STHAG1
MCID: TTH016
MIFTS: 20

Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft (STHAG1) malady

Categories: Genetic diseases

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

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

Name: Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 54 13
Absence of Second Premolars and Third Molars 24 66
Tooth Agenesis, Selective, 1 24 66
Selective Tooth Agenesis 1 66 29
Hypodontia/oligodontia 1 24 66
Sthag1 24 66
Hyd1 24 66
Selective Tooth Agenesis with Orofacial Cleft 66
Hypodontia/oligodontia with Orofacial Cleft 66
Hypodontia, Autosomal Dominant 24
Familial Tooth Agenesis 66

Characteristics:

HPO:

32
tooth agenesis, selective, 1, with or without orofacial cleft:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 106600
MeSH 42 D000848

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

OMIM : 54 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 tooth agenesis 11.2
2 multiple myeloma 9.9
3 colorectal cancer 9.7

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

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:

32
id Description HPO Frequency HPO Source Accession
1 hypodontia 32 HP:0000668

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

Search Clinical Trials , 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

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

id Genetic test Affiliating Genes
1 Selective Tooth Agenesis 1 29
2 Tooth Agenesis, Selective, 1 24 MSX1

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

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 MSX1 p.Arg202Pro VAR_003754 rs121913129
2 MSX1 p.Met67Lys VAR_015712 rs121913130

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MSX1 NM_002448.3(MSX1): c.605G> C (p.Arg202Pro) single nucleotide variant Pathogenic rs121913129 GRCh37 Chromosome 4, 4864563: 4864563
2 MSX1 NM_002448.3(MSX1): c.577C> T (p.Gln193Ter) single nucleotide variant Pathogenic rs104893850 GRCh37 Chromosome 4, 4864535: 4864535
3 MSX1 NM_002448.3(MSX1): c.200T> A (p.Met67Lys) single nucleotide variant Pathogenic rs121913130 GRCh37 Chromosome 4, 4861826: 4861826
4 MSX1 MSX1, 1-BP DUP, 62G duplication Pathogenic
5 MSX1 NM_002448.3(MSX1): c.910_911dupTA (p.Ter304Tyrfs) duplication Pathogenic rs515726227 GRCh37 Chromosome 4, 4864868: 4864869

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

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

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

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

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

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