| H00766 | |
| H number | H00766 |
| Name | Wolcott-Rallison syndrome |
| Description | Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during the first months of life in most patients and major skeletal manifestations include the long bones, pelvis and vertebrae. Liver is also affected in the disease. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | EIF2AK3 [HSA:9451] [KO:K08860] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A13.6 ICD-10: E13 MeSH: C536739 OMIM: 226980 |
| Reference | PMID:21050479 AUTHORS Julier C, Nicolino M TITLE Wolcott-Rallison syndrome. JOURNAL Orphanet J Rare Dis 5:29 (2010) DOI:10.1186/1750-1172-5-29 PMID:15384883 AUTHORS Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG TITLE Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. JOURNAL Acta Paediatr 93:1195-201 (2004) DOI:10.1111/j.1651-2227.2004.tb02748.x PMID:12960215 AUTHORS Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA TITLE Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. JOURNAL J Med Genet 40:685-9 (2003) DOI:10.1136/jmg.40.9.685 |