| H00516 | |
| H番号 | H00516 |
| 名称 | 口唇口蓋裂 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA40 LA41 LA42 ICD-10: Q37 MeSH: D002972 OMIM: 119530 608874 608864 225060 618149 129400 613705 600625 616788 |
| 文献 | PMID:11753106 著者 Spritz RA タイトル The genetics and epigenetics of orofacial clefts. 雑誌 Curr Opin Pediatr 13:556-60 (2001) DOI:10.1097/00008480-200112000-00011 PMID:19583827 著者 Jugessur A, Farlie PG, Kilpatrick N タイトル The genetics of isolated orofacial clefts: from genotypes to subphenotypes. 雑誌 Oral Dis 15:437-53 (2009) DOI:10.1111/j.1601-0825.2009.01577.x PMID:19186243 著者 Gritli-Linde A タイトル The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models. 雑誌 Curr Top Dev Biol 84:37-138 (2008) DOI:10.1016/S0070-2153(08)00602-9 PMID:12807959 (OFC5) 著者 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 タイトル Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 雑誌 J Med Genet 40:399-407 (2003) DOI:10.1136/jmg.40.6.399 PMID:18836445 (OFC6) 著者 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 タイトル Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 雑誌 Nat Genet 40:1341-7 (2008) DOI:10.1038/ng.242 PMID:11559849 (OFC7) 著者 Sozen MA, Suzuki K, Tolarova MM, Bustos T, Fernandez Iglesias JE, Spritz RA タイトル Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. 雑誌 Nat Genet 29:141-2 (2001) DOI:10.1038/ng740 PMID:16740912 (OFC8) 著者 Leoyklang P, Siriwan P, Shotelersuk V タイトル A mutation of the p63 gene in non-syndromic cleft lip. 雑誌 J Med Genet 43:e28 (2006) DOI:10.1136/jmg.2005.036442 PMID:12766194 (RHS) 著者 Kantaputra PN, Hamada T, Kumchai T, McGrath JA タイトル Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 雑誌 J Dent Res 82:433-7 (2003) DOI:10.1177/154405910308200606 PMID:16990542 (OFC10) 著者 Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL タイトル SUMO1 haploinsufficiency leads to cleft lip and palate. 雑誌 Science 313:1751 (2006) DOI:10.1126/science.1128406 PMID:19249007 (OFC11) 著者 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 タイトル Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. 雑誌 Am J Hum Genet 84:406-11 (2009) DOI:10.1016/j.ajhg.2009.02.002 PMID:25954033 (OFC15) 著者 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 タイトル DLX4 is associated with orofacial clefting and abnormal jaw development. 雑誌 Hum Mol Genet 24:4340-52 (2015) DOI:10.1093/hmg/ddv167 |