KEGG   DISEASE: 脳白質萎縮症を伴う網膜脈管障害
エントリ  
H01000                                                             
名称    
脳白質萎縮症を伴う網膜脈管障害
概要    
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal and cerebral dysfunction. Death occurs in most cases within 10 years of the first symptoms appearing. The disease-causing mutations of TREX1 lead to truncation and abnormal localization of the 3'-5' exonuclease.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  眼球後極部の疾患
   網膜の疾患
    9B78  明示された網膜の疾患
     H01000  脳白質萎縮症を伴う網膜脈管障害
パスウェイに基づく疾患分類 [BR:jp08402]
 免疫系
  nt06520  CGAS-STING シグナリング
   H01000  脳白質萎縮症を伴う網膜脈管障害
パスウェイ 
hsa04623  Cytosolic DNA-sensing pathway
ネットワーク
nt06520 CGAS-STING signaling
病因遺伝子 
TREX1 [HSA:11277] [KO:K10790]
リンク   
ICD-11: 9B78.0
MeSH: C566007
OMIM: 192315
文献    
  著者
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schafer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP
  タイトル
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
  雑誌
Nat Genet 39:1068-70 (2007)
DOI:10.1038/ng2082
文献    
  著者
Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW
  タイトル
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
  雑誌
J Biol Chem 283:31649-56 (2008)
DOI:10.1074/jbc.M806155200
文献    
  著者
Stetson DB, Ko JS, Heidmann T, Medzhitov R
  タイトル
Trex1 prevents cell-intrinsic initiation of autoimmunity.
  雑誌
Cell 134:587-98 (2008)
DOI:10.1016/j.cell.2008.06.032
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