STHAG7
MCID: TTH026
MIFTS: 16

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 56 73 29 6
Sthag7 56 73
Agenesis, Tooth, Selective, Type 7 39
Selective Tooth Agenesis 7 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in number of missing teeth


HPO:

31
tooth agenesis, selective, 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 616724
OMIM Phenotypic Series 56 PS106600
MeSH 43 D000848

Summaries for Tooth Agenesis, Selective, 7

UniProtKB/Swiss-Prot : 73 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

More information from OMIM: 616724 PS106600

Related Diseases for Tooth Agenesis, Selective, 7

Symptoms & Phenotypes for Tooth Agenesis, Selective, 7

Human phenotypes related to Tooth Agenesis, Selective, 7:

31
# Description HPO Frequency HPO Source Accession
1 taurodontia 31 occasional (7.5%) HP:0000679
2 agenesis of permanent teeth 31 HP:0006349

Symptoms via clinical synopsis from OMIM:

56
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 29 LRP6

Anatomical Context for Tooth Agenesis, Selective, 7

Publications for Tooth Agenesis, Selective, 7

Articles related to Tooth Agenesis, Selective, 7:

# Title Authors PMID Year
1
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. 56 6
26387593 2015

Variations for Tooth Agenesis, Selective, 7

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP6 NM_002336.3(LRP6):c.1779dup (p.Glu594Ter)duplication Pathogenic 218878 rs864309647 12:12317479-12317480 12:12164545-12164546
2 LRP6 NM_002336.3(LRP6):c.56C>T (p.Ala19Val)SNV Pathogenic 218879 rs864309648 12:12397589-12397589 12:12244655-12244655
3 LRP6 NM_002336.3(LRP6):c.2224_2225dup (p.Leu742fs)duplication Pathogenic 218880 rs864309649 12:12315180-12315181 12:12162246-12162247

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

73
# Symbol AA change Variation ID SNP ID
1 LRP6 p.Ala19Val VAR_076207 rs864309648

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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