Wolcott-Rallison syndrome [Supplementary Concept]

A rare hereditary autosomal recessive disorder characterized by permanent neonatal or early infancy type 1 diabetes mellitus. Epiphyseal dysplasia, OSTEOPOROSIS, and growth retardation develop at a later age. Affected individuals may also present with LIVER DISEASE; KIDNEY DISEASE; INTELLECTUAL DISABILITY, and CARDIOVASCULAR ABNORMALITIES. Mutations in the EIF2AK3 gene have been identified. OMIM: 226980

Date introduced: August 25, 2010

MeSH Unique ID: C536739

Heading Mapped to:

• Diabetes Mellitus, Type 1
• Epiphyses/abnormalities
• Osteochondrodysplasias

Entry Terms:

• Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
• MED-IDDM syndrome
• IDDM-MED syndrome