TREX1-related type 1 interferonopathy

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.

17 clinical trials for this condition and its sub-types, 0 tagged with TREX1-related type 1 interferonopathy itself.

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Part of

↑ Hereditary disorder of connective tissue (1311) ↑ Type 1 interferonopathy (21)

Sub-types of TREX1-related type 1 interferonopathy

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 3 trials
Aicardi-Goutieres syndrome 1 2 trials
1 sub-type
- TREX1-related autosomal dominant Aicardi-Goutieres syndrome 0 trials
Chilblain lupus 1 0 trials

Including sub-types (17) Tagged with TREX1-related type 1 interferonopathy (0)

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