MCID: TTH016
MIFTS: 21

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

Genetic diseases (common) category

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 49 11
Absence of Second Premolars and Third Molars 22 67
Hypodontia/oligodontia 1 22 67
Sthag1 22 67
Hyd1 22 67
Selective Tooth Agenesis with Orofacial Cleft 67
 
Hypodontia/oligodontia with Orofacial Cleft 67
Hypodontia, Autosomal Dominant 22
Tooth Agenesis, Selective, 1 22
Tooth Agenesis Selective 1 67
Familial Tooth Agenesis 67


Classifications:



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OMIM49 106600
MeSH36 D000848

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

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OMIM:49 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 colorectal cancer, and has symptoms including autosomal dominant inheritanceand hypodontia. An important gene associated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft is MSX1 (Msh Homeobox 1).

UniProtKB/Swiss-Prot:67 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). Tooth agenesis selective type 1 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 agenesis10.5
2colorectal cancer10.1
3multiple myeloma10.1
4myeloma10.1

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

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

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypodontia 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 Tooth Agenesis, Selective, 122 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:

67
id Symbol AA change Variation ID SNP ID
1MSX1p.Arg202ProVAR_003754
2MSX1p.Met67LysVAR_015712

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)single nucleotide variantPathogenicrs121913129GRCh37Chr 4, 4864563: 4864563
3MSX1NM_002448.3(MSX1): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs104893850GRCh37Chr 4, 4864535: 4864535
4MSX1NM_002448.3(MSX1): c.200T> A (p.Met67Lys)single nucleotide variantPathogenicrs121913130GRCh37Chr 4, 4861826: 4861826
5MSX1MSX1, 1-BP DUP, 62GduplicationPathogenic

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
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