Details of Disease | DrugMAP

General Information of Disease (ID: DISXFTYQ)

Disease Name	Orofacial cleft 6, susceptibility to
Synonyms	cleft lip with or without cleft palate, nonsyndromic, 6; OFC6; susceptibility to orofacial cleft 6; orofacial cleft 6; IRF6 orofacial cleft; orofacial cleft 6, susceptibility to; orofacial cleft caused by mutation in IRF6
Definition	Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISXFTYQ: Orofacial cleft 6, susceptibility to
Disease Identifiers	MONDO ID MONDO_0012141 UMLS CUI C1837213 OMIM ID 608864 MedGen ID 332391

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
IRF6	OTKJ44EV	Limited	Unknown	[1]
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References

1	The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa. Mol Genet Genomic Med. 2017 Jan 12;5(2):164-171. doi: 10.1002/mgg3.273. eCollection 2017 Mar.