National Organization for Rare Disorders, Inc.
It is possible that the main title of the report MDR3 Deficiency is not the name you expected.
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.
American Liver Foundation
- 39 Broadway, Suite 2700
- New York, NY 10006
- Fax: (212)483-8179
- Tel: (800)465-4837
- Email: http://www.liverfoundation.org/contact/
- Website: http://www.liverfoundation.org
Canadian Liver Foundation
- 3100 Steeles Avenue East Suite 801
- Markham Ontario, L3R 8T3
- Tel: 4164913353
- Fax: 9057521540
- Tel: 8005635483
- Email: email@example.com
- Website: http://www.liver.ca
Childhood Liver Disease Research and Education Network
- c/o Joan M. Hines, Research Administrator
- Children's Hospital Colorado
- Aurora, CO 80045
- Tel: (720)777-2598
- Fax: (720)777-7351
- Email: firstname.lastname@example.org
- Website: http://www.childrennetwork.org
Children's Liver Association for Support Services (C.L.A.S.S.)
- 25379 Wayne Mills Place, Suite 143
- Valencia, CA 91355
- Tel: (661)263-9099
- Fax: (661)263-9099
- Tel: (877)679-8256
- Email: email@example.com
- Website: http://www.classkids.org
Children's Liver Disease Foundation
- 36 Great Charles Street
- Birmingham, B3 3JY
- United Kingdom
- Tel: 1212123839
- Fax: 1212124300
- Email: firstname.lastname@example.org
- Website: http://www.childliverdisease.org
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
Progressive Familial Intrahepatic Cholestasis Web Group
- 2117 Tamworth Ct.
- Bedford, TX 76021
- Tel: (817)280-0784
- Email: PFICII@PFIC.org
- Website: http://www.pfic.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.
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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 email@example.com
Last Updated: 12/27/1969
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