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MCID: TTH002
MIFTS: 62

Tooth Agenesis

Categories: Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Tooth Agenesis

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MalaCards integrated aliases for Tooth Agenesis:

Name: Tooth Agenesis 12 37 6 15 17
Oligodontia 12 59 29 6
Selective Tooth Agenesis 12 59 6
Hypodontia 12 55 40
Tooth Agenesis, Selective 55
Familial Tooth Agenesis 12
Anodontia 44

Characteristics:

Orphanet epidemiological data:

59
oligodontia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0050591
KEGG 37 H00625
ICD9CM 35 520.0
MeSH 44 D000848
SNOMED-CT 68 16958000 26624006
ICD10 33 K00.0
ICD10 via Orphanet 34 K00.0
Orphanet 59 ORPHA99798
UMLS 72 C0399352
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Summaries for Tooth Agenesis

About this section
KEGG : 37
Tooth agenesis, or hypodontia/origodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the oral epithelium and an underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait.

MalaCards based summary : Tooth Agenesis, also known as oligodontia, is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia. An important gene associated with Tooth Agenesis is PAX9 (Paired Box 9), and among its related pathways/superpathways are Wnt signaling pathway and Nanog in Mammalian ESC Pluripotency. The drugs Amoxicillin and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and salivary gland, and related phenotypes are micrognathia and microdontia

Disease Ontology : 12 A tooth disease characterized by failure to develop on or more missing teeth.

Wikipedia : 75 Hypodontia is defined as the developmental absence of one or more teeth (excluding the third molars)... more...

Sources

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 341)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 32.5 EDARADD EDAR
2 ectodermal dysplasia 31.7 WNT10A EDARADD EDAR EDA DSP
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.4 WNT10A PAX9 MSX1 EDARADD EDAR EDA
4 cleft lip/palate 31.3 TGFA MSX1 IRF6 FGFR1 CDH1 BMP4
5 anodontia 31.2 PAX9 MSX1 EDARADD EDA AXIN2
6 cleft palate, isolated 31.1 TGFB3 TGFA PAX9 MSX1 IRF6 FGFR1
7 cleft lip and alveolus 31.0 MSX1 IRF6
8 tooth size 31.0 PAX9 MSX1 BMP4
9 hypohidrotic ectodermal dysplasia autosomal recessive 31.0 WNT10A EDARADD EDAR
10 cleft lip 30.7 TGFB3 TGFA SUMO1 PAX9 MSX1 IRF6
11 orofacial cleft 30.7 SUMO1 MSX1 IRF6 BMP4
12 split hand-foot malformation 30.5 WNT10B SUMO1 FGFR1
13 tooth agenesis, selective, 1 12.8
14 tooth agenesis, selective, 4 12.8
15 tooth agenesis, selective, 3 12.7
16 tooth agenesis, selective, x-linked, 1 12.7
17 tooth agenesis, selective, 7 12.6
18 tooth agenesis, selective, 8 12.6
19 tooth agenesis, selective, 9 12.6
20 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.6
21 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.6
22 malposition of teeth with or without hypodontia/oligodontia 12.5
23 tooth agenesis, selective, 5 12.4
24 hypodontia, x-linked 12.4
25 microdontia hypodontia short stature 12.4
26 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 12.3
27 brachymetapody-anodontia-hypotrichosis-albinoidism 12.3
28 tooth agenesis, selective, 2 12.3
29 facial dysmorphism, selective tooth agenesis, and choroid calcification 12.2
30 witkop syndrome 12.2
31 epidermolysis bullosa simplex with anodontia/hypodontia 12.2
32 cleft palate, deafness, and oligodontia 12.2
33 split-hand and split-foot with hypodontia 12.2
34 congenital heart disease ptosis hypodontia craniostosis 12.2
35 cleft lip palate oligodontia syndactyly pili torti 12.2
36 cleft palate stapes fixation oligodontia 12.2
37 polr3-related leukodystrophy 12.1
38 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.1
39 oligodontia-colorectal cancer syndrome 12.1
40 adult syndrome 12.0
41 dermatoosteolysis, kirghizian type 11.9
42 deafness-oligodontia syndrome 11.9
43 zadik barak levin syndrome 11.9
44 dental anomalies and short stature 11.6
45 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.5
46 ectodermal dysplasia 13, hair/tooth type 11.5
47 martinez monasterio pinheiro syndrome 11.5
48 mehta lewis patton syndrome 11.4
49 dentin dysplasia, type i 11.4
50 rapp-hodgkin syndrome 11.4

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



Diseases related to Tooth Agenesis
Sources

Symptoms & Phenotypes for Tooth Agenesis

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Human phenotypes related to Tooth Agenesis:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
2 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
3 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
4 oligodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000677
5 abnormality of the face 59 Very frequent (99-80%)
6 abnormality of dental morphology 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Tooth Agenesis:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.41 AXIN2 BMP4 DSP EDAR EDARADD FGFR1
2 growth/size/body region MP:0005378 10.38 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
3 digestive/alimentary MP:0005381 10.34 BMP4 CDH1 DSP EDAR FGFR1 IRF6
4 cellular MP:0005384 10.29 AXIN2 BMP4 CDH1 DSP EDAR FGFR1
5 behavior/neurological MP:0005386 10.27 BMP4 EDARADD FGFR1 GREM2 LRP6 MSX1
6 cardiovascular system MP:0005385 10.21 AXIN2 BMP4 CDH1 DSP EDAR FGFR1
7 embryo MP:0005380 10.21 AXIN2 BMP4 CDH1 DSP FGFR1 IRF6
8 endocrine/exocrine gland MP:0005379 10.19 AXIN2 BMP4 CDH1 EDAR EDARADD FGFR1
9 mortality/aging MP:0010768 10.18 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
10 integument MP:0010771 10.17 BMP4 CDH1 DSP EDAR EDARADD FGFR1
11 limbs/digits/tail MP:0005371 10.14 AXIN2 BMP4 EDAR EDARADD FGFR1 IRF6
12 hearing/vestibular/ear MP:0005377 10 BMP4 EDARADD FGFR1 IRF6 LRP6 MSX1
13 normal MP:0002873 9.91 AXIN2 BMP4 CDH1 FGFR1 LRP6 MSX1
14 muscle MP:0005369 9.87 BMP4 DSP FGFR1 MSX1 PAX9 TGFA
15 reproductive system MP:0005389 9.81 AXIN2 BMP4 CDH1 EDAR EDARADD FGFR1
16 skeleton MP:0005390 9.77 AXIN2 BMP4 EDAR EDARADD FGFR1 GREM2
17 vision/eye MP:0005391 9.32 AXIN2 BMP4 EDAR EDARADD FGFR1 GREM2
Sources

Drugs & Therapeutics for Tooth Agenesis

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Drugs for Tooth Agenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
2
Ibuprofen Approved Phase 4 15687-27-1 3672
3 Acetaminophen, hydrocodone drug combination Phase 4
4 Pharmaceutical Solutions Phase 4
5
Cobalt Approved, Experimental 7440-48-4 104729
6
Lithium carbonate Approved 554-13-2
7
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
8
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
9 Antibodies
10 Immunologic Factors
11 Immunoglobulins
12 Immunoglobulin Fc Fragments
13 Tranquilizing Agents
14 Antidepressive Agents
15 Antimanic Agents
16 Central Nervous System Depressants
17 Psychotropic Drugs
18 Antifungal Agents
19 Keratolytic Agents
20 Dermatologic Agents
21 Buchu
22 Anti-Infective Agents

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 The Effectiveness of the Cytoplast Technique in Preventing Bone Loss Around Immediate Implant Placement in the Esthetic Zone. A Randomized Clinical Trial. Completed NCT01628367 Phase 4 Medications
2 A Phase III, Randomized, Controlled Clinical Trial of Lateral Ridge Augmentation Using Autogenous Bone Blocks or Xenogenic Bone Block Grafts Loaded With Recombinant Human Bone Morphogenic Protein 2 Active, not recruiting NCT01541345 Phase 3 InductOs
3 Cephalometric Indicators of Biological Responsiveness to Orthodontic Treatment of Class II/I in Growing Patients Completed NCT00248014 Phase 2
4 A Histomorphometric Analysis of New Bone Formation Following Sinus Augmentation Using Two Different Bone Graft Materials. A Pilot Study in Humans. Active, not recruiting NCT03059914 Phase 1
5 Hypodontia and Ovarian Cancer - the Connection Between Dental Agenesis and Epithelial Cancers, Especially Ovarian Cancer. Unknown status NCT01470235
6 Clinical and Radiological Outcomes Study on Astra Tech Osseospeed Tx Profile Implant Unknown status NCT01510470
7 Clinical Study on Zirconia Bridges Unknown status NCT01835834
8 Immediate and Early Loading of Hydrothermally Treated, Hydroxyapatite-Coated Dental Implants:a Controlled Randomized Prospective Clinical Study Unknown status NCT02397044
9 A Single-centre Randomised Controlled Clinical Trial of Zirconia-based Versus Metal-based Adhesive Bridges for Replacing 2 Missing Teeth or Less in Adults. Unknown status NCT01347177
10 Is a Primer Needed for Orthodontic Bonding? A Multi-centre RCT Unknown status NCT01782521
11 A Comparison of Zirconia CAD/CAM and Conventionally Fabricated Single Implant Abutments and Restorations in the Esthetic Zone: a Randomized Controlled Clinical Trial. Unknown status NCT01229995
12 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
13 A Pilot Study Investigating Oral Health Related Quality of Life Improvements in Removable Partial Denture Treatments for the Replacement of Missing Teeth Completed NCT01953991
14 Platform Switching vs Regular Platform Implants. One Year Results From a RCT Completed NCT02123420
15 A Comparative, Randomized, Prospective, Clinical Study to Evaluate the Facial Bone and Esthetic Outcome of Buccal Augmentation Bone Grafting Techniques in Early (Type 2) Implant Placement Completed NCT03302143
16 Frequency of Hypodontia After Chemotherapy in Childhood Cancer Survivors: A Cross Sectional Study Recruiting NCT03445026
17 Orodental Manifestations of Rare Diseases Recruiting NCT02397824
18 One-Tooth One-Time (1T1T) A Straightforward Approach to Replace Missing Teeth in the Posterior Region: a Case Series Recruiting NCT02898311
19 Comparison of Different Drilling Speed to Classify Bone Quality by Tactile Sensation on a Saw Bone Model Recruiting NCT03877419
20 Autotransplantation of Teeth With Advanced or Completed Root Development With Intraoperative Extra-corporal Apicoectomy Recruiting NCT04041518
21 Evaluation of the Efficacy of Clear Aligners in the Correction of Severe Dental Crowding Cases Combined With Premolar Extraction Versus Vestibular Fixed Orthodontic Appliances: A Randomized Clinical Controlled Trial Recruiting NCT03645356
22 A Prospective, Single-Centre, Post-Market Study to Evaluate the Use of Polyetheretherketone (PEEK) Full-Arch Implant-Supported Prostheses in the Edentulous Jaw Recruiting NCT03655990
23 Novel Use of 2-unit Cantilever Resin-bonded Bridges for Replacing Missing Molar Teeth - a Randomized Clinical Trial Recruiting NCT02239718
24 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
25 REFRAME RPD Post-Market Clinical Study Active, not recruiting NCT03198520
26 Correlation Study Between Socio-economical Deprivation and Oral Health in in French Children of 9 Years of Age in 2017. A Nationwide Database Retrospective Observational Cohort Study Active, not recruiting NCT03817437
27 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
28 Clinical Evaluation of Chairside Computer Assisted Design/Computer Assisted Machining (CAD/CAM) Lithium Disilicate Fixed Partial Dentures (FPD) Active, not recruiting NCT03036566
29 The Effect of Platform-Matching Versus Platform-Switching Using Standard Internal Versus Tapered Internal Plus Dental Implants on Peri-implant Hard and Soft Tissue Healing Active, not recruiting NCT02536716
30 A Proof of Concept for All-ceramic Zirconia Resin Bonded Bridges for Canine, Premolar and Short Span Posterior Teeth Official Title: Enrolling by invitation NCT02793037
31 Evaluation of Retention of Metal Reinforced Polyamide Denture Base Compared to Conventional Heat Cured Acrylic Resin Denture Base in Complete Mandibular Denture Not yet recruiting NCT03385746
32 Evaluation of the Effect of Slopped Shoulder Implant Neck Versus Conventional Implant Neck Design on the Crestal Bone Level in the Maxilla: Randomized Clinical Trial (RCT) Not yet recruiting NCT03614442
33 No-preparation Resin Bonded Bridges for the Replacement of Single Missing Teeth Not yet recruiting NCT03029637
34 Clinical Assessment Of Inlay Retained Bridge Designs (Tub Shaped And Inlay Shaped) In Missing Posterior Teeth Cases. Not yet recruiting NCT03715842
35 Observational, Case-Series Study Evaluation of Bone Width and Dental Implant Stability When Using the Densah Burâ„¢ Bone Compaction Process to Prepare Dental Implant Sites Withdrawn NCT02502058

Search NIH Clinical Center for Tooth Agenesis

Cochrane evidence based reviews: anodontia

Sources

Genetic Tests for Tooth Agenesis

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Genetic tests related to Tooth Agenesis:

# Genetic test Affiliating Genes
1 Oligodontia 29
Sources

Anatomical Context for Tooth Agenesis

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MalaCards organs/tissues related to Tooth Agenesis:

41
Bone, Eye, Salivary Gland, Brain, Heart, Liver, Thyroid
Sources

Publications for Tooth Agenesis

About this section

Articles related to Tooth Agenesis:

(show top 50) (show all 1008)
# Title Authors PMID Year
1
EDA gene mutations underlie non-syndromic oligodontia. 9 38 71
19278982 2009
2
A novel missense mutation in the paired domain of human PAX9 causes oligodontia. 9 38 71
17910065 2007
3
[Novel mutations of PAX9 gene in Chinese patients with oligodontia]. 9 38 71
16191360 2005
4
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. 9 38 71
14689302 2004
5
Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. 9 38 71
12786960 2003
6
A novel mutation in human PAX9 causes molar oligodontia. 9 38 71
11827258 2002
7
Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. 9 38 71
11781684 2001
8
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. 9 38 71
9742121 1998
9
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. 9 38 71
8696335 1996
10
Mutations in WNT10B Are Identified in Individuals with Oligodontia. 38 71
27321946 2016
11
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. 38 71
26387593 2015
12
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. 38 71
24449199 2014
13
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 38 71
23401279 2013
14
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 38 71
22581971 2012
15
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. 38 71
19429910 2009
16
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 38 71
19559398 2009
17
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. 38 71
18657636 2008
18
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. 9 71
17256800 2007
19
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. 38 71
16479262 2006
20
Novel MSX1 frameshift causes autosomal-dominant oligodontia. 38 71
16498076 2006
21
A novel mutation in PAX9 causes familial form of molar oligodontia. 38 71
16333316 2006
22
A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 9 71
16583127 2006
23
Novel mutation of the initiation codon of PAX9 causes oligodontia. 38 71
15615874 2005
24
A novel MSX1 mutation in hypodontia. 38 71
15264286 2004
25
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. 38 71
14607846 2004
26
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. 38 71
14571272 2003
27
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. 9 71
12605438 2003
28
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. 9 71
11941488 2002
29
The role of MSX1 in human tooth agenesis. 38 71
12097313 2002
30
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 38 71
10742093 2000
31
Mutation of PAX9 is associated with oligodontia. 38 71
10615120 2000
32
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. 71
24311251 2014
33
WNT10A and isolated hypodontia. 71
21484994 2011
34
A 223-kb de novo deletion of PAX9 in a patient with oligodontia. 9 38
20485064 2010
35
[Analysis of clinical features and mutation associated with oligodontia]. 9 38
20077892 2009
36
Genetic basis of tooth agenesis. 9 38
19219933 2009
37
Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth. 9 38
19346736 2009
38
Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. 9 38
19029074 2008
39
Deletion of PAX9 and oligodontia: a third family and review of the literature. 9 38
18445003 2008
40
Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia. 9 38
18374898 2008
41
[A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia]. 9 38
18788550 2008
42
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. 9 38
18199077 2008
43
Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies. 9 38
18028048 2007
44
A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. 9 38
17697174 2007
45
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? 9 38
17032400 2006
46
Exclusion of coding region mutations in MSX1, PAX9 and AXIN2 in eight patients with severe oligodontia phenotype. 9 38
16918677 2006
47
Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. 9 38
16585527 2006
48
A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia? 9 38
16682758 2006
49
Association between PAX-9 promoter polymorphisms and hypodontia in humans. 9 38
16137495 2005
50
[Functional analysis of novel mutations in PAX9 associated with familial oligodontia]. 9 38
16086281 2005
Sources

Variations for Tooth Agenesis

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ClinVar genetic disease variations for Tooth Agenesis:

6 (show top 50) (show all 115)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PAX9 NM_006194.3(PAX9): c.180C> A (p.Tyr60Ter) single nucleotide variant Pathogenic rs1555316704 14:37132277-37132277 14:36663072-36663072
2 LRP6 NM_002336.3(LRP6): c.4593del (p.Cys1532fs) deletion Pathogenic rs869320635 12:12274309-12274309 12:12121375-12121375
3 LRP6 NM_002336.3(LRP6): c.3398-2A> C single nucleotide variant Pathogenic rs869320636 12:12291470-12291470 12:12138536-12138536
4 AXIN2 NM_004655.4(AXIN2): c.1460_1472dup (p.Pro494fs) duplication Pathogenic 17:63533682-63533694 17:65537564-65537576
5 POLR3GL NM_032305.3(POLR3GL): c.326-1G> A single nucleotide variant Likely pathogenic 1:145457605-145457605 1:145977482-145977482
6 POLR3GL NM_032305.3(POLR3GL): c.-41-1G> A single nucleotide variant Likely pathogenic rs782661984 1:145460264-145460264 1:145974824-145974824
7 PAX9 NM_006194.3(PAX9): c.2T> A (p.Met1Lys) single nucleotide variant Likely pathogenic 14:37131296-37131296 14:36662091-36662091
8 LRP6 NM_002336.3(LRP6): c.2994+1G> A single nucleotide variant Likely pathogenic rs866789963 12:12303769-12303769 12:12150835-12150835
9 LRP6 NM_002336.3(LRP6): c.1609G> A (p.Gly537Arg) single nucleotide variant Likely pathogenic rs869320639 12:12318166-12318166 12:12165232-12165232
10 LRP6 NM_002336.3(LRP6): c.1406C> T (p.Pro469Leu) single nucleotide variant Likely pathogenic rs869320638 12:12332883-12332883 12:12179949-12179949
11 LRP6 NM_002336.3(LRP6): c.517C> G (p.Arg173Gly) single nucleotide variant Likely pathogenic rs869320637 12:12356267-12356267 12:12203333-12203333
12 LRP6 NM_002336.3(LRP6): c.4082-2A> G single nucleotide variant Likely pathogenic rs869320640 12:12279857-12279857 12:12126923-12126923
13 WNT10A NM_025216.3(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 2:219754840-219754840 2:218890118-218890118
14 AXIN2 NM_004655.4(AXIN2): c.1168A> G (p.Ser390Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139871607 17:63534353-63534353 17:65538235-65538235
15 AXIN2 NM_004655.4(AXIN2): c.2272G> A (p.Ala758Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145007501 17:63530163-63530163 17:65534045-65534045
16 WNT10A NM_025216.3(WNT10A): c.637G> A (p.Gly213Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147680216 2:219754966-219754966 2:218890244-218890244
17 WNT10A NM_025216.3(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 2:219755011-219755011 2:218890289-218890289
18 WNT10A NM_025216.3(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 2:219754822-219754822 2:218890100-218890100
19 WNT10A NM_025216.3(WNT10A): c.1087A> C (p.Asn363His) single nucleotide variant Conflicting interpretations of pathogenicity rs34972707 2:219757826-219757826 2:218893104-218893104
20 WNT10A NM_025216.3(WNT10A): c.1134C> T (p.Gly378=) single nucleotide variant Uncertain significance rs886055644 2:219757873-219757873 2:218893151-218893151
21 PAX9 NM_006194.3(PAX9): c.-719C> T single nucleotide variant Uncertain significance rs147254306 14:37126780-37126780 14:36657575-36657575
22 PAX9 NM_006194.3(PAX9): c.-656C> G single nucleotide variant Uncertain significance rs374248332 14:37126843-37126843 14:36657638-36657638
23 PAX9 NM_006194.3(PAX9): c.-488C> T single nucleotide variant Uncertain significance rs756143266 14:37127011-37127011 14:36657806-36657806
24 PAX9 NM_006194.3(PAX9): c.-218G> A single nucleotide variant Uncertain significance rs533579629 14:37131077-37131077 14:36661872-36661872
25 PAX9 NM_006194.3(PAX9): c.150C> T (p.His50=) single nucleotide variant Uncertain significance rs753143072 14:37132247-37132247 14:36663042-36663042
26 PAX9 NM_006194.3(PAX9): c.*344_*345del deletion Uncertain significance rs748540311 14:37146001-37146002 14:36676796-36676797
27 PAX9 NM_006194.3(PAX9): c.*511T> C single nucleotide variant Uncertain significance rs567411185 14:37146168-37146168 14:36676963-36676963
28 PAX9 NM_006194.3(PAX9): c.*518_*521del deletion Uncertain significance rs564902020 14:37146175-37146178 14:36676970-36676973
29 PAX9 NM_006194.3(PAX9): c.*1051T> G single nucleotide variant Uncertain significance rs886050495 14:37146708-37146708 14:36677503-36677503
30 PAX9 NM_006194.3(PAX9): c.289A> C (p.Ile97Leu) single nucleotide variant Uncertain significance rs886050492 14:37132386-37132386 14:36663181-36663181
31 PAX9 NM_006194.3(PAX9): c.-186C> A single nucleotide variant Uncertain significance rs886050489 14:37131109-37131109 14:36661904-36661904
32 PAX9 NM_006194.3(PAX9): c.524C> T (p.Thr175Met) single nucleotide variant Uncertain significance rs370909756 14:37132621-37132621 14:36663416-36663416
33 WNT10A NM_025216.3(WNT10A): c.*115C> T single nucleotide variant Uncertain significance rs886055646 2:219758108-219758108 2:218893386-218893386
34 WNT10A NM_025216.2(WNT10A): c.-149G> T single nucleotide variant Uncertain significance rs886055641 2:219745569-219745569 2:218880847-218880847
35 WNT10A NM_025216.3(WNT10A): c.*441C> T single nucleotide variant Uncertain significance rs886055647 2:219758434-219758434 2:218893712-218893712
36 WNT10A NM_025216.2(WNT10A): c.-370C> A single nucleotide variant Uncertain significance rs886055634 2:219745348-219745348 2:218880626-218880626
37 WNT10A NM_025216.2(WNT10A): c.-358G> A single nucleotide variant Uncertain significance rs886055635 2:219745360-219745360 2:218880638-218880638
38 WNT10A NM_025216.2(WNT10A): c.-270G> C single nucleotide variant Uncertain significance rs774035749 2:219745448-219745448 2:218880726-218880726
39 WNT10A NM_025216.2(WNT10A): c.-202G> C single nucleotide variant Uncertain significance rs886055638 2:219745516-219745516 2:218880794-218880794
40 WNT10A NM_025216.2(WNT10A): c.-194dupC duplication Uncertain significance rs886055639 2:219745524-219745524 2:218880802-218880802
41 WNT10A NM_025216.2(WNT10A): c.-153G> A single nucleotide variant Uncertain significance rs886055640 2:219745565-219745565 2:218880843-218880843
42 WNT10A NM_025216.3(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 2:219754981-219754981 2:218890259-218890259
43 WNT10A NM_025216.3(WNT10A): c.756+13C> A single nucleotide variant Uncertain significance rs745958462 2:219755098-219755098 2:218890376-218890376
44 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 2:219745377-219745377 2:218880655-218880655
45 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 2:219745433-219745433 2:218880711-218880711
46 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 2:219745469-219745469 2:218880747-218880747
47 WNT10A NM_025216.3(WNT10A): c.*15C> T single nucleotide variant Uncertain significance rs886055645 2:219758008-219758008 2:218893286-218893286
48 WNT10A NM_025216.2(WNT10A): c.-433C> G single nucleotide variant Uncertain significance rs886055633 2:219745285-219745285 2:218880563-218880563
49 WNT10A NM_025216.3(WNT10A): c.315G> C (p.Trp105Cys) single nucleotide variant Uncertain significance rs886055642 2:219747084-219747084 2:218882362-218882362
50 WNT10A NM_025216.3(WNT10A): c.498C> T (p.Asp166=) single nucleotide variant Uncertain significance rs143463683 2:219754827-219754827 2:218890105-218890105
Sources

Expression for Tooth Agenesis

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Search GEO for disease gene expression data for Tooth Agenesis.
Sources

Pathways for Tooth Agenesis

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Pathways related to Tooth Agenesis according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Tooth Agenesis according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.12 WNT10B WNT10A TGFB3 TGFA FGFR1 CDH1
2
Endometrial cancer 37
Show member pathways
 12.73 TGFB3 TGFA FGFR1 CDH1 AXIN2
3
Mesodermal Commitment Pathway 1
Show member pathways
 12.39 PAX9 FGFR1 BMP4 AXIN2
4
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.34 WNT10B WNT10A TGFB3 BMP4
5
mTOR signaling pathway (KEGG) 37
Show member pathways
 12.34 WNT10B WNT10A LRP6 FGFR1 AXIN2
6
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 65
Show member pathways
 12.32 WNT10B WNT10A LRP6 BMP4 AXIN2
7
WNT Signaling 64
12.28 WNT10B WNT10A LRP6 CDH1
8
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.24 TGFB3 TGFA FGFR1 CDH1 BMP4
9
Gastric cancer 37
Show member pathways
 12.22 WNT10B WNT10A TGFB3 TGFA LRP6 FGFR1
10
Human T-cell leukemia virus 1 infection 37
12.2 WNT10B WNT10A TGFB3 MSX1
11
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.17 WNT10B WNT10A LRP6 AXIN2
12
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.1 TGFB3 TGFA IRF6 FGFR1 BMP4
13
Wnt / Hedgehog / Notch 4
12.06 TGFB3 PAX9 MSX1 LRP6 BMP4 AXIN2
14
Pathways in cancer 37
12 WNT10B WNT10A TGFB3 TGFA LRP6 FGFR1
15
Signaling pathways regulating pluripotency of stem cells 37
11.95 WNT10B WNT10A FGFR1 BMP4 AXIN2
16
Colorectal Cancer Metastasis 64
11.95 WNT10B WNT10A TGFB3 LRP6 CDH1 AXIN2
17
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.92 TGFB3 TGFA FGFR1 CDH1 BMP4
18
Cell cycle Cell cycle (generic schema) 22
Show member pathways
 11.85 WNT10B WNT10A LRP6 CDH1
19
Hippo signaling pathway 37
11.82 WNT10B WNT10A TGFB3 CDH1 BMP4 AXIN2
20
Neural Crest Differentiation 1
11.77 MSX1 FGFR1 CDH1 BMP4 AXIN2
21
Angiogenesis (CST) 4
11.69 TGFB3 TGFA FGFR1
22
G-protein signaling_RhoA regulation pathway 22
11.6 TGFB3 TGFA FGFR1 BMP4
23
TNFs bind their physiological receptors 66
11.11 EDARADD EDAR EDA
24
G-protein signaling_Rap2B regulation pathway 22
10.88 TGFB3 TGFA FGFR1 CDH1 BMP4
25
Hypothetical Craniofacial Development Pathway 1
10.44 TGFB3 IRF6
Sources

GO Terms for Tooth Agenesis

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Cellular components related to Tooth Agenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.32 WNT10B WNT10A TGFB3 TGFA LRP6 GREM2

Biological processes related to Tooth Agenesis according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 TGFB3 MSX1 IRF6 BMP4 AXIN2
2 Wnt signaling pathway GO:0016055 9.92 WNT10B WNT10A LRP6 AXIN2
3 wound healing GO:0042060 9.84 TGFB3 TGFA DSP
4 positive regulation of canonical Wnt signaling pathway GO:0090263 9.83 WNT10B EDA AXIN2
5 BMP signaling pathway GO:0030509 9.81 MSX1 GREM2 BMP4
6 canonical Wnt signaling pathway GO:0060070 9.8 WNT10B WNT10A LRP6
7 tumor necrosis factor-mediated signaling pathway GO:0033209 9.78 EDARADD EDAR EDA
8 roof of mouth development GO:0060021 9.77 SUMO1 MSX1 LRP6
9 cell fate commitment GO:0045165 9.76 WNT10B WNT10A BMP4
10 cell development GO:0048468 9.74 TGFB3 IRF6 BMP4
11 multicellular organism development GO:0007275 9.7 WNT10B WNT10A PAX9 MSX1 LRP6 GREM2
12 positive regulation of epithelial to mesenchymal transition GO:0010718 9.69 TGFB3 BMP4 AXIN2
13 middle ear morphogenesis GO:0042474 9.67 MSX1 FGFR1
14 embryonic limb morphogenesis GO:0030326 9.67 MSX1 LRP6 FGFR1 BMP4
15 positive regulation of ossification GO:0045778 9.65 WNT10B BMP4
16 positive regulation of SMAD protein signal transduction GO:0060391 9.65 TGFB3 BMP4
17 chondrocyte differentiation GO:0002062 9.65 WNT10B FGFR1 BMP4
18 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.64 MSX1 BMP4
19 organ induction GO:0001759 9.63 FGFR1 BMP4
20 salivary gland morphogenesis GO:0007435 9.63 TGFB3 FGFR1
21 midbrain development GO:0030901 9.63 MSX1 LRP6 FGFR1
22 skin development GO:0043588 9.62 WNT10A IRF6 EDA DSP
23 secondary heart field specification GO:0003139 9.61 BMP4 AXIN2
24 positive regulation of bone mineralization GO:0030501 9.61 WNT10B TGFB3 BMP4
25 pituitary gland development GO:0021983 9.58 MSX1 CDH1 BMP4
26 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.56 WNT10A BMP4
27 face morphogenesis GO:0060325 9.56 TGFB3 PAX9 MSX1 LRP6
28 neural crest cell differentiation GO:0014033 9.55 WNT10A LRP6
29 odontogenesis of dentin-containing tooth GO:0042475 9.55 MSX1 LRP6 EDAR EDA BMP4
30 BMP signaling pathway involved in heart development GO:0061312 9.54 MSX1 BMP4
31 salivary gland cavitation GO:0060662 9.52 EDAR EDA
32 regulation of odontogenesis GO:0042481 9.49 PAX9 MSX1
33 odontogenesis GO:0042476 9.1 WNT10A TGFB3 PAX9 MSX1 BMP4 AXIN2
34 positive regulation of transcription by RNA polymerase II GO:0045944 10.12 WNT10B TGFB3 PAX9 MSX1 LRP6 IRF6
35 positive regulation of transcription, DNA-templated GO:0045893 10.07 TGFB3 LRP6 IRF6 CDH1 BMP4
36 cell differentiation GO:0030154 10.06 IRF6 EDARADD EDAR EDA BMP4
37 positive regulation of cell proliferation GO:0008284 10.06 WNT10B TGFB3 TGFA FGFR1 BMP4

Molecular functions related to Tooth Agenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 frizzled binding GO:0005109 8.8 WNT10B WNT10A LRP6
Sources

Sources for Tooth Agenesis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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