| H00516 | |
| H number | H00516 |
| Name | Cleft lip and/or cleft palate |
| Description | Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome or in the absence of other defects. A large fraction of clefts occurs without other defects and is termed isolated orofacial clefts. |
| Category | Congenital malformation |
| Network | - |
| Gene | (OFC5) MSX1 [HSA:4487] [KO:K09341] (OFC6) IRF6 [HSA:3664] [KO:K10154] (OFC7) NECTIN1 [HSA:5818] [KO:K06081] (OFC8/RHS) TP63 [HSA:8626] [KO:K10149] (OFC10) SUMO1 [HSA:7341] [KO:K12160] (OFC11) BMP4 [HSA:652] [KO:K04662] (OFC15) DLX4 [HSA:1748] [KO:K09314] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA40 LA41 LA42 ICD-10: Q37 MeSH: D002972 OMIM: 119530 608874 608864 225060 618149 129400 613705 600625 616788 |
| Reference | PMID:11753106 AUTHORS Spritz RA TITLE The genetics and epigenetics of orofacial clefts. JOURNAL Curr Opin Pediatr 13:556-60 (2001) DOI:10.1097/00008480-200112000-00011 PMID:19583827 AUTHORS Jugessur A, Farlie PG, Kilpatrick N TITLE The genetics of isolated orofacial clefts: from genotypes to subphenotypes. JOURNAL Oral Dis 15:437-53 (2009) DOI:10.1111/j.1601-0825.2009.01577.x PMID:19186243 AUTHORS Gritli-Linde A TITLE The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models. JOURNAL Curr Top Dev Biol 84:37-138 (2008) DOI:10.1016/S0070-2153(08)00602-9 PMID:12807959 (OFC5) AUTHORS Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC TITLE Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. JOURNAL J Med Genet 40:399-407 (2003) DOI:10.1136/jmg.40.6.399 PMID:18836445 (OFC6) AUTHORS Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC TITLE Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. JOURNAL Nat Genet 40:1341-7 (2008) DOI:10.1038/ng.242 PMID:11559849 (OFC7) AUTHORS Sozen MA, Suzuki K, Tolarova MM, Bustos T, Fernandez Iglesias JE, Spritz RA TITLE Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. JOURNAL Nat Genet 29:141-2 (2001) DOI:10.1038/ng740 PMID:16740912 (OFC8) AUTHORS Leoyklang P, Siriwan P, Shotelersuk V TITLE A mutation of the p63 gene in non-syndromic cleft lip. JOURNAL J Med Genet 43:e28 (2006) DOI:10.1136/jmg.2005.036442 PMID:12766194 (RHS) AUTHORS Kantaputra PN, Hamada T, Kumchai T, McGrath JA TITLE Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. JOURNAL J Dent Res 82:433-7 (2003) DOI:10.1177/154405910308200606 PMID:16990542 (OFC10) AUTHORS Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL TITLE SUMO1 haploinsufficiency leads to cleft lip and palate. JOURNAL Science 313:1751 (2006) DOI:10.1126/science.1128406 PMID:19249007 (OFC11) AUTHORS Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC TITLE Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. JOURNAL Am J Hum Genet 84:406-11 (2009) DOI:10.1016/j.ajhg.2009.02.002 PMID:25954033 (OFC15) AUTHORS Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM TITLE DLX4 is associated with orofacial clefting and abnormal jaw development. JOURNAL Hum Mol Genet 24:4340-52 (2015) DOI:10.1093/hmg/ddv167 |