MCID: TTH002
MIFTS: 40

Tooth Agenesis malady

Genetic diseases category

Summaries for Tooth Agenesis

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63Wikipedia, 46OMIM, 32MalaCards
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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

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 46OMIM
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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

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Tooth Agenesis:



Diseases related to tooth agenesis

Clinical Features for Tooth Agenesis

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46OMIM
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Clinical features from OMIM:

613097,106600,604625,313500

Drugs & Therapeutics for Tooth Agenesis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Tooth Agenesis

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Genetic Tests for Tooth Agenesis

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Anatomical Context for Tooth Agenesis

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32MalaCards
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MalaCards organs/tissues related to Tooth Agenesis:

32
Bone, Heart

Animal Models for Tooth Agenesis or affiliated genes

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Sources:
36MGI
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Publications for Tooth Agenesis

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50PubMed
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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
Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis. (24436340)
2014
3
MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis. (24103583)
2013
4
Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees. (23598609)
2013
5
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. (23167694)
2013
6
Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population. (23964635)
2013
7
Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study. (24379875)
2013
8
Genetics of tooth agenesis: how to move the field forward. (23857660)
2013
9
Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population. (24312213)
2013
10
Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population. (24351915)
2013
11
Functional evaluation of a novel tooth agenesis-associated bone morphogenetic protein 4 prodomain mutation. (23841782)
2013
12
Tooth agenesis association with self-reported family history of cancer. (23169889)
2013
13
Prevalence of tooth agenesis in orthodontic patient population in Western New York. (23691726)
2013
14
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations. (23991204)
2013
15
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. (23227268)
2012
16
Dentistry and molecular biology: a promising field for tooth agenesis management. (22452934)
2012
17
Tooth agenesis: newer concept. (22900446)
2011
18
MMP1 and MMP20 contribute to tooth agenesis in humans. (21144496)
2011
19
The genetic basis of tooth agenesis: basic concepts and genes involved. (21911943)
2011
20
Dental development and tooth agenesis in children with velocardiofacial syndrome. (21689177)
2011
21
Polymorphisms in CHDH gene and the risk of tooth agenesis. (21308979)
2011
22
Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: an aid for treatment planning. (20451772)
2010
23
Tooth agenesis patterns in bilateral cleft lip/palate (BCLP) indicate possible common genetic pathways. (21093815)
2010
24
Msh homebox-1 polymorphisms and susceptibility to 198 sporadic tooth agenesis: a case-control study]. (20450679)
2010
25
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
26
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. (18683894)
2009
27
Genetic basis of tooth agenesis. (19219933)
2009
28
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)
2008
29
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (18657636)
2008
30
PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (18353002)
2008
31
When should we extract deciduous teeth and place implants in young individuals with tooth agenesis? (18181934)
2008
32
Research advances in tooth agenesis]. (17304318)
2007
33
The role of MSX1 in tooth agenesis in Iranians. (17559452)
2007
34
A numeric code for identifying patterns of human tooth agenesis: a new approach. (16630299)
2006
35
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. (16479262)
2006
36
MSX1 and orofacial clefting with and without tooth agenesis. (16723652)
2006
37
Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. (16432638)
2006
38
Maxillary canine anomalies and tooth agenesis. (16093260)
2005
39
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. (14607846)
2004
40
Tooth agenesis: in search of mutations behind failed dental development. (15580115)
2004
41
Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. (12974677)
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
Is tooth agenesis related to brainstem anomalies in myelomeningocele patients with Chiari II malformations? (12512882)
2002
44
Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields. (12490878)
2002
45
The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. (10842107)
2000
46
Pili torti et canaliculi and agenesis of the teeth: report of a new "pure" hair-tooth ectodermal dysplasia in a Norwegian family. (11182937)
2000
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
The effect of tooth agenesis on dentofacial structures. (9071047)
1997
49
Prevalence of tooth agenesis and peg-shaped maxillary lateral incisor associated with palatally displaced canine (PDC) anomaly. (8876497)
1996
50
Prevalence of tooth agenesis correlated with jaw relationship and dental crowding. (3463196)
1986

Genetic Variations for Tooth Agenesis

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Expression for genes affiliated with Tooth Agenesis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tooth Agenesis

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Pathways for genes affiliated with Tooth Agenesis

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29KEGG, 59Tocris Bioscience, 51QIAGEN, 37NCBI BioSystems Database
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Compounds for genes affiliated with Tooth Agenesis

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GO Terms for genes affiliated with Tooth Agenesis

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16Gene Ontology
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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

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Sources for Tooth Agenesis

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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