Details of Disease

General Information of Disease (ID: DIS91YJ3)

Disease Name Acrofacial dysostosis Cincinnati type
Synonyms AFDCIN; acrofacial dysostosis, Cincinnati type; POLR1A acrofacial dysostosis; acrofacial dysostosis caused by mutation in POLR1A
Definition Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.
Disease Hierarchy
DISNBM5T: Acrofacial dysostosis
DIS91YJ3: Acrofacial dysostosis Cincinnati type
Disease Identifiers
MONDO ID
MONDO_0014651
UMLS CUI
C4225317
OMIM ID
616462
MedGen ID
903483

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POLR1A OTDWI0TG Strong Autosomal dominant [1]
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References

1 Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 7;96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23.