DISEASES

Disease-gene associations mined from literature

Human genes for ARC syndrome

ARC syndrome [DOID:0050763]

A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. It has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.

Synonyms:  ARC syndrome,  ARC disease,  ARC disorder,  ARC syndromes,  DOID:0050763 ...