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What is (are) Miller-Dieker syndrome ? | Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain malform... | Miller-Dieker syndrome |
How many people are affected by Miller-Dieker syndrome ? | Miller-Dieker syndrome appears to be a rare disorder, although its prevalence is unknown. | Miller-Dieker syndrome |
What are the genetic changes related to Miller-Dieker syndrome ? | Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers are working ... | Miller-Dieker syndrome |
Is Miller-Dieker syndrome inherited ? | Most cases of Miller-Dieker syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. When Miller-Dieker syndrome is inherited, its inh... | Miller-Dieker syndrome |
What are the treatments for Miller-Dieker syndrome ? | These resources address the diagnosis or management of Miller-Dieker syndrome: - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Genetic Testing Registry: Miller Dieker syndrome These resources from MedlinePlus offer information about the diagnosis and management of various he... | Miller-Dieker syndrome |
What is (are) X-linked hyper IgM syndrome ? | X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, mark... | X-linked hyper IgM syndrome |
How many people are affected by X-linked hyper IgM syndrome ? | X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn boys. | X-linked hyper IgM syndrome |
What are the genetic changes related to X-linked hyper IgM syndrome ? | Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune sys... | X-linked hyper IgM syndrome |
Is X-linked hyper IgM syndrome 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... | X-linked hyper IgM syndrome |
What are the treatments for X-linked hyper IgM syndrome ? | These resources address the diagnosis or management of X-linked hyper IgM syndrome: - Gene Review: Gene Review: X-Linked Hyper IgM Syndrome - Genetic Testing Registry: Immunodeficiency with hyper IgM type 1 - MedlinePlus Encyclopedia: Immunodeficiency Disorders These resources from MedlinePlus offer information ab... | X-linked hyper IgM syndrome |
What is (are) myofibrillar myopathy ? | Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and sympto... | myofibrillar myopathy |
How many people are affected by myofibrillar myopathy ? | The prevalence of myofibrillar myopathy is unknown. | myofibrillar myopathy |
What are the genetic changes related to myofibrillar myopathy ? | Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). The pr... | myofibrillar myopathy |
Is myofibrillar myopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | myofibrillar myopathy |
What are the treatments for myofibrillar myopathy ? | These resources address the diagnosis or management of myofibrillar myopathy: - Gene Review: Gene Review: Myofibrillar Myopathy - Genetic Testing Registry: Alpha-B crystallinopathy - Genetic Testing Registry: Myofibrillar myopathy - Genetic Testing Registry: Myofibrillar myopathy 1 - Genetic Testing Registry: Myof... | myofibrillar myopathy |
What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properly. Organic acid disorders lead to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic acidur... | 2-methylbutyryl-CoA dehydrogenase deficiency |
How many people are affected by 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a rare disorder; its actual incidence is unknown. This disorder is more common, however, among Hmong populations in southeast Asia and in Hmong Americans. 2-methylbutyryl-CoA dehydrogenase deficiency occurs in 1 in 250 to 1 in 500 people of Hmong ancestry. | 2-methylbutyryl-CoA dehydrogenase deficiency |
What are the genetic changes related to 2-methylbutyryl-CoA dehydrogenase deficiency ? | Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortag... | 2-methylbutyryl-CoA dehydrogenase deficiency |
Is 2-methylbutyryl-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. | 2-methylbutyryl-CoA dehydrogenase deficiency |
What are the treatments for 2-methylbutyryl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of 2-methylbutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 2-methylbutyryl-CoA dehydrogenase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... | 2-methylbutyryl-CoA dehydrogenase deficiency |
What is (are) Turner syndrome ? | Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at fi... | Turner syndrome |
How many people are affected by Turner syndrome ? | This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths). | Turner syndrome |
What are the genetic changes related to Turner syndrome ? | Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and... | Turner syndrome |
Is Turner syndrome inherited ? | Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells... | Turner syndrome |
What are the treatments for Turner syndrome ? | These resources address the diagnosis or management of Turner syndrome: - Genetic Testing Registry: Turner syndrome - MedlinePlus Encyclopedia: Ovarian Hypofunction - MedlinePlus Encyclopedia: Turner Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health co... | Turner syndrome |
What is (are) Kufs disease ? | Kufs disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. Two types of Kufs disease ha... | Kufs disease |
How many people are affected by Kufs disease ? | Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals have the condition. Kufs disease is thought to represent 1.3 to 10 percent of all NCLs. | Kufs disease |
What are the genetic changes related to Kufs disease ? | Mutations in the CLN6 or PPT1 gene cause Kufs disease type A, and mutations in the DNAJC5 or CTSF gene cause Kufs disease type B. Most of the proteins or enzymes produced from these genes are involved in breaking down proteins or clearing unneeded materials from cells. The CLN6 gene provides instructions for making a ... | Kufs disease |
Is Kufs disease inherited ? | Kufs disease type A, caused by mutations in the CLN6 or PPT1 gene, has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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... | Kufs disease |
What are the treatments for Kufs disease ? | These resources address the diagnosis or management of Kufs disease: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Adult neuronal ceroid lipofuscinosis - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 4B autosomal dominant These resources from MedlinePlus offer in... | Kufs disease |
What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ? | Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MR... | Mayer-Rokitansky-Kster-Hauser syndrome |
How many people are affected by Mayer-Rokitansky-Kster-Hauser syndrome ? | MRKH syndrome affects approximately 1 in 4,500 newborn girls. | Mayer-Rokitansky-Kster-Hauser syndrome |
What are the genetic changes related to Mayer-Rokitansky-Kster-Hauser syndrome ? | The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome. The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Mllerian duct. This structure in... | Mayer-Rokitansky-Kster-Hauser syndrome |
Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ? | Most cases of MRKH syndrome occur in people with no history of the disorder in their family. Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. How... | Mayer-Rokitansky-Kster-Hauser syndrome |
What are the treatments for Mayer-Rokitansky-Kster-Hauser syndrome ? | These resources address the diagnosis or management of Mayer-Rokitansky-Kster-Hauser syndrome: - American Urological Association Foundation: Vaginal Agenesis - Children's Hospital Boston: Center for Young Women's Health - Genetic Testing Registry: Rokitansky Kuster Hauser syndrome These resources from MedlinePlus ... | Mayer-Rokitansky-Kster-Hauser syndrome |
What is (are) cytogenetically normal acute myeloid leukemia ? | Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body... | cytogenetically normal acute myeloid leukemia |
How many people are affected by cytogenetically normal acute myeloid leukemia ? | Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. Forty to 50 percent of people with acute myeloid leukemia have CN-AML. | cytogenetically normal acute myeloid leukemia |
What are the genetic changes related to cytogenetically normal acute myeloid leukemia ? | CN-AML is classified as "cytogenetically normal" based on the type of genetic changes involved in its development. Cytogenetically normal refers to the fact that this form of acute myeloid leukemia is not associated with large chromosomal abnormalities. About half of people with acute myeloid leukemia have this form of... | cytogenetically normal acute myeloid leukemia |
Is cytogenetically normal acute myeloid leukemia inherited ? | CN-AML is not usually inherited but arises from genetic changes in the body's cells that occur after conception. Rarely, an inherited mutation in the CEBPA gene causes acute myeloid leukemia. In these cases, the condition follows an autosomal dominant pattern of inheritance, which means that one copy of the altered CEB... | cytogenetically normal acute myeloid leukemia |
What are the treatments for cytogenetically normal acute myeloid leukemia ? | These resources address the diagnosis or management of cytogenetically normal acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from MedlinePlus offer information about the diagnosis... | cytogenetically normal acute myeloid leukemia |
What is (are) prothrombin deficiency ? | Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury... | prothrombin deficiency |
How many people are affected by prothrombin deficiency ? | Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population. | prothrombin deficiency |
What are the genetic changes related to prothrombin deficiency ? | Mutations in the F2 gene cause prothrombin deficiency. The F2 gene provides instructions for making the prothrombin protein (also called coagulation factor II), which plays a critical role in the formation of blood clots in response to injury. Prothrombin is the precursor to thrombin, a protein that initiates a series ... | prothrombin deficiency |
Is prothrombin 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. | prothrombin deficiency |
What are the treatments for prothrombin deficiency ? | These resources address the diagnosis or management of prothrombin deficiency: - Genetic Testing Registry: Prothrombin deficiency, congenital - MedlinePlus Encyclopedia: Factor II deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | prothrombin deficiency |
What is (are) familial exudative vitreoretinopathy ? | Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to t... | familial exudative vitreoretinopathy |
How many people are affected by familial exudative vitreoretinopathy ? | The prevalence of familial exudative vitreoretinopathy is unknown. It appears to be rare, although affected people with normal vision may never come to medical attention. | familial exudative vitreoretinopathy |
What are the genetic changes related to familial exudative vitreoretinopathy ? | Mutations in the FZD4, LRP5, and NDP genes can cause familial exudative vitreoretinopathy. These genes provide instructions for making proteins that participate in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the proteins produced from the FZD4, LRP5, and NDP genes appear ... | familial exudative vitreoretinopathy |
Is familial exudative vitreoretinopathy inherited ? | Familial exudative vitreoretinopathy has different inheritance patterns depending on the gene involved. Most commonly, the condition results from mutations in the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is suf... | familial exudative vitreoretinopathy |
What are the treatments for familial exudative vitreoretinopathy ? | These resources address the diagnosis or management of familial exudative vitreoretinopathy: - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Exudative vitreoretinopathy 1 - Genetic Testing Registry... | familial exudative vitreoretinopathy |
What is (are) autosomal dominant vitreoretinochoroidopathy ? | Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnorma... | autosomal dominant vitreoretinochoroidopathy |
How many people are affected by autosomal dominant vitreoretinochoroidopathy ? | ADVIRC is considered a rare disease. Its prevalence is unknown. | autosomal dominant vitreoretinochoroidopathy |
What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ? | ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina a... | autosomal dominant vitreoretinochoroidopathy |
Is autosomal dominant vitreoretinochoroidopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | autosomal dominant vitreoretinochoroidopathy |
What are the treatments for autosomal dominant vitreoretinochoroidopathy ? | These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Vitreoretinochoroidopathy dominant These resources from MedlinePlus offer information about the diagnosis and management of va... | autosomal dominant vitreoretinochoroidopathy |
What is (are) geleophysic dysplasia ? | Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... | geleophysic dysplasia |
How many people are affected by geleophysic dysplasia ? | Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported. | geleophysic dysplasia |
What are the genetic changes related to geleophysic dysplasia ? | Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that... | geleophysic dysplasia |
Is geleophysic dysplasia 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. | geleophysic dysplasia |
What are the treatments for geleophysic dysplasia ? | These resources address the diagnosis or management of geleophysic dysplasia: - Gene Review: Gene Review: Geleophysic Dysplasia - Genetic Testing Registry: Geleophysic dysplasia 2 - MedlinePlus Encyclopedia: Short Stature These resources from MedlinePlus offer information about the diagnosis and management of vari... | geleophysic dysplasia |
What is (are) 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed developmen... | 2-hydroxyglutaric aciduria |
How many people are affected by 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have each been reported to affect fewer than 150 individuals worldwide. Combined D,L-2-HGA appears to be even rarer, with only about a dozen reported cases. | 2-hydroxyglutaric aciduria |
What are the genetic changes related to 2-hydroxyglutaric aciduria ? | The different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the D2HGDH gene; type II is caused by mutations in the IDH2 gene. L-2-HGA results from mutations in the L2HGDH gene. Combined D,L-2-HGA is caused by mutations in the SLC25A1 gene. The D2HG... | 2-hydroxyglutaric aciduria |
Is 2-hydroxyglutaric aciduria inherited ? | D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and sy... | 2-hydroxyglutaric aciduria |
What are the treatments for 2-hydroxyglutaric aciduria ? | These resources address the diagnosis or management of 2-hydroxyglutaric aciduria: - Genetic Testing Registry: Combined d-2- and l-2-hydroxyglutaric aciduria - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 1 - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 2 - Genetic Testing Registry: L-2-hydroxyg... | 2-hydroxyglutaric aciduria |
What is (are) Dubin-Johnson syndrome ? | Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood, although a few individuals have been diagnosed soon after birth. Jaundice is typically the only symptom of Dubin-Johns... | Dubin-Johnson syndrome |
How many people are affected by Dubin-Johnson syndrome ? | Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, it is more common among Iranian and Moroccan Jews living in Israel. Studies suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. Additionally, several people in the Japanese population have been diagnosed with Dubin-Johnson syn... | Dubin-Johnson syndrome |
What are the genetic changes related to Dubin-Johnson syndrome ? | Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. The ABCC2 gene provides instructions for making a protein called multidrug resistance protein 2 (MRP2). This protein acts as a pump to transport substances out of the liver, kidneys, intestine, or placenta so they can be excreted from the body. For exampl... | Dubin-Johnson syndrome |
Is Dubin-Johnson 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. | Dubin-Johnson syndrome |
What are the treatments for Dubin-Johnson syndrome ? | These resources address the diagnosis or management of Dubin-Johnson syndrome: - Genetic Testing Registry: Dubin-Johnson syndrome - MedlinePlus Encyclopedia: Bilirubin - MedlinePlus Encyclopedia: Dubin-Johnson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various... | Dubin-Johnson syndrome |
What is (are) allergic asthma ? | Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, ... | allergic asthma |
How many people are affected by allergic asthma ? | Approximately 235 million people worldwide have asthma. In the United States, the condition affects an estimated 8 percent of the population. In nearly 90 percent of children and 50 percent of adults with asthma, the condition is classified as allergic asthma. | allergic asthma |
What are the genetic changes related to allergic asthma ? | The cause of allergic asthma is complex. It is likely that a combination of multiple genetic and environmental factors contribute to development of the condition. Doctors believe genes are involved because having a family member with allergic asthma or another allergic disorder increases a person's risk of developing a... | allergic asthma |
Is allergic asthma inherited ? | Allergic asthma can be passed through generations in families, but the inheritance pattern is unknown. People with mutations in one or more of the associated genes inherit an increased risk of allergic asthma, not the condition itself. Because allergic asthma is a complex condition influenced by genetic and environment... | allergic asthma |
What are the treatments for allergic asthma ? | These resources address the diagnosis or management of allergic asthma: - American Academy of Allergy Asthma and Immunology: Asthma Treatment and Management - Genetic Testing Registry: Asthma, atopic - Genetic Testing Registry: Asthma, susceptibility to These resources from MedlinePlus offer information about the ... | allergic asthma |
What is (are) supravalvular aortic stenosis ? | Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is locat... | supravalvular aortic stenosis |
How many people are affected by supravalvular aortic stenosis ? | SVAS occurs in 1 in 20,000 newborns worldwide. | supravalvular aortic stenosis |
What are the genetic changes related to supravalvular aortic stenosis ? | Mutations in the ELN gene cause SVAS. The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers, which are slender bundles of p... | supravalvular aortic stenosis |
Is supravalvular aortic stenosis 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. However, some people who inherit the altered gene never develop features of SVAS. (This situation is known as reduced penetrance.) In some cases, a person inherits th... | supravalvular aortic stenosis |
What are the treatments for supravalvular aortic stenosis ? | These resources address the diagnosis or management of supravalvular aortic stenosis: - Children's Hospital of Philadelphia - Genetic Testing Registry: Supravalvar aortic stenosis - Monroe Carell Jr. Children's Hospital at Vanderbilt These resources from MedlinePlus offer information about the diagnosis and manage... | supravalvular aortic stenosis |
What is (are) atelosteogenesis type 2 ? | Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an i... | atelosteogenesis type 2 |
How many people are affected by atelosteogenesis type 2 ? | Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown. | atelosteogenesis type 2 |
What are the genetic changes related to atelosteogenesis type 2 ? | Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton du... | atelosteogenesis type 2 |
Is atelosteogenesis type 2 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. | atelosteogenesis type 2 |
What are the treatments for atelosteogenesis type 2 ? | These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... | atelosteogenesis type 2 |
What is (are) congenital afibrinogenemia ? | Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with ... | congenital afibrinogenemia |
How many people are affected by congenital afibrinogenemia ? | Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns. | congenital afibrinogenemia |
What are the genetic changes related to congenital afibrinogenemia ? | Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In... | congenital afibrinogenemia |
Is congenital afibrinogenemia inherited ? | Congenital afibrinogenemia 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. The parents have about half the normal level of fibrinogen in their bloo... | congenital afibrinogenemia |
What are the treatments for congenital afibrinogenemia ? | These resources address the diagnosis or management of congenital afibrinogenemia: - Genetic Testing Registry: Hereditary factor I deficiency disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... | congenital afibrinogenemia |
What is (are) epidermolysis bullosa with pyloric atresia ? | Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering ... | epidermolysis bullosa with pyloric atresia |
How many people are affected by epidermolysis bullosa with pyloric atresia ? | EB-PA appears to be a rare condition, although its prevalence is unknown. At least 50 affected individuals have been reported worldwide. | epidermolysis bullosa with pyloric atresia |
What are the genetic changes related to epidermolysis bullosa with pyloric atresia ? | EB-PA can be caused by mutations in the ITGA6, ITGB4, and PLEC genes. These genes provide instructions for making proteins with critical roles in the skin and digestive tract. ITGB4 gene mutations are the most common cause of EB-PA; these mutations are responsible for about 80 percent of all cases. ITGA6 gene mutation... | epidermolysis bullosa with pyloric atresia |
Is epidermolysis bullosa with pyloric atresia 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. | epidermolysis bullosa with pyloric atresia |
What are the treatments for epidermolysis bullosa with pyloric atresia ? | These resources address the diagnosis or management of epidermolysis bullosa with pyloric atresia: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa with Pyloric Atresia - Genetic Testing Registry: Epidermolysis bullosa simplex with pylori... | epidermolysis bullosa with pyloric atresia |
What is (are) fucosidosis ? | Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire de... | fucosidosis |
How many people are affected by fucosidosis ? | Fucosidosis is a rare condition; approximately 100 cases have been reported worldwide. This condition appears to be most prevalent in Italy, Cuba, and the southwestern United States. | fucosidosis |
What are the genetic changes related to fucosidosis ? | Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is resp... | fucosidosis |
Is fucosidosis 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. | fucosidosis |
What are the treatments for fucosidosis ? | These resources address the diagnosis or management of fucosidosis: - Genetic Testing Registry: Fucosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - P... | fucosidosis |
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