KEGG   DISEASE: Retinal vasculopathy with cerebral leukodystrophy
H01000                      Disease                                

Retinal vasculopathy with cerebral leukodystrophy
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.
Nervous system disease
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
hsa04623  Cytosolic DNA-sensing pathway
TREX1 [HSA:11277] [KO:K10790]
Other DBs
ICD-11: 9B78.0
MeSH: C566007
OMIM: 192315
PMID:17660820 (gene, descrition)
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
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Nat Genet 39:1068-70 (2007)
Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
J Biol Chem 283:31649-56 (2008)
Stetson DB, Ko JS, Heidmann T, Medzhitov R
Trex1 prevents cell-intrinsic initiation of autoimmunity.
Cell 134:587-98 (2008)

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