Wolcott-Rallison syndrome (WRS); multiple epiphyseal dysplasia with early-onset diabetes mellitus

Epidemiology

rare

Genetics

• autosomal recessive disorder
• caused by defects in PERK gene

Clinical manifestations

• permanent neonatal or early infancy insulin-dependent diabetes
• epiphyseal dysplasia
• osteoporosis
• growth retardation
• hepatic impairment
• renal impairment
• mental retardation
• cardiovascular abnormalities.

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• eukaryotic translation initiation factor 2-alpha kinase 3; PRKR-like endoplasmic reticulum kinase; pancreatic eIF2-alpha kinase; HsPEK (EIF2AK3, PEK, PERK)