VPS16-related disorder is a rare autosomal recessive multisystem disease resembling mucopolysaccharidosis-plus syndrome. It is caused by biallelic pathogenic variants in VPS16, a gene encoding a core component of the HOPS/CORVET tethering complexes involved in endolysosomal and autophagosomal fusion. Note that there is also an autosomal dominant disorder caused by VPS16variants, resulting in dystonia and other neurological features, which is not mentioned on this page.
Inheritance: Autosomal recessive
Prevalence: Extremely rare; only a few families reported worldwide
Main features: Coarse facial features, short stature, developmental delay, congenital neutropenia, peripheral neuropathy, skeletal dysplasia, splenomegaly, chronic liver disease, and mildly increased urinary glycosaminoglycans.
VPS16 autosomal recessive