STHAG8
MCID: TTH027
MIFTS: 16

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 58 76 6
Sthag8 58 76
Agenesis, Tooth, Selective, Type 8 41
Selective Tooth Agenesis 8 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
lateral incisors are the most frequently missing teeth


HPO:

33
tooth agenesis, selective, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617073
MeSH 45 D000848
SNOMED-CT via HPO 70 16386004 263681008 32337007

Summaries for Tooth Agenesis, Selective, 8

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include skin, and related phenotypes are dry skin and sparse hair

Description from OMIM: 617073

Related Diseases for Tooth Agenesis, Selective, 8

Symptoms & Phenotypes for Tooth Agenesis, Selective, 8

Human phenotypes related to Tooth Agenesis, Selective, 8:

33
# Description HPO Frequency HPO Source Accession
1 dry skin 33 occasional (7.5%) HP:0000958
2 sparse hair 33 occasional (7.5%) HP:0008070
3 sparse eyebrow 33 occasional (7.5%) HP:0045075
4 microdontia 33 HP:0000691
5 selective tooth agenesis 33 HP:0001592

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Tooth Agenesis, Selective, 8

MalaCards organs/tissues related to Tooth Agenesis, Selective, 8:

42
Skin

Publications for Tooth Agenesis, Selective, 8

Articles related to Tooth Agenesis, Selective, 8:

# Title Authors Year
1
Mutations in WNT10B Are Identified in Individuals with Oligodontia. ( 27321946 )
2016

Variations for Tooth Agenesis, Selective, 8

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

76
# Symbol AA change Variation ID SNP ID
1 WNT10B p.Arg211Gln VAR_076926 rs779326570

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT10B NM_003394.3(WNT10B): c.632G> A (p.Arg211Gln) single nucleotide variant Pathogenic rs779326570 GRCh37 Chromosome 12, 49361808: 49361808
2 WNT10B NM_003394.3(WNT10B): c.632G> A (p.Arg211Gln) single nucleotide variant Pathogenic rs779326570 GRCh38 Chromosome 12, 48968025: 48968025
3 WNT10B NM_003394.3(WNT10B): c.786G> A (p.Trp262Ter) single nucleotide variant Pathogenic rs766021478 GRCh37 Chromosome 12, 49360262: 49360262
4 WNT10B NM_003394.3(WNT10B): c.786G> A (p.Trp262Ter) single nucleotide variant Pathogenic rs766021478 GRCh38 Chromosome 12, 48966479: 48966479

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
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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