Details of Disease | DrugMAP

General Information of Disease (ID: DISXH76T)

Disease Name	Orofacial cleft 5
Synonyms	OFC5; cleft lip with or without cleft palate, nonsyndromic, 5; MSX1 orofacial cleft; orofacial cleft type 5; orofacial cleft 5; orofacial cleft caused by mutation in MSX1
Definition	Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.
Disease Hierarchy	DISD651B: Cleft lip and alveolus DIST1HG6: Orofacial cleft DIS2O2JV: Isolated cleft lip DIS14IG3: Cleft lip/palate DISXH76T: Orofacial cleft 5
Disease Identifiers	MONDO ID MONDO_0012142 MESH ID C563843 UMLS CUI C1837210 OMIM ID 608874 MedGen ID 373280

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUMO1	OTJFD4P5	Limited	Autosomal dominant	[1]
MSX1	OT5U41ZP	Definitive	Autosomal dominant	[2]
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References

1	SUMO1 haploinsufficiency leads to cleft lip and palate. Science. 2006 Sep 22;313(5794):1751. doi: 10.1126/science.1128406.
2	In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med. 2004 May-Jun;6(3):117-25. doi: 10.1097/01.gim.0000127275.52925.05.