qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to tuberous sclerosis complex ? | Mutations in the TSC1 or TSC2 gene can cause tuberous sclerosis complex. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely work together to help regulate cell growth and size. The proteins act as tumor suppressors, which norm... |
inheritance | Is tuberous sclerosis complex inherited ? | Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a par... |
treatment | What are the treatments for tuberous sclerosis complex ? | These resources address the diagnosis or management of tuberous sclerosis complex: - Gene Review: Gene Review: Tuberous Sclerosis Complex - Genetic Testing Registry: Tuberous sclerosis syndrome - MedlinePlus Encyclopedia: Tuberous Sclerosis - Tuberous Sclerosis Alliance: TSC Clinics These resources from MedlinePl... |
information | What is (are) factor V Leiden thrombophilia ? | Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. People with factor V Leiden thrombophilia have a higher than average... |
frequency | How many people are affected by factor V Leiden thrombophilia ? | Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations. |
genetic changes | What are the genetic changes related to factor V Leiden thrombophilia ? | A particular mutation in the F5 gene causes factor V Leiden thrombophilia. The F5 gene provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. The coagulat... |
inheritance | Is factor V Leiden thrombophilia inherited ? | The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that ... |
treatment | What are the treatments for factor V Leiden thrombophilia ? | These resources address the diagnosis or management of factor V Leiden thrombophilia: - American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing - Gene Review: Gene Review: Factor V Leiden Thrombophilia - GeneFacts: Factor V Leiden-Associated Thrombosis: Diagnosis - GeneFacts: Fa... |
information | What is (are) chronic granulomatous disease ? | Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease... |
frequency | How many people are affected by chronic granulomatous disease ? | Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide. |
genetic changes | What are the genetic changes related to chronic granulomatous disease ? | Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essentia... |
inheritance | Is chronic granulomatous disease inherited ? | When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. The CYBB gene 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 sufficie... |
treatment | What are the treatments for chronic granulomatous disease ? | These resources address the diagnosis or management of chronic granulomatous disease: - American Academy of Allergy, Asthma, and Immunology - Gene Review: Gene Review: Chronic Granulomatous Disease - Genetic Testing Registry: Chronic granulomatous disease, X-linked - Genetic Testing Registry: Chronic granulomatous ... |
information | What is (are) osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... |
frequency | How many people are affected by osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people. |
genetic changes | What are the genetic changes related to osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role... |
inheritance | Is osteoporosis-pseudoglioma syndrome inherited ? | Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 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 co... |
treatment | What are the treatments for osteoporosis-pseudoglioma syndrome ? | These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Oste... |
information | What is (are) 15q24 microdeletion ? | 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24. 15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other comm... |
frequency | How many people are affected by 15q24 microdeletion ? | This condition is very rare; only a few dozen affected individuals have been identified. |
genetic changes | What are the genetic changes related to 15q24 microdeletion ? | People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (base pairs), also written as 1.7-6.1 megabases (Mb), at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes ... |
inheritance | Is 15q24 microdeletion inherited ? | The identified cases of 15q24 microdeletion have occurred in people with no history of the condition in their family. The chromosomal change likely occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. |
treatment | What are the treatments for 15q24 microdeletion ? | These resources address the diagnosis or management of 15q24 microdeletion: - Gene Review: Gene Review: 15q24 Microdeletion - Genetic Testing Registry: 15q24 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D... |
information | What is (are) branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which ar... |
frequency | How many people are affected by branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is a rare condition, although the prevalence is unknown. |
genetic changes | What are the genetic changes related to branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the act... |
inheritance | Is branchio-oculo-facial syndrome inherited ? | Branchio-oculo-facial syndrome 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 about half of cases, an affected person inherits the mutation from one affected parent. The remaining cases occur in people whose parents do not ha... |
treatment | What are the treatments for branchio-oculo-facial syndrome ? | These resources address the diagnosis or management of branchio-oculo-facial syndrome: - Gene Review: Gene Review: Branchiooculofacial Syndrome - Genetic Testing Registry: Branchiooculofacial syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate These resources from MedlinePlus offer information about the diag... |
information | What is (are) Pallister-Hall syndrome ? | Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is ch... |
frequency | How many people are affected by Pallister-Hall syndrome ? | This condition is very rare; its prevalence is unknown. |
genetic changes | What are the genetic changes related to Pallister-Hall syndrome ? | Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 pr... |
inheritance | Is Pallister-Hall 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 some cases, an affected person inherits a mutation in the GLI3 gene from one affected parent. Other cases result from new mutations in the gene and occur in people ... |
treatment | What are the treatments for Pallister-Hall syndrome ? | These resources address the diagnosis or management of Pallister-Hall syndrome: - Gene Review: Gene Review: Pallister-Hall Syndrome - Genetic Testing Registry: Pallister-Hall syndrome - MedlinePlus Encyclopedia: Epiglottis (Image) - MedlinePlus Encyclopedia: Imperforate Anus - MedlinePlus Encyclopedia: Polydactyly... |
information | What is (are) congenital fibrosis of the extraocular muscles ? | Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscle... |
frequency | How many people are affected by congenital fibrosis of the extraocular muscles ? | CFEOM1 is the most common form of congenital fibrosis of the extraocular muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very rare; it has bee... |
genetic changes | What are the genetic changes related to congenital fibrosis of the extraocular muscles ? | CFEOM1 and rare cases of CFEOM3 result from mutations in the KIF21A gene. This gene provides instructions for making a protein called a kinesin, which is essential for the transport of materials within cells. Researchers believe that this protein plays an important role in the normal development and function of nerves ... |
inheritance | Is congenital fibrosis of the extraocular muscles inherited ? | The different types of congenital fibrosis of the extraocular muscles have different patterns of inheritance. CFEOM1 and CFEOM3 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutati... |
treatment | What are the treatments for congenital fibrosis of the extraocular muscles ? | These resources address the diagnosis or management of congenital fibrosis of the extraocular muscles: - Gene Review: Gene Review: Congenital Fibrosis of the Extraocular Muscles - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 1 - Genetic Testing Registry: Fibrosis of extraocular muscles, con... |
information | What is (are) X-linked dystonia-parkinsonism ? | X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women. Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. Parkinsonism is a group of movement abnormalities including tremors, unusually s... |
frequency | How many people are affected by X-linked dystonia-parkinsonism ? | X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. Most people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. The prevalence of the disorder is 5.24 per 100,000 peopl... |
genetic changes | What are the genetic changes related to X-linked dystonia-parkinsonism ? | Mutations in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most gen... |
inheritance | Is X-linked dystonia-parkinsonism 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... |
treatment | What are the treatments for X-linked dystonia-parkinsonism ? | These resources address the diagnosis or management of X-linked dystonia-parkinsonism: - Gene Review: Gene Review: X-Linked Dystonia-Parkinsonism Syndrome - Genetic Testing Registry: Dystonia 3, torsion, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health... |
information | 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 ... |
frequency | 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... |
genetic changes | 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... |
inheritance | 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 ... |
treatment | 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 ... |
information | What is (are) 21-hydroxylase deficiency ? | 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are ... |
frequency | How many people are affected by 21-hydroxylase deficiency ? | The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic and non-classic forms varies among different ethnic populations. 21-hydroxylase deficiency is one o... |
genetic changes | What are the genetic changes related to 21-hydroxylase deficiency ? | Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. Cortisol has numerous functions, such as maintaining ... |
inheritance | Is 21-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. |
treatment | What are the treatments for 21-hydroxylase deficiency ? | These resources address the diagnosis or management of 21-hydroxylase deficiency: - Baby's First Test - CARES Foundation: Treatment - Gene Review: Gene Review: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Genetic Testing Registry: 21-hydroxylase deficiency - MedlinePlus Encyclopedia: Congenital Adrena... |
information | What is (are) multiple system atrophy ? | Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. Researchers have described two major types of mult... |
frequency | How many people are affected by multiple system atrophy ? | Multiple system atrophy has a prevalence of about 2 to 5 per 100,000 people. |
genetic changes | What are the genetic changes related to multiple system atrophy ? | Multiple system atrophy is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in several genes have been studied as possible risk factors for multiple system atrophy. The only confirmed... |
inheritance | Is multiple system atrophy inherited ? | Most cases of multiple system atrophy are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. |
treatment | What are the treatments for multiple system atrophy ? | These resources address the diagnosis or management of multiple system atrophy: - Genetic Testing Registry: Shy-Drager syndrome - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... |
information | What is (are) complement component 2 deficiency ? | Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement compo... |
frequency | How many people are affected by complement component 2 deficiency ? | In Western countries, complement component 2 deficiency is estimated to affect 1 in 20,000 individuals; its prevalence in other areas of the world is unknown. |
genetic changes | What are the genetic changes related to complement component 2 deficiency ? | Complement component 2 deficiency is caused by mutations in the C2 gene. This gene provides instructions for making the complement component 2 protein, which helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy for... |
inheritance | Is complement component 2 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. |
treatment | What are the treatments for complement component 2 deficiency ? | These resources address the diagnosis or management of complement component 2 deficiency: - Genetic Testing Registry: Complement component 2 deficiency - MedlinePlus Encyclopedia: Complement - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resources fro... |
information | What is (are) Darier disease ? | Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mu... |
frequency | How many people are affected by Darier disease ? | The worldwide prevalence of Darier disease is unknown. The prevalence of Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 people in northern England, and 1 in 100,000 people in Denmark. |
genetic changes | What are the genetic changes related to Darier disease ? | Mutations in the ATP2A2 gene cause Darier disease. The ATP2A2 gene provides instructions for producing an enzyme abbreviated as SERCA2. This enzyme acts as a pump that helps control the level of positively charged calcium atoms (calcium ions) inside cells, particularly in the endoplasmic reticulum and the sarcoplasmic ... |
inheritance | Is Darier disease 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 some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people w... |
treatment | What are the treatments for Darier disease ? | These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... |
information | What is (are) hereditary myopathy with early respiratory failure ? | Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing. The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. Among t... |
frequency | How many people are affected by hereditary myopathy with early respiratory failure ? | HMERF is a rare condition. It has been reported in several families of Swedish and French descent, and in at least one individual from Italy. |
genetic changes | What are the genetic changes related to hereditary myopathy with early respiratory failure ? | HMERF can be caused by a mutation in the TTN gene. 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 sarcomere... |
inheritance | Is hereditary myopathy with early respiratory failure 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. |
treatment | What are the treatments for hereditary myopathy with early respiratory failure ? | These resources address the diagnosis or management of HMERF: - Gene Review: Gene Review: Hereditary Myopathy with Early Respiratory Failure (HMERF) - Genetic Testing Registry: Hereditary myopathy with early respiratory failure - National Heart, Lung, and Blood Institute: How Is Respiratory Failure Diagnosed? - Nat... |
information | What is (are) cyclic vomiting syndrome ? | Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age. The episodes of nausea, vomiting, and lethargy last anywhere from an hour to 10 days. An affected person ma... |
frequency | How many people are affected by cyclic vomiting syndrome ? | The exact prevalence of cyclic vomiting syndrome is unknown; estimates range from 4 to 2,000 per 100,000 children. The condition is diagnosed less frequently in adults, although recent studies suggest that the condition may begin in adulthood as commonly as it begins in childhood. |
genetic changes | What are the genetic changes related to cyclic vomiting syndrome ? | Although the causes of cyclic vomiting syndrome have yet to be determined, researchers have proposed several factors that may contribute to the disorder. These factors include changes in brain function, hormonal abnormalities, and gastrointestinal problems. Many researchers believe that cyclic vomiting syndrome is a mi... |
inheritance | Is cyclic vomiting syndrome inherited ? | In most cases of cyclic vomiting syndrome, affected people have no known history of the disorder in their family. However, many affected individuals have a family history of related conditions, such as migraines, irritable bowel syndrome, or depression, in their mothers and other maternal relatives. This family history... |
treatment | What are the treatments for cyclic vomiting syndrome ? | These resources address the diagnosis or management of cyclic vomiting syndrome: - Children's Hospital of Wisconsin - Genetic Testing Registry: Cyclical vomiting syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug T... |
information | What is (are) congenital dyserythropoietic anemia ? | Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the ... |
frequency | How many people are affected by congenital dyserythropoietic anemia ? | Several hundred cases of CDA have been reported worldwide. CDA type II is the most common form of the disorder, with more than 300 reported cases. CDA type III is the rarest form; it has been described in only a few families from Sweden, Argentina, and the United States. The incidence of CDA type I is unknown. Because ... |
genetic changes | What are the genetic changes related to congenital dyserythropoietic anemia ? | CDA type I usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I. Some people with this condition do not have identified mutations in the CDAN1 gene, leading researchers to believe that mutations... |
inheritance | Is congenital dyserythropoietic anemia inherited ? | The inheritance pattern of CDA depends on the type of the disorder. CDA types I and II 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 recessive condition each carry one copy of the mutated gene, ... |
treatment | What are the treatments for congenital dyserythropoietic anemia ? | These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II - Genetic Testing Registry: Congenital d... |
information | What is (are) MyD88 deficiency ? | MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of... |
frequency | How many people are affected by MyD88 deficiency ? | The prevalence of MyD88 deficiency is unknown. At least 24 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to MyD88 deficiency ? | MyD88 deficiency is caused by mutations in the MYD88 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection. The MyD88 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiat... |
inheritance | Is MyD88 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. |
treatment | What are the treatments for MyD88 deficiency ? | These resources address the diagnosis or management of MyD88 deficiency: - Genetic Testing Registry: Myd88 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counse... |
information | What is (are) metachromatic leukodystrophy ? | Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white ... |
frequency | How many people are affected by metachromatic leukodystrophy ? | Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation... |
genetic changes | What are the genetic changes related to metachromatic leukodystrophy ? | Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down sulfatides. A ... |
inheritance | Is metachromatic leukodystrophy 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. |
treatment | What are the treatments for metachromatic leukodystrophy ? | These resources address the diagnosis or management of metachromatic leukodystrophy: - Gene Review: Gene Review: Arylsulfatase A Deficiency - Genetic Testing Registry: Metachromatic leukodystrophy - Genetic Testing Registry: Sphingolipid activator protein 1 deficiency These resources from MedlinePlus offer informa... |
information | What is (are) Kleefstra syndrome ? | Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... |
frequency | How many people are affected by Kleefstra syndrome ? | The prevalence of Kleefstra syndrome is unknown. Only recently has testing become available to distinguish it from other disorders with similar features. |
genetic changes | What are the genetic changes related to Kleefstra syndrome ? | Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins th... |
inheritance | Is Kleefstra syndrome inherited ? | The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as ... |
treatment | What are the treatments for Kleefstra syndrome ? | These resources address the diagnosis or management of Kleefstra syndrome: - Gene Review: Gene Review: Kleefstra Syndrome - Genetic Testing Registry: Chromosome 9q deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... |
information | What is (are) Weill-Marchesani syndrome ? | Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers a... |
frequency | How many people are affected by Weill-Marchesani syndrome ? | Weill-Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people. |
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