STHAG8
MCID: TTH027
MIFTS: 17

Tooth Agenesis, Selective, 8 (STHAG8)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 8

MalaCards integrated aliases for Tooth Agenesis, Selective, 8:

Name: Tooth Agenesis, Selective, 8 57 72 29 6
Sthag8 57 72
Agenesis, Tooth, Selective, Type 8 39
Selective Tooth Agenesis 8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
lateral incisors are the most frequently missing teeth


HPO:

31
tooth agenesis, selective, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617073
OMIM Phenotypic Series 57 PS106600
MeSH 44 D000848

Summaries for Tooth Agenesis, Selective, 8

UniProtKB/Swiss-Prot : 72 Tooth agenesis, selective, 8: A 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). STHAG8 inheritance is autosomal dominant.

MalaCards based summary : Tooth Agenesis, Selective, 8, is also known as sthag8. An important gene associated with Tooth Agenesis, Selective, 8 is WNT10B (Wnt Family Member 10B). Related phenotypes are dry skin and sparse hair

More information from OMIM: 617073 PS106600

Related Diseases for Tooth Agenesis, Selective, 8

Symptoms & Phenotypes for Tooth Agenesis, Selective, 8

Human phenotypes related to Tooth Agenesis, Selective, 8:

31
# Description HPO Frequency HPO Source Accession
1 dry skin 31 occasional (7.5%) HP:0000958
2 sparse hair 31 occasional (7.5%) HP:0008070
3 sparse eyebrow 31 occasional (7.5%) HP:0045075
4 microdontia 31 HP:0000691
5 selective tooth agenesis 31 HP:0001592

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
small teeth
cone-shaped teeth
selective tooth agenesis of permanent dentition
shovel-shaped teeth

Head And Neck Eyes:
sparse eyebrows (in some patients)

Skin Nails Hair Hair:
sparse hair (in some patients)
sparse eyebrows (in some patients)
lighter-colored hair (in some patients)

Skin Nails Hair Skin:
dry skin (in some patients)

Clinical features from OMIM®:

617073 (Updated 20-May-2021)

Drugs & Therapeutics for Tooth Agenesis, Selective, 8

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, 8

Genetic Tests for Tooth Agenesis, Selective, 8

Genetic tests related to Tooth Agenesis, Selective, 8:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 8 29 WNT10B

Anatomical Context for Tooth Agenesis, Selective, 8

Publications for Tooth Agenesis, Selective, 8

Articles related to Tooth Agenesis, Selective, 8:

# Title Authors PMID Year
1
Mutations in WNT10B Are Identified in Individuals with Oligodontia. 6 57
27321946 2016

Variations for Tooth Agenesis, Selective, 8

ClinVar genetic disease variations for Tooth Agenesis, Selective, 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT10B NM_003394.4(WNT10B):c.786G>A (p.Trp262Ter) SNV Pathogenic 253058 rs766021478 GRCh37: 12:49360262-49360262
GRCh38: 12:48966479-48966479
2 WNT10B NM_003394.4(WNT10B):c.632G>A (p.Arg211Gln) SNV Pathogenic 253057 rs779326570 GRCh37: 12:49361808-49361808
GRCh38: 12:48968025-48968025
3 WNT10B NM_003394.4(WNT10B):c.817dup (p.Ala273fs) Duplication Uncertain significance 634647 GRCh37: 12:49360230-49360231
GRCh38: 12:48966447-48966448

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 8:

72
# Symbol AA change Variation ID SNP ID
1 WNT10B p.Arg211Gln VAR_076926 rs779326570

Expression for Tooth Agenesis, Selective, 8

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 8.

Pathways for Tooth Agenesis, Selective, 8

GO Terms for Tooth Agenesis, Selective, 8

Sources for Tooth Agenesis, Selective, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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