Hoyeraal-Hreidarsson Syndrome

Hoyeraal-Hreidarsson Syndrome, also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome, is related to dyskeratosis congenita, autosomal dominant 1 and dyskeratosis congenita, x-linked. An important gene associated with Hoyeraal-Hreidarsson Syndrome is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are Cell Cycle, Mitotic and Overview of interferons-mediated signaling pathway. 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 intellectual disability and failure to thrive