STHAG1
MCID: TTH010
MIFTS: 26

Tooth Agenesis, Selective, 1 (STHAG1)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 1

MalaCards integrated aliases for Tooth Agenesis, Selective, 1:

Name: Tooth Agenesis, Selective, 1 58 76
Selective Tooth Agenesis 1 76 30 6
Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 58 13
Hypodontia/oligodontia 1 58 76
Sthag1 58 76
Hyd1 58 76
Agenesis, Tooth, Selective, with or Without Orofacial Cleft, Type 1 41
Second Premolars and Third Molars, Absence of 58
Selective Tooth Agenesis with Orofacial Cleft 76
Absence of Second Premolars and Third Molars 76
Hypodontia/oligodontia with Orofacial Cleft 76
Hypodontia/oligodontia 1; Hyd1 58
Tooth Agenesis, Familial 58
Familial Tooth Agenesis 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
tooth agenesis, selective, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 106600
MeSH 45 D000848
SNOMED-CT via HPO 70 263681008 64969001

Summaries for Tooth Agenesis, Selective, 1

OMIM : 58 Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. 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). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). (106600)

MalaCards based summary : Tooth Agenesis, Selective, 1, also known as selective tooth agenesis 1, is related to tooth agenesis and myeloma, multiple. An important gene associated with Tooth Agenesis, Selective, 1 is MSX1 (Msh Homeobox 1). The drugs Nitric Oxide and AT-101 have been mentioned in the context of this disorder. Related phenotype is hypodontia.

UniProtKB/Swiss-Prot : 76 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

Diseases in the Tooth Agenesis, Selective, 1 family:

Tooth Agenesis, Selective, 4 Tooth Agenesis, Selective, 2
Tooth Agenesis, Selective, 3 Tooth Agenesis, Selective, 5
Tooth Agenesis, Selective, 7 Tooth Agenesis, Selective, 8
Tooth Agenesis, Selective, 9

Diseases related to Tooth Agenesis, Selective, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tooth agenesis 11.2
2 myeloma, multiple 10.2
3 colorectal cancer 9.9
4 tooth agenesis, selective, 3 9.9
5 oligodontia-colorectal cancer syndrome 9.9

Graphical network of the top 20 diseases related to Tooth Agenesis, Selective, 1:



Diseases related to Tooth Agenesis, Selective, 1

Symptoms & Phenotypes for Tooth Agenesis, Selective, 1

Human phenotypes related to Tooth Agenesis, Selective, 1:

33
# Description HPO Frequency HPO Source Accession
1 hypodontia 33 HP:0000668

Symptoms via clinical synopsis from OMIM:

58
Teeth:
hypodontia

Clinical features from OMIM:

106600

Drugs & Therapeutics for Tooth Agenesis, Selective, 1

Drugs for Tooth Agenesis, Selective, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 1 10102-43-9 145068
2
AT-101 Approved, Investigational Phase 1 90141-22-3, 652-67-5 12597
3
Hydralazine Approved Phase 1 86-54-4 3637
4
Isosorbide Dinitrate Approved, Investigational Phase 1 87-33-2 6883
5 diuretics Phase 1
6 Antihypertensive Agents Phase 1
7 Natriuretic Agents Phase 1
8 Vasodilator Agents Phase 1
9 isosorbide-5-mononitrate Phase 1
10 Nitric Oxide Donors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Comparison of Various Combinations of BiDil Capsules and BiDil Tablets in Healthy Human Volunteers Completed NCT01587313 Phase 1 Isosorbide dinitrate / hydralazine capsules
2 Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders Unknown status NCT00026026

Search NIH Clinical Center for Tooth Agenesis, Selective, 1

Genetic Tests for Tooth Agenesis, Selective, 1

Genetic tests related to Tooth Agenesis, Selective, 1:

# Genetic test Affiliating Genes
1 Selective Tooth Agenesis 1 30 MSX1

Anatomical Context for Tooth Agenesis, Selective, 1

Publications for Tooth Agenesis, Selective, 1

Articles related to Tooth Agenesis, Selective, 1:

# Title Authors Year
1
Novel missense mutation in PAX9 gene associated with familial tooth agenesis. ( 22747565 )
2013
2
Novel MSX1 frameshift causes autosomal-dominant oligodontia. ( 16498076 )
2006
3
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. ( 14607846 )
2004
4
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. ( 15042511 )
2004
5
A novel MSX1 mutation in hypodontia. ( 15264286 )
2004
6
The role of MSX1 in human tooth agenesis. ( 12097313 )
2002
7
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. ( 10742093 )
2000
8
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. ( 9742121 )
1998
9
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. ( 8696335 )
1996

Variations for Tooth Agenesis, Selective, 1

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 1:

76
# 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:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSX1 NM_002448.3(MSX1): c.200T> A (p.Met67Lys) single nucleotide variant Pathogenic rs121913130 GRCh37 Chromosome 4, 4861826: 4861826
2 MSX1 NM_002448.3(MSX1): c.200T> A (p.Met67Lys) single nucleotide variant Pathogenic rs121913130 GRCh38 Chromosome 4, 4860099: 4860099
3 MSX1 NM_002448.3(MSX1): c.81dup (p.Gly28Argfs) duplication Pathogenic rs1553877821 GRCh37 Chromosome 4, 4861707: 4861707
4 MSX1 NM_002448.3(MSX1): c.81dup (p.Gly28Argfs) duplication Pathogenic rs1553877821 GRCh38 Chromosome 4, 4859980: 4859980
5 MSX1 NM_002448.3(MSX1): c.910_911dup (p.Ter304Tyrfs) duplication Pathogenic rs515726227 GRCh37 Chromosome 4, 4864868: 4864869
6 MSX1 NM_002448.3(MSX1): c.910_911dup (p.Ter304Tyrfs) duplication Pathogenic rs515726227 GRCh38 Chromosome 4, 4863141: 4863142
7 MSX1 NM_002448.3(MSX1): c.471G> T (p.Arg157Ser) single nucleotide variant Uncertain significance rs150284621 GRCh37 Chromosome 4, 4864429: 4864429
8 MSX1 NM_002448.3(MSX1): c.471G> T (p.Arg157Ser) single nucleotide variant Uncertain significance rs150284621 GRCh38 Chromosome 4, 4862702: 4862702
9 MSX1 NM_002448.3(MSX1): c.577C> T (p.Gln193Ter) single nucleotide variant Pathogenic rs104893850 GRCh38 Chromosome 4, 4862808: 4862808
10 MSX1 NM_002448.3(MSX1): c.577C> T (p.Gln193Ter) single nucleotide variant Pathogenic rs104893850 GRCh37 Chromosome 4, 4864535: 4864535
11 MSX1 NM_002448.3(MSX1): c.332C> A (p.Ser111Ter) single nucleotide variant Pathogenic rs104893852 GRCh38 Chromosome 4, 4860231: 4860231
12 MSX1 NM_002448.3(MSX1): c.332C> A (p.Ser111Ter) single nucleotide variant Pathogenic rs104893852 GRCh37 Chromosome 4, 4861958: 4861958
13 MSX1 NM_002448.3(MSX1): c.605G> C (p.Arg202Pro) single nucleotide variant Pathogenic rs121913129 GRCh38 Chromosome 4, 4862836: 4862836
14 MSX1 NM_002448.3(MSX1): c.605G> C (p.Arg202Pro) single nucleotide variant Pathogenic rs121913129 GRCh37 Chromosome 4, 4864563: 4864563

Expression for Tooth Agenesis, Selective, 1

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 1.

Pathways for Tooth Agenesis, Selective, 1

GO Terms for Tooth Agenesis, Selective, 1

Sources for Tooth Agenesis, Selective, 1

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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