Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

doi:10.1038/ng1325

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Back to search

Article

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Nature genetics - 1 Apr 2004

Gissen Paul, Johnson Colin A, Morgan Neil V, Stapelbroek Janneke M, Forshew Tim, Cooper Wendy N, McKiernan Patrick J, Klomp Leo W J, Morris Andrew A M, Wraith James E, McClean Patricia, Lynch Sally A, Thompson Richard J, Lo Bryan, Quarrell Oliver W, Di Rocco Maja, Trembath Richard C, Mandel Hanna, Wali S, Karet Fiona E, Knisely A S, Houwen Roderick H J, Kelly Deirdre A, Maher Eamonn R

Abstract excerpt

ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity. Platelet dysfunction is common. Affected infants do not thrive and usually die in the first year of life. To elucidate the molecular basis of ARC,...

Topics

Arthrogryposis
Blotting, Western
Cell Line
Cholestasis
Chromosomes, Human, Pair 15
Electrophoresis, Polyacrylamide Gel
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kidney Diseases

Male

Membrane Fusion

Membrane Proteins

Mutation

Plasmids

Proteins

SNARE Proteins

Syndrome

Vesicular Transport Proteins

Source

Open in PubMed

Identifiers

PMID: 15052268
DOI: 10.1038/ng1325

Genes

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.PMID 15052268Read ↗

Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.Semantic proximity Read ↗

ARC syndrome.Semantic proximity Read ↗

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 ↗

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndromeSemantic proximity Read ↗

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

A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.Semantic proximity Read ↗

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

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

Clinical and molecular genetic features of ARC syndrome.Semantic proximity Read ↗

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.Semantic proximity Read ↗

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.Semantic proximity Read ↗

One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.