MCID: TTH002
MIFTS: 51

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 . Affiliated tissues include testes, brain and breast, 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 134)
idRelated DiseaseScoreTop Affiliating Genes
1anodontia34.6COL1A2, MMP20
2tooth agenesis, selective, 1, with or without orofacial cleft12.6
3tooth agenesis, selective, 412.6
4tooth agenesis, selective, 312.6
5tooth agenesis, selective, x-linked 112.6
6dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis12.5
7tooth agenesis, selective, 212.4
8tooth agenesis, selective, 512.3
9brachymetapody anodontia hypotrichosis albinoidism12.3
10hypodontia, x-linked12.3
11microdontia hypodontia short stature12.3
12epidermolysis bullosa simplex with anodontia/hypodontia12.3
13congenital heart disease ptosis hypodontia craniostosis12.2
14hypodontia of incisors and premolars12.2
15ectodermal dysplasia 3, witkop type11.9
16oligodontia-colorectal cancer syndrome11.7
17dental anomalies and short stature11.5
18icos-related common variable immune deficiency10.5EDAR, EDARADD
19ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant10.5EDAR, EDARADD
20hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.5EDAR, EDARADD, WNT10A
21ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.5EDAR, EDARADD
22anhidrosis10.5EDA, EDAR, EDARADD
23patent ductus arteriosus10.5EDA, EDAR, EDARADD
24auriculocondylar syndrome 310.5BMP4, DSP, IRF6, MSX1
25ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.4EDAR, EDARADD
26troyer syndrome10.4EDA, EDAR, EDARADD, WNT10A
27mature cataract10.4AXIN2, EDA, EDARADD, MSX1, PAX9
28dysbaric osteonecrosis10.4IRF6, MSX1, TGFB3
29familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.4DSP, TGFB3
30spondylocostal dysostosis10.4BMP4, IRF6, MSX1, TGFB3
31emery-dreifuss muscular dystrophy, dominant type10.4EDA, EDAR, EDARADD
32frontotemporal dementia, right temporal atrophy variant10.4DSP, TGFB3
33ectodermal dysplasia, ectrodactyly, and macular dystrophy10.3
34ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.3EDA, EDAR, EDARADD, MSX1, PAX9, WNT10A
35mitf-related melanoma and renal cell carcinoma predisposition syndrome10.3DSP, TGFB3
36lymphoma10.3
37myasthenic syndrome, congenital, 2a, slow-channel10.3BMP4, FGFR1, IRF6, MSX1, TGFA, TGFB3
38lip disease10.2BMP4, FGFR1, IRF6, MSX1, PAX9, TGFA
39cholecystitis10.2IRF6, WNT10A
40schizophrenia10.2
41lung cancer10.2
42breast cancer10.2
43hemochromatosis10.2
44b-cell lymphomas10.2
45diffuse large b-cell lymphoma10.2
46dermatitis10.2
47pancreatitis10.2
48neuronitis10.2
49rheumatoid arthritis10.0
50medulloblastoma10.0

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



Diseases related to tooth agenesis

Symptoms for Tooth Agenesis

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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
Testes, Brain, Breast, Lung, Heart, Thyroid, Skin

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 125)
idTitleAuthorsYear
1
Correlation of pain, functional impairment, and health-related quality of life with radiological grading scales of lumbar degenerative disc disease. (26783024)
2016
2
An irreducible delay in manual and saccadic reaction time in amblyopia. (26326340)
2015
3
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. (25500261)
2015
4
The role of domestic tap water on Acanthamoeba keratitis in non-contact lens wearers and validation of laboratory methods. (26017346)
2015
5
Leydig cell aging and hypogonadism. (25700847)
2015
6
Plasma Renin activity and its association with ischemic heart disease, congestive heart failure, and cerebrovascular disease in a large hypertensive cohort. (25255792)
2014
7
Sepsis-induced lung inflammation is modulated by insulin. (25398720)
2014
8
CFTR gene sequencing in a group of Chilean patients with cystic fibrosis]. (25697318)
2014
9
Encephalitis claims 13 more lives as Indian government launches vaccine against one cause of the outbreak. (24128978)
2013
10
A conservative treatment for plastic bronchitis in pediatric age. (24315632)
2013
11
Malignant melanoma of the ileo-anal pouch anastomosis after restorative proctocolectomy for ulcerative colitis: report of a case. (24188588)
2013
12
Prevention of recurrent hepatitis B infection after liver transplantation. (24103275)
2013
13
Psychosis following chloroquine ingestion: a 10-year comparative study from a malaria-hyperendemic district of India. (24290896)
2013
14
Chronic myeloid leukemia with extreme thrombocytosis. (22479272)
2012
15
Stromal factors SDF1I+, sFRP1, and VEGFD induce dopaminergic neuron differentiation of human pluripotent stem cells. (22535492)
2012
16
Re: Molecular cytogenetic and genetic aspects of globozoospermia: a review. (23141272)
2012
17
A genome-wide search for promoters that respond to increased MYCN reveals both new oncogenic and tumor suppressor microRNAs associated with aggressive neuroblastoma. (21498633)
2011
18
The H63D genetic variant of the HFE gene is independently associated with the virological response to interferon and ribavirin therapy in chronic hepatitis C. (20555268)
2010
19
Two founder BRCA2 mutations predispose to breast cancer in young women. (19949853)
2010
20
Studies on molecular mechanisms of growth inhibitory effects of thymoquinone against prostate cancer cells: role of reactive oxygen species. (20511679)
2010
21
Coping with genetic testing for breast cancer susceptibility. (19124622)
2009
22
Bilateral primary adrenal non-Hodgkin's lymphoma and primary adrenocortical carcinoma--review of the literature preoperative differentiation of adrenal tumors. (18490838)
2008
23
Visual loss after transscleral diode laser cyclophotocoagulation for primary open-angle and neovascular glaucoma. (18254347)
2008
24
Prediction of mortality using measures of cardiac autonomic dysfunction in the diabetic and nondiabetic population: the MONICA/KORA Augsburg Cohort Study. (18086873)
2008
25
Glutathione S-transferase P1, maternal smoking, and asthma in children: a haplotype-based analysis. (18335111)
2008
26
Asymmetric dimethylarginine determines the improvement of endothelium-dependent vasodilation by simvastatin: Effect of combination with oral L-arginine. (17560293)
2007
27
Dopamine transporter imaging and the effects of deep brain stimulation in patients with Parkinson's disease. (17096096)
2007
28
Simultaneous inhibition of COX-2 and 5-LOX activities augments growth arrest and death of premalignant and malignant human lung cell lines. (17552358)
2007
29
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. (17167402)
2006
30
Circulating level of the platelet-derived CXC chemokine platelet factor 4 in chronic urticaria patients with or without coexistent euthyroid Hashimoto's thyroiditis. (16891214)
2006
31
p63 Immunohistochemistry in the distinction of adenoid cystic carcinoma from basaloid squamous cell carcinoma. (15529180)
2005
32
Absence of BLM leads to accumulation of chromosomal DNA breaks during both unperturbed and disrupted S phases. (15197177)
2004
33
Rab22a regulates the recycling of membrane proteins internalized independently of clathrin. (15181155)
2004
34
TGFbeta1, back to the future: revisiting its role as a transforming growth factor. (15034302)
2004
35
A brief review of recent data on some cytokine expressions at the materno-foetal interface which might challenge the classical Th1/Th2 dichotomy. (11730920)
2002
36
Favourable response to therapy with the anti-CD20 monoclonal antibody rituximab in primary chronic cold agglutinin disease. (11722415)
2001
37
Neuroprotection of grafted neurons with a GDNF/caspase inhibitor cocktail. (11476591)
2001
38
A hsp70-2 mutation recognized by CTL on a human renal cell carcinoma. (9973436)
1999
39
Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease). (9707331)
1998
40
Translocation t(4;11)(q21;q23) and MLL gene rearrangement in acute lymphoblastic leukemia secondary to anti topoisomerase II anticancer agents. (9168451)
1997
41
Is Mycobacterium xenopi an emerging pathogen? (9114153)
1997
42
Comparison between Wako-WB003 and Fungitec G tests for detection of (1-->3)-beta-D-glucan in systemic mycosis. (9058239)
1997
43
Effect of oxaloacetate and phosphorylation on ATP-citrate lyase activity. (7669753)
1995
44
Automatic analysis of high resolution atrial activation in mitral valve stenosis. (8112907)
1993
45
Pulmonary sequestration with congenital broncho-oesophageal fistula. (2289555)
1990
46
Cell-cycle defect of DNA repair in progeria skin fibroblasts. (2615778)
1989
47
Preauricular pilomatrixoma: a diagnostic pitfall. (2797740)
1989
48
Papillary renal cell carcinoma: ultrasonic/pathologic correlation. (6816828)
1982
49
Congenital mesoblastic nephroma presenting with primary reninism. (221639)
1979
50
Contagious ecthyma in man. (13113622)
1953

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