KEGG   DISEASE: Retinal vasculopathy with cerebral leukodystrophy
Entry
H01000                      Disease                                

Name
Retinal vasculopathy with cerebral leukodystrophy
Description
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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01000  Retinal vasculopathy with cerebral leukodystrophy
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B78  Certain specified retinal disorders
     H01000  Retinal vasculopathy with cerebral leukodystrophy
Pathway
hsa04623  Cytosolic DNA-sensing pathway
Gene
TREX1 [HSA:11277] [KO:K10790]
Other DBs
ICD-11: 9B78.0
MeSH: C566007
OMIM: 192315
Reference
PMID:17660820 (gene, descrition)
  Authors
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
  Title
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
  Journal
Nat Genet 39:1068-70 (2007)
DOI:10.1038/ng2082
Reference
  Authors
Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW
  Title
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
  Journal
J Biol Chem 283:31649-56 (2008)
DOI:10.1074/jbc.M806155200
Reference
  Authors
Stetson DB, Ko JS, Heidmann T, Medzhitov R
  Title
Trex1 prevents cell-intrinsic initiation of autoimmunity.
  Journal
Cell 134:587-98 (2008)
DOI:10.1016/j.cell.2008.06.032
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