| H00854 | |
| H番号 | H00854 |
| 名称 | ウォルフラム症候群 |
| 概要 | Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, and resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic reticulum. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | (WFS1) WFS1 [HSA:7466] [KO:K14020] (WFS2) CISD2 [HSA:493856] [KO:K23882] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A61.5 ICD-10: E13.8 MeSH: D014929 OMIM: 222300 604928 |
| 文献 | PMID:15070927 著者 Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G タイトル Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. 雑誌 J Clin Endocrinol Metab 89:1656-61 (2004) DOI:10.1210/jc.2002-030015 PMID:20649540 著者 Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF タイトル A role for the CISD2 gene in lifespan control and human disease. 雑誌 Ann N Y Acad Sci 1201:58-64 (2010) DOI:10.1111/j.1749-6632.2010.05619.x PMID:20738327 著者 Rigoli L, Lombardo F, Di Bella C タイトル Wolfram syndrome and WFS1 gene. 雑誌 Clin Genet 79:103-17 (2011) DOI:10.1111/j.1399-0004.2010.01522.x |