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Encyclopedia > Alagille syndrome

Alagille syndrome is a genetic disorder that affects the liver, heart, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 70,000 live births. A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... The liver is an organ in vertebrates, including humans. ... The heart and lungs (from an older edition of Grays Anatomy) The heart (Latin cor) is a hollow, muscular organ that pumps blood through the blood vessels by repeated, rhythmic contractions. ... An autosomal dominant gene is an abnormal gene on one of the autosomal (non-sex determining) chromosomes. ...


The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation. An organ transplant is the transplantation of an organ (or part of one) from one body to another, for the purpose of replacing the recipients damaged or failing organ with a working one from the donor. ...


Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching, and deposits of cholesterol in the skin (xanthomas). A liver biopsy may indicate too few bile ducts (bile duct paucity). Other signs of Alagille syndrome include congenital heart problems and an unusual butterfly shape of the bones of the spinal column that can be seen in an x-ray. Many people with Alagille syndrome have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. The kidneys and central nervous system may also be affected. Model of the layers of human skin In zootomy and dermatology, skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. ... Jaundice, technically known as icterus, is yellowing of the skin, sclera (the white of the eyes) and mucous membranes caused by increased levels of bilirubin in the system. ... Cholesterol is a steroid lipid, found in the cell membranes of all body tissues, and transported in the blood plasma of all animals. ... A xanthoma is a deposition of cholesterol-rich material in tendons and other body parts in various disease states: Tendon xanthomas (associated with familial hypercholesterolemia, cerebrotendineous xanthomatosis and phytosterolemia) Palmar xanthomas Eruptive xanthomas See also xanthelasma Categories: Stub | Sign (medicine) ... A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ... A bile duct is any of a number of long tube-like structures that carry bile. ... In the NATO phonetic alphabet, X-ray represents the letter X. An X-ray picture (radiograph) taken by Röntgen An X-ray is a form of electromagnetic radiation with a wavelength approximately in the range of 5 pm to 10 nanometers (corresponding to frequencies in the range 30 PHz... Kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... The vertebrate central nervous system consists of the brain and spinal cord. ...


Mutations in the JAG1 gene cause Alagille syndrome. The JAG1 gene is involved in signaling between adjacent cells during embryonic development. This signaling influences how the cells are used to build body structures in the developing embryo. Mutations in JAG1 disrupt the signaling pathway, causing errors in development, especially of the heart, bile ducts in the liver, spinal column, and certain facial features. Mutations are permanent, sometimes transmissible (if the change is to a germ cell) changes to the genetic material (usually DNA or RNA) of a cell. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Mammalian embryogenesis is the process of cell division and cellular differentiation which leads to the development of a mammalian embryo. ... Embryos (and one tadpole) of the wrinkled frog (Rana rugosa you beezie). ...


Narrowed and malformed bile ducts in the liver produce many of the health problems associated with Alagille syndrome. Bile is produced in the liver and moves through the bile ducts into the small intestine, where it helps to digest fat. In Alagille syndrome, the bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. Bile (or gall) is a bitter, greenish-yellow alkaline fluid secreted by the liver of most vertebrates. ... Diagram showing the poop shoot In biology the small intestine is the part of the gastrointestinal tract between the stomach and the large intestine (colon). ...


This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene 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 with no history of the disorder in their family. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...


This article incorporates public domain text from The U.S. National Library of Medicine


  Results from FactBites:
 
Alagille's syndrome (866 words)
Mutations in JAGGED1 gene are predominantly sporadic in alagille syndrome.
Cutaneous photosensitivity and coproporphyrin abnormalities in the Alagille syndrome.
Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy.
Alagille Syndrome- Health Encyclopedia and Reference (906 words)
Alagille syndrome is a genetic disorder that mimics other forms of prolonged liver disease in infants and young children.
Children with Alagille syndrome usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life and narrowing of the bile ducts outside the liver.
Alagille syndrome is generally inherited from one parent and there is a 50 percent chance that each child will develop the syndrome.
  More results at FactBites »

 
 

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