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

Epidemiology: rare Genetics: 1) autosomal recessive disorder 2) caused by defects in PERK gene Clinical manifestations: 1) permanent neonatal or early infancy insulin-dependent diabetes 2) epiphyseal dysplasia 3) osteoporosis 4) growth retardation 5) hepatic impairment 6) renal impairment 7) mental retardation 8) cardiovascular abnormalities.

Related

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

General

genetic syndrome (multisystem disorder)

References

  1. UniProt :accession Q9NZJ5
  2. OMIM :accession 226980