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arthrogryposis, renal dysfunction, and cholestasis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis, renal dysfunction, and cholestasis 1

MONDO:0008822

Also known as:VPS33B arthrogryposis-renal dysfunction-cholestasis syndromearthrogryposis, renal dysfunction, and cholestasis type 1arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B

Overview

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.

GeneticsAutosomal recessive · VPS33B (chr 15)

OnsetCONGENITAL

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Aminoaciduria, Renal tubular acidosis, Jaundice, and Conjugated hyperbilirubinemia; and very common findings: Joint stiffness present at birth (arthrogryposis multiplex congenita). 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6	Nephrocalcinosis, Renal tubular acidosis, Kidney disease (nephropathy)

Genetic Landscape

VPS33B function has not been fully characterized.

Arthrogryposis, renal dysfunction, and cholestasis 1 is caused by mutations in the VPS33B gene on chromosome 15.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for VPS33B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for arthrogryposis, renal dysfunction, and cholestasis 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for arthrogryposis, renal dysfunction, and cholestasis 1.

6 publications have been identified in PubMed for arthrogryposis, renal dysfunction, and cholestasis 1. Research spans Case Report / Case Series (67%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

Díaz-Ajenjo L (2026). [PMID: 41138802](https://pubmed.ncbi.nlm.nih.gov/41138802/). *J Thromb Haemost*. [Case Report / Case Series]
Moustafa M (2026). [PMID: 41923461](https://pubmed.ncbi.nlm.nih.gov/41923461/). *Int J Surg Pathol*. [Case Report / Case Series]
Darouich S (2025). [PMID: 39856600](https://pubmed.ncbi.nlm.nih.gov/39856600/). *Pediatr Dev Pathol*. [Case Report / Case Series]
Kafol J (2024). [PMID: 39736737](https://pubmed.ncbi.nlm.nih.gov/39736737/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Rehman R (2024). [PMID: 38698876](https://pubmed.ncbi.nlm.nih.gov/38698876/). *Clin Case Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208085

GARD

Genetic and Rare Diseases Info Center

GARD:15139

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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arthrogryposis, renal dysfunction, and cholestasis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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