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Article

Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene.

BMC pediatrics - 27 Oct 2025

Belhadj Rim, Maaloul Ines, Besghaier Wissem, Kolsi Roeya, Sabaouni Naoual, Broly Frank, Kamoun Thouraya

Abstract excerpt

Progressive familial intrahepatic cholestasis type 5 is a rare cause of neonatal cholestasis with low-to-normal levels of gamma-glutamyl transpeptidase. It is caused by mutations in the NR1H4 gene, which encodes farnesoid X receptor, an important transcription factor for bile formation. It also plays an essential role in biliary acid homeostasis. It is known to have a severe course with a rapid progression to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41146118
DOI: 10.1186/s12887-025-05980-3
PMCID: PMC12560460

Genes

NR1H4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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