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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... | fibrochondrogenesis |
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. | fibrochondrogenesis |
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... | fibrochondrogenesis |
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 ... | fibrochondrogenesis |
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... | fibrochondrogenesis |
What is (are) hereditary sensory neuropathy type IA ? | Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individua... | hereditary sensory neuropathy type IA |
How many people are affected by hereditary sensory neuropathy type IA ? | Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2 per 100,000 individuals. | hereditary sensory neuropathy type IA |
What are the genetic changes related to hereditary sensory neuropathy type IA ? | Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell memb... | hereditary sensory neuropathy type IA |
Is hereditary sensory neuropathy type IA 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. | hereditary sensory neuropathy type IA |
What are the treatments for hereditary sensory neuropathy type IA ? | These resources address the diagnosis or management of hereditary sensory neuropathy type IA: - Gene Review: Gene Review: Hereditary Sensory Neuropathy Type IA - Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1 - Rare Diseases Clinical Research Network: Inherited Neuropathies Consortium ... | hereditary sensory neuropathy type IA |
What is (are) von Willebrand disease ? | Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand... | von Willebrand disease |
How many people are affected by von Willebrand disease ? | Von Willebrand disease is estimated to affect 1 in 100 to 10,000 individuals. Because people with mild signs and symptoms may not come to medical attention, it is thought that this condition is underdiagnosed. Most researchers agree that von Willebrand disease is the most common genetic bleeding disorder. | von Willebrand disease |
What are the genetic changes related to von Willebrand disease ? | Mutations in the VWF gene cause von Willebrand disease. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is essential for the formation of blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss... | von Willebrand disease |
Is von Willebrand disease inherited ? | Von Willebrand disease can have different inheritance patterns. Most cases of type 1 and type 2 von Willebrand disease are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Type 3, some cases of type 2, and a small number of type 1 c... | von Willebrand disease |
What are the treatments for von Willebrand disease ? | These resources address the diagnosis or management of von Willebrand disease: - Gene Review: Gene Review: von Willebrand Disease - Genetic Testing Registry: von Willebrand disorder - MedlinePlus Encyclopedia: von Willebrand Disease These resources from MedlinePlus offer information about the diagnosis and managem... | von Willebrand disease |
What is (are) Schinzel-Giedion syndrome ? | Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive p... | Schinzel-Giedion syndrome |
How many people are affected by Schinzel-Giedion syndrome ? | Schinzel-Giedion syndrome is very rare, although the exact prevalence is unknown. | Schinzel-Giedion syndrome |
What are the genetic changes related to Schinzel-Giedion syndrome ? | Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are... | Schinzel-Giedion syndrome |
Is Schinzel-Giedion syndrome inherited ? | Schinzel-Giedion syndrome results from new mutations in the SETBP1 gene and occurs in people with no history of the disorder in their family. One copy of the altered gene in each cell is sufficient to cause the disorder. | Schinzel-Giedion syndrome |
What are the treatments for Schinzel-Giedion syndrome ? | These resources address the diagnosis or management of Schinzel-Giedion syndrome: - Genetic Testing Registry: Schinzel-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation... | Schinzel-Giedion syndrome |
What is (are) capillary malformation-arteriovenous malformation syndrome ? | Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back t... | capillary malformation-arteriovenous malformation syndrome |
How many people are affected by capillary malformation-arteriovenous malformation syndrome ? | CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown. | capillary malformation-arteriovenous malformation syndrome |
What are the genetic changes related to capillary malformation-arteriovenous malformation syndrome ? | CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferat... | capillary malformation-arteriovenous malformation syndrome |
Is capillary malformation-arteriovenous malformation 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. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | capillary malformation-arteriovenous malformation syndrome |
What are the treatments for capillary malformation-arteriovenous malformation syndrome ? | These resources address the diagnosis or management of CM-AVM: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Capillary malformation-arteriovenous malformation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | capillary malformation-arteriovenous malformation syndrome |
What is (are) familial dysautonomia ? | Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It a... | familial dysautonomia |
How many people are affected by familial dysautonomia ? | Familial dysautonomia occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. It affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the general population. | familial dysautonomia |
What are the genetic changes related to familial dysautonomia ? | Mutations in the IKBKAP gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies o... | familial dysautonomia |
Is familial dysautonomia 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. | familial dysautonomia |
What are the treatments for familial dysautonomia ? | These resources address the diagnosis or management of familial dysautonomia: - Gene Review: Gene Review: Familial Dysautonomia - Genetic Testing Registry: Familial dysautonomia - MedlinePlus Encyclopedia: Riley-Day Syndrome These resources from MedlinePlus offer information about the diagnosis and management of v... | familial dysautonomia |
What is (are) Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, an... | Brooke-Spiegler syndrome |
How many people are affected by Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown. | Brooke-Spiegler syndrome |
What are the genetic changes related to Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating... | Brooke-Spiegler syndrome |
Is Brooke-Spiegler syndrome inherited ? | Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. | Brooke-Spiegler syndrome |
What are the treatments for Brooke-Spiegler syndrome ? | These resources address the diagnosis or management of Brooke-Spiegler syndrome: - Genetic Testing Registry: Spiegler-Brooke syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... | Brooke-Spiegler syndrome |
What is (are) Feingold syndrome ? | Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition hav... | Feingold syndrome |
How many people are affected by Feingold syndrome ? | Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown. | Feingold syndrome |
What are the genetic changes related to Feingold syndrome ? | Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervou... | Feingold syndrome |
Is Feingold 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. | Feingold syndrome |
What are the treatments for Feingold syndrome ? | These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodenal Atresia - MedlinePlus Encyclopedia: Esophageal Atresia - Me... | Feingold syndrome |
What is (are) neuroblastoma ? | Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... | neuroblastoma |
How many people are affected by neuroblastoma ? | Neuroblastoma is the most common cancer in infants younger than 1 year. It occurs in 1 in 100,000 children and is diagnosed in about 650 children each year in the United States. | neuroblastoma |
What are the genetic changes related to neuroblastoma ? | Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genesthose that control cell growth and division (proliferation) or maturation (differentiation)allow cells to grow and divide uncontrollably to form a tumor. In most cases, these genetic changes are acquired during a person's lifetim... | neuroblastoma |
Is neuroblastoma inherited ? | Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one c... | neuroblastoma |
What are the treatments for neuroblastoma ? | These resources address the diagnosis or management of neuroblastoma: - American Cancer Society: Diagnosis of Neuroblastoma - Gene Review: Gene Review: ALK-Related Neuroblastic Tumor Susceptibility - Genetic Testing Registry: Neuroblastoma - Genetic Testing Registry: Neuroblastoma 2 - Genetic Testing Registry: Neu... | neuroblastoma |
What is (are) benign chronic pemphigus ? | Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can be... | benign chronic pemphigus |
How many people are affected by benign chronic pemphigus ? | Benign chronic pemphigus is a rare condition; its prevalence is unknown. | benign chronic pemphigus |
What are the genetic changes related to benign chronic pemphigus ? | Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell gr... | benign chronic pemphigus |
Is benign chronic pemphigus 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. | benign chronic pemphigus |
What are the treatments for benign chronic pemphigus ? | These resources address the diagnosis or management of benign chronic pemphigus: - American Osteopathic College of Dermatology - Genetic Testing Registry: Familial benign pemphigus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | benign chronic pemphigus |
What is (are) Fuchs endothelial dystrophy ? | Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become ... | Fuchs endothelial dystrophy |
How many people are affected by Fuchs endothelial dystrophy ? | The late-onset form of Fuchs endothelial dystrophy is a common condition, affecting approximately 4 percent of people over the age of 40. The early-onset variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is unknown. For reasons that are unclear, women are affected with Fuchs endothelial dys... | Fuchs endothelial dystrophy |
What are the genetic changes related to Fuchs endothelial dystrophy ? | The genetics of Fuchs endothelial dystrophy are unclear. Researchers have identified regions of a few chromosomes and several genes that they think may play a role in the development of Fuchs endothelial dystrophy, but many of these associations need to be further tested. Fuchs endothelial dystrophy affects a thin lay... | Fuchs endothelial dystrophy |
Is Fuchs endothelial dystrophy inherited ? | In some cases, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, a... | Fuchs endothelial dystrophy |
What are the treatments for Fuchs endothelial dystrophy ? | These resources address the diagnosis or management of Fuchs endothelial dystrophy: - Duke Eye Center: Corneal Disease - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial 1 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 2 - Genetic Testing Registry: Corneal dystrophy, Fuchs endotheli... | Fuchs endothelial dystrophy |
What is (are) autosomal recessive cerebellar ataxia type 1 ? | Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this ... | autosomal recessive cerebellar ataxia type 1 |
How many people are affected by autosomal recessive cerebellar ataxia type 1 ? | More than 100 people have been diagnosed with ARCA1. This condition was first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of Quebec, Canada, but it has since been found in populations worldwide. | autosomal recessive cerebellar ataxia type 1 |
What are the genetic changes related to autosomal recessive cerebellar ataxia type 1 ? | Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the ... | autosomal recessive cerebellar ataxia type 1 |
Is autosomal recessive cerebellar ataxia type 1 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. | autosomal recessive cerebellar ataxia type 1 |
What are the treatments for autosomal recessive cerebellar ataxia type 1 ? | These resources address the diagnosis or management of ARCA1: - Gene Review: Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia - Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8 - Johns Hopkins Medicine Department of Neurology and Neurosurgery: What is Ataxia? - MedlinePlus Enc... | autosomal recessive cerebellar ataxia type 1 |
What is (are) dopamine beta-hydroxylase deficiency ? | Dopamine beta ()-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of v... | dopamine beta-hydroxylase deficiency |
How many people are affected by dopamine beta-hydroxylase deficiency ? | Dopamine -hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature. | dopamine beta-hydroxylase deficiency |
What are the genetic changes related to dopamine beta-hydroxylase deficiency ? | Mutations in the DBH gene cause dopamine -hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine -hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. DBH gene mutations r... | dopamine beta-hydroxylase deficiency |
Is dopamine beta-hydroxylase 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. | dopamine beta-hydroxylase deficiency |
What are the treatments for dopamine beta-hydroxylase deficiency ? | These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency: - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency - Genetic Testing Registry: Dopamine beta hydroxylase deficiency - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information... | dopamine beta-hydroxylase deficiency |
What is (are) congenital hepatic fibrosis ? | Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various molecules needed by the body and breaking down other molecules so that their components can be used or eliminated. Congenital hepatic fibrosis is characterized by malfor... | congenital hepatic fibrosis |
How many people are affected by congenital hepatic fibrosis ? | Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals. | congenital hepatic fibrosis |
What are the genetic changes related to congenital hepatic fibrosis ? | Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include mal... | congenital hepatic fibrosis |
Is congenital hepatic fibrosis inherited ? | The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal reces... | congenital hepatic fibrosis |
What are the treatments for congenital hepatic fibrosis ? | These resources address the diagnosis or management of congenital hepatic fibrosis: - Gene Review: Gene Review: Congenital Hepatic Fibrosis Overview - Genetic Testing Registry: Congenital hepatic fibrosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditi... | congenital hepatic fibrosis |
What is (are) Dandy-Walker malformation ? | Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The centra... | Dandy-Walker malformation |
How many people are affected by Dandy-Walker malformation ? | Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns. | Dandy-Walker malformation |
What are the genetic changes related to Dandy-Walker malformation ? | Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is ... | Dandy-Walker malformation |
Is Dandy-Walker malformation inherited ? | Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely ... | Dandy-Walker malformation |
What are the treatments for Dandy-Walker malformation ? | These resources address the diagnosis or management of Dandy-Walker malformation: - Genetic Testing Registry: Dandy-Walker syndrome - National Hydrocephalus Foundation: Treatment of Hydrocephalus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D... | Dandy-Walker malformation |
What is (are) familial hyperaldosteronism ? | Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt t... | familial hyperaldosteronism |
How many people are affected by familial hyperaldosteronism ? | The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism. | familial hyperaldosteronism |
What are the genetic changes related to familial hyperaldosteronism ? | The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzyme... | familial hyperaldosteronism |
Is familial hyperaldosteronism 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. | familial hyperaldosteronism |
What are the treatments for familial hyperaldosteronism ? | These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism - International Registry for Gluco... | familial hyperaldosteronism |
What is (are) Pfeiffer syndrome ? | Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Many of the characteristic facial f... | Pfeiffer syndrome |
How many people are affected by Pfeiffer syndrome ? | Pfeiffer syndrome affects about 1 in 100,000 individuals. | Pfeiffer syndrome |
What are the genetic changes related to Pfeiffer syndrome ? | Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 o... | Pfeiffer syndrome |
Is Pfeiffer 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. | Pfeiffer syndrome |
What are the treatments for Pfeiffer syndrome ? | These resources address the diagnosis or management of Pfeiffer syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Pfeiffer syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Webbing of fingers or toes These resources from Medli... | Pfeiffer syndrome |
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... | 3MC syndrome |
How many people are affected by 3MC syndrome ? | 3MC syndrome is a rare disorder; its exact prevalence is unknown. | 3MC syndrome |
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... | 3MC syndrome |
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. | 3MC syndrome |
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... | 3MC syndrome |
What is (are) methylmalonic acidemia with homocystinuria ? | Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, ... | methylmalonic acidemia with homocystinuria |
How many people are affected by methylmalonic acidemia with homocystinuria ? | The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations. These studies estimate the condition occurs in 1 in 100,000 peo... | methylmalonic acidemia with homocystinuria |
What are the genetic changes related to methylmalonic acidemia with homocystinuria ? | Methylmalonic acidemia with homocystinuria can be caused by mutations in one of several genes: MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1. Mutations in these genes account for the different types of the disorder, which are known as complementation groups: cblC, cblD, cblF, cblJ, and cblX, respectively. Each of the above-... | methylmalonic acidemia with homocystinuria |
Is methylmalonic acidemia with homocystinuria inherited ? | Methylmalonic acidemia with homocystinuria 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 symptom... | methylmalonic acidemia with homocystinuria |
What are the treatments for methylmalonic acidemia with homocystinuria ? | These resources address the diagnosis or management of methylmalonic acidemia with homocystinuria: - Baby's First Test: Methylmalonic Acidemia with Homocystinuria - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TY... | methylmalonic acidemia with homocystinuria |
What is (are) benign essential blepharospasm ? | Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign... | benign essential blepharospasm |
How many people are affected by benign essential blepharospasm ? | Benign essential blepharospasm affects an estimated 20,000 to 50,000 people in the United States. For unknown reasons, it occurs in women more than twice as often as it occurs in men. | benign essential blepharospasm |
What are the genetic changes related to benign essential blepharospasm ? | The causes of benign essential blepharospasm are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the signs and symptoms in people who are at... | benign essential blepharospasm |
Is benign essential blepharospasm inherited ? | Most cases of benign essential blepharospasm are sporadic, which means that the condition occurs in people with no history of this disorder or other forms of dystonia in their family. Less commonly, benign essential blepharospasm has been found to run in families. In some of these families, the condition appears to ha... | benign essential blepharospasm |
What are the treatments for benign essential blepharospasm ? | These resources address the diagnosis or management of benign essential blepharospasm: - Benign Essential Blepharospasm Research Foundation: Botulinum Toxin for Treatment of Blepharospasm - Dystonia Medical Research Foundation: Treatments for dystonia - Genetic Testing Registry: Blepharospasm - MedlinePlus Encyclop... | benign essential blepharospasm |
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