Details of Disease
General Information of Disease (ID: DISCVVSA)
| Disease Name | TREX1-related type 1 interferonopathy | ||||
|---|---|---|---|---|---|
| Definition |
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.
|
||||
| Disease Hierarchy | |||||