Details of Disease

General Information of Disease (ID: DISXTTL9)

Disease Name Facial cleft
Synonyms prosoposchisis; craniofacial cleft; cleft face
Definition A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.
Disease Hierarchy
DIS7GG31: Developmental defect during embryogenesis
DISWKYNJ: Disorder of facial skeleton
DISXTTL9: Facial cleft
Disease Identifiers
MONDO ID
MONDO_0015411
UMLS CUI
C0685787
MedGen ID
146898
HPO ID
HP:0002006
Orphanet ID
141229
SNOMED CT ID
764517009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SERPINA6 TTJL8VG Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPECC1L OT3WGZ73 moderate Biomarker [2]
IRF6 OTKJ44EV Strong Biomarker [3]
------------------------------------------------------------------------------------

References

1 Polymorphisms of stress-related genes and the risk of nonsyndromic cleft lip with or without cleft palate.Birth Defects Res A Clin Mol Teratol. 2011 Nov;91(11):948-55. doi: 10.1002/bdra.20843. Epub 2011 Aug 24.
2 Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.Plast Reconstr Surg. 2014 Oct;134(4):748-759. doi: 10.1097/PRS.0000000000000517.
3 A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.BMC Med Genet. 2013 Mar 20;14:37. doi: 10.1186/1471-2350-14-37.