TOOTH AGENESIS, SELECTIVE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: STHAG1
HYPODONTIA/OLIGODONTIA 1
SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF
TOOTH AGENESIS, FAMILIAL TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT, INCLUDED
HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT, INCLUDED
HYD1
Number of Symptoms 1
OrphanetNr:
OMIM Id: 106600
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:0000668) Hypodontia 81 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in ...
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 In a family with autosomal dominant agenesis of second premolars and third molars, Vastardis et al. (1996) identified a missense mutation in the homeodomain of the MSX1 gene (142983.0001).

Van den Boogaard et al. (2000) identified ...