Tooth Agenesis, Selective, 1; Sthag1

Description

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 nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see {114600} and {302400}.Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth AgenesisOther forms of selective tooth agenesis include STHAG2 (OMIM ), mapped to chromosome 16q12; STHAG3 (OMIM ), caused by mutation in the PAX9 gene (OMIM ) on chromosome 14q12; STHAG4 (OMIM ), caused by mutation in the WNT10A gene (OMIM ) on chromosome 2q35; STHAG5 (OMIM ), mapped to chromosome 10q11; STHAG7 (OMIM ), caused by mutation in the LRP6 gene (OMIM ) on chromosome 12p13; STHAG8 (OMIM ), caused by mutation in the WNT10B gene (OMIM ) on chromosome 12q13; STHAG9 (OMIM ), caused by mutation in the GREM2 gene (OMIM ) on chromosome 1q43; and STHAGX1 (OMIM ), caused by mutation in the EDA gene (OMIM ) on chromosome Xq13.A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS ).Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype CorrelationsYu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.

Clinical Features

Phenotypes and symptoms related to Tooth Agenesis, Selective, 1; Sthag1

  • Short stature
  • Abnormality of the dentition
  • Hypodontia
  • Oligodontia
  • Reduced number of teeth
  • Anodontia
  • Selective tooth agenesis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Tooth Agenesis, Selective, 1; Sthag1 Is also known as hyd1, hypodontia/oligodontia 1, second premolars and third molars, absence of, tooth agenesis, familial.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Tooth Agenesis, Selective, 1; Sthag1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Orofacial cleft 5 (sequence analysis of MSX1 gene).

By CGC Genetics (Portugal).

MSX1
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
13 %
Genes
100 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
13 %
Genes
100 %
Ectodermal Dysplasia/Tooth Agenesis via MSX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MSX1
Specificity
100 %
Genes
100 %
Tooth Agenesis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNT10A, EDARADD, EDAR, EDA, LTBP3, MSX1, PAX9, AXIN2
Specificity
13 %
Genes
100 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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