MCID: TTH002
MIFTS: 40

Tooth Agenesis malady

Genetic diseases category

Summaries for Tooth Agenesis

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 In dentistry, hypodontia is the condition at which the patient has missing teeth as a result of the... more...

MalaCards: Tooth Agenesis, also known as tooth agenesis, selective, is related to cleft lip and cleft palate. An important gene associated with Tooth Agenesis is MSX1 (msh homeobox 1), and among its related pathways are Basal cell carcinoma and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone and heart, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:46 613097,106600,604625,313500

Aliases & Classifications for Tooth Agenesis

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 46OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

tooth agenesis 8 10
tooth agenesis, selective 44
selective tooth agenesis 8
familial tooth agenesis 8
hypodontia/oligodontia 8


External Ids:

Disease Ontology8 DOID:0050591

Related Diseases for Tooth Agenesis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to tooth agenesis

Clinical Features for Tooth Agenesis

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

613097,106600,604625,313500

Drugs & Therapeutics for Tooth Agenesis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Tooth Agenesis

Drug clinical trials:

Search ClinicalTrials for Tooth Agenesis

Search NIH Clinical Center for Tooth Agenesis

Search CenterWatch for Tooth Agenesis

Genetic Tests for Tooth Agenesis

About this section

Anatomical Context for Tooth Agenesis

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Tooth Agenesis:

32
Bone, Heart

Animal Models for Tooth Agenesis or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Tooth Agenesis

About this section
Sources:
50PubMed
See all sources

Articles related to Tooth Agenesis:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
WNT10A variants are associated with non-syndromic tooth agenesis in the general population. (24043634)
2014
2
The impact of tooth agenesis on oral health-related quality of life in children. (23794692)
2013
3
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population. (24278334)
2013
4
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. (23167694)
2013
5
PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. (24160254)
2013
6
Patterns of tooth agenesis in patients with orofacial clefts. (23841784)
2013
7
A comparison of skeletal maturation in patients with tooth agenesis and unaffected controls assessed by the cervical vertebral maturation (CVM) index. (24297960)
2013
8
Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population. (24312213)
2013
9
A 3-year prospective study of implant-supported, single-tooth restorations of all-ceramic and metal-ceramic materials in patients with tooth agenesis. (22708959)
2013
10
Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients. (23718693)
2013
11
Patterns of tooth agenesis in Japanese subjects with bilateral agenesis of mandibular second premolars. (22832847)
2013
12
Nonsyndromic tooth agenesis patterns and associated developmental dental anomalies: a literature review with radiographic illustrations. (23446448)
2013
13
Exclusion of pax9 and msx1 mutation in six families affected by tooth agenesis. A genetic study and literature review. (24316698)
2013
14
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). (23603338)
2013
15
Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review. (23235129)
2012
16
Patterns of Tooth Agenesis in Patients With the Syndrome of Crouzon or Apert. (23126314)
2012
17
Taurodontism in Brazilian patients with tooth agenesis and first and second-degree relatives: a case-control study. (22647425)
2012
18
Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family. (22813217)
2012
19
Msx1 mutations: how do they cause tooth agenesis? (21297014)
2011
20
The genetic basis of tooth agenesis: basic concepts and genes involved. (21911943)
2011
21
Tooth agenesis: dento-skeletal characteristics in subjects with orthodontic treatment need. (21434730)
2011
22
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (19623212)
2010
23
Frequency and characteristics of tooth agenesis among an orthodontic patient population. (20383097)
2010
24
Functional aspects of treatment with implant-supported single crowns: a quality control study in subjects with tooth agenesis. (19845708)
2010
25
Tooth agenesis patterns in bilateral cleft lip and palate. (20156264)
2010
26
Defining subphenotypes for tooth agenesis: does side matter? (20297711)
2009
27
Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis. (19515060)
2009
28
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. (19429910)
2009
29
Dental implants in patients with ectodermal dysplasia and tooth agenesis: a critical review of the literature. (19548409)
2009
30
Transforming growth factor-alfa gene (TGFA), human tooth agenesis, and evidence of segmental uniparental isodisomy. (19196314)
2009
31
Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis. (18790474)
2009
32
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)
2008
33
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (18199077)
2008
34
Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. (19641755)
2008
35
Can persistence of primary molars be predicted in subjects with multiple tooth agenesis? (18540013)
2008
36
Assessing the proposed association between tooth agenesis and taurodontism in 975 paediatric subjects. (18384350)
2008
37
Impacted primary tooth and tooth agenesis: a case report of monozygotic twins. (19212538)
2008
38
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. (16479262)
2006
39
MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. (15329380)
2004
40
Tooth agenesis: in search of mutations behind failed dental development. (15580115)
2004
41
Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. (12598542)
2003
42
The human KROX-26/ZNF22 gene is expressed at sites of tooth formation and maps to the locus for permanent tooth agenesis (He-Zhao deficiency). (14630903)
2003
43
The role of MSX1 in human tooth agenesis. (12097313)
2002
44
The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis. (11374781)
2001
45
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (10742093)
2000
46
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. (9742121)
1998
47
Can the location of tooth agenesis and the location of initial bone loss seen in juvenile periodontitis be explained by neural developmental fields in the jaws? (9083580)
1997
48
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. (8696335)
1996
49
Tooth agenesis in Down syndrome. (7762588)
1995
50
Aetiological aspects of mandibular tooth agenesis--focusing on the role of nerve, oral mucosa, and supporting tissues. (7805810)
1994

Genetic Variations for Tooth Agenesis

About this section

Expression for genes affiliated with Tooth Agenesis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Tooth Agenesis

Search GEO for disease gene expression data for Tooth Agenesis.

Pathways for genes affiliated with Tooth Agenesis

About this section
Sources:
29KEGG, 59Tocris Bioscience, 51QIAGEN, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Tooth Agenesis

About this section

GO Terms for genes affiliated with Tooth Agenesis

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Tooth Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00557810.0ENAM, MMP20, WNT8A, WNT10A

Biological processes related to Tooth Agenesis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1amelogenesisGO:09718610.3ENAM, MMP20
2bone mineralizationGO:03028210.2ENAM, AXIN2
3odontogenesis of dentin-containing toothGO:04247510.2EDA, DLX2, MSX1
4face morphogenesisGO:06032510.2DLX5, MSX1, PAX9, TGFB3
5positive regulation of epithelial to mesenchymal transitionGO:01071810.1AXIN2, TGFB3
6palate developmentGO:06002110.1TGFB3, WNT8A, DLX5
7endoderm developmentGO:00749210.0PAX9, WNT8A
8odontogenesisGO:04247610.0TGFB3, ENAM, PAX9, ZNF22, WNT10A, AXIN2

Molecular functions related to Tooth Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1frizzled bindingGO:00510910.3WNT8A, WNT10A

Products for genes affiliated with Tooth Agenesis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tooth Agenesis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet