MCID: TTH016
MIFTS: 20

Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft malady

Category: Genetic diseases (common)

Aliases & Classifications for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Aliases & Descriptions for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

Name: Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 51 12
Absence of Second Premolars and Third Molars 24 69
Tooth Agenesis, Selective, 1 24 69
Selective Tooth Agenesis 1 69 26
Hypodontia/oligodontia 1 24 69
Sthag1 24 69
 
Hyd1 24 69
Selective Tooth Agenesis with Orofacial Cleft 69
Hypodontia/oligodontia with Orofacial Cleft 69
Hypodontia, Autosomal Dominant 24
Familial Tooth Agenesis 69

Characteristics:

HPO:

63
tooth agenesis, selective, 1, with or without orofacial cleft:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 106600
MeSH38 D000848

Summaries for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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OMIM:51 Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth... (106600) more...

MalaCards based summary: Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft, also known as absence of second premolars and third molars, is related to tooth agenesis and multiple myeloma, and has symptoms including hypodontia An important gene associated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft is MSX1 (Msh Homeobox 1).

UniProtKB/Swiss-Prot:69 Tooth agenesis, selective, 1: 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). STHAG1 can be associated with orofacial cleft in some patients.

Related Diseases for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Diseases related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis11.2
2multiple myeloma9.9
3colorectal cancer9.7

Symptoms for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Symptoms by clinical synopsis from OMIM:

106600

Clinical features from OMIM:

106600

Human phenotypes related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

 63
id Description HPO Frequency HPO Source Accession
1 hypodontia63 HP:0000668

Drugs & Therapeutics for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Genetic Tests for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Genetic tests related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

id Genetic test Affiliating Genes
1 Selective Tooth Agenesis 126
2 Tooth Agenesis, Selective, 124 MSX1

Anatomical Context for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Animal Models for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft or affiliated genes

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Publications for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

69
id Symbol AA change Variation ID SNP ID
1MSX1p.Arg202ProVAR_003754rs121913129
2MSX1p.Met67LysVAR_015712rs121913130

Clinvar genetic disease variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MSX1NM_002448.3(MSX1): c.910_911dupTA (p.Ter304Tyrfs)duplicationPathogenicrs515726227GRCh37Chr 4, 4864868: 4864869
2MSX1NM_002448.3(MSX1): c.605G> C (p.Arg202Pro)SNVPathogenicrs121913129GRCh37Chr 4, 4864563: 4864563
3MSX1NM_002448.3(MSX1): c.577C> T (p.Gln193Ter)SNVPathogenicrs104893850GRCh37Chr 4, 4864535: 4864535
4MSX1NM_002448.3(MSX1): c.200T> A (p.Met67Lys)SNVPathogenicrs121913130GRCh37Chr 4, 4861826: 4861826
5MSX1MSX1, 1-BP DUP, 62GduplicationPathogenicChr na, -1: -1

Expression for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Search GEO for disease gene expression data for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft.

Pathways for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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GO Terms for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Sources for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet