National Organization for Rare Disorders, Inc.
It is possible that the main title of the report MDR3 Deficiency is not the name you expected.
- Low Phospholipid Associated Cholelithiasis
- Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3)
MDR3 deficiency is a rare genetic disorder that predominantly affects the liver. The disorder represents a spectrum of diseases that can range from mild to severe. The main symptom is interruption or suppression of the flow of bile from the liver (cholestasis). In addition, affected individuals may be prone to forming gallstones. Cholestasis in MDR3 deficiency occurs due to defects within the liver (intrahepatic) rather than within the bile ducts outside the liver (extrahepatic). Cholestasis can cause yellowing of the skin mucous membranes and whites of the eyes (jaundice), failure to thrive, growth deficiency, easy bleeding, rickets and persistent itchiness. Symptoms may be present in the neonatal period rather than at birth (congenital) or, in mild cases, may not appear until middle age when the disorder manifests as intrahepatic cholestasis of pregnancy, gallstone disease, or jaundice and scarring of the liver (cirrhosis). MDR3 deficiency is caused by mutations of the ABCB4 gene and is inherited as an autosomal recessive trait.
The terminology used to describe MDR3 deficiency can be confusing. The term can be applied to several disorders including progressive familial intrahepatic cholestasis (PFIC) type 3, benign recurrent intrahepatic cholestasis (BRIC) type 3, low phospholipid associated cholelithiasis (LPAC) syndrome, adult biliary fibrosis or cirrhosis, and certain cases of intrahepatic cholestasis of pregnancy (ICP), of drug induced cholestasis (DIC) and of transient neonatal cholestasis (TNC). These disorders are all caused by mutations of the ABCB4 gene and resulting deficiency of MDR3.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
NIH/National Diabetes Information Clearinghouse
9000 Rockville Pike
Bethesda, MD 20892
Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, B3 3JY
Children's Liver Association for Support Services (C.L.A.S.S.)
25379 Wayne Mills Place, Suite 143
Valencia, CA 91355
Canadian Liver Foundation
3100 Steeles Avenue East Suite 801
Markham Ontario, L3R 8T3
Progressive Familial Intrahepatic Cholestasis Web Group
2117 Tamworth Ct.
Bedford, TX 76021
Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
13123 E 16th Ave. B290
Aurora, CO 80045
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Last Updated: 9/18/2011
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