MCID: TTH002
MIFTS: 52

Tooth Agenesis malady

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Tooth Agenesis

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Sources:
10Disease Ontology, 12DISEASES, 47Novoseek, 51Orphanet, 36MeSH, 27ICD10, 29ICD9CM, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Tooth Agenesis:

Name: Tooth Agenesis 10 12
Selective Tooth Agenesis 10 51
Oligodontia 10 51
Hypodontia 10 47
 
Tooth Agenesis, Selective 47
Familial Tooth Agenesis 10
Anodontia 36

Characteristics:

Orphanet epidemiological data:

51
selective tooth agenesis:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0050591
ICD1027 K00.0
ICD9CM29 520.0
MeSH36 D000848
Orphanet51 99798
ICD10 via Orphanet28 K00.0
UMLS65 C0399352

Summaries for Tooth Agenesis

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Wikipedia:68 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 selective tooth agenesis, is related to anodontia and tooth agenesis, selective, 1, with or without orofacial cleft, and has symptoms including taurodontia, abnormality of dental enamel and delayed eruption of teeth. An important gene associated with Tooth Agenesis is PAX9 (Paired Box 9), and among its related pathways are Elastic fibre formation and TGF-beta signaling pathway (KEGG). Affiliated tissues include heart, lung and bone, and related mouse phenotypes are respiratory system and no phenotypic analysis.

Disease Ontology:10 A tooth disease characterized by failure to develop on or more missing teeth.

Related Diseases for Tooth Agenesis

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1anodontia30.4COL1A2, MMP20
2tooth agenesis, selective, 1, with or without orofacial cleft12.2
3tooth agenesis, selective, 412.2
4tooth agenesis, selective, 312.2
5tooth agenesis, selective, x-linked 112.2
6dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis12.2
7tooth agenesis, selective, 212.0
8tooth agenesis, selective, 512.0
9hypodontia, x-linked11.9
10microdontia hypodontia short stature11.9
11epidermolysis bullosa simplex with anodontia/hypodontia11.9
12congenital heart disease ptosis hypodontia craniostosis11.9
13hypodontia of incisors and premolars11.9
14ectodermal dysplasia 3, witkop type11.5
15oligodontia-colorectal cancer syndrome11.3
16dental anomalies and short stature11.1
17icos-related common variable immune deficiency10.8EDAR, EDARADD
18ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant10.8EDAR, EDARADD
19hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.8EDAR, EDARADD, WNT10A
20ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.8EDAR, EDARADD
21anhidrosis10.7EDA, EDAR, EDARADD
22patent ductus arteriosus10.7EDA, EDAR, EDARADD
23auriculocondylar syndrome 310.7BMP4, DSP, IRF6, MSX1
24ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.7EDAR, EDARADD
25troyer syndrome10.7EDA, EDAR, EDARADD, WNT10A
26mature cataract10.7AXIN2, EDA, EDARADD, MSX1, PAX9
27dysbaric osteonecrosis10.7IRF6, MSX1, TGFB3
28familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.7DSP, TGFB3
29spondylocostal dysostosis10.6BMP4, IRF6, MSX1, TGFB3
30emery-dreifuss muscular dystrophy, dominant type10.6EDA, EDAR, EDARADD
31frontotemporal dementia, right temporal atrophy variant10.6DSP, TGFB3
32ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.5EDA, EDAR, EDARADD, MSX1, PAX9, WNT10A
33mitf-related melanoma and renal cell carcinoma predisposition syndrome10.5DSP, TGFB3
34myasthenic syndrome, congenital, 2a, slow-channel10.4BMP4, FGFR1, IRF6, MSX1, TGFA, TGFB3
35lip disease10.3BMP4, FGFR1, IRF6, MSX1, PAX9, TGFA
36cholecystitis10.3IRF6, WNT10A
37cleft lip10.1
38ectodermal dysplasia10.0
39orofacial cleft10.0
40down syndrome10.0
41ectodermal dysplasia, ectrodactyly, and macular dystrophy9.9
42colorectal cancer9.9
43taurodontism9.9
44velocardiofacial syndrome9.8
45myelomeningocele9.8
46heart disease9.8
47hypothyroidism9.8
48congenital heart disease9.8
49ovarian cancer9.8
50cervicitis9.8

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



Diseases related to tooth agenesis

Symptoms for Tooth Agenesis

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Symptoms:

 51 (show all 8)
  • face/facial anomalies
  • hypoplastic mandibula/partial absence of the mandibula
  • tooth shape anomaly
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance

HPO human phenotypes related to Tooth Agenesis:

(show all 7)
id Description Frequency HPO Source Accession
1 taurodontia hallmark (90%) HP:0000679
2 abnormality of dental enamel hallmark (90%) HP:0000682
3 delayed eruption of teeth hallmark (90%) HP:0000684
4 dental malocclusion hallmark (90%) HP:0000689
5 reduced number of teeth hallmark (90%) HP:0009804
6 micrognathia hallmark (90%) HP:0000347
7 microdontia hallmark (90%) HP:0000691

Drugs & Therapeutics for Tooth Agenesis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Linkage and Identification of (a) Candidate Gene(s) for Tooth DisordersRecruitingNCT00026026
2Hypodontia and Ovarian CancerRecruitingNCT01470235
3Clinical and Genetic Studies on HoloprosencephalyRecruitingNCT00088426
4Study of Selected X-Linked Disorders: Aicardi SyndromeRecruitingNCT00697411

Search NIH Clinical Center for Tooth Agenesis


Cochrane evidence based reviews: anodontia

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:

33
Heart, Lung, Bone, B cells, Breast, Endothelial, Testes

Animal Models for Tooth Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Tooth Agenesis:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538810.1BMP4, EDARADD, LRP6, MSX1, PAX9, PITX2
2MP:000301210.0AXIN2, BMP4, FGF3, FGFR1, LRP6, MSX1
3MP:000537910.0AXIN2, BMP4, EDAR, EDARADD, FGFR1, MSX1
4MP:00053699.8BMP4, COL1A2, DSP, FGFR1, MSX1, PAX9
5MP:00028739.8AXIN2, BMP4, COL1A2, FGF3, FGFR1, LRP6
6MP:00053779.8BMP4, EDARADD, FGF3, FGFR1, IRF6, LRP6
7MP:00053899.7AXIN2, BMP4, CHDH, EDARADD, FGF3, FGFR1
8MP:00053809.7AXIN2, BMP4, DSP, FGF3, FGFR1, IRF6
9MP:00053869.7BMP4, COL1A2, EDARADD, FGF3, FGFR1, LRP6
10MP:00036319.6AXIN2, BMP4, DSP, EDARADD, FGF3, FGFR1
11MP:00107719.6BMP4, COL1A2, DSP, EDAR, EDARADD, FGFR1
12MP:00053859.6AXIN2, BMP4, COL1A2, DSP, FGFR1, MSX1
13MP:00053919.6AXIN2, BMP4, EDAR, EDARADD, FGFR1, LRP6
14MP:00053819.6BMP4, DSP, EDAR, FGFR1, IRF6, LRP6
15MP:00053849.4AXIN2, BMP4, CHDH, COL1A2, DSP, EDAR
16MP:00053719.4AXIN2, BMP4, COL1A2, EDAR, EDARADD, FGF3
17MP:00107689.0AXIN2, BMP4, COL1A2, DSP, EDAR, EDARADD
18MP:00053829.0AXIN2, BMP4, DSP, EDAR, EDARADD, FGFR1
19MP:00053908.9AXIN2, BMP4, COL1A2, FGF3, FGFR1, IRF6
20MP:00053788.5AXIN2, BMP4, COL1A2, DSP, EDAR, EDARADD

Publications for Tooth Agenesis

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Articles related to Tooth Agenesis:

(show top 50)    (show all 132)
idTitleAuthorsYear
1
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis. (27090353)
2016
2
DNA methylation is critical for tooth agenesis: implications for sporadic non-syndromic anodontia and hypodontia. (26759063)
2016
3
Prevalence of Tooth Agenesis in Adolescent Chinese Populations with or without Orthodontics. (25815384)
2015
4
Permanent Tooth Agenesis and Maxillary Hypoplasia in Patients with Unilateral Cleft Lip and Palate. (26505722)
2015
5
Prevalence and patterns of tooth agenesis among Malay children. (24968691)
2014
6
Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population. (24737523)
2014
7
Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis. (25203534)
2014
8
Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study. (25041097)
2014
9
WNT10A variants are associated with non-syndromic tooth agenesis in the general population. (24043634)
2014
10
A study of prevalence and distribution of tooth agenesis. (25713620)
2014
11
Colorectal cancer and self-reported tooth agenesis. (24607150)
2014
12
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis. (25101640)
2014
13
MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis. (24103583)
2013
14
The impact of tooth agenesis on oral health-related quality of life in children. (23794692)
2013
15
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population. (24278334)
2013
16
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
17
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. (23167694)
2013
18
Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review. (23235129)
2012
19
TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis. (22191848)
2012
20
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. (23227268)
2012
21
Tooth agenesis: newer concept. (22900446)
2011
22
Msx1 mutations: how do they cause tooth agenesis? (21297014)
2011
23
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (19623212)
2010
24
Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: an aid for treatment planning. (20451772)
2010
25
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
26
Defining subphenotypes for tooth agenesis: does side matter? (20297711)
2009
27
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. (18683894)
2009
28
Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis. (19515060)
2009
29
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)
2008
30
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (18657636)
2008
31
Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. (18452891)
2008
32
PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (18353002)
2008
33
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (18199077)
2008
34
Research advances in tooth agenesis]. (17304318)
2007
35
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (17318851)
2007
36
A numeric code for identifying patterns of human tooth agenesis: a new approach. (16630299)
2006
37
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. (16479262)
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
Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. (12598542)
2003
41
Tooth agenesis: a report of missing molars in two generations. (12924990)
2003
42
Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. (12974677)
2003
43
The role of MSX1 in human tooth agenesis. (12097313)
2002
44
Is tooth agenesis related to brainstem anomalies in myelomeningocele patients with Chiari II malformations? (12512882)
2002
45
The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. (10842107)
2000
46
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (10742093)
2000
47
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. (9742121)
1998
48
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
49
Site-specificity of tooth agenesis in subjects with maxillary canine malpositions. (8974184)
1996
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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Search GEO for disease gene expression data for Tooth Agenesis.

Pathways 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 Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1regulation of odontogenesisGO:004248110.9MSX1, PAX9
2positive regulation of NF-kappaB import into nucleusGO:004234610.8EDA, EDAR
3secondary heart field specificationGO:000313910.8AXIN2, BMP4
4organ inductionGO:000175910.8BMP4, FGFR1
5regulation of odontogenesis of dentin-containing toothGO:004248710.8BMP4, WNT10A
6embryonic hindlimb morphogenesisGO:003511610.7BMP4, MSX1
7positive regulation of SMAD protein import into nucleusGO:006039110.7BMP4, TGFB3
8positive regulation of cell cycleGO:004578710.7FGFR1, LRP6
9pigmentationGO:004347310.6EDA, EDAR
10positive regulation of epithelial cell proliferationGO:005067910.6BMP4, TGFA
11salivary gland morphogenesisGO:000743510.6FGFR1, TGFB3
12wound healingGO:004206010.5BMP4, TGFA, TGFB3
13face morphogenesisGO:006032510.5LRP6, MSX1, PAX9, TGFB3
14skeletal system developmentGO:000150110.3BMP4, COL1A2, FGFR1
15positive regulation of canonical Wnt signaling pathwayGO:009026310.3AXIN2, EDA, LRP6
16odontogenesis of dentin-containing toothGO:004247510.2BMP4, EDA, EDAR, PITX2
17odontogenesisGO:004247610.2AXIN2, BMP4, MSX1, PITX2, TGFB3, WNT10A
18lung developmentGO:003032410.1BMP4, FGFR1, PITX2
19positive regulation of gene expressionGO:001062810.0BMP4, EDA, EDAR, WNT10A
20Wnt signaling pathwayGO:00160559.9AXIN2, LRP6, PITX2, WNT10A
21embryonic limb morphogenesisGO:00303269.8BMP4, FGFR1, MSX1

Sources for Tooth Agenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet