TOOTH AGENESIS, SELECTIVE, 6

General Information (adopted from Orphanet):

Synonyms, Signs: STHAG6
Number of Symptoms 8
OrphanetNr:
OMIM Id: 613097
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000677) Oligodontia 41 / 7739
2
 (HPO:0001592) Selective tooth agenesis 16 / 7739
3
 (HPO:0011001) Increased bone mineral density 78 / 7739
4
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
5
 (OMIM) Increased bone density at bottom of skull 1 / 7739
6
 (OMIM) Increased bone density in spine 1 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Alveolar bone absent where teeth are missing 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Noor et al. (2009) reported a consanguineous Pakistani family in which 5 sibs had selective tooth agenesis characterized by absence of many of the permanent teeth. Two affected males were examined in detail. Radiographs showed apparent congenital oligodontia ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing in a consanguineous Pakistani family with autosomal recessive inheritance of selective tooth agenesis, Noor et al. (2009) identified a homozygous nonsense mutation in the LTBP3 gene (Y744X; 602090.0001). The ...