KEGG   DISEASE: Cleft lip and/or cleft palate
Entry
H00516                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of face and neck
   H00516  Cleft lip and/or cleft palate
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    Clefts of lip, alveolus or palate
     LA40  Cleft lip
      H00516  Cleft lip and/or cleft palate
     LA41  Cleft lip and alveolus
      H00516  Cleft lip and/or cleft palate
     LA42  Cleft palate
      H00516  Cleft lip and/or cleft palate
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]
Other DBs
ICD-11: LA40 LA41 LA42
ICD-10: Q37
MeSH: D002972
OMIM: 119530 608874 608864 225060 618149 129400 613705 600625 616788
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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