STHAG3
MCID: TTH012
MIFTS: 16

Tooth Agenesis, Selective, 3 (STHAG3) malady

Categories: Genetic diseases

Aliases & Classifications for Tooth Agenesis, Selective, 3

Aliases & Descriptions for Tooth Agenesis, Selective, 3:

Name: Tooth Agenesis, Selective, 3 54 24 66 13 69
Selective Tooth Agenesis 3 66 29
Hypodontia/oligodontia 3 24 66
Sthag3 24 66
Hyd3 66

Characteristics:

HPO:

32
tooth agenesis, selective, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604625
MedGen 40 C1970291
MeSH 42 D000848

Summaries for Tooth Agenesis, Selective, 3

UniProtKB/Swiss-Prot : 66 Tooth agenesis, selective, 3: 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).

MalaCards based summary : Tooth Agenesis, Selective, 3, also known as selective tooth agenesis 3, is related to tooth agenesis, selective, 1, with or without orofacial cleft, and has symptoms including microdontia and oligodontia. An important gene associated with Tooth Agenesis, Selective, 3 is PAX9 (Paired Box 9).

Description from OMIM: 604625

Related Diseases for Tooth Agenesis, Selective, 3

Diseases in the Tooth Agenesis, Selective, 4 family:

Tooth Agenesis, Selective, 5 Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 2 Tooth Agenesis, Selective, 9
Tooth Agenesis, Selective, 7 Tooth Agenesis, Selective, 8

Diseases related to Tooth Agenesis, Selective, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 tooth agenesis, selective, 1, with or without orofacial cleft 11.0

Symptoms & Phenotypes for Tooth Agenesis, Selective, 3

Symptoms by clinical synopsis from OMIM:

604625

Clinical features from OMIM:

604625

Human phenotypes related to Tooth Agenesis, Selective, 3:

32
id Description HPO Frequency HPO Source Accession
1 microdontia 32 HP:0000691
2 oligodontia 32 HP:0000677

Drugs & Therapeutics for Tooth Agenesis, Selective, 3

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, 3

Genetic Tests for Tooth Agenesis, Selective, 3

Genetic tests related to Tooth Agenesis, Selective, 3:

id Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 3 29 24 PAX9

Anatomical Context for Tooth Agenesis, Selective, 3

Publications for Tooth Agenesis, Selective, 3

Variations for Tooth Agenesis, Selective, 3

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 3:

66
id Symbol AA change Variation ID SNP ID
1 PAX9 p.Gly51Ser VAR_015698 rs104894469

ClinVar genetic disease variations for Tooth Agenesis, Selective, 3:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 PAX9 PAX9, 3-BP DEL, 24-BP INS, NT619 indel Pathogenic
2 PAX9 NM_006194.3(PAX9): c.151G> A (p.Gly51Ser) single nucleotide variant Pathogenic rs104894469 GRCh37 Chromosome 14, 37132248: 37132248
3 PAX9 PAX9, 1-BP INS, 219G insertion Pathogenic
4 PAX9 NM_006194.3(PAX9): c.340A> T (p.Lys114Ter) single nucleotide variant Pathogenic rs104894467 GRCh37 Chromosome 14, 37132437: 37132437
5 PAX9 PAX9, DEL deletion Pathogenic
6 PAX9 NM_006194.3(PAX9): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs28933373 GRCh37 Chromosome 14, 37132368: 37132368
7 PAX9 NM_006194.3(PAX9): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs28933970 GRCh37 Chromosome 14, 37132159: 37132159
8 PAX9 PAX9, 288-BP INS insertion Pathogenic
9 PAX9 NM_006194.3(PAX9): c.83G> C (p.Arg28Pro) single nucleotide variant Pathogenic rs28933971 GRCh37 Chromosome 14, 37132180: 37132180
10 PAX9 NM_006194.3(PAX9): c.76C> T (p.Arg26Trp) single nucleotide variant Pathogenic rs28933972 GRCh37 Chromosome 14, 37132173: 37132173
11 PAX9 NM_006194.3(PAX9): c.259A> T (p.Ile87Phe) single nucleotide variant Pathogenic rs104894468 GRCh37 Chromosome 14, 37132356: 37132356
12 PAX9 PAX9, 1-BP INS, 793C insertion Pathogenic
13 PAX9 PAX9, 1A-G single nucleotide variant Pathogenic
14 PAX9 PAX9, 1-BP INS, 190G insertion Pathogenic
15 PAX9 NM_006194.3(PAX9): c.139C> T (p.Arg47Trp) single nucleotide variant Pathogenic rs121917720 GRCh37 Chromosome 14, 37132236: 37132236

Expression for Tooth Agenesis, Selective, 3

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 3.

Pathways for Tooth Agenesis, Selective, 3

GO Terms for Tooth Agenesis, Selective, 3

Sources for Tooth Agenesis, Selective, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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