European Journal of Human Genetics - Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1

full-text ►
European Journal of Human Genetics - Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 28 August 2013; doi: 10.1038/ejhg.2013.186

Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1

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

Received 10 February 2013; Revised 6 July 2013; Accepted 17 July 2013
Advance online publication 28 August 2013

Top of page

1. Disease characteristics

1.1 Name of the disease (synonyms)

 1. Progressive familial intrahepatic cholestasis type 1 (PFIC1).

 2. FIC1 deficiency.

Initially reported under the names:

 3. Byler disease.

 4. Greenland familial cholestasis.

Byler syndrome refers to normal gamma-glutamyltransferase (GGT) level chronic intrahepatic cholestasis observed in children usually during the first year of life.¹ Later, PFIC1 (Byler disease) and PFIC2 were identified.^{2, 3, 4} The term PFIC1 or FIC1 deficiency should be used preferentially.