STHAG3
MCID: TTH012
MIFTS: 21

Tooth Agenesis, Selective, 3 (STHAG3)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 3

MalaCards integrated aliases for Tooth Agenesis, Selective, 3:

Name: Tooth Agenesis, Selective, 3 58 76 30 13 6 74
Hypodontia/oligodontia 3 58 76
Sthag3 58 76
Agenesis, Tooth, Selective, Type 3 41
Selective Tooth Agenesis 3 76
Hyd3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
tooth agenesis, selective, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 604625
MeSH 45 D000848
MedGen 43 C1970291
SNOMED-CT via HPO 70 263681008 32337007
UMLS 74 C1970291

Summaries for Tooth Agenesis, Selective, 3

UniProtKB/Swiss-Prot : 76 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 hypodontia/oligodontia 3, is related to tooth agenesis. An important gene associated with Tooth Agenesis, Selective, 3 is PAX9 (Paired Box 9). Related phenotypes are microdontia and oligodontia

Description from OMIM: 604625

Related Diseases for Tooth Agenesis, Selective, 3

Diseases in the Tooth Agenesis, Selective, 1 family:

Tooth Agenesis, Selective, 4 Tooth Agenesis, Selective, 2
Tooth Agenesis, Selective, 3 Tooth Agenesis, Selective, 5
Tooth Agenesis, Selective, 7 Tooth Agenesis, Selective, 8
Tooth Agenesis, Selective, 9

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 tooth agenesis 9.5 LOC105370455 PAX9

Symptoms & Phenotypes for Tooth Agenesis, Selective, 3

Human phenotypes related to Tooth Agenesis, Selective, 3:

33 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 microdontia 33 occasional (7.5%) HP:0000691
2 oligodontia 33 HP:0000677

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
small teeth (in some patients)
normal primary dentition (in some patients)
agenesis of 6 or more permanent teeth
missing secondary dentition (including molars, premolars, or mandibular central incisors)

Clinical features from OMIM:

604625

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:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 3 30 PAX9

Anatomical Context for Tooth Agenesis, Selective, 3

Publications for Tooth Agenesis, Selective, 3

Articles related to Tooth Agenesis, Selective, 3:

(showing 15, show less)
# Title Authors Year
1
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. ( 19429910 )
2009
2
A novel missense mutation in the paired domain of human PAX9 causes oligodontia. ( 17910065 )
2007
3
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. ( 16479262 )
2006
4
A novel mutation in PAX9 causes familial form of molar oligodontia. ( 16333316 )
2006
5
[Novel mutations of PAX9 gene in Chinese patients with oligodontia]. ( 16191360 )
2005
6
Novel mutation of the initiation codon of PAX9 causes oligodontia. ( 15615874 )
2005
7
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. ( 14607846 )
2004
8
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. ( 14689302 )
2004
9
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. ( 12605438 )
2003
10
Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. ( 12786960 )
2003
11
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. ( 14571272 )
2003
12
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. ( 11941488 )
2002
13
A novel mutation in human PAX9 causes molar oligodontia. ( 11827258 )
2002
14
Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. ( 11781684 )
2001
15
Mutation of PAX9 is associated with oligodontia. ( 10615120 )
2000

Variations for Tooth Agenesis, Selective, 3

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

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PAX9 p.Gly51Ser VAR_015698 rs104894469

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

6 (showing 33, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX9 NM_006194.3(PAX9): c.139C> T (p.Arg47Trp) single nucleotide variant Pathogenic rs121917720 GRCh38 Chromosome 14, 36663031: 36663031
2 PAX9 NM_006194.3(PAX9): c.139C> T (p.Arg47Trp) single nucleotide variant Pathogenic rs121917720 GRCh37 Chromosome 14, 37132236: 37132236
3 PAX9 PAX9, 1-BP INS, 190G insertion Pathogenic
4 PAX9 NM_006194.3(PAX9): c.151G> A (p.Gly51Ser) single nucleotide variant Pathogenic rs104894469 GRCh38 Chromosome 14, 36663043: 36663043
5 PAX9 NM_006194.3(PAX9): c.151G> A (p.Gly51Ser) single nucleotide variant Pathogenic rs104894469 GRCh37 Chromosome 14, 37132248: 37132248
6 PAX9 PAX9, 1A-G single nucleotide variant Pathogenic
7 PAX9 PAX9, 1-BP INS, 793C insertion Pathogenic
8 PAX9 NM_006194.3(PAX9): c.259A> T (p.Ile87Phe) single nucleotide variant Uncertain significance rs104894468 GRCh38 Chromosome 14, 36663151: 36663151
9 PAX9 NM_006194.3(PAX9): c.259A> T (p.Ile87Phe) single nucleotide variant Uncertain significance rs104894468 GRCh37 Chromosome 14, 37132356: 37132356
10 PAX9 NM_006194.3(PAX9): c.76C> T (p.Arg26Trp) single nucleotide variant Pathogenic rs28933972 GRCh38 Chromosome 14, 36662968: 36662968
11 PAX9 NM_006194.3(PAX9): c.76C> T (p.Arg26Trp) single nucleotide variant Pathogenic rs28933972 GRCh37 Chromosome 14, 37132173: 37132173
12 PAX9 NM_006194.3(PAX9): c.83G> C (p.Arg28Pro) single nucleotide variant Pathogenic rs28933971 GRCh38 Chromosome 14, 36662975: 36662975
13 PAX9 NM_006194.3(PAX9): c.83G> C (p.Arg28Pro) single nucleotide variant Pathogenic rs28933971 GRCh37 Chromosome 14, 37132180: 37132180
14 PAX9 PAX9, 288-BP INS insertion Pathogenic
15 PAX9 NM_006194.3(PAX9): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs28933970 GRCh38 Chromosome 14, 36662954: 36662954
16 PAX9 NM_006194.3(PAX9): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs28933970 GRCh37 Chromosome 14, 37132159: 37132159
17 PAX9 NM_006194.3(PAX9): c.271A> G (p.Lys91Glu) single nucleotide variant Uncertain significance rs28933373 GRCh38 Chromosome 14, 36663163: 36663163
18 PAX9 NM_006194.3(PAX9): c.271A> G (p.Lys91Glu) single nucleotide variant Uncertain significance rs28933373 GRCh37 Chromosome 14, 37132368: 37132368
19 PAX9 PAX9, DEL deletion Pathogenic
20 PAX9 NM_006194.3(PAX9): c.340A> T (p.Lys114Ter) single nucleotide variant Pathogenic rs104894467 GRCh38 Chromosome 14, 36663232: 36663232
21 PAX9 NM_006194.3(PAX9): c.340A> T (p.Lys114Ter) single nucleotide variant Pathogenic rs104894467 GRCh37 Chromosome 14, 37132437: 37132437
22 PAX9 PAX9, 1-BP INS, 219G insertion Pathogenic
23 PAX9 PAX9, 3-BP DEL, 24-BP INS, NT619 indel Pathogenic
24 PAX9 NM_006194.3(PAX9): c.59C> T (p.Pro20Leu) single nucleotide variant Pathogenic rs1555316697 GRCh38 Chromosome 14, 36662951: 36662951
25 PAX9 NM_006194.3(PAX9): c.59C> T (p.Pro20Leu) single nucleotide variant Pathogenic rs1555316697 GRCh37 Chromosome 14, 37132156: 37132156
26 PAX9 NM_006194.3(PAX9): c.717C> T (p.His239=) single nucleotide variant Benign/Likely benign rs12881240 GRCh38 Chromosome 14, 36666547: 36666547
27 PAX9 NM_006194.3(PAX9): c.717C> T (p.His239=) single nucleotide variant Benign/Likely benign rs12881240 GRCh37 Chromosome 14, 37135752: 37135752
28 PAX9 NM_006194.3(PAX9): c.718G> C (p.Ala240Pro) single nucleotide variant Benign/Likely benign rs4904210 GRCh37 Chromosome 14, 37135753: 37135753
29 PAX9 NM_006194.3(PAX9): c.718G> C (p.Ala240Pro) single nucleotide variant Benign/Likely benign rs4904210 GRCh38 Chromosome 14, 36666548: 36666548
30 PAX9 NM_006194.3(PAX9): c.336C> G (p.Cys112Trp) single nucleotide variant Pathogenic rs587776350 GRCh38 Chromosome 14, 36663228: 36663228
31 PAX9 NM_006194.3(PAX9): c.336C> G (p.Cys112Trp) single nucleotide variant Pathogenic rs587776350 GRCh37 Chromosome 14, 37132433: 37132433
32 PAX9 NM_006194.3(PAX9): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs1131692057 GRCh37 Chromosome 14, 37131297: 37131297
33 PAX9 NM_006194.3(PAX9): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs1131692057 GRCh38 Chromosome 14, 36662092: 36662092

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

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