STHAG9
MCID: TTH025
MIFTS: 15

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 58 76 6
Sthag9 58 76
Agenesis, Tooth, Selective, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
tooth agenesis, selective, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617275
MeSH 45 D000848
SNOMED-CT via HPO 70 263681008

Summaries for Tooth Agenesis, Selective, 9

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 617275

Related Diseases for Tooth Agenesis, Selective, 9

Symptoms & Phenotypes for Tooth Agenesis, Selective, 9

Human phenotypes related to Tooth Agenesis, Selective, 9:

33
# Description HPO Frequency HPO Source Accession
1 selective tooth agenesis 33 HP:0001592

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Tooth Agenesis, Selective, 9

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

42
Skin

Publications for Tooth Agenesis, Selective, 9

Variations for Tooth Agenesis, Selective, 9

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GREM2 NM_022469.3(GREM2): c.38C> T (p.Ala13Val) single nucleotide variant Pathogenic rs373941682 GRCh37 Chromosome 1, 240656738: 240656738
2 GREM2 NM_022469.3(GREM2): c.38C> T (p.Ala13Val) single nucleotide variant Pathogenic rs373941682 GRCh38 Chromosome 1, 240493438: 240493438
3 GREM2 NM_022469.3(GREM2): c.408G> T (p.Glu136Asp) single nucleotide variant Pathogenic rs1057519288 GRCh37 Chromosome 1, 240656368: 240656368
4 GREM2 NM_022469.3(GREM2): c.408G> T (p.Glu136Asp) single nucleotide variant Pathogenic rs1057519288 GRCh38 Chromosome 1, 240493068: 240493068

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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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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