id int64 1 16.4k | Question stringlengths 16 191 | Context stringlengths 6 29k | Topic stringclasses 9
values | Answer stringlengths 1 179 |
|---|---|---|---|---|
401 | What is (are) ovarian cancer ? | Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases... | growth_hormone_receptor | a disease that affects women |
402 | How many people are affected by ovarian cancer ? | Ovarian cancer affects about 12 in 100,000 women per year. | growth_hormone_receptor | 12 in 100,000 |
403 | What are the genetic changes related to ovarian cancer ? | Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. Most cases of ovarian cancer are sporadic; in these cases the associated genetic changes are acquired during a person's lifetime and ... | growth_hormone_receptor | unknown |
404 | Is ovarian cancer inherited ? | Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern... | growth_hormone_receptor | Most cases of ovarian cancer are not caused by inherited genetic factors |
405 | What are the treatments for ovarian cancer ? | These resources address the diagnosis or management of ovarian cancer: - Dana-Farber Cancer Institute - Familial Ovarian Cancer Registry - Fred Hutchinson Cancer Research Center - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Genetic Testing Registry: Hereditary breast and ovarian ca... | growth_hormone_receptor | Hereditary breast and ovarian cancer syndrome |
406 | What is (are) abdominal wall defect ? | An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele a... | growth_hormone_receptor | an opening in the abdomen |
407 | How many people are affected by abdominal wall defect ? | Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do no... | growth_hormone_receptor | Approximately 2 to 6 in 10,000 |
408 | What are the genetic changes related to abdominal wall defect ? | No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development. Omphalocele occurs during an error in digestive tract development. During th... | growth_hormone_receptor | Multiple genetic and environmental factors |
409 | Is abdominal wall defect inherited ? | Most cases of abdominal wall defect are sporadic, which means they occur in people with no history of the disorder in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. When an abdominal wall defect, most often omphalocele, is a feature of a... | growth_hormone_receptor | it is inherited in the pattern of that condition. |
410 | What are the treatments for abdominal wall defect ? | These resources address the diagnosis or management of abdominal wall defect: - Cincinnati Children's Hospital: Gastroschisis - Cincinnati Children's Hospital: Omphalocele - Cleveland Clinic: Omphalocele - Genetic Testing Registry: Congenital omphalocele - Great Ormond Street Hospital for Children (UK): Gastroschi... | growth_hormone_receptor | diagnosis or management |
411 | What is (are) primary myelofibrosis ? | Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofi... | growth_hormone_receptor | buildup of scar tissue |
412 | How many people are affected by primary myelofibrosis ? | Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide. | growth_hormone_receptor | 1 in 500,000 |
413 | What are the genetic changes related to primary myelofibrosis ? | Mutations in the JAK2, MPL, CALR, and TET2 genes are associated with most cases of primary myelofibrosis. The JAK2 and MPL genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions,... | growth_hormone_receptor | mutations in the CALR gene and the TET2 gene |
414 | Is primary myelofibrosis inherited ? | This condition is generally not inherited but arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. | growth_hormone_receptor | not inherited |
415 | What are the treatments for primary myelofibrosis ? | These resources address the diagnosis or management of primary myelofibrosis: - Genetic Testing Registry: Myelofibrosis - Merck Manual Professional Version: Primary Myelofibrosis - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibrosis (PMF) These resources from MedlinePlus offer information ... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
416 | What is (are) protein C deficiency ? | Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from th... | growth_hormone_receptor | deep vein thrombosis |
417 | How many people are affected by protein C deficiency ? | Mild protein C deficiency affects approximately 1 in 500 individuals. Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns. | growth_hormone_receptor | 1 in 500 |
418 | What are the genetic changes related to protein C deficiency ? | Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. Most of the mutations that ... | growth_hormone_receptor | single protein building blocks |
419 | Is protein C deficiency inherited ? | Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency. | growth_hormone_receptor | in an autosomal dominant pattern |
420 | What are the treatments for protein C deficiency ? | These resources address the diagnosis or management of protein C deficiency: - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protei... | growth_hormone_receptor | Thrombophilia, hereditary |
421 | What is (are) citrullinemia ? | Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes. Type I citrullinemia (also known as classic citrullinemia) usually bec... | growth_hormone_receptor | an inherited disorder |
422 | How many people are affected by citrullinemia ? | Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from... | growth_hormone_receptor | 1 in 57,000 |
423 | What are the genetic changes related to citrullinemia ? | Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body.... | growth_hormone_receptor | Mutations in the ASS1 and SLC25A13 genes |
424 | Is citrullinemia inherited ? | 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
425 | What are the treatments for citrullinemia ? | These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Ge... | growth_hormone_receptor | Rehabilitation - Genetic Counseling - Palliative Care |
426 | What is (are) medullary cystic kidney disease type 1 ? | Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back in... | growth_hormone_receptor | an inherited condition that affects the kidneys |
427 | How many people are affected by medullary cystic kidney disease type 1 ? | MCKD1 is a rare disorder, although its prevalence is unknown. | growth_hormone_receptor | unknown |
428 | What are the genetic changes related to medullary cystic kidney disease type 1 ? | MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and ... | growth_hormone_receptor | unclear |
429 | Is medullary cystic kidney disease type 1 inherited ? | 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. | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
430 | What are the treatments for medullary cystic kidney disease type 1 ? | These resources address the diagnosis or management of medullary cystic kidney disease type 1: - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex These resources from MedlinePlus offer information abo... | growth_hormone_receptor | Nephronophthisis |
431 | What is (are) CAV3-related distal myopathy ? | CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and wea... | growth_hormone_receptor | a group of disorders characterized by weakness and loss of function |
432 | How many people are affected by CAV3-related distal myopathy ? | The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature. | growth_hormone_receptor | a few |
433 | What are the genetic changes related to CAV3-related distal myopathy ? | CAV3-related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component ... | growth_hormone_receptor | degeneration of muscle tissue leads to the signs and symptoms |
434 | Is CAV3-related distal myopathy inherited ? | 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 cases, an affected person has one parent with CAV3-related distal myopathy or another caveolinopathy. Rare cases result from new mutations in the gene and occu... | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
435 | What are the treatments for CAV3-related distal myopathy ? | These resources address the diagnosis or management of CAV3-related distal myopathy: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: CAV3-Related Distal Myopathy - Genetic Testing Registry: Distal myopathy, Tateyama type - MedlinePlus Encyclopedia: Electromyography - MedlinePlus Encycloped... | growth_hormone_receptor | Caveolinopathies - Genetic Testing Registry |
436 | What is (are) Loeys-Dietz syndrome ? | Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are four types of Loeys-Dietz syndrome, labelled types I through IV, which are distinguished by ... | growth_hormone_receptor | a disorder that affects the connective tissue in many parts of the body |
437 | How many people are affected by Loeys-Dietz syndrome ? | The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms. | growth_hormone_receptor | I and II |
438 | What are the genetic changes related to Loeys-Dietz syndrome ? | The four types of Loeys-Dietz syndrome are distinguished by their genetic cause: mutations in the TGFBR1 gene cause type I, mutations in the TGFBR2 gene cause type II, mutations in the SMAD3 gene cause type III, and mutations in the TGFB2 gene cause type IV. These four genes play a role in cell signaling that promotes ... | growth_hormone_receptor | mutations in the TGFBR1 gene cause type I |
439 | Is Loeys-Dietz syndrome inherited ? | Loeys-Dietz syndrome 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. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their ... | growth_hormone_receptor | autosomal dominant pattern of inheritance |
440 | What are the treatments for Loeys-Dietz syndrome ? | These resources address the diagnosis or management of Loeys-Dietz syndrome: - Gene Review: Gene Review: Loeys-Dietz Syndrome - Genetic Testing Registry: Loeys-Dietz syndrome - Genetic Testing Registry: Loeys-Dietz syndrome 1 - Genetic Testing Registry: Loeys-Dietz syndrome 2 - Genetic Testing Registry: Loeys-Diet... | growth_hormone_receptor | Rehabilitation - Genetic Counseling - Palliative Care |
441 | What is (are) lymphedema-distichiasis syndrome ? | Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swe... | growth_hormone_receptor | puffiness or swelling |
442 | How many people are affected by lymphedema-distichiasis syndrome ? | The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only. | growth_hormone_receptor | lymphedema only |
443 | What are the genetic changes related to lymphedema-distichiasis syndrome ? | Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions ... | growth_hormone_receptor | mutations in the FOXC2 gene |
444 | Is lymphedema-distichiasis syndrome inherited ? | 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. | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
445 | What are the treatments for lymphedema-distichiasis syndrome ? | These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System These resources from MedlinePlus offer information about the di... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
446 | What is (are) cherubism ? | Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance a... | growth_hormone_receptor | a disorder characterized by abnormal bone tissue in the lower part of the face |
447 | How many people are affected by cherubism ? | The incidence of cherubism is unknown. At least 250 cases have been reported worldwide. | growth_hormone_receptor | 250 |
448 | What are the genetic changes related to cherubism ? | Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical si... | growth_hormone_receptor | cyst-like growths |
449 | Is cherubism inherited ? | 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. | growth_hormone_receptor | in an autosomal dominant pattern |
450 | What are the treatments for cherubism ? | These resources address the diagnosis or management of cherubism: - Gene Review: Gene Review: Cherubism - Genetic Testing Registry: Fibrous dysplasia of jaw These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... | growth_hormone_receptor | diagnosis or management |
451 | What is (are) 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed developmen... | growth_hormone_receptor | a condition that causes progressive damage to the brain |
452 | How many people are affected by 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have each been reported to affect fewer than 150 individuals worldwide. Combined D,L-2-HGA appears to be even rarer, with only about a dozen reported cases. | growth_hormone_receptor | fewer than 150 |
453 | What are the genetic changes related to 2-hydroxyglutaric aciduria ? | The different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the D2HGDH gene; type II is caused by mutations in the IDH2 gene. L-2-HGA results from mutations in the L2HGDH gene. Combined D,L-2-HGA is caused by mutations in the SLC25A1 gene. The D2HG... | growth_hormone_receptor | mutations in several genes |
454 | Is 2-hydroxyglutaric aciduria inherited ? | D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and sy... | growth_hormone_receptor | autosomal recessive pattern of inheritance |
455 | What are the treatments for 2-hydroxyglutaric aciduria ? | These resources address the diagnosis or management of 2-hydroxyglutaric aciduria: - Genetic Testing Registry: Combined d-2- and l-2-hydroxyglutaric aciduria - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 1 - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 2 - Genetic Testing Registry: L-2-hydroxyg... | growth_hormone_receptor | Rehabilitation - Genetic Counseling - Palliative Care |
456 | What is (are) 46,XX testicular disorder of sex development ? | 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescende... | growth_hormone_receptor | a condition in which individuals with two X chromosomes in each cell |
457 | How many people are affected by 46,XX testicular disorder of sex development ? | Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular disorder. | growth_hormone_receptor | Approximately 1 in 20,000 |
458 | What are the genetic changes related to 46,XX testicular disorder of sex development ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chro... | growth_hormone_receptor | do not have the SRY gene |
459 | Is 46,XX testicular disorder of sex development inherited ? | SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass ... | growth_hormone_receptor | almost never inherited |
460 | What are the treatments for 46,XX testicular disorder of sex development ? | These resources address the diagnosis or management of 46,XX testicular disorder of sex development: - Gene Review: Gene Review: Nonsyndromic 46,XX Testicular Disorders of Sex Development - Genetic Testing Registry: 46,XX sex reversal, type 1 - Genetic Testing Registry: 46,XX testicular disorder of sex development ... | growth_hormone_receptor | type 1 - Genetic Testing Registry: 46 |
461 | What is (are) Wolfram syndrome ? | Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the br... | growth_hormone_receptor | a condition that affects many of the body's systems |
462 | How many people are affected by Wolfram syndrome ? | The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature. Only a few families from Jordan have been found to have Wolfram syndrome type 2. | growth_hormone_receptor | 1 in 500,000 |
463 | What are the genetic changes related to Wolfram syndrome ? | Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. This gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell... | growth_hormone_receptor | WFS1 or CISD2 gene |
464 | Is Wolfram syndrome inherited ? | When Wolfram syndrome is caused by mutations in the WFS1 gene, it 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 si... | growth_hormone_receptor | it is inherited in an autosomal recessive pattern |
465 | What are the treatments for Wolfram syndrome ? | These resources address the diagnosis or management of Wolfram syndrome: - Gene Review: Gene Review: WFS1-Related Disorders - Genetic Testing Registry: Diabetes mellitus AND insipidus with optic atrophy AND deafness - Genetic Testing Registry: Wolfram syndrome 2 - Johns Hopkins Medicine: Diabetes Insipidus - Medli... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
466 | What is (are) X-linked intellectual disability, Siderius type ? | X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius ty... | growth_hormone_receptor | a condition characterized by mild to moderate intellectual disability that affects only males |
467 | How many people are affected by X-linked intellectual disability, Siderius type ? | While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. Only a few affected families have been described in the scientific literature. | growth_hormone_receptor | 1 in 600 to 1,000 |
468 | What are the genetic changes related to X-linked intellectual disability, Siderius type ? | X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the ac... | growth_hormone_receptor | cleft lip and palate |
469 | Is X-linked intellectual disability, Siderius type inherited ? | 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 t... | growth_hormone_receptor | This condition is inherited in an X-linked recessive pattern |
470 | What are the treatments for X-linked intellectual disability, Siderius type ? | These resources address the diagnosis or management of X-linked intellectual disability, Siderius type: - Cincinnati Children's Hospital: Cleft Lip / Cleft Palate Bottle Feeding - Cleveland Clinic: Cleft Lip & Palate Surgery - Genetic Testing Registry: Siderius X-linked mental retardation syndrome - Nemours Childre... | growth_hormone_receptor | Cleft Lip / Cleft Palate Bottle Feeding |
471 | What is (are) familial exudative vitreoretinopathy ? | Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to t... | growth_hormone_receptor | a hereditary disorder that can cause progressive vision loss |
472 | How many people are affected by familial exudative vitreoretinopathy ? | The prevalence of familial exudative vitreoretinopathy is unknown. It appears to be rare, although affected people with normal vision may never come to medical attention. | growth_hormone_receptor | affected people with normal vision may never come to medical attention |
473 | What are the genetic changes related to familial exudative vitreoretinopathy ? | Mutations in the FZD4, LRP5, and NDP genes can cause familial exudative vitreoretinopathy. These genes provide instructions for making proteins that participate in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the proteins produced from the FZD4, LRP5, and NDP genes appear ... | growth_hormone_receptor | similar no matter which gene is altered |
474 | Is familial exudative vitreoretinopathy inherited ? | Familial exudative vitreoretinopathy has different inheritance patterns depending on the gene involved. Most commonly, the condition results from mutations in the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is suf... | growth_hormone_receptor | linked recessive pattern of inheritance |
475 | What are the treatments for familial exudative vitreoretinopathy ? | These resources address the diagnosis or management of familial exudative vitreoretinopathy: - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Exudative vitreoretinopathy 1 - Genetic Testing Registry... | growth_hormone_receptor | Autosomal Dominant - Gene Review |
476 | What is (are) giant congenital melanocytic nevus ? | Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow... | growth_hormone_receptor | abnormally dark, noncancerous skin patch |
477 | How many people are affected by giant congenital melanocytic nevus ? | Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 newborns worldwide. | growth_hormone_receptor | 1 in 20,000 |
478 | What are the genetic changes related to giant congenital melanocytic nevus ? | NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition. The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. Sign... | growth_hormone_receptor | somatic |
479 | Is giant congenital melanocytic nevus inherited ? | This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. A somatic mutation in one copy of the NRAS or BRAF gene is sufficient to cause this disorder. | growth_hormone_receptor | not inherited |
480 | What are the treatments for giant congenital melanocytic nevus ? | These resources address the diagnosis or management of giant congenital melanocytic nevus: - Cleveland Clinic: The Facts About Melanoma - Genetic Testing Registry: Giant pigmented hairy nevus - MedlinePlus Encyclopedia: Giant Congenital Nevus - Nevus Outreach: Treatment Options - Primary Care Dermatology Society ... | growth_hormone_receptor | Treatment Options - Primary Care Dermatology Society |
481 | What is (are) familial male-limited precocious puberty ? | Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, unde... | growth_hormone_receptor | a condition that causes early sexual development in males |
482 | How many people are affected by familial male-limited precocious puberty ? | Familial male-limited precocious puberty is a rare disorder; its prevalence is unknown. | growth_hormone_receptor | unknown |
483 | What are the genetic changes related to familial male-limited precocious puberty ? | Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into... | growth_hormone_receptor | no identified LHCGR gene mutation |
484 | Is familial male-limited precocious puberty inherited ? | This condition is inherited in an autosomal dominant, male-limited pattern, which means one copy of the altered LHCGR gene in each cell is sufficient to cause the disorder in males. Females with mutations associated with familial male-limited precocious puberty appear to be unaffected. In some cases, an affected male i... | growth_hormone_receptor | appear to be unaffected |
485 | What are the treatments for familial male-limited precocious puberty ? | These resources address the diagnosis or management of familial male-limited precocious puberty: - Boston Children's Hospital: Precocious Puberty - Genetic Testing Registry: Gonadotropin-independent familial sexual precocity These resources from MedlinePlus offer information about the diagnosis and management of va... | growth_hormone_receptor | Gonadotropin-independent familial sexual precocity |
486 | What is (are) fibrochondrogenesis ? | Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood. F... | growth_hormone_receptor | a very severe disorder of bone growth |
487 | How many people are affected by fibrochondrogenesis ? | Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature. | growth_hormone_receptor | 20 |
488 | What are the genetic changes related to fibrochondrogenesis ? | Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. These genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Specifically, type XI collagen is f... | growth_hormone_receptor | COL11A1 or COL11A2 gene |
489 | Is fibrochondrogenesis inherited ? | Fibrochondrogenesis is generally 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 usually do not show signs and symptoms of the condition. In ... | growth_hormone_receptor | generally inherited in an autosomal recessive pattern |
490 | What are the treatments for fibrochondrogenesis ? | These resources address the diagnosis or management of fibrochondrogenesis: - Genetic Testing Registry: Fibrochondrogenesis - Genetic Testing Registry: Fibrochondrogenesis 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dru... | growth_hormone_receptor | Genetic Testing Registry |
491 | What is (are) glucose phosphate isomerase deficiency ? | Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of... | growth_hormone_receptor | GPI |
492 | How many people are affected by glucose phosphate isomerase deficiency ? | GPI deficiency is a rare cause of hemolytic anemia; its prevalence is unknown. About 50 cases have been described in the medical literature. | growth_hormone_receptor | 50 |
493 | What are the genetic changes related to glucose phosphate isomerase deficiency ? | GPI deficiency is caused by mutations in the GPI gene, which provides instructions for making an enzyme called glucose phosphate isomerase (GPI). This enzyme has two distinct functions based on its structure. When two GPI molecules form a complex (a homodimer), the enzyme plays a role in a critical energy-producing pro... | growth_hormone_receptor | hemolytic anemia and neurological problems |
494 | Is glucose phosphate isomerase deficiency inherited ? | 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
495 | What are the treatments for glucose phosphate isomerase deficiency ? | These resources address the diagnosis or management of GPI deficiency: - Genetic Testing Registry: Glucosephosphate isomerase deficiency - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Dia... | growth_hormone_receptor | National Heart, Lung, and Blood Institute |
496 | What is (are) fibrodysplasia ossificans progressiva ? | Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in ea... | growth_hormone_receptor | a disorder |
497 | How many people are affected by fibrodysplasia ossificans progressiva ? | Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported. | growth_hormone_receptor | 1 in 2 million |
498 | What are the genetic changes related to fibrodysplasia ossificans progressiva ? | Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to ... | growth_hormone_receptor | signs and symptoms |
499 | Is fibrodysplasia ossificans progressiva inherited ? | 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. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family... | growth_hormone_receptor | new mutations in the gene |
500 | What are the treatments for fibrodysplasia ossificans progressiva ? | These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery ... | growth_hormone_receptor | Genetic Testing Registry: Progressive myositis ossificans |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.