STHAG1
MCID: TTH016
MIFTS: 20

Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft (STHAG1) 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 52 12
Absence of Second Premolars and Third Molars 24 70
Tooth Agenesis, Selective, 1 24 70
Selective Tooth Agenesis 1 70 27
Hypodontia/oligodontia 1 24 70
Sthag1 24 70
 
Hyd1 24 70
Selective Tooth Agenesis with Orofacial Cleft 70
Hypodontia/oligodontia with Orofacial Cleft 70
Hypodontia, Autosomal Dominant 24
Familial Tooth Agenesis 70

Characteristics:

HPO:

64
tooth agenesis, selective, 1, with or without orofacial cleft:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 106600
MeSH39 D000848

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

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OMIM:52 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:70 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 hypodontia64 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 127
2 Tooth Agenesis, Selective, 124 MSX1

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

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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:

70
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, 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
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