MCID: TTH016
MIFTS: 21

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 50 12
Absence of Second Premolars and Third Molars 23 68
Tooth Agenesis Selective 1 68 25
Hypodontia/oligodontia 1 23 68
Sthag1 23 68
Hyd1 23 68
 
Selective Tooth Agenesis with Orofacial Cleft 68
Hypodontia/oligodontia with Orofacial Cleft 68
Hypodontia, Autosomal Dominant 23
Tooth Agenesis, Selective, 1 23
Familial Tooth Agenesis 68

Characteristics:

HPO:

62
tooth agenesis, selective, 1, with or without orofacial cleft:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 106600
MeSH37 D000848

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

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OMIM:50 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:68 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 agenesis11.4
2multiple myeloma10.0
3myeloma10.0
4colorectal cancer9.8

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 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 Selective Tooth Agenesis 125
2 Tooth Agenesis, Selective, 123 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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet