Summaries for Tooth Agenesis

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22MalaCards
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MalaCards: Tooth Agenesis, also known as tooth agenesis, selective, is related to oligodontia and ectodermal dysplasia. An important gene associated with Tooth Agenesis is STHAG5 (tooth agenesis, selective, 5), and among its related pathways are 14-3-3 Induced Intracellular Signaling and p53 Mediated Apoptosis. The compounds batimastat and hydroxyapatite have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and skeleton.

Aliases & Descriptions for Tooth Agenesis

Sources:
6Disease Ontology, 8DISEASES, 32Novoseek , 33OMIM
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Aliases & Descriptions:

tooth agenesis 6 8
tooth agenesis, selective 32
selective tooth agenesis 6
familial tooth agenesis 6
hypodontia/oligodontia 6

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Related Diseases for Tooth Agenesis

Sources:
13GeneCards, 14GeneDecks
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Diseases related to tooth agenesis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1oligodontia27.9PAX9, EDARADD, EDA, LTBP3, DLX2, MSX1
2ectodermal dysplasia27.6IRF6, MSX1, CDH3, TNF, DLX2, EDAR
3orofacial cleft27.5CHDH, MSX1, CDH1, IRF6, TGFA, AXIN2
4hypodontia27.5PAX9, MSX1, IRF6, HYD2, PITX2, LTBP3
5hypohidrotic ectodermal dysplasia13.3EDARADD, EDAR, EDA
6hypohidrosis13.3EDAR, EDA, EDARADD
7anodontia13.3PITX2, AXIN2, EDARADD
8ectrodactyly13.2CDH3, DLX5, FGF8
9kallmann syndrome 113.2KAL1, FGFR1
10taurodontism13.1EDA, DSPP
11hereditary diffuse gastric cancer13.1CDH1, CDH3
12gonadotropin deficiency13.0PROK2, PROKR2, FGFR1, KAL1
13craniofacial anomalies13.0MSX2, FGF8, ENAM, RUNX2
14polydactyly13.0MNX1, MSX2, MSX1, BMP4, FGF8
15syndactyly13.0DLX2, FGF8, FGFR1, MSX2
16synostosis13.0BMP4, MSX1, FGFR1, MSX2
17acrocephalosyndactylia12.9RUNX2, FGFR1, MSX2
18birth defects12.9IRF6, TGFA, MSX1, BMP4
19infectious mononucleosis12.9RUNX2, FGFR1, FGF8
20amelia cleft lip palate hydrocephalus iris coloboma12.9IRF6, TGFA, FGFR1
21saethre-chotzen syndrome12.8RUNX2, FGFR1, MSX2
22dentinogenesis imperfecta12.8MSX1, ENAM, MMP20, DSPP
23delayed puberty12.8FGFR1, CHD7, KAL1
24cleidocranial dysplasia12.8MSX2, TGFA, RUNX2
25ankylosis12.7DLX2, FGFR1, DSPP
26amelogenesis imperfecta12.6DSPP, ENAM, MMP20, MSX2, MSX1
27pediatric cns embryonal cell carcinoma12.6FGFR1, FGF8, MSX2, BMP4
28dentin dysplasia12.5MMP20, DSPP, ENAM, MSX2, PAX9, MSX1
29craniosynostosis12.5MSX2, FGF8, DLX5, RUNX2, FGFR1
30anosmia12.5KAL1, FGF8, FGFR1, PROK2, PROKR2, CHD7
31renal agenesis12.5PROKR2, KAL1, PROK2, FGFR1, FGF8, CHD7
32kallmann syndrome12.5FGFR1, FGF8, CHD7, KAL1, PROKR2, PROK2
33hypogonadotropism12.5CHD7, PROK2, PROKR2, FGFR1, FGF8, KAL1
34hypotrichosis12.5EDARADD, DSPP, CDH3, EDA, EDAR
35polycystic kidney disease12.3MSX2, ENAM, TNF, ANKS6, TGFA
36mayer-rokitansky-kuster-hauser syndrome12.2KAL1, BMP4, FGFR1, EDA, EDARADD, RUNX2
37twinning12.1CHD7, PAX9, IRF6, EDAR, EDA, TNF
38klinefelter's syndrome12.0FGFR1, TNF, PROK2, PROKR2, CHD7, KAL1
39hypogonadism12.0PROKR2, PROK2, TNF, FGFR1, CHD7, KAL1
40fasciitis11.9PITX2, TNF, MMP1
41pulpitis11.9DSPP, TNF, MMP1
42oral submucous fibrosis11.9TGFA, TNF, MMP1
43chordoma11.8CDH3, CDH1, MMP1, TGFA
44pituitary adenoma11.7BMP4, CDH1, FGFR1, PITX2, TGFA, CDH3
45cerebellar hypoplasia11.7CHD7, BMP4, KAL1, RUNX2, DSPP, PITX2
46prostate cancer, progression of11.6CDH1, FGFR1, FGF8, CDH3, MMP1
47oral lichen planus11.5MMP1, TNF, BMP4, CDH1
48cutaneous malignant melanoma11.3MMP1, TNF, CDH1, TGFA, CDH3
49boomerang dysplasia11.3CDH3, CDH1, DSPP, TGFA, RUNX2, CHD7
50glaucoma11.2MMP1, CDH1, TNF, LTBP3, BMP4, PITX2

Graphical network of the top 20 diseases related to tooth agenesis:



Graphical network of diseases related to tooth agenesis

Clinical Features for Tooth Agenesis

Drugs & Therapeutics for Tooth Agenesis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Tooth Agenesis

Anatomical Context for Tooth Agenesis

Phenotypes for genes affiliated with Tooth Agenesis

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25MGI
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MGI Mouse Phenotypes related to tooth agenesis:

25 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1hearing/vestibular/ear phenotypeMP:00053778.3EDARADD, DLX5, DLX2, FGFR1, FGF8, IRF6
2skeleton phenotypeMP:00053908.0RUNX2, TGFA, EDA, LTBP3, PITX2, FGFR1
3respiratory system phenotypeMP:00053887.8DLX5, PITX2, EDA, EDARADD, RUNX2, DLX2
4muscle phenotypeMP:00053697.3RUNX2, TGFA, PITX2, DLX5, DLX2, TNF
5behavior/neurological phenotypeMP:00053867.1TNF, DLX2, DLX5, LTBP3, EDARADD, PROKR2
6embryogenesis phenotypeMP:00053807.1PITX2, DLX5, TNF, FGFR1, FGF8, CDH1
7vision/eye phenotypeMP:00053916.9PITX2, LTBP3, EDA, EDARADD, TGFA, RUNX2
8limbs/digits/tail phenotypeMP:00053716.8TNF, DLX5, PITX2, EDA, EDAR, EDARADD
9cellular phenotypeMP:00053846.7RUNX2, PROKR2, EDAR, PITX2, DLX5, FGFR1
10immune system phenotypeMP:00053876.7TNF, PITX2, LTBP3, EDA, TGFA, FGFR1
11integument phenotypeMP:00107716.6EDA, EDAR, EDARADD, TGFA, PROKR2, RUNX2
12nervous system phenotypeMP:00036316.5DLX5, PITX2, EDA, EDARADD, PROK2, PROKR2
13reproductive system phenotypeMP:00053896.3TNF, PITX2, EDA, EDARADD, TGFA, PROKR2
14cardiovascular system phenotypeMP:00053856.3TNF, DLX2, DLX5, PITX2, EDA, TGFA
15digestive/alimentary phenotypeMP:00053816.0TNF, DLX2, DLX5, PITX2, EDA, EDAR
16endocrine/exocrine gland phenotypeMP:00053795.7TNF, PITX2, EDA, EDAR, EDARADD, TGFA
17growth/size phenotypeMP:00053785.6DLX2, DLX5, PITX2, LTBP3, EDA, EDARADD
18mortality/agingMP:00107685.5TNF, DLX2, DLX5, PITX2, EDA, EDAR
19craniofacial phenotypeMP:00053825.4BMP4, DLX5, PITX2, LTBP3, EDA, EDAR

Publications for genes affiliated with Tooth Agenesis

Sources:
35PubMed
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Articles related to tooth agenesis:

(show all 30)
idTitleAuthorsYearAffiliating Genes
1MMP1 and MMP20 contribute to tooth agenesis in humans . (21144496)KA1chler E.C.... Vieira A.R.2011MMP1, MMP20
2Functional analysis of Ectodysplasin-A mutations caus ing selective tooth agenesis. (19623212)Mues G.... D'Souza R.N.2010EDA
3Msh homebox-1 polymorphisms and susceptibility to 19 8 sporadic tooth agenesis: a case-control study (20450679)Wang H.... Zhang W.B.2010MSX1
4Transforming growth factor-alfa gene (TGFA), human tooth agenesis, and evidence of segmental uniparental isodisomy. (19196314)Callahan N.... Vieira A.R.2009TNF, TGFA
5From ectodermal dysplasia to selective tooth agenesis . (19504606)Mues G.I.... D'Souza R.2009EDA, EDAR, EDARADD
6Pathogenic mechanisms of tooth agenesis linked to pai red domain mutations in human PAX9. (19429910)Wang Y.... Kapadia H.2009PAX9, MSX1
7Genetic basis of tooth agenesis. (19219933)Nieminen P.2009PAX9, MSX1
8Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis. (18790474)Callahan N.... Vieira A.R.2009AXIN2, PAX9
9Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (18657636)Han D.... Song S.2008PAX9, MSX1, EDA
10Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. (18452891)Vieira A.R.... Menezes R.2008IRF6
11Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (18199077)Swinnen S.... Carels C.2008PAX9, MSX1, DLX2
12Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)Li S.... Hua Z.C.2008EDA
13AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. (18683894)Letra A.... Vieira A.R.2008CDH1, AXIN2
14PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (18353002)Pan Y.... Huang Y.2008PAX9
15Research advances in tooth agenesis (17304318)Feng H.L.... Wu H.2007RUNX2, PITX2
16The role of MSX1 in tooth agenesis in Iranians. (17559452)Seifi M.... Golkar P.2007MSX1
17Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (17318851)Vieira A.R.... Murray J.C.2007FGFR1, IRF6
18Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. (16479262)Kapadia H.... D'Souza R.N.2006PAX9, MSX1
19Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. (16432638)Mostowska A.... Jagodzinski P.P.2006AXIN2, PAX9, MSX1
20Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. (14607846)Mensah J.K.... D'Souza R.N.2004PAX9
21MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. (15329380)Vieira A.R.... Murray J.C.2004TGFA, PAX9
22Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. (15042511)Lammi L.... Nieminen P.2004AXIN2
23Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. (12974677)Mostowska A.... Trzeciak W.H.2003PAX9, MSX1
24The 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)Gao Y.... Ganss B.2003ZNF22
25The role of MSX1 in human tooth agenesis. (12097313)Lidral A.C.... Reising B.C.2002MSX1
26Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields. (12490878)Peck S.... Kataja M.2002PAX9, MSX1
27The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis. (11374781)Kobielak A.... Trzeciak W.H.2001PAX9
28MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (10742093)van den Boogaard M.J.... van Amstel H.K.2000MSX1
29Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. (9742121)Hu G.... Abate-Shen C.1998MSX1
30A human MSX1 homeodomain missense mutation causes selective tooth agenesis. (8696335)Vastardis H.... Seidman C.E.1996MSX1

Expression for genes affiliated with Tooth Agenesis

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Tooth Agenesis

Pathways for genes affiliated with Tooth Agenesis

Sources:
36QIAGEN, 20KEGG
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Pathways related to tooth agenesis according to GeneDecks:

(show all 36)
idPathwayScoreTop Affiliating Genes
114-3-3 Induced Intracellular Signaling369.7LTBP3, TNF, FGF8, BMP4
2p53 Mediated Apoptosis369.4TGFA, LTBP3, FGFR1, FGF8, BMP4
3Telomerase Components in Cell Signaling369.4TGFA, LTBP3, FGFR1, FGF8, BMP4
4Mitochondrial Apoptosis369.4TGFA, LTBP3, FGFR1, FGF8, BMP4
5DHA Signaling369.4TGFA, LTBP3, FGFR1, FGF8, BMP4
6ERK5 Signaling369.3TGFA, LTBP3, FGFR1, FGF8, BMP4
7eIF2 Pathway369.3TGFA, LTBP3, FGFR1, FGF8, BMP4
8Nuclear Receptor Activation by Vitamin-A369.3TGFA, LTBP3, FGFR1, FGF8, BMP4
9Nanog in Mammalian ESC Pluripotency369.3WNT8A, TGFA, LTBP3, FGFR1, FGF8, BMP4
10Rac1 Pathway369.3BMP4, FGF8, FGFR1, LTBP3, TGFA
11Actin-Based Motility by Rho Family GTPases369.3TGFA, LTBP3, FGFR1, FGF8, BMP4
12p70S6K Signaling369.2BMP4, FGF8, FGFR1, LTBP3, TGFA
13IP3 Pathway369.2TGFA, LTBP3, FGFR1, FGF8, BMP4
14Activation of PKC through GPCR369.2TGFA, LTBP3, FGFR1, FGF8, BMP4
15Paxillin Interactions369.2BMP4, FGF8, FGFR1, LTBP3, TGFA
16Renin-Angiotensin Pathway369.1TGFA, LTBP3, FGFR1, FGF8, BMP4
17Rap1 Pathway369.0BMP4, FGF8, FGFR1, LTBP3, TGFA
18Ras Pathway368.9TGFA, LTBP3, FGFR1, FGF8, BMP4
19Apoptotic Pathways in Synovial Fibroblasts368.9TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
20NF-KappaB (p50-p65) Pathway368.9TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
21NF-KappaB Family Pathway368.9TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
22Cellular Apoptosis Pathway368.9TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
23PPAR Pathway368.9TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
24PAK Pathway368.9TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
25MAPK Family Pathway368.8TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
26Tec Kinases Signaling368.8TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
27TGF-Beta Pathway368.8TGFA, LTBP3, FGFR1, FGF8, CDH1, BMP4
28Epithelial Adherens Junctions368.8TGFA, LTBP3, FGFR1, FGF8, CDH1, BMP4
29Colorectal Cancer Metastasis368.6WNT8A, TNF, MMP1, CDH1, AXIN2
30p38 Signaling368.5BMP4, FGF8, FGFR1, TNF, LTBP3, TGFA
31GSK3 Signaling368.5BMP4, WNT8A, TGFA, LTBP3, FGFR1, FGF8
32Pancreatic Adenocarcinoma368.5TGFA, LTBP3, FGFR1, FGF8, MMP20, MMP1
33Antioxidant Action of Vitamin-C368.2TGFA, LTBP3, TNF, FGFR1, FGF8, BMP4
34ILK Signaling368.1TGFA, LTBP3, TNF, FGFR1, FGF8, CDH1
35Rho Family GTPases368.1TGFA, LTBP3, TNF, FGFR1, FGF8, CDH1
36Pathways in cancer207.9WNT8A, TGFA, FGFR1, FGF8, MMP1, CDH1

Compounds for genes affiliated with Tooth Agenesis

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB
See all sources

Compounds related to tooth agenesis according to GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1batimastat32 42 9 9 12.1MMP1, MMP20, TGFA
2hydroxyapatite32 9.0RUNX2, DSPP, ENAM, CDH1
3alendronate32 9 9 10.9MMP1, DSPP, RUNX2
4retinoid32 8.3RUNX2, FGF8, MMP1, CDH1, BMP4
5ribonucleic acid32 8.2RUNX2, TGFA, FGFR1, MMP1, BMP4
6ly29400232 8.1RUNX2, TGFA, TNF, FGFR1, CDH1, BMP4
7calcitriol32 42 9 18 9 11.9TGFA, DSPP, TNF, MMP1, CDH1
8ascorbic acid32 18 8.8RUNX2, TGFA, DSPP, MMP1, BMP4
9tgf beta132 7.8BMP4, CDH1, MMP1, TNF, TGFA, RUNX2
10sb 20358032 42 8.6RUNX2, TNF, FGFR1, MMP1, CDH1, BMP4
11pge232 7.5RUNX2, TGFA, TNF, MMP1, CDH1, BMP4
12pd 98,05932 7.3RUNX2, TGFA, TNF, FGFR1, MMP1, CDH1
13lactate32 7.1TGFA, DSPP, TNF, FGFR1, MMP1, CDH1
14vegf32 7.1RUNX2, PROK2, TGFA, TNF, FGFR1, MMP1
15retinoic acid32 42 18 8.8RUNX2, TGFA, TNF, FGFR1, FGF8, MMP1
16serine32 6.1RUNX2, TGFA, DSPP, PITX2, TNF, FGFR1

GO Terms for genes affiliated with Tooth Agenesis

Sources:
12Gene Ontology
See all sources

Cellular components related to tooth agenesis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055788.1BMP4, KAL1, MMP1, MMP20, ENAM, DSPP

Biological processes related to tooth agenesis according to GeneDecks:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1regulation of odontogenesisGO:04248110.5MSX1, PAX9
2BMP signaling pathway involved in heart developmentGO:06131210.5MSX2, MSX1
3embryonic nail plate morphogenesisGO:03588010.4MSX2, MSX1
4trachea gland developmentGO:06115310.4EDARADD, EDA
5amelogenesisGO:09718610.4ENAM, MMP20
6epithelial to mesenchymal transition involved in endocardial cushion formationGO:00319810.3FGF8, MSX2, MSX1
7face morphogenesisGO:06032510.3DLX5, MSX1, PAX9
8signal transduction involved in regulation of gene expressionGO:02301910.3MSX1, MSX2, FGF8
9deltoid tuberosity developmentGO:03599310.1PITX2, BMP4
10positive regulation of BMP signaling pathwayGO:03051310.1BMP4, MSX1, MSX2
11palate developmentGO:06002110.1CHD7, MSX1, DLX5, WNT8A
12regulation of odontogenesis of dentin-containing toothGO:04248710.1FGF8, BMP4
13positive regulation of NF-kappaB import into nucleusGO:0423469.9EDAR, EDA, TNF
14salivary gland cavitationGO:0606629.8CDH1, EDA, EDAR
15embryonic hindlimb morphogenesisGO:0351169.8PITX2, FGF8, MSX2, MSX1, BMP4
16cellular response to growth factor stimulusGO:0713639.7BMP4, PAX9, MSX2
17osteoblast differentiationGO:0016499.7RUNX2, DLX5, MSX2, BMP4
18cranial suture morphogenesisGO:0603639.6MSX2, BMP4
19odontogenesis of dentin-containing toothGO:0424759.6EDARADD, EDAR, EDA, DLX2, MSX1, BMP4
20regulation of branching involved in salivary gland morphogenesisGO:0606939.6TNF, CDH1
21positive regulation of mitosisGO:0458409.6TGFA, TNF, FGF8
22odontogenesisGO:0424769.6ZNF22, PITX2, ENAM, FGF8, AXIN2, PAX9
23inner ear morphogenesisGO:0424729.5CHD7, FGFR1, DLX5
24MAPK cascadeGO:0001659.3TGFA, TNF, FGFR1, FGF8
25negative regulation of cell proliferationGO:0082859.2TNF, IRF6, MSX2, MSX1, AXIN2, BMP4
26skeletal system developmentGO:0015019.0DSPP, DLX5, FGFR1, CHD7
27positive regulation of transcription from RNA polymerase II promoterGO:0459448.9PITX2, DLX5, DLX2, TNF, MSX1, PAX9
28negative regulation of transcription from RNA polymerase II promoterGO:0001228.8PITX2, DLX2, TNF, FGFR1, MSX2, MSX1

Sources for Tooth Agenesis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS