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selective tooth agenesis (familial tooth agenesis)
Epidemiology:
- common, ~ 20% of population [1]
Genetics:
- type 1:
- autosomal dominant
- associated with defects in MSX1
- type 2: [2]
- autosomal recessive
- linked to chromosome 16q12.1
- type 3 [3]
- autosomal dominant
- linked to PAX9
- type 4 [4]
- autosomal dominant with incomplete penetrance
- linked to WNT10A
- type 5 [5]
- linked to chromosome 10q11.2-q21
- type 6 [6]
- linked to LTBP3
Clinical manifestations:
- congenital absence of one or more teeth
- some individuals with type 6 may have short stature
General
hypodontia
genetic disease of the teeth
Database Correlations
OMIM correlations
References
- OMIM :accession 106600
- OMIM :accession 602639
- OMIM :accession 604625
- OMIM :accession 150400
- OMIM :accession 610926
- OMIM :accession 613097