MCID: TTH012
MIFTS: 16

Tooth Agenesis, Selective, 3 malady

Category: Genetic diseases (common)

Aliases & Classifications for Tooth Agenesis, Selective, 3

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Aliases & Descriptions for Tooth Agenesis, Selective, 3:

Name: Tooth Agenesis, Selective, 3 49 11 22 65
Tooth Agenesis Selective 3 67 24
Hypodontia/oligodontia 3 22 67
 
Sthag3 22 67
Hyd3 67

Characteristics:

HPO:

61
tooth agenesis, selective, 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604625
MedGen34 C1970291
MeSH36 D000848
UMLS65 C1970291

Summaries for Tooth Agenesis, Selective, 3

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UniProtKB/Swiss-Prot:67 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 tooth agenesis selective 3, is related to tooth agenesis, selective, 1, with or without orofacial cleft, and has symptoms including microdontiaand oligodontia. An important gene associated with Tooth Agenesis, Selective, 3 is PAX9 (Paired Box 9).

Description from OMIM:49 604625

Related Diseases for Tooth Agenesis, Selective, 3

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Diseases in the Tooth Agenesis, Selective, 4 family:

Tooth Agenesis, Selective, 5 tooth agenesis, selective, 3
Tooth Agenesis, Selective, 2

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

idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis, selective, 1, with or without orofacial cleft10.1

Symptoms for Tooth Agenesis, Selective, 3

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Symptoms by clinical synopsis from OMIM:

604625

Clinical features from OMIM:

604625

HPO human phenotypes related to Tooth Agenesis, Selective, 3:

id Description Frequency HPO Source Accession
1 microdontia rare (5%) HP:0000691
2 oligodontia HP:0000677

Drugs & Therapeutics for Tooth Agenesis, Selective, 3

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Interventional clinical trials:

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

Genetic Tests for Tooth Agenesis, Selective, 3

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Genetic tests related to Tooth Agenesis, Selective, 3:

id Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 322 PAX9

Anatomical Context for Tooth Agenesis, Selective, 3

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Animal Models for Tooth Agenesis, Selective, 3 or affiliated genes

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Publications for Tooth Agenesis, Selective, 3

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Variations for Tooth Agenesis, Selective, 3

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

67
id Symbol AA change Variation ID SNP ID
1PAX9p.Gly51SerVAR_015698

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

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1PAX9PAX9, 1-BP INS, 219GinsertionPathogenic
2PAX9NM_006194.3(PAX9): c.340A> T (p.Lys114Ter)single nucleotide variantPathogenicrs104894467GRCh37Chr 14, 37132437: 37132437
3PAX9PAX9, DELdeletionPathogenic
4PAX9NM_006194.3(PAX9): c.271A> G (p.Lys91Glu)single nucleotide variantPathogenicrs28933373GRCh37Chr 14, 37132368: 37132368
5PAX9NM_006194.3(PAX9): c.62T> C (p.Leu21Pro)single nucleotide variantPathogenicrs28933970GRCh37Chr 14, 37132159: 37132159
6PAX9PAX9, 288-BP INSinsertionPathogenic
7PAX9NM_006194.3(PAX9): c.83G> C (p.Arg28Pro)single nucleotide variantPathogenicrs28933971GRCh37Chr 14, 37132180: 37132180
8PAX9NM_006194.3(PAX9): c.76C> T (p.Arg26Trp)single nucleotide variantPathogenicrs28933972GRCh37Chr 14, 37132173: 37132173
9PAX9NM_006194.3(PAX9): c.259A> T (p.Ile87Phe)single nucleotide variantPathogenicrs104894468GRCh37Chr 14, 37132356: 37132356
10PAX9PAX9, 1-BP INS, 793CinsertionPathogenic
11PAX9PAX9, 1A-Gsingle nucleotide variantPathogenic
12PAX9PAX9, 3-BP DEL, 24-BP INS, NT619indelPathogenic
13PAX9NM_006194.3(PAX9): c.151G> A (p.Gly51Ser)single nucleotide variantPathogenicrs104894469GRCh37Chr 14, 37132248: 37132248
14PAX9PAX9, 1-BP INS, 190GinsertionPathogenic
15PAX9NM_006194.3(PAX9): c.139C> T (p.Arg47Trp)single nucleotide variantPathogenicrs121917720GRCh37Chr 14, 37132236: 37132236

Expression for genes affiliated with Tooth Agenesis, Selective, 3

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

Pathways for genes affiliated with Tooth Agenesis, Selective, 3

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GO Terms for genes affiliated with Tooth Agenesis, Selective, 3

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Sources for Tooth Agenesis, Selective, 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet