MCID: TTH002
MIFTS: 43

Tooth Agenesis malady

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

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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 based summary: Tooth Agenesis, also known as hypodontia, 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 HTLV-I infection and Neural Crest Differentiation. Affiliated tissues include bone and heart, and related mouse phenotypes are respiratory system and digestive/alimentary.

Disease Ontology:8 A tooth disease characterized by failure to develop on or more missing teeth.

Descriptions from OMIM:46 150400, 604625, 610926, 106600, 613097 313500, 602639 more

Aliases & Classifications for Tooth Agenesis

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 46OMIM, 27ICD9CM
See all sources

Tooth Agenesis, Aliases & Descriptions:

Name: Tooth Agenesis 8 10
Hypodontia 8 44
Tooth Agenesis, Selective 44
 
Selective Tooth Agenesis 8
Familial Tooth Agenesis 8
Oligodontia 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050591
ICD9CM27 520.0

Related Diseases for Tooth Agenesis

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Diseases related to Tooth Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 219)
idRelated DiseaseScoreTop Affiliating Genes
1cleft lip30.4PAX9, MSX1
2cleft palate30.1PAX9, MSX1
3tooth agenesis, selective, 1, with or without orofacial cleft10.5
4deafness oligodontia syndrome10.4
5tooth agenesis, selective, 210.3
6tooth agenesis, selective, 310.3
7tooth agenesis, selective, x-linked, 110.3
8tooth agenesis, selective, 410.3
9pol iii-related leukodystrophies10.3
10ectodermal dysplasia10.3
11down syndrome10.3
12orofacial cleft10.3
13cleft palate stapes fixation oligodontia10.3
14leukodystrophy with oligodontia10.3
15oligodontia-colorectal cancer syndrome10.3
16microdontia hypodontia short stature10.2
17tooth and nail syndrome10.2
18hypotrichosis10.2
19colorectal cancer10.2
20taurodontism10.2
21tooth agenesis, selective, 110.2
22tooth agenesis, selective, 510.2
23tooth agenesis, selective, 610.2
24amelogenesis imperfecta10.1
25hypodontia, x-linked10.1
26anodontia10.1
27cleft lip palate oligodontia syndactyly pili torti10.1
28syringomas natal teeth oligodontia10.1
29hypogonadotropism10.1
30adult syndrome10.1
31hypogonadism10.1
32congenital heart disease ptosis hypodontia craniostosis10.1
33dentin dysplasia10.0PAX9, MSX1
34velocardiofacial syndrome10.0
35cervicitis10.0
36congenital heart disease10.0
37hypothyroidism10.0
38ovarian cancer10.0
39periodontitis10.0
40myelomeningocele10.0
41pierre robin sequence10.0
42johanson-blizzard syndrome10.0
43cherubism10.0
44wolf-hirschhorn syndrome10.0
45leukodystrophy10.0
46dermatoosteolysis kirghizian type10.0
47martinez monasterio pinheiro syndrome10.0
48oto-palato-digital syndrome type 210.0
49ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
50sotos syndrome10.0

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



Diseases related to tooth agenesis

Symptoms for Tooth Agenesis

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Clinical features from OMIM:

150400,604625,610926,106600,613097,313500,602639

Drugs & Therapeutics for Tooth Agenesis

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Drug clinical trials:

Search ClinicalTrials for Tooth Agenesis

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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MalaCards organs/tissues related to Tooth Agenesis:

32
Bone, Heart

Animal Models for Tooth Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Tooth Agenesis:

36
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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Articles related to Tooth Agenesis:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Prevalence and patterns of tooth agenesis among Malay children. (24968691)
2014
2
Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population. (24737523)
2014
3
Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis. (25203534)
2014
4
Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study. (25041097)
2014
5
WNT10A variants are associated with non-syndromic tooth agenesis in the general population. (24043634)
2014
6
Colorectal cancer and self-reported tooth agenesis. (24607150)
2014
7
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis. (25101640)
2014
8
MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis. (24103583)
2013
9
The impact of tooth agenesis on oral health-related quality of life in children. (23794692)
2013
10
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population. (24278334)
2013
11
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
12
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. (23167694)
2013
13
PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. (24160254)
2013
14
Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review. (23235129)
2012
15
TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis. (22191848)
2012
16
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. (23227268)
2012
17
Tooth agenesis: newer concept. (22900446)
2011
18
Msx1 mutations: how do they cause tooth agenesis? (21297014)
2011
19
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (19623212)
2010
20
Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: an aid for treatment planning. (20451772)
2010
21
Frequency and characteristics of tooth agenesis among an orthodontic patient population. (20383097)
2010
22
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
23
Defining subphenotypes for tooth agenesis: does side matter? (20297711)
2009
24
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. (18683894)
2009
25
Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis. (19515060)
2009
26
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)
2008
27
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (18657636)
2008
28
Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. (18452891)
2008
29
PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (18353002)
2008
30
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (18199077)
2008
31
Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. (19641755)
2008
32
Can persistence of primary molars be predicted in subjects with multiple tooth agenesis? (18540013)
2008
33
Research advances in tooth agenesis]. (17304318)
2007
34
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (17318851)
2007
35
A numeric code for identifying patterns of human tooth agenesis: a new approach. (16630299)
2006
36
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. (16479262)
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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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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Pathways related to Tooth Agenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5WNT10A, MSX1
29.5MSX1, AXIN2
39.5AXIN2, MSX1
49.4WNT10A, AXIN2
5
Show member pathways
Wnt Signaling Pathway NetPath37
9.4WNT10A, AXIN2
69.4WNT10A, AXIN2
7
Show member pathways
9.4WNT10A, AXIN2
89.4AXIN2, WNT10A
9
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.4WNT10A, AXIN2

Compounds for genes affiliated with Tooth Agenesis

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GO Terms for genes affiliated with Tooth Agenesis

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet