MCID: TTH012
MIFTS: 15

Tooth Agenesis, Selective, 3

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 53 71 28 13 69
Hypodontia/oligodontia 3 53 71
Sthag3 53 71
Selective Tooth Agenesis 3 71
Hyd3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
tooth agenesis, selective, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 604625
MedGen 39 C1970291
MeSH 41 D000848
SNOMED-CT via HPO 65 263681008 32337007
UMLS 69 C1970291

Summaries for Tooth Agenesis, Selective, 3

UniProtKB/Swiss-Prot : 71 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, is also known as hypodontia/oligodontia 3, and has symptoms including oligodontia and microdontia. 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

Symptoms & Phenotypes for Tooth Agenesis, Selective, 3

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Teeth:
normal primary dentition (in some patients)
agenesis of 6 or more permanent teeth
missing secondary dentition (including molars, premolars, or mandibular central incisors)
small teeth (in some patients)


Clinical features from OMIM:

604625

Human phenotypes related to Tooth Agenesis, Selective, 3:

31
# Description HPO Frequency HPO Source Accession
1 oligodontia 31 HP:0000677
2 microdontia 31 occasional (7.5%) HP:0000691

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 28 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:

71
# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX9 NM_006194.3(PAX9): c.76C> T (p.Arg26Trp) single nucleotide variant Pathogenic rs28933972 GRCh38 Chromosome 14, 36662968: 36662968
2 PAX9 NM_006194.3(PAX9): c.259A> T (p.Ile87Phe) single nucleotide variant Pathogenic rs104894468 GRCh37 Chromosome 14, 37132356: 37132356
3 PAX9 PAX9, 1-BP INS, 793C insertion Pathogenic
4 PAX9 NM_006194.3(PAX9): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs28933970 GRCh38 Chromosome 14, 36662954: 36662954
5 PAX9 PAX9, 288-BP INS insertion Pathogenic
6 PAX9 NM_006194.3(PAX9): c.83G> C (p.Arg28Pro) single nucleotide variant Pathogenic rs28933971 GRCh37 Chromosome 14, 37132180: 37132180
7 PAX9 PAX9, 1-BP INS, 219G insertion Pathogenic
8 PAX9 NM_006194.3(PAX9): c.340A> T (p.Lys114Ter) single nucleotide variant Pathogenic rs104894467 GRCh37 Chromosome 14, 37132437: 37132437
9 PAX9 PAX9, DEL deletion Pathogenic
10 PAX9 NM_006194.3(PAX9): c.151G> A (p.Gly51Ser) single nucleotide variant Pathogenic rs104894469 GRCh37 Chromosome 14, 37132248: 37132248
11 PAX9 PAX9, 1-BP INS, 190G insertion Pathogenic
12 PAX9 NM_006194.3(PAX9): c.139C> T (p.Arg47Trp) single nucleotide variant Pathogenic rs121917720 GRCh37 Chromosome 14, 37132236: 37132236
13 PAX9 PAX9, 1A-G single nucleotide variant Pathogenic
14 PAX9 PAX9, 3-BP DEL, 24-BP INS, NT619 indel Pathogenic
15 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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