TOOTH AGENESIS, SELECTIVE, 3

General Information (adopted from Orphanet):

Synonyms, Signs: STHAG3
HYPODONTIA/OLIGODONTIA 3
Number of Symptoms 3
OrphanetNr:
OMIM Id: 604625
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000691) Microdontia rare [HPO:skoehler] 104 / 7739
2
(HPO:0000677) Oligodontia 41 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stockton et al. (2000) studied a family segregating a seemingly unique form of oligodontia in an autosomal dominant manner. The affected individuals had normal primary dentition but lacked most permanent molars. Some individuals also lacked maxillary and/or mandibular ...
Genotype-Phenotype Correlations OMIM Kim et al. (2006) analyzed the pattern of tooth agenesis in several kindreds with defined MSX1 and PAX9 mutations. They found that the probability of missing a particular type of tooth is always bilaterally symmetrical, but differences exist ...
Molecular genetics OMIM Nieminen et al. (1995) excluded involvement of the MSX1 (142983) and MSX2 (123101) genes in some families with hypodontia involving both second premolars and lateral incisors.

In a family segregating autosomal dominant oligodontia, Stockton et al. ...