TOOTH AGENESIS, SELECTIVE, X-LINKED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPODONTIA/OLIGODONTIA, X-LINKED, 1
STHAGX1
Number of Symptoms 3
OrphanetNr:
OMIM Id: 313500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant 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:0000668) Hypodontia 81 / 7739
3
(HPO:0001423) X-linked dominant inheritance 69 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Erpenstein and Pfeiffer (1967) described transmission of oligodontia or hypodontia through 4 generations of a family. Males had oligodontia; females had hypodontia. No male-to-male transmission was observed. However, only 2 affected males had children (4 unaffected sons, 1 ...
Genotype-Phenotype Correlations OMIM Han et al. (2008) analyzed 24 patients with defined mutations in the EDA gene and known patterns of tooth agenesis in their permanent dentition. Teeth with the highest probability of absence were the maxillary and mandibular lateral incisors ...
Molecular genetics OMIM In a family segregating X-linked congenital hypodontia, Tao et al. (2006) identified a missense mutation in the EDA gene (R65G; 300451.0014) in all affected males and carrier females. Three of the 9 female carriers (33%) had a skewed ...