KEGG   DISEASE: ウォルフラム症候群
エントリ  
H00854                                                             
名称    
ウォルフラム症候群
  下位グループ
常染色体優性遺伝性ウォルフラム様症候群 (WFSL)
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   下垂体ホルモン系の疾患
    5A61  下垂体機能低下症またはその他の明示された下垂体の疾患
     H00854  ウォルフラム症候群
指定難病 [jp08407.html]
 H00854
パスウェイ 
hsa04141  Protein processing in endoplasmic reticulum
病因遺伝子 
(WFS1/WFSL) WFS1 [HSA:7466] [KO:K14020]
(WFS2) CISD2 [HSA:493856] [KO:K23882]
リンク   
ICD-11: 5A61.5
MeSH: D014929
OMIM: 222300 604928 614296
文献    
  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
文献    
PMID:20738327 (WFS1)
  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
文献    
PMID:20649540 (WFS2)
  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
文献    
PMID:16648378 (WFSL)
  著者
Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L
  タイトル
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
  雑誌
J Med Genet 43:435-40 (2006)
DOI:10.1136/jmg.2005.034892
LinkDB    

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