Revesz Syndrome (DKCA5)

Revesz Syndrome, also known as exudative retinopathy with bone marrow failure, is related to dyskeratosis congenita, autosomal dominant 1 and cerebellar hypoplasia, and has symptoms including ataxia An important gene associated with Revesz Syndrome is TINF2 (TERF1 Interacting Nuclear Factor 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Homology Directed Repair. The drugs Fludarabine and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are global developmental delay and cerebellar hypoplasia