arthrogryposis, renal dysfunction, and cholestasis 1
MONDO:0008822
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.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Arthrogryposis–renal dysfunction–cholestasis syndrome
Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.