STHAG1
MCID: TTH010
MIFTS: 24

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 57 75
Selective Tooth Agenesis 1 75 29 6
Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 57 13
Hypodontia/oligodontia 1 57 75
Sthag1 57 75
Hyd1 57 75
Agenesis, Tooth, Selective, with or Without Orofacial Cleft, Type 1 40
Second Premolars and Third Molars, Absence of 57
Selective Tooth Agenesis with Orofacial Cleft 75
Absence of Second Premolars and Third Molars 75
Hypodontia/oligodontia with Orofacial Cleft 75
Hypodontia/oligodontia 1; Hyd1 57
Tooth Agenesis, Familial 57
Familial Tooth Agenesis 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
tooth agenesis, selective, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 106600
MeSH 44 D000848
SNOMED-CT via HPO 69 263681008 64969001

Summaries for Tooth Agenesis, Selective, 1

OMIM : 57 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 The term 'partial anodontia' is obsolete (Salinas, 1978).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 AT-101 and Hydralazine have been mentioned in the context of this disorder. Related phenotype is hypodontia.

UniProtKB/Swiss-Prot : 75 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 11.0
2 myeloma, multiple 10.0

Symptoms & Phenotypes for Tooth Agenesis, Selective, 1

Symptoms via clinical synopsis from OMIM:

57
Teeth:
hypodontia


Clinical features from OMIM:

106600

Human phenotypes related to Tooth Agenesis, Selective, 1:

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

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
AT-101 Approved, Investigational Phase 1 90141-22-3, 652-67-5 12597
2
Hydralazine Approved Phase 1 86-54-4 3637
3
Isosorbide Dinitrate Approved, Investigational Phase 1 87-33-2 6883
4
Nitric Oxide Approved Phase 1 10102-43-9 145068 160954
5 Antihypertensive Agents Phase 1
6 diuretics Phase 1
7 isosorbide-5-mononitrate Phase 1
8 Natriuretic Agents Phase 1
9 Nitric Oxide Donors Phase 1
10 Vasodilator Agents 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 29 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
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. ( 15042511 )
2004
3
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. ( 14607846 )
2004

Variations for Tooth Agenesis, Selective, 1

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

75
# 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.81dup (p.Gly28Argfs) duplication Pathogenic GRCh38 Chromosome 4, 4859980: 4859980
2 MSX1 NM_002448.3(MSX1): c.605G> C (p.Arg202Pro) single nucleotide variant Pathogenic rs121913129 GRCh37 Chromosome 4, 4864563: 4864563
3 MSX1 NM_002448.3(MSX1): c.605G> C (p.Arg202Pro) single nucleotide variant Pathogenic rs121913129 GRCh38 Chromosome 4, 4862836: 4862836
4 MSX1 NM_002448.3(MSX1): c.332C> A (p.Ser111Ter) single nucleotide variant Pathogenic rs104893852 GRCh37 Chromosome 4, 4861958: 4861958
5 MSX1 NM_002448.3(MSX1): c.332C> A (p.Ser111Ter) single nucleotide variant Pathogenic rs104893852 GRCh38 Chromosome 4, 4860231: 4860231
6 MSX1 NM_002448.3(MSX1): c.577C> T (p.Gln193Ter) single nucleotide variant Pathogenic rs104893850 GRCh37 Chromosome 4, 4864535: 4864535
7 MSX1 NM_002448.3(MSX1): c.577C> T (p.Gln193Ter) single nucleotide variant Pathogenic rs104893850 GRCh38 Chromosome 4, 4862808: 4862808
8 MSX1 NM_002448.3(MSX1): c.200T> A (p.Met67Lys) single nucleotide variant Pathogenic rs121913130 GRCh37 Chromosome 4, 4861826: 4861826
9 MSX1 NM_002448.3(MSX1): c.200T> A (p.Met67Lys) single nucleotide variant Pathogenic rs121913130 GRCh38 Chromosome 4, 4860099: 4860099
10 MSX1 NM_002448.3(MSX1): c.81dup (p.Gly28Argfs) duplication Pathogenic GRCh37 Chromosome 4, 4861707: 4861707
11 MSX1 NM_002448.3(MSX1): c.910_911dupTA (p.Ter304Tyrfs) duplication Pathogenic rs515726227 GRCh37 Chromosome 4, 4864868: 4864869
12 MSX1 NM_002448.3(MSX1): c.910_911dupTA (p.Ter304Tyrfs) duplication Pathogenic rs515726227 GRCh38 Chromosome 4, 4863141: 4863142
13 MSX1 NM_002448.3(MSX1): c.471G> T (p.Arg157Ser) single nucleotide variant Uncertain significance rs150284621 GRCh38 Chromosome 4, 4862702: 4862702
14 MSX1 NM_002448.3(MSX1): c.471G> T (p.Arg157Ser) single nucleotide variant Uncertain significance rs150284621 GRCh37 Chromosome 4, 4864429: 4864429

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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