Details of Disease

General Information of Disease (ID: DIST1HG6)

Disease Name Orofacial cleft
Definition Editor notes: most subtypes are isolated
Disease Hierarchy
DISYKSRF: Genetic disease
DISWKYNJ: Disorder of facial skeleton
DIST1HG6: Orofacial cleft
Disease Identifiers
MONDO ID
MONDO_0000358
UMLS CUI
C3266076
MedGen ID
472000
HPO ID
HP:0000202
SNOMED CT ID
449790007

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
TFAP2A TTDY4BS Strong Biomarker [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
NAT1 DE7OAB3 Disputed Biomarker [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FOXE1 OT5IR5IT Strong Genetic Variation [3]
GRHL3 OT1V4ZEH Strong Biomarker [4]
MSX1 OT5U41ZP Strong Biomarker [5]
PNRC1 OTQMLEE1 Strong Genetic Variation [6]
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References

1 Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage.Dis Model Mech. 2015 Jan;8(1):31-43. doi: 10.1242/dmm.017616. Epub 2014 Nov 7.
2 Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphisms.Epidemiology. 2004 Mar;15(2):150-6. doi: 10.1097/01.ede.0000112214.33432.cc.
3 FOXE1 polymorphisms and non-syndromic orofacial cleft susceptibility in a Chinese Han population.Oral Dis. 2016 May;22(4):274-9. doi: 10.1111/odi.12435. Epub 2016 Jan 20.
4 Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19.
5 Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development.Nat Genet. 1994 Apr;6(4):348-56. doi: 10.1038/ng0494-348.
6 Association analysis of the poliovirus receptor related-2 gene in patients with nonsyndromic cleft lip with or without cleft palate.DNA Cell Biol. 2010 Nov;29(11):681-5. doi: 10.1089/dna.2010.1061. Epub 2010 Jul 27.