Skip to content

    Cancer Health Center

    Font Size
    A
    A
    A

    MDR3 Deficiency

    Important
    It is possible that the main title of the report MDR3 Deficiency is not the name you expected.

    Disorder Subdivisions

    • None

    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

    Children's Liver Disease Foundation
    36 Great Charles Street
    Birmingham, B3 3JY
    United Kingdom
    Tel: 01212123839
    Fax: 01212124300
    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
    3100 Steeles Avenue East Suite 801
    Markham Ontario, L3R 8T3
    Canada
    Tel: 4164913353
    Fax: 9057521540
    Tel: 8005635483
    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
    Children's Hospital Colorado
    13123 E 16th Ave. B290
    Aurora, CO 80045
    Tel: (720)777-2598
    Fax: (720)777-7351
    Email: joan.hines@childrenscolorado.org
    Internet: http://www.childrennetwork.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    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: 2/20/2014
    Copyright 2011, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    Colorectal cancer cells
    New! I AM Not Cancer Facebook Group
    Lung cancer xray
    See it in pictures, plus read the facts.
     
    sauteed cherry tomatoes
    Fight cancer one plate at a time.
    Ovarian cancer illustration
    Real Cancer Perspectives
     
    Jennifer Goodman Linn self-portrait
    Blog
    what is your cancer risk
    HEALTH CHECK
     
    colorectal cancer treatment advances
    Video
    breast cancer overview slideshow
    SLIDESHOW
     
    prostate cancer overview
    SLIDESHOW
    lung cancer overview slideshow
    SLIDESHOW
     
    ovarian cancer overview slideshow
    SLIDESHOW
    Actor Michael Douglas
    Article