MCID: TTH002
MIFTS: 37

Tooth Agenesis malady

Genetic diseases (common), Oral diseases categories
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Summaries for Tooth Agenesis

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 tooth agenesis, selective, 1, with or without orofacial cleft. An important gene associated with Tooth Agenesis is MSX1 (msh homeobox 1), and among its related pathways are HTLV-I infection and Neural Crest Differentiation. Affiliated tissues include bone and heart, and related mouse phenotypes are respiratory system and digestive/alimentary.

Description from OMIM:47 613097,604625,106600,313500

Aliases & Classifications for Tooth Agenesis

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8Disease Ontology, 10DISEASES, 45Novoseek, 47OMIM
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Classifications:

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


Aliases & Descriptions:

tooth agenesis 8 10
tooth agenesis, selective 45
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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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Tooth Agenesis:



Diseases related to tooth agenesis

Symptoms for Tooth Agenesis

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47OMIM
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Clinical features from OMIM:

613097,604625,106600,313500

Drugs & Therapeutics for Tooth Agenesis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Tooth Agenesis

Genetic Tests for Tooth Agenesis

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Anatomical Context for Tooth Agenesis

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33MalaCards
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MalaCards organs/tissues related to Tooth Agenesis:

33
Bone, Heart

Animal Models for Tooth Agenesis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Tooth Agenesis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9EDA, PAX9, MSX1
2MP:00053818.7MSX1, PAX9, EDA
3MP:00053718.6AXIN2, MSX1, PAX9, EDA
4MP:00053798.5AXIN2, MSX1, PAX9, EDA
5MP:00053788.2LTBP3, MSX1, PAX9, EDA
6MP:00053918.2EDA, MSX1, AXIN2, LTBP3
7MP:00053827.8LTBP3, AXIN2, MSX1, PAX9, EDA
8MP:00053907.8EDA, PAX9, MSX1, AXIN2, LTBP3

Publications for Tooth Agenesis

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52PubMed
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Articles related to Tooth Agenesis:

(show top 50)    (show all 105)
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
The impact of tooth agenesis on oral health-related quality of life in children. (23794692)
2013
5
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population. (24278334)
2013
6
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
7
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. (23167694)
2013
8
PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. (24160254)
2013
9
Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population. (23964635)
2013
10
Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review. (23235129)
2012
11
TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis. (22191848)
2012
12
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. (23227268)
2012
13
Tooth agenesis in a Portuguese population. (22541886)
2012
14
Tooth agenesis: newer concept. (22900446)
2011
15
Msx1 mutations: how do they cause tooth agenesis? (21297014)
2011
16
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (19623212)
2010
17
Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: an aid for treatment planning. (20451772)
2010
18
Frequency and characteristics of tooth agenesis among an orthodontic patient population. (20383097)
2010
19
Correlation between the phenotype and genotype of tooth agenesis patients by tooth agenesis code]. (20602873)
2010
20
Tooth agenesis in patients referred to an Irish tertiary care clinic for the developmental dental disorders. (20337142)
2010
21
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
22
Defining subphenotypes for tooth agenesis: does side matter? (20297711)
2009
23
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. (18683894)
2009
24
Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis. (19515060)
2009
25
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)
2008
26
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (18657636)
2008
27
Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. (18452891)
2008
28
PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (18353002)
2008
29
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (18199077)
2008
30
Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. (19641755)
2008
31
Can persistence of primary molars be predicted in subjects with multiple tooth agenesis? (18540013)
2008
32
Research advances in tooth agenesis]. (17304318)
2007
33
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (17318851)
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
Maxillary canine anomalies and tooth agenesis. (16093260)
2005
38
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. (14607846)
2004
39
Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. (12598542)
2003
40
Tooth agenesis: a report of missing molars in two generations. (12924990)
2003
41
Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. (12974677)
2003
42
The role of MSX1 in human tooth agenesis. (12097313)
2002
43
Is tooth agenesis related to brainstem anomalies in myelomeningocele patients with Chiari II malformations? (12512882)
2002
44
The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. (10842107)
2000
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
Site-specificity of tooth agenesis in subjects with maxillary canine malpositions. (8974184)
1996
49
Tooth agenesis in Down syndrome. (7762588)
1995
50
Prevalence of tooth agenesis correlated with jaw relationship and dental crowding. (3463196)
1986

Variations for Tooth Agenesis

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Expression for genes affiliated with Tooth Agenesis

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 5Cell Signaling Technology, 54R&D Systems, 53QIAGEN
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Pathways related to Tooth Agenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5WNT10A, MSX1
29.5AXIN2, MSX1
39.5AXIN2, MSX1
49.4AXIN2, WNT10A
5
Show member pathways
Wnt Signaling Pathway NetPath38
9.4AXIN2, WNT10A
69.4WNT10A, AXIN2
7
Show member pathways
9.4AXIN2, WNT10A
89.4AXIN2, WNT10A
9
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
9.4AXIN2, WNT10A

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

idNameGO IDScoreTop Affiliating Genes
1regulation of odontogenesisGO:0424819.6MSX1, PAX9
2odontogenesis of dentin-containing toothGO:0424759.4MSX1, EDA
3face morphogenesisGO:0603259.3MSX1, PAX9
4bone morphogenesisGO:0603499.1MSX1, LTBP3
5odontogenesisGO:0424769.0AXIN2, WNT10A, PAX9

Products for genes affiliated with Tooth Agenesis

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Sources for Tooth Agenesis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet