MeSH Browser

MeSH Supplementary: Wolcott-Rallison syndrome
Unique ID: C536739
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536739
Entry Term(s): Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus; IDDM-MED syndrome; MED-IDDM syndrome
Heading Mapped to: *Diabetes Mellitus, Type 1; Epiphyses / abnormalities; *Osteochondrodysplasias
Frequency: 53
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Wolcott-Rallison syndrome MeSH Supplementary Concept Data 2024