Acrofacial Dysostosis 1, Nager Type (AFD1)

Alias:

Nager Syndrome

Nager Acrofacial Dysostosis

Afd1

Nafd

Mandibulofacial Dysostosis with Preaxial Limb Anomalies

Acrofacial Dysostosis, Nager Type

Preaxial Acrofacial Dysostosis

Preaxial Acrodysostosis

Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies

Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies

Nager Acrofacial Dysostosis Syndrome

Preaxial Mandibulofacial Dysostosis

Preaxial Manibulofacial Dysostosis

Dysostosis, Acrofacial, Type 1

Afd, Nager Type

Afd Nager Type

Afd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 and eye, and related phenotypes are hearing impairment and skeletal dysplasia

Related ID：

MALACARDS：ACR058

OMIM：154400

MESH：D008342