KEGG   DISEASE: Cleft palate with ankyloglossia
Entry
H00909                      Disease                                

Name
Cleft palate with ankyloglossia
Description
Cleft palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female carriers. It is resulted from failure of the palate to close and affected individuals will have problems with feeding, speech, hearing, and dentition.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of face and neck
   H00909  Cleft palate with ankyloglossia
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
     LA42  Cleft palate
      H00909  Cleft palate with ankyloglossia
Gene
TBX22 [HSA:50945] [KO:K10186]
Other DBs
ICD-11: LA42.Y
ICD-10: Q35
MeSH: C564442
OMIM: 303400
Reference
  Authors
Pauws E, Moore GE, Stanier P
  Title
A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
  Journal
J Med Genet 46:555-61 (2009)
DOI:10.1136/jmg.2009.066902
Reference
  Authors
Braybrook C, Doudney K, Marcano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P
  Title
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.
  Journal
Nat Genet 29:179-83 (2001)
DOI:10.1038/ng730
Reference
  Authors
Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P
  Title
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
  Journal
J Dent Res 90:450-5 (2011)
DOI:10.1177/0022034510391052
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