Important It is possible that the main title of the report MDR3 Deficiency is not the name you expected.
Summary 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.
Introduction 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 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
American Liver Foundation 39 Broadway, Suite 2700 New York, NY 10006 USA Fax: (212)483-8179 Tel: (800)465-4837 Email: http://www.liverfoundation.org/contact/ Internet: http://www.liverfoundation.org
Children's Liver Disease Foundation 36 Great Charles Street Birmingham, B3 3JY United Kingdom Tel: 01212123839 Fax: 01212124300 Email: firstname.lastname@example.org Internet: http://www.childliverdisease.org
Children's Liver Association for Support Services (C.L.A.S.S.) 25379 Wayne Mills Place, Suite 143 Valencia, CA 91355 USA Tel: (661)263-9099 Fax: (661)263-9099 Tel: (877)679-8256 Email: email@example.com Internet: http://www.classkids.org
Canadian Liver Foundation 3100 Steeles Avenue East Suite 801 Markham Ontario, L3R 8T3 Canada Tel: 4164913353 Fax: 9057521540 Tel: 8005635483 Email: firstname.lastname@example.org Internet: http://www.liver.ca
Progressive Familial Intrahepatic Cholestasis Web Group 2117 Tamworth Ct. Bedford, TX 76021 Tel: (817)280-0784 Email: PFICII@PFIC.org Internet: http://www.pfic.org/
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 Tel: (720)777-2598 Fax: (720)777-7351 Email: email@example.com Internet: http://www.childrennetwork.org
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Last Updated: 2/20/2014 Copyright 2011, 2014 National Organization for Rare Disorders, Inc.
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