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Thursday, Nov 20, 2008 | 07:45 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
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Factor X Deficiency
Stuart-Prower deficiency
Factor X deficiency is a disorder of abnormal blood clotting (coagulation), caused by a shortage of a plasma protein called factor X. Factor X is a vitamin K dependent protein that plays a critical role with other clotting factors to form a substance called fibrin that stops bleeding. Without adequate levels of factor X, simply cuts and bruises can become significant sources of bleeding.
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Factor XII Deficiency
Hageman Factor Deficiency, HAF
Factor XII deficiency is a rare, inherited, blood disorder that usually goes unnoticed until there are abnormalities in specific blood coagulation tests. While Factor XII levels can be dangerously low, most children with Factor XII deficiency do not have problems with excessive bleeding. Hageman Factor is a blood protein that participates in the blood clotting cascade, which is a chain reaction th...
Factor XIII Deficiency
Factor XIII deficiency is a very rare, inherited bleeding disorder similar to hemophilia. It was first described in 1960. The deficiency of the Factor XIII protein sets this disorder apart from Hemophilia A (Factor VIII deficiency), B (Factor IX deficiency), and C (Factor XI deficiency). ...
Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP) is a genetically inherited condition that causes a minimum of 100 (but up to thousands) of polyps (small projections of tissue) on the inside wall of the intestines, specifically the large intestine, or colon. The polyps typically occur in teenage years or early adulthood and have a very high risk of turning into colon cancer if preventive measures are not tak...
Familial Cold Urticaria
Familial Cold Autoinflammatory Syndrome, Cold Hypersensitivity,
Familial Polymorphous Cold Eruptio
Familial cold urticaria is an inherited autoimmune disorder that consists of an often painful rash, fever, and joint pain after exposure to cold. It is considered to be a periodic fever syndrome, a class which includes familial Mediterranean fever. It should be distinguished from the more commonly seen acquired cold urticaria, which presents later in life as an immediate allergic response of itchy...
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