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arthrogryposis, renal dysfunction, and cholestasis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis, renal dysfunction, and cholestasis 2

MONDO:0013255

Also known as:VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndromearthrogryposis, renal dysfunction, and cholestasis type 2arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39

Overview

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.

GeneticsAutosomal recessive · VIPAS39 (chr 14)

ResearchLimited published research (5 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, Enlarged liver (hepatomegaly), Glycosuria, and Metabolic acidosis and others; and sometimes findings: Nephrogenic diabetes insipidus and Lissencephaly. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Nephrocalcinosis, Renal tubular acidosis, Kidney disease (nephropathy)

Genetic Landscape

VIPAS39 function has not been fully characterized.

Arthrogryposis, renal dysfunction, and cholestasis 2 is caused by mutations in the VIPAS39 gene on chromosome 14.

Diagnosis

Genetic testing for VIPAS39 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present 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 2.

5 publications have been identified in PubMed for arthrogryposis, renal dysfunction, and cholestasis 2. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

Moustafa M (2026). [PMID: 41923461](https://pubmed.ncbi.nlm.nih.gov/41923461/). *Int J Surg Pathol*. [Case Report / Case Series]
Díaz-Ajenjo L (2026). [PMID: 41138802](https://pubmed.ncbi.nlm.nih.gov/41138802/). *J Thromb Haemost*. [Case Report / Case Series]
Yao HHY (2025). [PMID: 39617187](https://pubmed.ncbi.nlm.nih.gov/39617187/). *J Thromb Haemost*. [Review / Meta-Analysis]
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]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613404

GARD

Genetic and Rare Diseases Info Center

GARD:15658

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 2

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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