| H00766 | |
| H番号 | H00766 |
| 名称 | Wolcott-Rallison 症候群 |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | EIF2AK3 [HSA:9451] [KO:K08860] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A13.6 ICD-10: E13 MeSH: C536739 OMIM: 226980 |
| 文献 | PMID:21050479 著者 Julier C, Nicolino M タイトル Wolcott-Rallison syndrome. 雑誌 Orphanet J Rare Dis 5:29 (2010) DOI:10.1186/1750-1172-5-29 PMID:15384883 著者 Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG タイトル Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. 雑誌 Acta Paediatr 93:1195-201 (2004) DOI:10.1111/j.1651-2227.2004.tb02748.x PMID:12960215 著者 Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA タイトル Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. 雑誌 J Med Genet 40:685-9 (2003) DOI:10.1136/jmg.40.9.685 |