STHAG7
MCID: TTH026
MIFTS: 15

Tooth Agenesis, Selective, 7 (STHAG7)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 7

MalaCards integrated aliases for Tooth Agenesis, Selective, 7:

Name: Tooth Agenesis, Selective, 7 57 75 29 6
Sthag7 57 75
Agenesis, Tooth, Selective, Type 7 40
Selective Tooth Agenesis 7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in number of missing teeth


HPO:

32
tooth agenesis, selective, 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616724
MeSH 44 D000848

Summaries for Tooth Agenesis, Selective, 7

UniProtKB/Swiss-Prot : 75 Tooth agenesis, selective, 7: An autosomal dominant form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. 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).

MalaCards based summary : Tooth Agenesis, Selective, 7, is also known as sthag7. An important gene associated with Tooth Agenesis, Selective, 7 is LRP6 (LDL Receptor Related Protein 6). Related phenotypes are taurodontia and agenesis of permanent teeth

Description from OMIM: 616724

Related Diseases for Tooth Agenesis, Selective, 7

Symptoms & Phenotypes for Tooth Agenesis, Selective, 7

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
agenesis of permanent teeth (oligodontia)
taurodontia (in some patients)


Clinical features from OMIM:

616724

Human phenotypes related to Tooth Agenesis, Selective, 7:

32
# Description HPO Frequency HPO Source Accession
1 taurodontia 32 occasional (7.5%) HP:0000679
2 agenesis of permanent teeth 32 HP:0006349

Drugs & Therapeutics for Tooth Agenesis, Selective, 7

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, 7

Genetic Tests for Tooth Agenesis, Selective, 7

Genetic tests related to Tooth Agenesis, Selective, 7:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 7 29 LRP6

Anatomical Context for Tooth Agenesis, Selective, 7

Publications for Tooth Agenesis, Selective, 7

Variations for Tooth Agenesis, Selective, 7

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 7:

75
# Symbol AA change Variation ID SNP ID
1 LRP6 p.Ala19Val VAR_076207 rs864309648

ClinVar genetic disease variations for Tooth Agenesis, Selective, 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP6 NM_002336.2(LRP6): c.1779dupT (p.Glu594Terfs) duplication Pathogenic rs864309647 GRCh37 Chromosome 12, 12317480: 12317480
2 LRP6 NM_002336.2(LRP6): c.1779dupT (p.Glu594Terfs) duplication Pathogenic rs864309647 GRCh38 Chromosome 12, 12164546: 12164546
3 LRP6 NM_002336.2(LRP6): c.56C> T (p.Ala19Val) single nucleotide variant Pathogenic rs864309648 GRCh37 Chromosome 12, 12397589: 12397589
4 LRP6 NM_002336.2(LRP6): c.56C> T (p.Ala19Val) single nucleotide variant Pathogenic rs864309648 GRCh38 Chromosome 12, 12244655: 12244655
5 LRP6 NM_002336.2(LRP6): c.2224_2225dupTT (p.Leu742Phefs) duplication Pathogenic rs864309649 GRCh37 Chromosome 12, 12315181: 12315182
6 LRP6 NM_002336.2(LRP6): c.2224_2225dupTT (p.Leu742Phefs) duplication Pathogenic rs864309649 GRCh38 Chromosome 12, 12162247: 12162248

Expression for Tooth Agenesis, Selective, 7

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 7.

Pathways for Tooth Agenesis, Selective, 7

GO Terms for Tooth Agenesis, Selective, 7

Sources for Tooth Agenesis, Selective, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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