STHAG9
MCID: TTH025
MIFTS: 18

Tooth Agenesis, Selective, 9 (STHAG9)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 9

MalaCards integrated aliases for Tooth Agenesis, Selective, 9:

Name: Tooth Agenesis, Selective, 9 57 72 29 6
Sthag9 57 72
Agenesis, Tooth, Selective, Type 9 39

Characteristics:

OMIM®:

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

Miscellaneous:
one patient with tooth agenesis also exhibited mild ectodermal features (dry, itchy skin and fine, blond, slow-growing hair)


HPO:

31
tooth agenesis, selective, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617275
OMIM Phenotypic Series 57 PS106600
MeSH 44 D000848
SNOMED-CT via HPO 68 263681008

Summaries for Tooth Agenesis, Selective, 9

UniProtKB/Swiss-Prot : 72 Tooth agenesis, selective, 9: 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). STHAG9 inheritance is autosomal dominant.

MalaCards based summary : Tooth Agenesis, Selective, 9, is also known as sthag9. An important gene associated with Tooth Agenesis, Selective, 9 is GREM2 (Gremlin 2, DAN Family BMP Antagonist). Affiliated tissues include skin, and related phenotype is selective tooth agenesis.

More information from OMIM: 617275 PS106600

Related Diseases for Tooth Agenesis, Selective, 9

Symptoms & Phenotypes for Tooth Agenesis, Selective, 9

Human phenotypes related to Tooth Agenesis, Selective, 9:

31
# Description HPO Frequency HPO Source Accession
1 selective tooth agenesis 31 HP:0001592

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
selective tooth agenesis of permanent dentition
agenesis of maxillary lateral incisors (in some patients)
agenesis of mandibular lateral incisors (in some patients)
agenesis of maxillary canines (in 1 patient)
agenesis of maxillary second molar (in 1 patient)
more

Clinical features from OMIM®:

617275 (Updated 20-May-2021)

Drugs & Therapeutics for Tooth Agenesis, Selective, 9

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, 9

Genetic Tests for Tooth Agenesis, Selective, 9

Genetic tests related to Tooth Agenesis, Selective, 9:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 9 29 GREM2

Anatomical Context for Tooth Agenesis, Selective, 9

MalaCards organs/tissues related to Tooth Agenesis, Selective, 9:

40
Skin

Publications for Tooth Agenesis, Selective, 9

Articles related to Tooth Agenesis, Selective, 9:

# Title Authors PMID Year
1
GREMLIN 2 Mutations and Dental Anomalies. 57 6
26416033 2015
2
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 57 6
23401279 2013

Variations for Tooth Agenesis, Selective, 9

ClinVar genetic disease variations for Tooth Agenesis, Selective, 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GREM2 NM_022469.4(GREM2):c.38C>T (p.Ala13Val) SNV Pathogenic 374884 rs373941682 GRCh37: 1:240656738-240656738
GRCh38: 1:240493438-240493438
2 GREM2 NM_022469.4(GREM2):c.408G>T (p.Glu136Asp) SNV Pathogenic 374885 rs1057519288 GRCh37: 1:240656368-240656368
GRCh38: 1:240493068-240493068

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 9:

72
# Symbol AA change Variation ID SNP ID
1 GREM2 p.Ala13Val VAR_078067 rs373941682
2 GREM2 p.Gln76Glu VAR_078068 rs142343894
3 GREM2 p.Glu136Asp VAR_078069 rs105751928

Expression for Tooth Agenesis, Selective, 9

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 9.

Pathways for Tooth Agenesis, Selective, 9

GO Terms for Tooth Agenesis, Selective, 9

Sources for Tooth Agenesis, Selective, 9

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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