Table 2.

Allelic Disorders

GenePhenotype 1
TREX1 Aicardi-Goutières syndrome 2
Chilblain lupus (OMIM 610448) 2
Susceptibility to systemic lupus erythematosus (OMIM 152700) 2
Scleroderma (systemic sclerosis) [Hughes et al 2017]
1.

See hyperlinked GeneReview, OMIM phenotype entry, or cited reference for more information.

2.

Pathogenic variants typically affect one of three exonuclease domains of TREX1 and lead to a reduced or ablated exonuclease activity [Lehtinen et al 2008].

From: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.