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VPS33B-sEDD

Previously: Arthrogryposis, renal dysfunction, and cholestasis 1 (ARC1)

sEDD Gene: VPS33B 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

Gruber R, Rogerson C, Windpassinger C et al. Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome is caused by VPS33B mutations affecting Rab protein interaction and collagen modification. J Invest Dermato/2017; 137:845-54. || Gissen P, Johnson CA, Morgan NV et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004; 36:400-4.

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