Druvith/medqa1 huggingface dataset:
Question:  What is (are) cone-rod dystrophy ?
Answer: Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.  The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).  There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, or X-linked (each of which is described below). Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.
Question:  How many people are affected by cone-rod dystrophy ?
Answer: Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals.
Question:  What are the genetic changes related to cone-rod dystrophy ?
Answer: Mutations in approximately 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. At least 10 genes have been associated with cone-rod dystrophy that is inherited in an autosomal dominant pattern. Mutations in the GUCY2D and CRX genes account for about half of these cases. Changes in at least two genes cause the X-linked form of the disorder, which is rare.  The genes associated with cone-rod dystrophy play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina. The retina contains two types of photoreceptors, rods and cones. Rods are needed for vision in low light, while cones provide vision in bright light, including color vision.  Mutations in any of the genes associated with cone-rod dystrophy lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with cone-rod dystrophy. Cones typically break down before rods, which is why sensitivity to light and impaired color vision are usually the first signs of the disorder. (The order of cell breakdown is also reflected in the condition name.) Night vision is disrupted later, as rods are lost.  Some of the genes associated with cone-rod dystrophy are also associated with other eye diseases, including a group of related eye disorders called rod-cone dystrophy. Rod-cone dystrophy has signs and symptoms similar to those of cone-rod dystrophy. However, rod-cone dystrophy is characterized by deterioration of the rods first, followed by the cones, so night vision is affected before daylight and color vision. The most common form of rod-cone dystrophy is a condition called retinitis pigmentosa.
Question:  Is cone-rod dystrophy inherited ?
Answer: Cone-rod dystrophy is usually 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.  Less frequently, 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 most of these cases, an affected person has one parent with the condition.  Rarely, cone-rod dystrophy is inherited in an X-linked recessive pattern. The genes associated with this form of the condition are 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. Females with one copy of the altered gene have mild vision problems, such as decreased visual acuity. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question:  What are the treatments for cone-rod dystrophy ?
Answer: These resources address the diagnosis or management of cone-rod dystrophy:  - Cleveland Clinic: Eye Examinations: What to Expect  - Genetic Testing Registry: CONE-ROD DYSTROPHY, AIPL1-RELATED  - Genetic Testing Registry: Cone-rod dystrophy  - Genetic Testing Registry: Cone-rod dystrophy 1  - Genetic Testing Registry: Cone-rod dystrophy 10  - Genetic Testing Registry: Cone-rod dystrophy 11  - Genetic Testing Registry: Cone-rod dystrophy 12  - Genetic Testing Registry: Cone-rod dystrophy 13  - Genetic Testing Registry: Cone-rod dystrophy 15  - Genetic Testing Registry: Cone-rod dystrophy 16  - Genetic Testing Registry: Cone-rod dystrophy 17  - Genetic Testing Registry: Cone-rod dystrophy 18  - Genetic Testing Registry: Cone-rod dystrophy 19  - Genetic Testing Registry: Cone-rod dystrophy 2  - Genetic Testing Registry: Cone-rod dystrophy 20  - Genetic Testing Registry: Cone-rod dystrophy 21  - Genetic Testing Registry: Cone-rod dystrophy 3  - Genetic Testing Registry: Cone-rod dystrophy 5  - Genetic Testing Registry: Cone-rod dystrophy 6  - Genetic Testing Registry: Cone-rod dystrophy 7  - Genetic Testing Registry: Cone-rod dystrophy 8  - Genetic Testing Registry: Cone-rod dystrophy 9  - Genetic Testing Registry: Cone-rod dystrophy X-linked 3  - Genetic Testing Registry: Cone-rod dystrophy, X-linked 1  - MedlinePlus Encyclopedia: Color Vision Test  - MedlinePlus Encyclopedia: Visual Acuity Test  - MedlinePlus Encyclopedia: Visual Field Test   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
Question:  What is (are) multiple endocrine neoplasia ?
Answer: Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.  The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.  Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.  The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.  Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.
Question:  How many people are affected by multiple endocrine neoplasia ?
Answer: Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, although the condition appears to be rare.
Question:  What are the genetic changes related to multiple endocrine neoplasia ?
Answer: Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia.  Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although the exact function of menin is unknown, it is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. When mutations inactivate both copies of the MEN1 gene, menin is no longer available to control cell growth and division. The loss of functional menin allows cells to divide too frequently, leading to the formation of tumors characteristic of multiple endocrine neoplasia type 1. It is unclear why these tumors preferentially affect endocrine tissues.  Mutations in the RET gene cause multiple endocrine neoplasia type 2. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein's signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues.  Mutations in the CDKN1B gene cause multiple endocrine neoplasia type 4. This gene provides instructions for making a protein called p27. Like the menin protein, p27 is a tumor suppressor that helps control the growth and division of cells. Mutations in the CDKN1B gene reduce the amount of functional p27, which allows cells to grow and divide unchecked. This unregulated cell division can lead to the development of tumors in endocrine glands and other tissues.
Question:  Is multiple endocrine neoplasia inherited ?
Answer: Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mutations in the MEN1 gene, and occur in people with no history of the disorder in their family.  Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the MEN1 gene must be altered to trigger tumor formation in multiple endocrine neoplasia type 1. A mutation in the second copy of the MEN1 gene occurs in a small number of cells during a person's lifetime. Almost everyone who is born with one MEN1 mutation acquires a second mutation in certain cells, which can then divide in an unregulated way to form tumors.  Multiple endocrine neoplasia type 2 and type 4 are also inherited in an autosomal dominant pattern. In these cases, one copy of the mutated gene is sufficient to cause the disorder. Affected individuals often inherit an altered RET or CDKN1B gene from one parent with the condition. Some cases, however, result from new mutations in the gene and occur in people without other affected family members.
Question:  What are the treatments for multiple endocrine neoplasia ?
Answer: These resources address the diagnosis or management of multiple endocrine neoplasia:  - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1  - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2  - Genetic Testing Registry: Familial medullary thyroid carcinoma  - Genetic Testing Registry: Multiple endocrine neoplasia, type 1  - Genetic Testing Registry: Multiple endocrine neoplasia, type 2a  - Genetic Testing Registry: Multiple endocrine neoplasia, type 2b  - Genetic Testing Registry: Multiple endocrine neoplasia, type 4  - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 1  - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 2A  - MedlinePlus Encyclopedia: Hyperparathyroidism  - MedlinePlus Encyclopedia: Medullary Carcinoma of Thyroid  - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) I  - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) II  - MedlinePlus Encyclopedia: Pancreatic Islet Cell Tumor  - MedlinePlus Encyclopedia: Pheochromocytoma  - MedlinePlus Encyclopedia: Pituitary Tumor  - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes  - New York Thyroid Center: Medullary Thyroid Cancer   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
Question:  What is (are) isovaleric acidemia ?
Answer: Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.  Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine.  Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.  In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.  Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.
Question:  How many people are affected by isovaleric acidemia ?
Answer: Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in the United States.
Question:  What are the genetic changes related to isovaleric acidemia ?
Answer: Mutations in the IVD gene cause isovaleric acidemia.  The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.
Question:  Is isovaleric acidemia inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question:  What are the treatments for isovaleric acidemia ?
Answer: These resources address the diagnosis or management of isovaleric acidemia:  - Baby's First Test  - Genetic Testing Registry: Isovaleryl-CoA dehydrogenase 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
Question:  What is (are) activated PI3K-delta syndrome ?
Answer: Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, commonly Epstein-Barr virus or cytomegalovirus infections.  Another possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. These clumps can lead to enlarged lymph nodes (lymphadenopathy), or the white blood cells can build up to form solid masses (nodular lymphoid hyperplasia), usually in the moist lining of the airways or intestines. While lymphadenopathy and nodular lymphoid hyperplasia are noncancerous (benign), activated PI3K-delta syndrome also increases the risk of developing a form of cancer called B-cell lymphoma.
Question:  How many people are affected by activated PI3K-delta syndrome ?
Answer: The prevalence of activated PI3K-delta syndrome is unknown.
Question:  What are the genetic changes related to activated PI3K-delta syndrome ?
Answer: Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. The version of PI3K containing the p110 subunit, called PI3K-delta, is specifically found in white blood cells, including B cells and T cells. PI3K-delta signaling is involved in the growth and division (proliferation) of white blood cells, and it helps direct B cells and T cells to mature (differentiate) into different types, each of which has a distinct function in the immune system.  PIK3CD gene mutations involved in activated PI3K-delta syndrome lead to production of an altered p110 protein. A PI3K-delta enzyme containing the altered subunit is abnormally turned on (activated). Studies indicate that overactive PI3K-delta signaling alters the differentiation of B cells and T cells, leading to production of cells that cannot respond to infections and that die earlier than usual. Lack of functioning B cells and T cells makes it difficult for people with this disorder to fight off bacterial and viral infections. Overactivation of PI3K-delta signaling can also stimulate abnormal proliferation of white blood cells, leading to lymphadenopathy and nodular lymphoid hyperplasia in some affected individuals. An increase in B cell proliferation in combination with reduced immune system function may contribute to development of B-cell lymphoma.
Question:  Is activated PI3K-delta syndrome inherited ?
Answer: 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.
Question:  What are the treatments for activated PI3K-delta syndrome ?
Answer: These resources address the diagnosis or management of activated PI3K-delta syndrome:  - Genetic Testing Registry: Activated PI3K-delta syndrome  - National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking To Your Doctor   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