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 57 75 6
Sthag8 57 75
Agenesis, Tooth, Selective, Type 8 40
Selective Tooth Agenesis 8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
lateral incisors are the most frequently missing teeth


HPO:

32
tooth agenesis, selective, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617073
MeSH 44 D000848
SNOMED-CT via HPO 69 263681008 32337007 16386004

Summaries for Tooth Agenesis, Selective, 8

UniProtKB/Swiss-Prot : 75 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 microdontia and dry skin

Description from OMIM: 617073

Related Diseases for Tooth Agenesis, Selective, 8

Symptoms & Phenotypes for Tooth Agenesis, Selective, 8

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Tooth Agenesis, Selective, 8:

32
# Description HPO Frequency HPO Source Accession
1 microdontia 32 HP:0000691
2 dry skin 32 occasional (7.5%) HP:0000958
3 sparse hair 32 occasional (7.5%) HP:0008070
4 sparse eyebrow 32 occasional (7.5%) HP:0045075
5 selective tooth agenesis 32 HP:0001592

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:

41
Skin

Publications for Tooth Agenesis, Selective, 8

Variations for Tooth Agenesis, Selective, 8

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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