Tooth agenesis, selective, 1

Preferred Label : Tooth agenesis, selective, 1;

Symbol : STHAG1;

CISMeF acronym : HYD1; STHAG1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypodontia/oligodontia 1; Second premolars and third molars, absence of; Tooth agenesis, familial; HYD1;

Included titles and symbols : Tooth agenesis, selective, with orofacial cleft; Hypodontia/oligodontia with orofacial cleft;

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 The term 'partial anodontia' is obsolete (Salinas, 1978).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 Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG6 (613097), caused by mutation in the LTBP3 gene (602090) on chromosome 11q12; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on the X chromosome. 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.;

Inheritance : Autosomal dominant;

Prefixed ID : #106600;

Details

Origin ID

106600;

UMLS CUI

C3489529;

Automatic exact mappings (from CISMeF team)
- Hypodontia [ORDO Disease]
- MSX1 wt Allele [NCIt concept]
- Oligodontia [ORDO Disease]
- anodontia [MeSH Descriptor]
- hypodontia oligodontia with orofacial cleft [MeSH concept]
- hypodontia oligodontia with orofacial cleft [MeSH Supplementary Concept]
- msh homeobox 1 [ORDO Gene]
- tooth agenesis [DO Concept]
- tooth agenesis, familial [MeSH concept]
- tooth agenesis, selective, X-Linked, 1 [MeSH concept]
- tooth agenesis, selective, X-Linked, 1 [MeSH Supplementary Concept]
- tooth agenesis, selective, with orofacial cleft [MeSH concept]
- tooth agenesis, selective, with orofacial cleft [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hypodontia [ORDO Disease]
DO Cross reference
- tooth agenesis [DO Concept]
Genes related to phenotype
- Msh homeobox 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypodontia [HPO term]
ORDO concept(s)
- Hypodontia [ORDO Disease]
- Oligodontia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- tooth agenesis, familial [MeSH concept]

Keyword's position in hierarchy(ies) :

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