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MCID: TTH002
MIFTS: 61

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 36 6 15 17
Oligodontia 12 58 29 6
Selective Tooth Agenesis 12 58 6
Hypodontia 12 54 39
Tooth Agenesis, Selective 54
Familial Tooth Agenesis 12
Anodontia 43

Characteristics:

Orphanet epidemiological data:

58
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: 32 33
Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0050591
KEGG 36 H00625
ICD9CM 34 520.0
MeSH 43 D000848
SNOMED-CT 67 16958000 26624006
ICD10 32 K00.0
ICD10 via Orphanet 33 K00.0
Orphanet 58 ORPHA99798
SNOMED-CT via HPO 68 32337007 32958008
UMLS 71 C0399352
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Summaries for Tooth Agenesis

About this section
KEGG : 36 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 witkop syndrome and rapp-hodgkin syndrome. 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 Ibuprofen and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotypes are micrognathia and microdontia

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

Wikipedia : 74 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 355)
# Related Disease Score Top Affiliating Genes
1 witkop syndrome 34.5 PAX9 MSX1 EDAR
2 rapp-hodgkin syndrome 33.2 IRF6 EDARADD EDAR
3 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 32.5 EDARADD EDAR
4 ectodermal dysplasia 31.9 WNT10A MSX1 EDARADD EDAR EDA DSP
5 cleft lip 31.8 TGFB3 TGFA SUMO1 PAX9 MSX1 IRF6
6 cleft lip/palate 31.8 TGFA MSX1 IRF6 FGFR1 CDH1 BMP4
7 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.7 WNT10B WNT10A PAX9 MSX1 EDARADD EDAR
8 cleft palate, isolated 31.6 TGFB3 TGFA SUMO1 PAX9 MSX1 IRF6
9 anodontia 31.4 WNT10A PAX9 MSX1 EDARADD EDAR EDA
10 ankyloglossia with or without tooth anomalies 31.2 PAX9 MSX1 IRF6
11 chromosome 2q35 duplication syndrome 31.2 MSX1 IRF6 FGFR1 BMP4
12 van der woude syndrome 1 31.2 TGFB3 TGFA PAX9 MSX1 IRF6 FGFR1
13 hemifacial microsomia 31.2 MSX1 FGFR1 BMP4
14 cleft lip with or without cleft palate 31.1 TGFA SUMO1 MSX1 IRF6 CDH1 BMP4
15 orofacial cleft 31.1 TGFB3 TGFA SUMO1 PAX9 MSX1 IRF6
16 hard palate cancer 31.1 PAX9 MSX1 IRF6 BMP4
17 tooth size 31.0 PAX9 MSX1 BMP4
18 hypohidrotic ectodermal dysplasia autosomal recessive 31.0 WNT10A EDARADD EDAR
19 cleft lip and alveolus 31.0 MSX1 IRF6
20 popliteal pterygium syndrome 30.9 TGFB3 MSX1 IRF6
21 anhidrosis 30.9 EDARADD EDAR EDA
22 hypotrichosis 30.9 WNT10A EDARADD EDAR EDA
23 cardiomyopathy, dilated, with woolly hair and keratoderma 30.2 TGFB3 DSP
24 tooth agenesis, selective, 1 12.8
25 tooth agenesis, selective, 4 12.8
26 tooth agenesis, selective, 3 12.8
27 tooth agenesis, selective, x-linked, 1 12.8
28 tooth agenesis, selective, 7 12.6
29 tooth agenesis, selective, 8 12.6
30 tooth agenesis, selective, 9 12.6
31 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.6
32 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.6
33 malposition of teeth with or without hypodontia/oligodontia 12.5
34 tooth agenesis, selective, 5 12.4
35 hypodontia, x-linked 12.4
36 microdontia hypodontia short stature 12.4
37 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 12.3
38 brachymetapody-anodontia-hypotrichosis-albinoidism 12.3
39 tooth agenesis, selective, 2 12.3
40 facial dysmorphism, selective tooth agenesis, and choroid calcification 12.2
41 cleft palate, deafness, and oligodontia 12.2
42 epidermolysis bullosa simplex with anodontia/hypodontia 12.2
43 polr3-related leukodystrophy 12.2
44 split-hand and split-foot with hypodontia 12.2
45 congenital heart disease ptosis hypodontia craniostosis 12.2
46 cleft lip palate oligodontia syndactyly pili torti 12.2
47 cleft palate stapes fixation oligodontia 12.2
48 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.1
49 oligodontia-colorectal cancer syndrome 12.1
50 adult syndrome 12.1

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



Diseases related to Tooth Agenesis
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Symptoms & Phenotypes for Tooth Agenesis

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Human phenotypes related to Tooth Agenesis:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
3 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
4 oligodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000677
5 abnormality of the face 58 Very frequent (99-80%)
6 abnormality of dental morphology 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Tooth Agenesis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.4 WNT10B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.4 AXIN2 LRP6 WNT10B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.4 LRP6 WNT10B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.4 WNT10B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.4 LRP6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 LRP6 WNT10B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 WNT10B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.4 WNT10B

MGI Mouse Phenotypes related to Tooth Agenesis:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.4 AXIN2 BMP4 DSP EDAR EDARADD FGFR1
2 digestive/alimentary MP:0005381 10.36 AXIN2 BMP4 CDH1 DSP EDAR FGFR1
3 growth/size/body region MP:0005378 10.36 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
4 cellular MP:0005384 10.28 AXIN2 BMP4 CDH1 DSP EDAR FGFR1
5 endocrine/exocrine gland MP:0005379 10.26 AXIN2 BMP4 CDH1 EDAR EDARADD FGFR1
6 cardiovascular system MP:0005385 10.25 AXIN2 BMP4 CDH1 DSP EDAR FGFR1
7 embryo MP:0005380 10.19 AXIN2 BMP4 CDH1 DSP FGFR1 IRF6
8 integument MP:0010771 10.18 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
9 mortality/aging MP:0010768 10.17 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
10 limbs/digits/tail MP:0005371 10.11 AXIN2 BMP4 EDAR EDARADD FGFR1 IRF6
11 hearing/vestibular/ear MP:0005377 9.98 BMP4 EDARADD FGFR1 IRF6 LRP6 MSX1
12 normal MP:0002873 9.91 AXIN2 BMP4 CDH1 FGFR1 LRP6 MSX1
13 reproductive system MP:0005389 9.9 AXIN2 BMP4 CDH1 EDAR EDARADD FGFR1
14 skeleton MP:0005390 9.8 AXIN2 BMP4 EDAR EDARADD FGFR1 GREM2
15 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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 4 15687-27-1 3672
2
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
3 Acetaminophen, hydrocodone drug combination Phase 4
4 Pharmaceutical Solutions Phase 4
5
Cobalt Approved, Experimental 7440-48-4 104729
6
Dopamine Approved 51-61-6, 62-31-7 681
7
Methamphetamine Approved, Illicit 537-46-2 10836
8
Lithium carbonate Approved 554-13-2
9
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
10
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
11 Anesthetics
12 Anti-Bacterial Agents
13 Antibiotics, Antitubercular
14 Neurotransmitter Agents
15 Sympathomimetics
16 Dopamine Agents
17 Dopamine Uptake Inhibitors
18 Central Nervous System Stimulants
19 Autonomic Agents
20 Adrenergic Agents
21 Tranquilizing Agents
22 Psychotropic Drugs
23 Antimanic Agents
24 Central Nervous System Depressants
25 Antidepressive Agents
26 Immunologic Factors
27 Immunoglobulins
28 Immunoglobulin Fc Fragments
29 Antibodies
30 Keratolytic Agents
31 Antifungal Agents
32 Dermatologic Agents
33 Buchu
34 Anti-Infective Agents

Interventional clinical trials:

(show all 36)
# 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 Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders Unknown status NCT00026026
5 Hypodontia and Ovarian Cancer - the Connection Between Dental Agenesis and Epithelial Cancers, Especially Ovarian Cancer. Unknown status NCT01470235
6 Evaluation of Retention of Metal Reinforced Polyamide Denture Base Compared to Conventional Heat Cured Acrylic Resin Denture Base in Complete Mandibular Denture Unknown status NCT03385746
7 Clinical and Radiological Outcomes Study on Astra Tech Osseospeed Tx Profile Implant Unknown status NCT01510470
8 Clinical Study on Zirconia Bridges Unknown status NCT01835834
9 Immediate and Early Loading of Hydrothermally Treated, Hydroxyapatite-Coated Dental Implants:a Controlled Randomized Prospective Clinical Study Unknown status NCT02397044
10 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
11 Is a Primer Needed for Orthodontic Bonding? A Multi-centre RCT Unknown status NCT01782521
12 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
13 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
14 A Pilot Study Investigating Oral Health Related Quality of Life Improvements in Removable Partial Denture Treatments for the Replacement of Missing Teeth Completed NCT01953991
15 Platform Switching vs Regular Platform Implants. One Year Results From a RCT Completed NCT02123420
16 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
17 Frequency of Hypodontia After Chemotherapy in Childhood Cancer Survivors: A Cross Sectional Study Recruiting NCT03445026
18 Orodental Manifestations of Rare Diseases Recruiting NCT02397824
19 Effect of Neurectomy of Nasopalatine Nerve on Sensation of Anterior Palate in Patient Undergoing Rehabilitation of Atrophic Anterior Maxillary Ridge With Dental Implant Recruiting NCT04153851
20 Comparison of Different Drilling Speed to Classify Bone Quality by Tactile Sensation on a Saw Bone Model Recruiting NCT03877419
21 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
22 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
23 Autotransplantation of Teeth With Advanced or Completed Root Development With Intraoperative Extra-corporal Apicoectomy Recruiting NCT04041518
24 Novel Use of 2-unit Cantilever Resin-bonded Bridges for Replacing Missing Molar Teeth - a Randomized Clinical Trial Recruiting NCT02239718
25 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
26 REFRAME RPD Post-Market Clinical Study Active, not recruiting NCT03198520
27 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
28 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
29 Clinical Evaluation of Chairside Computer Assisted Design/Computer Assisted Machining (CAD/CAM) Lithium Disilicate Fixed Partial Dentures (FPD) Active, not recruiting NCT03036566
30 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
31 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
32 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
33 No-preparation Resin Bonded Bridges for the Replacement of Single Missing Teeth Not yet recruiting NCT03029637
34 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
35 Clinical Assessment Of Inlay Retained Bridge Designs (Tub Shaped And Inlay Shaped) In Missing Posterior Teeth Cases. Not yet recruiting NCT03715842
36 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:

40
Bone, Heart, Eye, Thyroid, Salivary Gland, Brain, Liver
Sources

Publications for Tooth Agenesis

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Articles related to Tooth Agenesis:

(show top 50) (show all 1040)
# Title Authors PMID Year
1
EDA gene mutations underlie non-syndromic oligodontia. 54 61 6
19278982 2009
2
A novel missense mutation in the paired domain of human PAX9 causes oligodontia. 54 61 6
17910065 2007
3
[Novel mutations of PAX9 gene in Chinese patients with oligodontia]. 54 61 6
16191360 2005
4
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. 54 61 6
14689302 2004
5
Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. 54 61 6
12786960 2003
6
A novel mutation in human PAX9 causes molar oligodontia. 54 61 6
11827258 2002
7
Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. 54 61 6
11781684 2001
8
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. 54 61 6
9742121 1998
9
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. 54 61 6
8696335 1996
10
Mutations in WNT10B Are Identified in Individuals with Oligodontia. 61 6
27321946 2016
11
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. 61 6
26387593 2015
12
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. 61 6
24449199 2014
13
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 61 6
23401279 2013
14
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 61 6
22581971 2012
15
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. 61 6
19429910 2009
16
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 61 6
19559398 2009
17
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. 61 6
18657636 2008
18
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. 54 6
17256800 2007
19
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. 61 6
16479262 2006
20
Novel MSX1 frameshift causes autosomal-dominant oligodontia. 61 6
16498076 2006
21
A novel mutation in PAX9 causes familial form of molar oligodontia. 61 6
16333316 2006
22
A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 54 6
16583127 2006
23
Novel mutation of the initiation codon of PAX9 causes oligodontia. 61 6
15615874 2005
24
A novel MSX1 mutation in hypodontia. 61 6
15264286 2004
25
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. 61 6
14607846 2004
26
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. 61 6
14571272 2003
27
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. 54 6
12605438 2003
28
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. 54 6
11941488 2002
29
The role of MSX1 in human tooth agenesis. 61 6
12097313 2002
30
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 61 6
10742093 2000
31
Mutation of PAX9 is associated with oligodontia. 61 6
10615120 2000
32
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. 6
24311251 2014
33
WNT10A and isolated hypodontia. 6
21484994 2011
34
A 223-kb de novo deletion of PAX9 in a patient with oligodontia. 54 61
20485064 2010
35
[Analysis of clinical features and mutation associated with oligodontia]. 54 61
20077892 2009
36
Genetic basis of tooth agenesis. 54 61
19219933 2009
37
Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth. 54 61
19346736 2009
38
Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. 54 61
19029074 2008
39
Deletion of PAX9 and oligodontia: a third family and review of the literature. 54 61
18445003 2008
40
Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia. 54 61
18374898 2008
41
[A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia]. 54 61
18788550 2008
42
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. 54 61
18199077 2008
43
Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies. 54 61
18028048 2007
44
A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. 54 61
17697174 2007
45
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? 54 61
17032400 2006
46
Exclusion of coding region mutations in MSX1, PAX9 and AXIN2 in eight patients with severe oligodontia phenotype. 54 61
16918677 2006
47
Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. 54 61
16585527 2006
48
A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia? 54 61
16682758 2006
49
Association between PAX-9 promoter polymorphisms and hypodontia in humans. 54 61
16137495 2005
50
[Functional analysis of novel mutations in PAX9 associated with familial oligodontia]. 54 61
16086281 2005
Sources

Variations for Tooth Agenesis

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ClinVar genetic disease variations for Tooth Agenesis:

6 (show top 50) (show all 117) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP6 NM_002336.3(LRP6):c.3398-2A>CSNV Pathogenic 225148 rs869320636 12:12291470-12291470 12:12138536-12138536
2 LRP6 NM_002336.3(LRP6):c.4593del (p.Cys1532fs)deletion Pathogenic 225147 rs869320635 12:12274309-12274309 12:12121375-12121375
3 PAX9 NM_006194.3(PAX9):c.180C>A (p.Tyr60Ter)SNV Pathogenic 526772 rs1555316704 14:37132277-37132277 14:36663072-36663072
4 AXIN2 NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs)duplication Pathogenic 599333 rs1567755946 17:63533681-63533682 17:65537563-65537564
5 LRP6 NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter)SNV Pathogenic 689556 12:12315188-12315188 12:12162254-12162254
6 EDA NM_001399.5(EDA):c.1094T>C (p.Val365Ala)SNV Pathogenic/Likely pathogenic 44185 rs397516654 X:69255377-69255377 X:70035527-70035527
7 LRP6 NM_002336.3(LRP6):c.2994+1G>ASNV Likely pathogenic 225152 rs866789963 12:12303769-12303769 12:12150835-12150835
8 LRP6 NM_002336.3(LRP6):c.1609G>A (p.Gly537Arg)SNV Likely pathogenic 225151 rs869320639 12:12318166-12318166 12:12165232-12165232
9 LRP6 NM_002336.3(LRP6):c.1406C>T (p.Pro469Leu)SNV Likely pathogenic 225150 rs869320638 12:12332883-12332883 12:12179949-12179949
10 LRP6 NM_002336.3(LRP6):c.517C>G (p.Arg173Gly)SNV Likely pathogenic 225149 rs869320637 12:12356267-12356267 12:12203333-12203333
11 EDA NM_001399.5(EDA):c.866G>A (p.Arg289His)SNV Likely pathogenic 228257 rs876657641 X:69253320-69253320 X:70033470-70033470
12 LRP6 NM_002336.3(LRP6):c.4082-2A>GSNV Likely pathogenic 225153 rs869320640 12:12279857-12279857 12:12126923-12126923
13 POLR3GL NM_032305.3(POLR3GL):c.326-1G>ASNV Likely pathogenic 617636 rs1553763618 1:145457605-145457605 1:145977482-145977482
14 POLR3GL NM_032305.3(POLR3GL):c.-41-1G>ASNV Likely pathogenic 617676 rs782661984 1:145460264-145460264 1:145974824-145974824
15 PAX9 NM_006194.3(PAX9):c.2T>A (p.Met1Lys)SNV Likely pathogenic 649310 14:37131296-37131296 14:36662091-36662091
16 PAX9 NM_006194.3(PAX9):c.511G>A (p.Ala171Thr)SNV Conflicting interpretations of pathogenicity 313167 rs143020311 14:37132608-37132608 14:36663403-36663403
17 WNT10A NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)SNV Conflicting interpretations of pathogenicity 334411 rs531326479 2:219757756-219757756 2:218893034-218893034
18 WNT10A NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)SNV Conflicting interpretations of pathogenicity 334399 rs77583146 2:219754822-219754822 2:218890100-218890100
19 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)SNV Conflicting interpretations of pathogenicity 4462 rs121908120 2:219755011-219755011 2:218890289-218890289
20 WNT10A NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)SNV Conflicting interpretations of pathogenicity 225515 rs116998555 2:219754840-219754840 2:218890118-218890118
21 AXIN2 NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)SNV Conflicting interpretations of pathogenicity 127934 rs139871607 17:63534353-63534353 17:65538235-65538235
22 AXIN2 NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)SNV Conflicting interpretations of pathogenicity 127943 rs145007501 17:63530163-63530163 17:65534045-65534045
23 WNT10A NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)SNV Conflicting interpretations of pathogenicity 139576 rs147680216 2:219754966-219754966 2:218890244-218890244
24 WNT10A NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)SNV Conflicting interpretations of pathogenicity 334414 rs34972707 2:219757826-219757826 2:218893104-218893104
25 WNT10A NM_025216.3(WNT10A):c.1134C>T (p.Gly378=)SNV Uncertain significance 334415 rs886055644 2:219757873-219757873 2:218893151-218893151
26 PAX9 NM_006194.3(PAX9):c.-719C>TSNV Uncertain significance 313150 rs147254306 14:37126780-37126780 14:36657575-36657575
27 PAX9 NM_006194.3(PAX9):c.-656C>GSNV Uncertain significance 313151 rs374248332 14:37126843-37126843 14:36657638-36657638
28 PAX9 NM_006194.3(PAX9):c.-488C>TSNV Uncertain significance 313154 rs756143266 14:37127011-37127011 14:36657806-36657806
29 PAX9 NM_006194.3(PAX9):c.-218G>ASNV Uncertain significance 313160 rs533579629 14:37131077-37131077 14:36661872-36661872
30 PAX9 NM_006194.3(PAX9):c.150C>T (p.His50=)SNV Uncertain significance 313165 rs753143072 14:37132247-37132247 14:36663042-36663042
31 PAX9 NM_006194.3(PAX9):c.*344_*345deldeletion Uncertain significance 313178 rs748540311 14:37146001-37146002 14:36676796-36676797
32 PAX9 NM_006194.3(PAX9):c.*511T>CSNV Uncertain significance 313180 rs567411185 14:37146168-37146168 14:36676963-36676963
33 PAX9 NM_006194.3(PAX9):c.*518_*521deldeletion Uncertain significance 313181 rs564902020 14:37146172-37146175 14:36676967-36676970
34 PAX9 NM_006194.3(PAX9):c.*1051T>GSNV Uncertain significance 313186 rs886050495 14:37146708-37146708 14:36677503-36677503
35 PAX9 NM_006194.3(PAX9):c.-186C>ASNV Uncertain significance 313161 rs886050489 14:37131109-37131109 14:36661904-36661904
36 PAX9 NM_006194.3(PAX9):c.289A>C (p.Ile97Leu)SNV Uncertain significance 313166 rs886050492 14:37132386-37132386 14:36663181-36663181
37 PAX9 NM_006194.3(PAX9):c.524C>T (p.Thr175Met)SNV Uncertain significance 313169 rs370909756 14:37132621-37132621 14:36663416-36663416
38 WNT10A NM_025216.3(WNT10A):c.*115C>TSNV Uncertain significance 334418 rs886055646 2:219758108-219758108 2:218893386-218893386
39 WNT10A NM_025216.2(WNT10A):c.-149G>TSNV Uncertain significance 334391 rs886055641 2:219745569-219745569 2:218880847-218880847
40 WNT10A NM_025216.3(WNT10A):c.*441C>TSNV Uncertain significance 334423 rs886055647 2:219758434-219758434 2:218893712-218893712
41 WNT10A NM_025216.2(WNT10A):c.-370C>ASNV Uncertain significance 334380 rs886055634 2:219745348-219745348 2:218880626-218880626
42 WNT10A NM_025216.2(WNT10A):c.-358G>ASNV Uncertain significance 334381 rs886055635 2:219745360-219745360 2:218880638-218880638
43 WNT10A NM_025216.2(WNT10A):c.-270G>CSNV Uncertain significance 334385 rs774035749 2:219745448-219745448 2:218880726-218880726
44 WNT10A NM_025216.2(WNT10A):c.-202G>CSNV Uncertain significance 334388 rs886055638 2:219745516-219745516 2:218880794-218880794
45 WNT10A NM_025216.2(WNT10A):c.-194dupCduplication Uncertain significance 334389 rs886055639 2:219745516-219745517 2:218880794-218880795
46 WNT10A NM_025216.2(WNT10A):c.-153G>ASNV Uncertain significance 334390 rs886055640 2:219745565-219745565 2:218880843-218880843
47 WNT10A NM_025216.2(WNT10A):c.-341A>GSNV Uncertain significance 334382 rs762914440 2:219745377-219745377 2:218880655-218880655
48 WNT10A NM_025216.2(WNT10A):c.-285C>TSNV Uncertain significance 334384 rs886055636 2:219745433-219745433 2:218880711-218880711
49 WNT10A NM_025216.2(WNT10A):c.-249G>CSNV Uncertain significance 334386 rs571829301 2:219745469-219745469 2:218880747-218880747
50 PAX9 NM_006194.3(PAX9):c.271A>G (p.Lys91Glu)SNV Uncertain significance 13770 rs28933373 14:37132368-37132368 14:36663163-36663163
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:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.12 WNT10B WNT10A TGFB3 TGFA FGFR1 CDH1
2
Endometrial cancer 36
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
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 64
Show member pathways
 12.37 WNT10B WNT10A LRP6 BMP4 AXIN2
5
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.34 WNT10B WNT10A TGFB3 BMP4
6
mTOR signaling pathway (KEGG) 64
Show member pathways
 12.32 WNT10B WNT10A LRP6 FGFR1 AXIN2
7
WNT Signaling 63
12.3 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 36
Show member pathways
 12.22 WNT10B WNT10A TGFB3 TGFA LRP6 FGFR1
10
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.1 TGFB3 TGFA IRF6 FGFR1 BMP4
11
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.06 WNT10B WNT10A LRP6 AXIN2
12
Wnt / Hedgehog / Notch 4
12.06 TGFB3 PAX9 MSX1 LRP6 BMP4 AXIN2
13
Pathways in cancer 36
12 WNT10B WNT10A TGFB3 TGFA LRP6 FGFR1
14
Signaling pathways regulating pluripotency of stem cells 36
11.95 WNT10B WNT10A FGFR1 BMP4 AXIN2
15
Colorectal Cancer Metastasis 63
11.95 WNT10B WNT10A TGFB3 LRP6 CDH1 AXIN2
16
Hippo signaling pathway 36
11.82 WNT10B WNT10A TGFB3 CDH1 BMP4 AXIN2
17
NF-kappa B signaling pathway 36
11.79 EDARADD EDAR EDA
18
Neural Crest Differentiation 1
11.77 MSX1 FGFR1 CDH1 BMP4 AXIN2
19
TGF-beta signaling pathway (KEGG) 36
11.72 TGFB3 GREM2 BMP4
20
Angiogenesis (CST) 4
11.68 TGFB3 TGFA FGFR1
21
G-protein signaling_RhoA regulation pathway 22
11.61 TGFB3 TGFA FGFR1 BMP4
22
TNFs bind their physiological receptors 65
11.09 EDARADD EDAR EDA
23
G-protein signaling_Rap2B regulation pathway 22
10.88 TGFB3 TGFA FGFR1 CDH1 BMP4
24
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 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 WNT10B TGFB3 PAX9 MSX1 LRP6 IRF6
2 positive regulation of transcription, DNA-templated GO:0045893 10.06 TGFB3 LRP6 IRF6 CDH1 BMP4
3 positive regulation of cell proliferation GO:0008284 10.04 WNT10B TGFB3 TGFA FGFR1 BMP4
4 negative regulation of cell proliferation GO:0008285 10 TGFB3 MSX1 IRF6 BMP4 AXIN2
5 Wnt signaling pathway GO:0016055 9.92 WNT10B WNT10A LRP6 AXIN2
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.83 EDARADD EDAR EDA
7 wound healing GO:0042060 9.83 TGFB3 TGFA DSP
8 canonical Wnt signaling pathway GO:0060070 9.79 WNT10B WNT10A LRP6
9 cell fate commitment GO:0045165 9.77 WNT10B WNT10A BMP4
10 cell development GO:0048468 9.75 TGFB3 IRF6 BMP4
11 BMP signaling pathway GO:0030509 9.73 TGFB3 MSX1 GREM2 BMP4
12 positive regulation of epithelial to mesenchymal transition GO:0010718 9.71 TGFB3 BMP4 AXIN2
13 roof of mouth development GO:0060021 9.71 SUMO1 MSX1 LRP6 IRF6
14 multicellular organism development GO:0007275 9.7 WNT10B WNT10A PAX9 MSX1 LRP6 GREM2
15 chondrocyte differentiation GO:0002062 9.69 WNT10B FGFR1 BMP4
16 positive regulation of bone mineralization GO:0030501 9.67 WNT10B TGFB3 BMP4
17 embryonic limb morphogenesis GO:0030326 9.67 MSX1 LRP6 FGFR1 BMP4
18 positive regulation of ossification GO:0045778 9.65 WNT10B BMP4
19 midbrain development GO:0030901 9.65 MSX1 LRP6 FGFR1
20 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.64 MSX1 BMP4
21 positive regulation of SMAD protein signal transduction GO:0060391 9.64 TGFB3 BMP4
22 organ induction GO:0001759 9.63 FGFR1 BMP4
23 salivary gland morphogenesis GO:0007435 9.63 TGFB3 FGFR1
24 pituitary gland development GO:0021983 9.63 MSX1 CDH1 BMP4
25 secondary heart field specification GO:0003139 9.62 BMP4 AXIN2
26 skin development GO:0043588 9.62 WNT10A IRF6 EDA DSP
27 neural crest cell differentiation GO:0014033 9.58 WNT10A LRP6
28 BMP signaling pathway involved in heart development GO:0061312 9.57 MSX1 BMP4
29 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.56 WNT10A BMP4
30 face morphogenesis GO:0060325 9.56 TGFB3 PAX9 MSX1 LRP6
31 salivary gland cavitation GO:0060662 9.55 EDAR EDA
32 odontogenesis of dentin-containing tooth GO:0042475 9.55 MSX1 LRP6 EDAR EDA BMP4
33 regulation of odontogenesis GO:0042481 9.52 PAX9 MSX1
34 odontogenesis GO:0042476 9.1 WNT10A TGFB3 PAX9 MSX1 BMP4 AXIN2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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