European Journal of Human Genetics - Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3

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European Journal of Human Genetics - Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 4 September 2013; doi: 10.1038/ejhg.2013.188

Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3

Emmanuel Gonzales^1,2, Anne Spraul³ and Emmanuel Jacquemin^1,2

1. ¹INSERM, UMR-S757, University of Paris-Sud 11, Orsay, France
2. ²Pediatric Hepatology and Liver transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre Universitary Hospital, Faculty of Medicine Paris–Sud, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France
3. ³Biochemistry Unit, Bicêtre Universitary Hospital, Faculty of Medicine Paris–Sud, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France

Correspondence: Professor E Jacquemin, Service d'hépatologie et de transplantation hépatique pédiatriques, CHU Bicêtre, 77 rue du Général Leclerc, Le Kremlin-Bicêtre 94275, France. Tel: +33 145213164; Fax: +33 145212816; E-mail: emmanuel.jacquemin@bct.aphp.fr

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1. Disease characteristics

1.1 Name of the disease (synonyms)

1. Progressive familial intrahepatic cholestasis type 3 (PFIC3).

2. Multidrug resistance 3 (MDR3) deficiency.

PFIC3 is a hereditary disorder in bile formation because of a defect of MDR3, which is hepatocellular in origin.^{1, 2}

1.2 OMIM# of the disease

602347.

1.3 Name of the analysed genes or DNA/chromosome segments

ATP-binding cassette sub-family B, member 4 or ABCB4.

Chromosome 7q21.1 (g.87105019-87031362).