arthrogryposis, renal dysfunction, and cholestasis 1
Findings
No curated finding names arthrogryposis, renal dysfunction, and cholestasis 1 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 VPS33B gene that disrupts apical–basolateral polarity and vesicle‑trafficking pathways essential for normal liver, kidney, and skin function. Affected individuals present with congenital joint contractures, renal tubular dysfunction, and neonatal cholestasis with low GGT, accompanied by ichthyosis, severe failure to thrive, central nervous system malformations, and platelet α‑granule defects. The condition is severe and often lethal in infancy, reflecting profound epithelial and secretory dysfunction across multiple organs.
Definition from the Mondo Disease Ontology (MONDO:0008822), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
21 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
- 62 of 62 reported patients
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 62 of 62 reported patients
- JaundiceHPOHP:0000952
- 62 of 62 reported patients
- Renal tubular acidosisHPOHP:0001947
- 62 of 62 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 60 of 62 reported patients
- Giant cell hepatitisHPOHP:0200084
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.
- VPS33BHGNC:12712
- Definitive · ClinGen · Autosomal recessive · 2021
- 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 1
- Also called
- ARCS1arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33BVPS33B arthrogryposis-renal dysfunction-cholestasis syndromeVPS33B-related arthrogryposis, renal dysfunction, and cholestasis