arthrogryposis, renal dysfunction, and cholestasis 2
Findings
No curated finding names arthrogryposis, renal dysfunction, and cholestasis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene that disrupts vesicle‑trafficking pathways required for apical–basolateral polarity in epithelial tissues. Affected individuals present with congenital joint contractures, renal tubular dysfunction, and neonatal cholestasis, often accompanied by ichthyosis, severe failure to thrive, central nervous system anomalies, and variable platelet abnormalities. The phenotype reflects impaired function of the VIPAR–VPS33B complex in polarized liver and kidney cells, leading to widespread epithelial and secretory dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0013255), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AminoaciduriaHPOHP:0003355
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 1 reported patient
- Cholestatic liver diseaseHPOHP:0002611
- 1 of 1 reported patient
- GlycosuriaHPOHP:0003076
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VIPAS39HGNC:20347
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: arthrogryposis, renal dysfunction, and cholestasis 2
- Also called
- ARCS2arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndromeVIPAS39-related arthrogryposis, renal dysfunction, and cholestasis