TREX1-related type 1 interferonopathy
Go to external page http://purl.obolibrary.org/obo/MONDO_0700256
Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. [ https://clinicalgenome.org/affiliation/40123/ https://clinicalgenome.org/affiliation/40060/ https://clinicalgenome.org/affiliation/40107/ ]
Term information
gard_rare, rare