KEGG   DISEASE: H00516Help
Entry
H00516                      Disease                                

Name
Isolated orofacial clefts, including:
Cleft lip with or without cleft palate;
Cleft palate
Description
Cleft lip and/or cleft palate 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
Developmental disorder
BRITE hierarchy
Gene
IRF6 [HSA:3664] [KO:K10154]
MSX1 [HSA:4487] [KO:K09341]
FGFR1 [HSA:2260] [KO:K04362]
PVRL1 [HSA:5818] [KO:K06081]
TP63 [HSA:8626] [KO:K10149]
TBX22 [HSA:50945] [KO:K10186]
TGFA [HSA:7039] [KO:K08774]
TGFB3 [HSA:7043] [KO:K13377]
MTHFR [HSA:4524] [KO:K00297]
RARA [HSA:5914] [KO:K08527]
GSTT1 [HSA:2952] [KO:K00799]
EPHX1 [HSA:2052] [KO:K01253]
SUMO1 [HSA:7341] [KO:K12160]
BMP4 [HSA:652] [KO:K04662]
Env factor
Phenytoin [CPD:C07443]
Valproic acid [CPD:C07185]
Alcohol [CPD:C00469]
Cigarette smoke
Altitude
Folic acid [CPD:C00504]
Retinoic acid [CPD:C00777]
Corticosteroids
Other DBs
Reference
PMID:11753106 (gene)
  Authors
Spritz RA
  Title
The genetics and epigenetics of orofacial clefts.
  Journal
Curr Opin Pediatr 13:556-60 (2001)
Reference
PMID:19583827 (gene)
  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)
Reference
PMID:19186243 (gene)
  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)
Reference
PMID:15917202 (gene, env_factor)
  Authors
Jugessur A, Murray JC
  Title
Orofacial clefting: recent insights into a complex trait.
  Journal
Curr Opin Genet Dev 15:270-8 (2005)
Reference
PMID:12030886 (gene, env_factor)
  Authors
Murray JC
  Title
Gene/environment causes of cleft lip and/or palate.
  Journal
Clin Genet 61:248-56 (2002)
Reference
PMID:15923821 (env_factor)
  Authors
Eppley BL, van Aalst JA, Robey A, Havlik RJ, Sadove AM
  Title
The spectrum of orofacial clefting.
  Journal
Plast Reconstr Surg 115:101e-114e (2005)
Reference
  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)
Reference
  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)

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