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Wolcott-Rallison syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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