Hoyeraal-Hreidarsson Syndrome

About the Disease
Dyskeratosis Congenita, X-Linked, also known as x-linked dyskeratosis congenita, is related to dyskeratosis congenita autosomal recessive and revesz syndrome, and has symptoms including onychomadesis An important gene associated with Dyskeratosis Congenita, X-Linked is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and Regulation of expression of SLITs and ROBOs. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and bone, and related phenotypes are ataxia and cerebellar hypoplasia

Common Targets
G7015 | PARN

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