Back to Database

VIPAS39-sEDD

Previously: Arthrogryposis, renal dysfunction, and cholestasis 2 (ARC2)

sEDD Gene: VIPAS39 AR

Onset: Usually birth

Pathway: Membrane sorting/vesicular trafficking

Category Paper: sEDD Paper

Key Clinical Clues

Fine scaling in combination with cholestasis, metabolic acidosis, renal tubular degeneration.

Additional Cutaneous Features

Variable scaling, sometimes accentuated over joints; PPK; mild scarring alopecia; ectropion.

Additional Extracutaneous Features

Arthrogryposis (wrist, knee, hip), renal tubular degeneration/proteinuria, metabolic acidosis; hepatic dysfunction with cholestasis; failure to thrive, deafness, platelet dysfunction, brain malformation; often die in childhood.

References

Cullinane AR, Straatman-Iwanowska A, Zaucker A et al. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet 2010; 42:303-12.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer