MCID: TTH012
MIFTS: 17

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 52 24 70 12 68
Selective Tooth Agenesis 3 70 27
Hypodontia/oligodontia 3 24 70
 
Sthag3 24 70
Hyd3 70

Characteristics:

HPO:

64
tooth agenesis, selective, 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 604625
MedGen37 C1970291
MeSH39 D000848

Summaries for Tooth Agenesis, Selective, 3

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UniProtKB/Swiss-Prot:70 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:52 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 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:

idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis, selective, 1, with or without orofacial cleft11.0

Symptoms & Phenotypes for Tooth Agenesis, Selective, 3

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Symptoms by clinical synopsis from OMIM:

604625

Clinical features from OMIM:

604625

Human phenotypes related to Tooth Agenesis, Selective, 3:

 64
id Description HPO Frequency HPO Source Accession
1 microdontia64 rare (5%) HP:0000691
2 oligodontia64 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, 327 24 PAX9

Anatomical Context for Tooth Agenesis, Selective, 3

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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:

70
id Symbol AA change Variation ID SNP ID
1PAX9p.Gly51SerVAR_015698rs104894469

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, 219GinsertionPathogenicChr na, -1: -1
2PAX9NM_006194.3(PAX9): c.340A> T (p.Lys114Ter)SNVPathogenicrs104894467GRCh37Chr 14, 37132437: 37132437
3PAX9PAX9, DELdeletionPathogenicChr na, -1: -1
4PAX9NM_006194.3(PAX9): c.271A> G (p.Lys91Glu)SNVPathogenicrs28933373GRCh37Chr 14, 37132368: 37132368
5PAX9NM_006194.3(PAX9): c.62T> C (p.Leu21Pro)SNVPathogenicrs28933970GRCh37Chr 14, 37132159: 37132159
6PAX9PAX9, 288-BP INSinsertionPathogenicChr na, -1: -1
7PAX9NM_006194.3(PAX9): c.83G> C (p.Arg28Pro)SNVPathogenicrs28933971GRCh37Chr 14, 37132180: 37132180
8PAX9NM_006194.3(PAX9): c.76C> T (p.Arg26Trp)SNVPathogenicrs28933972GRCh37Chr 14, 37132173: 37132173
9PAX9NM_006194.3(PAX9): c.259A> T (p.Ile87Phe)SNVPathogenicrs104894468GRCh37Chr 14, 37132356: 37132356
10PAX9PAX9, 1-BP INS, 793CinsertionPathogenicChr na, -1: -1
11PAX9PAX9, 1A-GSNVPathogenicChr na, -1: -1
12PAX9PAX9, 3-BP DEL, 24-BP INS, NT619indelPathogenicChr na, -1: -1
13PAX9NM_006194.3(PAX9): c.151G> A (p.Gly51Ser)SNVPathogenicrs104894469GRCh37Chr 14, 37132248: 37132248
14PAX9PAX9, 1-BP INS, 190GinsertionPathogenicChr na, -1: -1
15PAX9NM_006194.3(PAX9): c.139C> T (p.Arg47Trp)SNVPathogenicrs121917720GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet