Details of Disease

General Information of Disease (ID: DISD651B)

Disease Name Cleft lip and alveolus
Definition Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DIST1HG6: Orofacial cleft
DISD651B: Cleft lip and alveolus
Disease Identifiers
MONDO ID
MONDO_0015420
UMLS CUI
C1298692
MedGen ID
720590
Orphanet ID
141291
SNOMED CT ID
373643003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IRF6 OTKJ44EV Strong SusceptibilityMutation [1]
NECTIN1 OTTE5ZR6 Strong SusceptibilityMutation [2]
TP63 OT0WOOKQ Strong SusceptibilityMutation [3]
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References

1 Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.Genet Med. 2007 Apr;9(4):219-27. doi: 10.1097/gim.0b013e3180423cca.
2 Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.Ann Hum Genet. 2006 May;70(Pt 3):410-3. doi: 10.1111/j.1529-8817.2005.00237.x.
3 Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.Am J Med Genet A. 2011 Jun;155A(6):1432-6. doi: 10.1002/ajmg.a.34011. Epub 2011 May 12.