MDR3 Deficiency

National Organization for Rare Disorders, Inc.

Disorder Subdivisions

• Low Phospholipid Associated Cholelithiasis
• Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3)

General Discussion

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.

Resources

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

NIH/National Diabetes Information Clearinghouse
9000 Rockville Pike
Bethesda, MD 20892
Tel: (301)654-3327
Fax: (301)907-8906
Tel: (800)891-5388
Email: DDIC@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, Intl B3 3JY
United Kingdom
Tel: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
Email: info@childliverdisease.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: info@classkids.org
Internet: http://www.classkids.org

Canadian Liver Foundation
2235 Sheppard Avenue
Suite 1500
Toronto, Ontario, Intl M2J 5B5
Canada
Tel: (416) 491-3353
Fax: (416) 491-4952
Tel: (800) 563-5483
Email: clf@liver.ca
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
The Children's Hospital
13123 E 16th Ave. B290
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351
Email: hines.joan@tchden.org
Internet: http://www.childrennetwork.org

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/18/2011
Copyright  2011 National Organization for Rare Disorders, Inc.