KEGG   DISEASE: Wolcott-Rallison 症候群
エントリ  
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
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
   糖尿病
    5A13  糖尿病, その他の明示された型
     H00766  Wolcott-Rallison 症候群
パスウェイ 
hsa04141  Protein processing in endoplasmic reticulum
病因遺伝子 
EIF2AK3 [HSA:9451] [KO:K08860]
リンク   
ICD-11: 5A13.6
MeSH: C536739
OMIM: 226980
文献    
  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
文献    
  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
文献    
  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
LinkDB    

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