Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.

doi:10.1007/s00431-026-07403-6

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Article

Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.

European journal of pediatrics - 18 Sept 2026

Lin Hui, Peng Xiao-Rong, Qin Xiao-Mei, Zhang Hai-Ming, Pan Xiang, Lin Wei-Xia, Chen Rong, Zhu Shi-Shu, Xiong Fu, Huang Xiao-Ling, Zhu Zhi-Jun, Ouyang Wen-Xian, Xu Hong-Mei, Song Yuan-Zong

Abstract excerpt

Progressive familial intrahepatic cholestasis type 1 (PFIC1) is a rare genetic disorder caused by variants in ATP8B1. The aim of this study was to characterize the clinical and genetic spectrum of PFIC1 and to investigate genotype-phenotype correlations in affected individuals. Clinical manifestations and laboratory findings from 15 newly identified individuals with PFIC1, together with data from 70 previously...

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Topics

Humans
Cholestasis, Intrahepatic
Female
Infant
Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genetic Association Studies

Child, Preschool

Male

Child

Phenotype

Ursodeoxycholic Acid

Liver Transplantation

Mutation

Source

Open in PubMed

Identifiers

PMID: 42760445
DOI: 10.1007/s00431-026-07403-6

Genes

ATP8B1

Provenance

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