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 58 76 30 6
Sthag7 58 76
Agenesis, Tooth, Selective, Type 7 41
Selective Tooth Agenesis 7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in number of missing teeth


HPO:

33
tooth agenesis, selective, 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616724
MeSH 45 D000848

Summaries for Tooth Agenesis, Selective, 7

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Tooth Agenesis, Selective, 7:

33
# Description HPO Frequency HPO Source Accession
1 taurodontia 33 occasional (7.5%) HP:0000679
2 agenesis of permanent teeth 33 HP:0006349

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
agenesis of permanent teeth (oligodontia)
taurodontia (in some patients)

Clinical features from OMIM:

616724

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 30 LRP6

Anatomical Context for Tooth Agenesis, Selective, 7

Publications for Tooth Agenesis, Selective, 7

Articles related to Tooth Agenesis, Selective, 7:

# Title Authors Year
1
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. ( 26387593 )
2015

Variations for Tooth Agenesis, Selective, 7

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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