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501 | What is (are) glucose-6-phosphate dehydrogenase deficiency ? | Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood ce... | growth_hormone_receptor | hemolytic anemia |
502 | How many people are affected by glucose-6-phosphate dehydrogenase deficiency ? | An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. This condition occurs most frequently in certain parts of Africa, Asia, and the Mediterranean. It affects about 1 in 10 African American males in the United States. | growth_hormone_receptor | 400 million |
503 | What are the genetic changes related to glucose-6-phosphate dehydrogenase deficiency ? | Mutations in the G6PD gene cause glucose-6-phosphate dehydrogenase deficiency. The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is involved in the normal processing of carbohydrates. It also protects red blood cells from the effects of potentially harmful m... | growth_hormone_receptor | Mutations in the G6PD gene |
504 | Is glucose-6-phosphate dehydrogenase deficiency 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 |
505 | What are the treatments for glucose-6-phosphate dehydrogenase deficiency ? | These resources address the diagnosis or management of glucose-6-phosphate dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Glucose 6 phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate d... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
506 | What is (are) Gilbert syndrome ? | Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergo... | growth_hormone_receptor | a relatively mild condition |
507 | How many people are affected by Gilbert syndrome ? | Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans. | growth_hormone_receptor | 3 to 7 percent |
508 | What are the genetic changes related to Gilbert syndrome ? | Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme performs a chemic... | growth_hormone_receptor | hyperbilirubinemia |
509 | Is Gilbert syndrome inherited ? | Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. The parents of an individual with an autosomal ... | growth_hormone_receptor | different inheritance patterns |
510 | What are the treatments for Gilbert syndrome ? | These resources address the diagnosis or management of Gilbert syndrome: - Genetic Testing Registry: Gilbert's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun... | growth_hormone_receptor | Genetic Testing Registry |
511 | What is (are) familial Mediterranean fever ? | Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the memb... | growth_hormone_receptor | an inherited condition |
512 | How many people are affected by familial Mediterranean fever ? | Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations. | growth_hormone_receptor | 1 in 200 to 1,000 |
513 | What are the genetic changes related to familial Mediterranean fever ? | Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when ... | growth_hormone_receptor | Normal variations in the SAA1 gene |
514 | Is familial Mediterranean fever inherited ? | Familial Mediterranean fever is almost always inherited in an autosomal recessive pattern, which means both copies of the MEFV 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 o... | growth_hormone_receptor | almost always inherited in an autosomal recessive pattern |
515 | What are the treatments for familial Mediterranean fever ? | These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
516 | What is (are) familial glucocorticoid deficiency ? | Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in mainta... | growth_hormone_receptor | a condition that occurs when the adrenal glands |
517 | How many people are affected by familial glucocorticoid deficiency ? | The prevalence of familial glucocorticoid deficiency is unknown. | growth_hormone_receptor | unknown |
518 | What are the genetic changes related to familial glucocorticoid deficiency ? | Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition. The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor, whi... | growth_hormone_receptor | MC2R, MRAP, and NNT genes |
519 | Is familial glucocorticoid 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 |
520 | What are the treatments for familial glucocorticoid deficiency ? | These resources address the diagnosis or management of familial glucocorticoid deficiency: - Genetic Testing Registry: ACTH resistance - Genetic Testing Registry: Glucocorticoid deficiency 2 - Genetic Testing Registry: Glucocorticoid deficiency 3 - Genetic Testing Registry: Glucocorticoid deficiency 4 - Genetic Te... | growth_hormone_receptor | ACTH resistance - Genetic Testing Registry |
521 | What is (are) X-linked juvenile retinoschisis ? | X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual ac... | growth_hormone_receptor | macular degeneration |
522 | How many people are affected by X-linked juvenile retinoschisis ? | The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide. | growth_hormone_receptor | 1 in 5,000 to 25,000 |
523 | What are the genetic changes related to X-linked juvenile retinoschisis ? | Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in... | growth_hormone_receptor | do not have a mutation in the RS1 gene |
524 | Is X-linked juvenile retinoschisis 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 |
525 | What are the treatments for X-linked juvenile retinoschisis ? | These resources address the diagnosis or management of X-linked juvenile retinoschisis: - Gene Review: Gene Review: X-Linked Juvenile Retinoschisis - Genetic Testing Registry: Juvenile retinoschisis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
526 | What is (are) Wolman disease ? | Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), an... | growth_hormone_receptor | a rare inherited condition |
527 | How many people are affected by Wolman disease ? | Wolman disease is estimated to occur in 1 in 350,000 newborns. | growth_hormone_receptor | 1 in 350,000 |
528 | What are the genetic changes related to Wolman disease ? | Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they c... | growth_hormone_receptor | malnutrition |
529 | Is Wolman disease 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 |
530 | What are the treatments for Wolman disease ? | These resources address the diagnosis or management of Wolman disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | growth_hormone_receptor | Genetic Testing Registry: Lysosomal acid lipase deficiency |
531 | What is (are) 3MC syndrome ? | 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arc... | growth_hormone_receptor | unusual facial features and problems affecting other tissues and organs of the body |
532 | How many people are affected by 3MC syndrome ? | 3MC syndrome is a rare disorder; its exact prevalence is unknown. | growth_hormone_receptor | unknown |
533 | What are the genetic changes related to 3MC syndrome ? | 3MC syndrome is caused by mutations in the COLEC11 or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of reactions called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during early development before birth to form t... | growth_hormone_receptor | no mutations in the COLEC11 or MASP1 gene |
534 | Is 3MC syndrome 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 | autosomal recessive pattern |
535 | What are the treatments for 3MC syndrome ? | These resources address the diagnosis or management of 3MC syndrome: - Genetic Testing Registry: Carnevale syndrome - Genetic Testing Registry: Craniofacial-ulnar-renal syndrome - Genetic Testing Registry: Malpuech facial clefting syndrome - Genetic Testing Registry: Michels syndrome These resources from MedlineP... | growth_hormone_receptor | Genetic Testing Registry |
536 | What is (are) Lynch syndrome ? | Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an incre... | growth_hormone_receptor | an inherited disorder that increases the risk of many types of cancer |
537 | How many people are affected by Lynch syndrome ? | In the United States, about 140,000 new cases of colorectal cancer are diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by Lynch syndrome. | growth_hormone_receptor | 3 to 5 percent |
538 | What are the genetic changes related to Lynch syndrome ? | Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). Mutations in any of these genes prevent ... | growth_hormone_receptor | PMS2, or EPCAM gene |
539 | Is Lynch syndrome inherited ? | Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these ... | growth_hormone_receptor | Lynch syndrome cancer risk is inherited in an autosomal dominant pattern |
540 | What are the treatments for Lynch syndrome ? | These resources address the diagnosis or management of Lynch syndrome: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: Lynch Syndrome - GeneFacts: Lynch Syndrome:... | growth_hormone_receptor | American Medical Association and National Coalition for Health Professional Education in Genetics |
541 | What is (are) childhood myocerebrohepatopathy spectrum ? | Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few mo... | growth_hormone_receptor | MCHS |
542 | How many people are affected by childhood myocerebrohepatopathy spectrum ? | The prevalence of childhood myocerebrohepatopathy spectrum is unknown. | growth_hormone_receptor | unknown |
543 | What are the genetic changes related to childhood myocerebrohepatopathy spectrum ? | MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria eac... | growth_hormone_receptor | single protein building blocks |
544 | Is childhood myocerebrohepatopathy spectrum 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 | autosomal recessive pattern |
545 | What are the treatments for childhood myocerebrohepatopathy spectrum ? | These resources address the diagnosis or management of MCHS: - Gene Review: Gene Review: POLG-Related Disorders - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
546 | What is (are) celiac disease ? | Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten... | growth_hormone_receptor | autoimmune disorder |
547 | How many people are affected by celiac disease ? | Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide. | growth_hormone_receptor | 1 in 100 |
548 | What are the genetic changes related to celiac disease ? | The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. Th... | growth_hormone_receptor | environmental factors and changes in other genes |
549 | Is celiac disease inherited ? | Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown. | growth_hormone_receptor | the inheritance pattern is unknown |
550 | What are the treatments for celiac disease ? | These resources address the diagnosis or management of celiac disease: - Beth Israel Deaconess: Celiac Center - Columbia University Celiac Disease Center - Gene Review: Gene Review: Celiac Disease - Genetic Testing Registry: Celiac disease - Massachusetts General Hospital Center for Celiac Research and Treatment ... | growth_hormone_receptor | diagnosis or management |
551 | What is (are) long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficul... | growth_hormone_receptor | prevents the body from converting certain fats to energy |
552 | How many people are affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower. | growth_hormone_receptor | 1 in 62,000 |
553 | What are the genetic changes related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein co... | growth_hormone_receptor | Long-chain fatty acids are found in foods such as milk and certain oils |
554 | Is long-chain 3-hydroxyacyl-CoA dehydrogenase 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 |
555 | What are the treatments for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of LCHAD deficiency: - Baby's First Test - Genetic Testing Registry: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer informati... | growth_hormone_receptor | Baby's First Test - Genetic Testing Registry |
556 | What is (are) Meesmann corneal dystrophy ? | Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign ... | growth_hormone_receptor | eye disease |
557 | How many people are affected by Meesmann corneal dystrophy ? | Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. It was first described in a large, multi-generational German family with more than 100 affected members. Since then, the condition has been reported in individuals and families worldwide. | growth_hormone_receptor | more than 100 |
558 | What are the genetic changes related to Meesmann corneal dystrophy ? | Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. Mutatio... | growth_hormone_receptor | KRT12 gene or the KRT3 gene |
559 | Is Meesmann corneal dystrophy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of an altered KRT12 or KRT3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
560 | What are the treatments for Meesmann corneal dystrophy ? | These resources address the diagnosis or management of Meesmann corneal dystrophy: - Genetic Testing Registry: Meesman's corneal dystrophy - Merck Manual Home Health Handbook: Tests for Eye Disorders: The Eye Examination These resources from MedlinePlus offer information about the diagnosis and management of variou... | growth_hormone_receptor | Genetic Testing Registry |
561 | What is (are) prostate cancer ? | Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm. Ear... | growth_hormone_receptor | a gland that surrounds the male urethra |
562 | How many people are affected by prostate cancer ? | About 1 in 7 men will be diagnosed with prostate cancer at some time during their life. In addition, studies indicate that many older men have undiagnosed prostate cancer that is non-aggressive and unlikely to cause symptoms or affect their lifespan. While most men who are diagnosed with prostate cancer do not die from... | growth_hormone_receptor | 1 in 7 |
563 | What are the genetic changes related to prostate cancer ? | Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases of prostate cancer, these genetic changes are acquired during a man's lifetim... | growth_hormone_receptor | germline mutations, are usually inherited from a parent |
564 | Is prostate cancer inherited ? | Many cases of prostate cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the prostate. When prostate cancer is related to inherited gene changes, the way that cancer risk is inherited depends on the gene involved. For example, muta... | growth_hormone_receptor | Many cases of prostate cancer are not related to inherited gene changes |
565 | What are the treatments for prostate cancer ? | These resources address the diagnosis or management of prostate cancer: - American College of Radiology: Prostate Cancer Radiation Treatment - Genetic Testing Registry: Familial prostate cancer - Genetic Testing Registry: Prostate cancer, hereditary, 2 - MedlinePlus Encyclopedia: Prostate Brachytherapy - MedlinePl... | growth_hormone_receptor | hereditary, 2 - MedlinePlus Encyclopedia |
566 | What is (are) chylomicron retention disease ? | Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necess... | growth_hormone_receptor | an inherited disorder |
567 | How many people are affected by chylomicron retention disease ? | Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide. | growth_hormone_receptor | 40 |
568 | What are the genetic changes related to chylomicron retention disease ? | Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients. SAR1B gene mutations impair the release of chylomicrons into the blo... | growth_hormone_receptor | nutritional and developmental problems |
569 | Is chylomicron retention disease 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 |
570 | What are the treatments for chylomicron retention disease ? | These resources address the diagnosis or management of chylomicron retention disease: - Genetic Testing Registry: Chylomicron retention disease - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ... | growth_hormone_receptor | Genetic Testing Registry |
571 | What is (are) primary macronodular adrenal hyperplasia ? | Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargeme... | growth_hormone_receptor | adrenal gland enlargement |
572 | How many people are affected by primary macronodular adrenal hyperplasia ? | PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing ... | growth_hormone_receptor | 1 in 26,000 |
573 | What are the genetic changes related to primary macronodular adrenal hyperplasia ? | In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutati... | growth_hormone_receptor | abnormal cell growth |
574 | Is primary macronodular adrenal hyperplasia inherited ? | People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another... | growth_hormone_receptor | The inheritance is considered autosomal dominant |
575 | What are the treatments for primary macronodular adrenal hyperplasia ? | These resources address the diagnosis or management of PMAH: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What are the Treatments for ... | growth_hormone_receptor | Acth-independent |
576 | What is (are) pachyonychia congenita ? | Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick a... | growth_hormone_receptor | hypertrophic nail dystrophy |
577 | How many people are affected by pachyonychia congenita ? | Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder. | growth_hormone_receptor | several thousand |
578 | What are the genetic changes related to pachyonychia congenita ? | Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nai... | growth_hormone_receptor | Mutations in several genes |
579 | Is pachyonychia congenita inherited ? | Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in ... | growth_hormone_receptor | Pachyonychia congenita is considered an autosomal dominant condition |
580 | What are the treatments for pachyonychia congenita ? | These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic Testing Registry: Pachyonychia congenita type 2 - Genetic Test... | growth_hormone_receptor | diagnosis or management |
581 | What is (are) abetalipoproteinemia ? | Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, peop... | growth_hormone_receptor | beta-lipoproteins |
582 | How many people are affected by abetalipoproteinemia ? | Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. | growth_hormone_receptor | 100 |
583 | What are the genetic changes related to abetalipoproteinemia ? | Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the ... | growth_hormone_receptor | Mutations in the MTTP gene |
584 | Is abetalipoproteinemia 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 |
585 | What are the treatments for abetalipoproteinemia ? | These resources address the diagnosis or management of abetalipoproteinemia: - Genetic Testing Registry: Abetalipoproteinaemia - MedlinePlus Encyclopedia: Bassen-Kornzweig syndrome - MedlinePlus Encyclopedia: Malabsorption - MedlinePlus Encyclopedia: Retinitis pigmentosa - MedlinePlus Encyclopedia: Stools - floati... | growth_hormone_receptor | diagnosis or management |
586 | What is (are) paramyotonia congenita ? | Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears... | growth_hormone_receptor | a disorder that affects muscles used for movement (skeletal muscles) |
587 | How many people are affected by paramyotonia congenita ? | Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people. | growth_hormone_receptor | fewer than 1 in 100,000 |
588 | What are the genetic changes related to paramyotonia congenita ? | Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the... | growth_hormone_receptor | Mutations in the SCN4A gene |
589 | Is paramyotonia congenita 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 many cases, an affected person has one parent with the condition. | growth_hormone_receptor | in an autosomal dominant pattern |
590 | What are the treatments for paramyotonia congenita ? | These resources address the diagnosis or management of paramyotonia congenita: - Genetic Testing Registry: Paramyotonia congenita of von Eulenburg - Periodic Paralysis International: How is Periodic Paralysis Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various... | growth_hormone_receptor | Genetic Testing Registry |
591 | What is (are) tibial muscular dystrophy ? | Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-do... | growth_hormone_receptor | a condition that affects the muscles at the front of the lower leg |
592 | How many people are affected by tibial muscular dystrophy ? | Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries. Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancest... | growth_hormone_receptor | at least 10 per 100,000 |
593 | What are the genetic changes related to tibial muscular dystrophy ? | Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called s... | growth_hormone_receptor | Mutations in the TTN gene |
594 | Is tibial muscular dystrophy 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 |
595 | What are the treatments for tibial muscular dystrophy ? | These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... | growth_hormone_receptor | Distal myopathy Markesbery-Griggs type |
596 | What is (are) osteopetrosis ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | growth_hormone_receptor | a bone disease |
597 | How many people are affected by osteopetrosis ? | Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people. Other forms of osteopetrosis are very rare. Only a few cases of intermediate autosomal osteopetrosis and OL-EDA-ID hav... | growth_hormone_receptor | 1 in 20,000 |
598 | What are the genetic changes related to osteopetrosis ? | Mutations in at least nine genes cause the various types of osteopetrosis. Mutations in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis. TCIRG1 ge... | growth_hormone_receptor | Mutations in at least nine genes |
599 | Is osteopetrosis inherited ? | Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant osteopetrosis inherit the condition from an affected ... | growth_hormone_receptor | Osteopetrosis can have several different patterns of inheritance |
600 | What are the treatments for osteopetrosis ? | These resources address the diagnosis or management of osteopetrosis: - Gene Review: Gene Review: CLCN7-Related Osteopetrosis - Genetic Testing Registry: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema - Genetic Testing Registry: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 - Genetic ... | growth_hormone_receptor | Ectodermal dysplasia, anhidrotic |
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