Cholestasis, Progressive Familial Intrahepatic, 2

Alternative Names

  • PFIC2
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WHO-ICD-10 version:2010

Diseases of the digestive system

Diseases of liver

OMIM Number

601847

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q31.1

Description

Progressive familial intrahepatic cholestasis-2 (PFIC2) is an autosomal recessive disorder characterized by progressive liver disease with impairment of bile flow, but without hepatobiliary structural abnormality. Patients have amorphous or finely filamentous bile and nonspecific giant cell hepatitis on presentation. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
601847.1United Arab EmiratesNM_003742.4:c.1897A>CHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014
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