Genetic deletion

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  Alpha 1-antitrypsin deficiency

  Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD or simply Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There...
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  Genetic deletion

  In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an...
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  Marfan syndrome

  Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people...
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  Wilson's disease

  Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper...
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  Cystic fibrosis

  Cystic fibrosis (also known as CF, mucovoidosis, or mucoviscidosis) is a genetic disorder known to be an inherited disease of the secretory glands, including the glands that make mucus and sweat. The hallmarks of cystic fibrosis are salty tasting skin, normal appetite but poor growth and poor...
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  Retinoblastoma

  Retinoblastoma (Rb) is a rapidly developing cancer which develops in the cells of the retina, the light detecting tissue of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers (95-98%), with more than nine out of every ten sufferers surviving into adulthood....
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  Coeliac disease

  Coeliac disease (pronounced /ˈsiːli.æk/; spelled celiac disease in North America) is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include chronic diarrhoea, failure to thrive (in children), and fatigue,...
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  Achondroplasia

  Achondroplasia dwarfism (pronounced /eɪ kɒn droʊ 'pleɪ ziː ʌ/) is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3-1/2 inches) for males and 123 cm (4 feet, 1/2 inches) for...

• Congenital heart defect

  A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels of a newborn. Most heart defects either obstruct blood flow in the heart or vessels near it or cause blood to flow through the heart in an abnormal pattern, although other defects affecting heart rhythm ...

• Hypochondroplasia

  Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the...