KEGG   DISEASE: Tooth agenesisHelp
Entry
H00625                      Disease                                

Name
Tooth agenesis;
Hypodontia
Description
Tooth agenesis, or hypodontia/origodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the oral epithelium and an underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait.
Category
Mouth and dental disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Mouth and dental diseases
   H00625  Tooth agenesis
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
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H00625  Tooth agenesis
BRITE hierarchy
Pathway
hsa04310  Wnt signaling pathway
Gene
MSX1 [HSA:4487] [KO:K09341]
PAX9 [HSA:5083] [KO:K09382]
WNT10A [HSA:80326] [KO:K01357]
WNT10B [HSA:7480] [KO:K01357]
LRP6 [HSA:4040] [KO:K03068]
GREM2 [HSA:64388] [KO:K23318]
LTBP3 [HSA:4054] [KO:K08023]
EDA [HSA:1896] [KO:K05480]
Other DBs
ICD-11: LA30.1
ICD-10: K00.4
MeSH: D000848
OMIM: 106600 604625 150400 617073 616724 617275 313500 601216
Reference
  Authors
Hu JC, Simmer JP
  Title
Developmental biology and genetics of dental malformations.
  Journal
Orthod Craniofac Res 10:45-52 (2007)
DOI:10.1111/j.1601-6343.2007.00384.x
Reference
  Authors
Pani SC
  Title
The genetic basis of tooth agenesis: basic concepts and genes involved.
  Journal
J Indian Soc Pedod Prev Dent 29:84-9 (2011)
DOI:10.4103/0970-4388.84677
Reference
  Authors
Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB
  Title
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
  Journal
Am J Hum Genet 84:519-23 (2009)
DOI:10.1016/j.ajhg.2009.03.007
Reference
  Authors
Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N
  Title
WNT10A mutations account for (1/4) of population-based isolated oligodontia and show phenotypic correlations.
  Journal
Am J Med Genet A 164A:353-9 (2014)
DOI:10.1002/ajmg.a.36243
Reference
  Authors
Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T
  Title
Mutations in WNT10B Are Identified in Individuals with Oligodontia.
  Journal
Am J Hum Genet 99:195-201 (2016)
DOI:10.1016/j.ajhg.2016.05.012
Reference
  Authors
Massink MP, Creton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G
  Title
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.
  Journal
Am J Hum Genet 97:621-6 (2015)
DOI:10.1016/j.ajhg.2015.08.014
Reference
  Authors
Kantaputra PN, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, Ketudat Cairns JR
  Title
GREMLIN 2 Mutations and Dental Anomalies.
  Journal
J Dent Res 94:1646-52 (2015)
DOI:10.1177/0022034515608168
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system