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Article

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

Italian journal of pediatrics - 20 Sept 2014

Zhou Yaoyao, Zhang Junfeng

Abstract excerpt

UNLABELLED: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure...

Topics

Arthrogryposis
Cholestasis
DNA
DNA Mutational Analysis
Humans
Molecular Biology
Mutation
Phenotype
Renal Insufficiency
Vesicular Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25239142
DOI: 10.1186/s13052-014-0077-3
PMCID: PMC4422138

Genes

ARC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.PMID 25239142Read ↗

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Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation.Semantic proximity Read ↗

ARC syndrome.Semantic proximity Read ↗

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Clinical characteristics and VPS33B mutations in patients with ARC syndrome.Semantic proximity Read ↗

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VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.Semantic proximity Read ↗

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Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndromeSemantic proximity Read ↗

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