime risk of heart disease and stroke than do women in the general population. Researchers suggest this may be due to common factors that increase the risk of preeclampsia, heart disease, and stroke.
user: How many people are affected by preeclampsia ?

assistant: Preeclampsia is a common condition in all populations, occurring in 2 to 8 percent of pregnancies. It occurs more frequently in women of African or Hispanic descent than it does in women of European descent.
user: What are the genetic changes related to preeclampsia ?

assistant: The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressure and urine production in the kidneys that occur in preeclampsia.  The reasons for these abnormal reactions to the changes of pregnancy vary in different women and may differ depending on the stage of the pregnancy at which the condition develops. Studies suggest that preeclampsia is related to a problem with the placenta, the link between the mother's blood supply and the fetus. If there is an insufficient connection between the placenta and the arteries of the uterus, the placenta does not get enough blood. It responds by releasing a variety of substances, including molecules that affect the lining of blood vessels (the vascular endothelium). By mechanisms that are unclear, the reaction of the vascular endothelium appears to increase factors that cause the blood vessels to narrow (constrict), and decrease factors that would cause them to widen (dilate). As a result, the blood vessels constrict abnormally, causing hypertension. These blood vessel abnormalities also affect the kidneys, causing some proteins that are normally absorbed into the blood to be released in the urine instead.  Researchers are studying whether variations in genes involved in fluid balance, the functioning of the vascular endothelium, or placental development affect the risk of developing preeclampsia. Many other factors likely also contribute to the risk of developing this complex disorder. These risk factors include a first pregnancy; a pregnancy with twins or higher multiples; obesity; being older than 35 or younger than 20; a history of diabetes, hypertension, or kidney disease; and preeclampsia in a previous pregnancy. Socioeconomic status and ethnicity have also been associated with preeclampsia risk. The incidence of preeclampsia in the United States has increased by 30 percent in recent years, which has been attributed in part to an increase in older mothers and multiple births resulting from the use of assisted reproductive technologies.
user: Is preeclampsia inherited ?

assistant: Most cases of preeclampsia do not seem to be inherited. The tendency to develop preeclampsia does seem to run in some families; however, the inheritance pattern is unknown.
user: What are the treatments for preeclampsia ?

assistant: These resources address the diagnosis or management of preeclampsia:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Preeclampsia, Eclampsia, and HELLP syndrome?  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are the Treatments for Preeclampsia, Eclampsia, and HELLP Syndrome?  - Genetic Testing Registry: Preeclampsia/eclampsia 1  - Genetic Testing Registry: Preeclampsia/eclampsia 2  - Genetic Testing Registry: Preeclampsia/eclampsia 3  - Genetic Testing Registry: Preeclampsia/eclampsia 4  - Genetic Testing Registry: Preeclampsia/eclampsia 5  - MedlinePlus Encyclopedia: Preeclampsia Self-care   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) phosphoglycerate mutase deficiency ?

assistant: Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.  In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.
user: How many people are affected by phosphoglycerate mutase deficiency ?

assistant: Phosphoglycerate mutase deficiency is a rare condition; about 15 affected people have been reported in the medical literature. Most affected individuals have been African American.
user: What are the genetic changes related to phosphoglycerate mutase deficiency ?

assistant: Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.  The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals.
user: Is phosphoglycerate mutase deficiency inherited ?

assistant: This condition is inherited in an autosomal recessive pattern, which means both copies of the PGAM2 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. However, people who carry one altered copy of the PGAM2 gene may have some features of phosphoglycerate mutase deficiency, including episodes of exercise-induced muscle cramping and myoglobinuria.
user: What are the treatments for phosphoglycerate mutase deficiency ?

assistant: These resources address the diagnosis or management of phosphoglycerate mutase deficiency:  - Genetic Testing Registry: Glycogen storage disease type X   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) hypomyelination and congenital cataract ?

assistant: Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes.  People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability.
user: How many people are affected by hypomyelination and congenital cataract ?

assistant: The prevalence of hypomyelination and congenital cataract is unknown.
user: What are the genetic changes related to hypomyelination and congenital cataract ?

assistant: Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. Hyccin is also active in the lens of the eye, the heart, and the kidneys. It is unclear how mutations in the FAM126A gene cause cataracts.  Most FAM126A gene mutations that cause hypomyelination and congenital cataract prevent the production of hyccin. People who cannot produce any hyccin have problems forming myelin, leading to the signs and symptoms of this condition.  People who have mutations that allow some protein production tend to have milder symptoms than those who produce no protein. These individuals typically retain the ability to walk longer, although they still need support, and they usually do not have peripheral neuropathy.
user: Is hypomyelination and congenital cataract 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 hypomyelination and congenital cataract ?

assistant: These resources address the diagnosis or management of hypomyelination and congenital cataract:  - Gene Review: Gene Review: Hypomyelination and Congenital Cataract  - Genetic Testing Registry: Hypomyelination and Congenital Cataract  - MedlinePlus Encyclopedia: Congenital Cataract  - MedlinePlus Encyclopedia: Muscle Atrophy   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) familial acute myeloid leukemia with mutated CEBPA ?

assistant: Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.  People with familial acute myeloid leukemia with mutated CEBPA have a shortage of white blood cells (leukopenia), leading to increased susceptibility to infections. A low number of red blood cells (anemia) also occurs in this disorder, resulting in fatigue and weakness. Affected individuals also have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. Other symptoms of familial acute myeloid leukemia with mutated CEBPA may include fever and weight loss.  While acute myeloid leukemia is generally a disease of older adults, familial acute myeloid leukemia with mutated CEBPA often begins earlier in life, and it has been reported to occur as early as age 4. Between 50 and 65 percent of affected individuals survive their disease, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia. However, people with familial acute myeloid leukemia with mutated CEBPA have a higher risk of having a new primary occurrence of this disorder after successful treatment of the initial occurrence.
user: How many people are affected by familial acute myeloid leukemia with mutated CEBPA ?

assistant: Acute myeloid leukemia occurs in approximately 3.5 in 100,000 individuals per year. Familial acute myeloid leukemia with mutated CEBPA is a very rare form of acute myeloid leukemia; only a few affected families have been identified.