STHAG3
MCID: TTH012
MIFTS: 17

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:

# 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
# 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

Variations for Tooth Agenesis, Selective, 3

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

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

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
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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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
Content
Loading form....