MCID: TTH002
MIFTS: 40

Tooth Agenesis malady

Genetic diseases category

Summaries for Tooth Agenesis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 cleft palate. An important gene associated with Tooth Agenesis is MSX1 (msh homeobox 1), and among its related pathways are Basal cell carcinoma and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone and heart, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:46 613097,106600,604625,313500

Aliases & Classifications for Tooth Agenesis

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 46OMIM
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Classifications:

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


Aliases & Descriptions:

tooth agenesis 8 10
tooth agenesis, selective 44
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

Clinical Features for Tooth Agenesis

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46OMIM
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Clinical features from OMIM:

613097,106600,604625,313500

Drugs & Therapeutics for Tooth Agenesis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Tooth Agenesis

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Genetic Tests for Tooth Agenesis

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Anatomical Context for Tooth Agenesis

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32MalaCards
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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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Sources:
36MGI
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Publications for Tooth Agenesis

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50PubMed
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Articles related to Tooth Agenesis:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
The impact of tooth agenesis on oral health-related quality of life in children. (23794692)
2013
2
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population. (24278334)
2013
3
PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. (24160254)
2013
4
Patterns of tooth agenesis in patients with orofacial clefts. (23841784)
2013
5
A comparison of skeletal maturation in patients with tooth agenesis and unaffected controls assessed by the cervical vertebral maturation (CVM) index. (24297960)
2013
6
Novel missense mutation in PAX9 gene associated with familial tooth agenesis. (22747565)
2013
7
Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients. (23718693)
2013
8
Novel PAX9 mutation associated with syndromic tooth agenesis. (24028587)
2013
9
Patterns of tooth agenesis in Japanese subjects with bilateral agenesis of mandibular second premolars. (22832847)
2013
10
Nonsyndromic tooth agenesis patterns and associated developmental dental anomalies: a literature review with radiographic illustrations. (23446448)
2013
11
Tooth agenesis patterns in unilateral cleft lip and palate in humans. (23295124)
2013
12
Exclusion of pax9 and msx1 mutation in six families affected by tooth agenesis. A genetic study and literature review. (24316698)
2013
13
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). (23603338)
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
Tooth agenesis in a Portuguese population. (22541886)
2012
17
Patterns of Tooth Agenesis in Patients With the Syndrome of Crouzon or Apert. (23126314)
2012
18
Taurodontism in Brazilian patients with tooth agenesis and first and second-degree relatives: a case-control study. (22647425)
2012
19
Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family. (22813217)
2012
20
Msx1 mutations: how do they cause tooth agenesis? (21297014)
2011
21
Severe hypodontia: identifying patterns of human tooth agenesis. (20660128)
2011
22
Prevalence and patterns of permanent tooth agenesis in Down syndrome and their association with craniofacial morphology. (21208078)
2011
23
Tooth agenesis: dento-skeletal characteristics in subjects with orthodontic treatment need. (21434730)
2011
24
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (19623212)
2010
25
Frequency and characteristics of tooth agenesis among an orthodontic patient population. (20383097)
2010
26
Correlation between the phenotype and genotype of tooth agenesis patients by tooth agenesis code]. (20602873)
2010
27
Tooth agenesis in patients referred to an Irish tertiary care clinic for the developmental dental disorders. (20337142)
2010
28
Functional aspects of treatment with implant-supported single crowns: a quality control study in subjects with tooth agenesis. (19845708)
2010
29
Tooth agenesis patterns in bilateral cleft lip and palate. (20156264)
2010
30
Defining subphenotypes for tooth agenesis: does side matter? (20297711)
2009
31
Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis. (19515060)
2009
32
Dental implants in patients with ectodermal dysplasia and tooth agenesis: a critical review of the literature. (19548409)
2009
33
Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. (18452891)
2008
34
Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. (19641755)
2008
35
Can persistence of primary molars be predicted in subjects with multiple tooth agenesis? (18540013)
2008
36
Assessing the proposed association between tooth agenesis and taurodontism in 975 paediatric subjects. (18384350)
2008
37
Impacted primary tooth and tooth agenesis: a case report of monozygotic twins. (19212538)
2008
38
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (17318851)
2007
39
MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. (15329380)
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
The role of MSX1 in human tooth agenesis. (12097313)
2002
43
Tooth agenesis and craniofacial morphology in an orthodontic population. (12142896)
2002
44
The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis. (11374781)
2001
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
Site-specificity of tooth agenesis in subjects with maxillary canine malpositions. (8974184)
1996
48
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. (8696335)
1996
49
Tooth agenesis in Down syndrome. (7762588)
1995
50
Aetiological aspects of mandibular tooth agenesis--focusing on the role of nerve, oral mucosa, and supporting tissues. (7805810)
1994

Genetic Variations for Tooth Agenesis

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Expression for genes affiliated with Tooth Agenesis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tooth Agenesis

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Pathways for genes affiliated with Tooth Agenesis

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29KEGG, 59Tocris Bioscience, 51QIAGEN, 37NCBI BioSystems Database
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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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Cellular components related to Tooth Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00557810.0ENAM, MMP20, WNT8A, WNT10A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1amelogenesisGO:09718610.3ENAM, MMP20
2bone mineralizationGO:03028210.2ENAM, AXIN2
3odontogenesis of dentin-containing toothGO:04247510.2EDA, DLX2, MSX1
4face morphogenesisGO:06032510.2DLX5, MSX1, PAX9, TGFB3
5positive regulation of epithelial to mesenchymal transitionGO:01071810.1AXIN2, TGFB3
6palate developmentGO:06002110.1TGFB3, WNT8A, DLX5
7endoderm developmentGO:00749210.0PAX9, WNT8A
8odontogenesisGO:04247610.0TGFB3, ENAM, PAX9, ZNF22, WNT10A, AXIN2

Molecular functions related to Tooth Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1frizzled bindingGO:00510910.3WNT8A, WNT10A

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet