Nager Acrofacial Dysostosis

About the Disease
Acrofacial Dysostosis 1, Nager Type, also known as nager syndrome, is related to dysostosis and treacher collins syndrome 1. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b Subunit 4), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and mRNA Splicing - Minor Pathway. The drugs Cimetidine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related phenotypes are hearing impairment and skeletal dysplasia

Common Targets
SF3B4

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