Disease

ARC syndrome

Definition
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 and that 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
  • Arthrogryposis-renal dysfunction-cholestasis
  • Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
Cross References
Parent Terms
Child Terms
Sources of Associations

Associated Genes

Associated Alleles

Associated Models