Details of Disease

General Information of Disease (ID: DISO5G3Z)

Disease Name Orofacial cleft 10
Synonyms
cleft lip with or without cleft palate, nonsyndromic, 10; OFC10; orofacial cleft caused by mutation in SUMO1; orofacial cleft type 10; orofacial cleft 10, isolated cases; SUMO1 orofacial cleft; orofacial cleft 10
Definition Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.
Disease Hierarchy
DIST1HG6: Orofacial cleft
DIS14IG3: Cleft lip/palate
DISO5G3Z: Orofacial cleft 10
Disease Identifiers
MONDO ID
MONDO_0013378
MESH ID
C566605
UMLS CUI
C1866070
OMIM ID
613705
MedGen ID
355621

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
SUMO1 OTJFD4P5 Limited Unknown [1]
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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.