KEGG DISEASE: Retinal vasculopathy with cerebral leukodystrophy

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 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-based classification of diseases [BR:br08402]
Immune system
  nt06520  CGAS-STING signaling
   H01000  Retinal vasculopathy with cerebral leukodystrophy

Pathway

Cytosolic DNA-sensing pathway

Network

nt06520 CGAS-STING signaling

Gene

TREX1 [HSA:11277] [KO:K10790]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

LinkDB

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