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arthrogryposis-renal dysfunction-cholestasis syndrome
Pathology:
1) multisystem disorder
2) neurogenic arthrogryposis multiplex congenita
3) renal tubular dysfunction
4) neonatal cholestasis with bile duct hypoplasia
5) platelet dysfunction is common
Genetics:
1) autosomal recessive
2) associated with defects in VPS33B gene
Laboratory:
1) low serum gamma-glutamyltranspeptidase
2) platelet function testing may be abnormal
Related
vacuolar protein sorting-associated protein 33B (VPS33B, hVPS33B)
General
syndrome
Database Correlations
OMIM 208085
References
OMIM :accession 208085