MCID: TTH002
MIFTS: 61

Tooth Agenesis

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Tooth Agenesis

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 6
Familial Tooth Agenesis 12
Anodontia 44

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:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0050591
KEGG 36 H00625
ICD9CM 34 520.0
MeSH 44 D000848
SNOMED-CT 67 234951001
ICD10 32 K00.0
ICD10 via Orphanet 33 K00.0
Orphanet 58 ORPHA99798
SNOMED-CT via HPO 68 32337007 32958008
UMLS 70 C0399352

Summaries for Tooth Agenesis

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 tooth agenesis, selective, 1 and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant. An important gene associated with Tooth Agenesis is PAX9 (Paired Box 9), and among its related pathways/superpathways are Wnt signaling pathway and Gastric cancer. The drugs Amoxicillin and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and thyroid, and related phenotypes are microdontia and micrognathia

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

Wikipedia : 73 Hypodontia is defined as the developmental absence of one or more teeth excluding the third molars. It... more...

Related Diseases for Tooth Agenesis

Diseases related to Tooth Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 351)
# Related Disease Score Top Affiliating Genes
1 tooth agenesis, selective, 1 33.6 PAX9 MSX1 EDA
2 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 32.0 PAX9 EDARADD EDAR EDA
3 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 32.0 PAX9 EDARADD EDAR EDA
4 ectodermal dysplasia 31.6 WNT10A MSX1 GREM2 EDARADD EDAR EDA
5 cleft lip 31.5 TGFA SUMO1 PAX9 MSX1 IRF6 FGFR1
6 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.5 WNT10A PAX9 MSX1 EDARADD EDAR EDA
7 cleft lip/palate 31.5 TGFA MSX1 IRF6 FGFR1 CDH1 BMP4
8 cleft palate, isolated 31.3 TGFA SUMO1 PAX9 MSX1 LRP6 IRF6
9 ectodermal dysplasia 1, hypohidrotic, x-linked 31.2 WNT10A EDARADD EDAR EDA
10 anodontia 31.0 WNT10A PAX9 MSX1 GREM2 EDARADD EDAR
11 taurodontism 31.0 WNT10A EDA
12 tooth size 30.9 PAX9 MSX1 BMP4
13 cleft lip with or without cleft palate 30.8 TGFA MSX1 IRF6 CDH1 BMP4
14 van der woude syndrome 1 30.8 PAX9 MSX1 IRF6 BMP4
15 chromosome 2q35 duplication syndrome 30.8 WNT10B MSX1 IRF6 FGFR1 BMP4
16 orofacial cleft 30.8 WNT10A TGFA SUMO1 PAX9 MSX1 LRP6
17 schopf-schulz-passarge syndrome 30.8 WNT10A EDARADD EDAR
18 ankyloglossia with or without tooth anomalies 30.7 PAX9 MSX1 IRF6
19 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 30.6 PAX9 EDARADD EDAR EDA
20 witkop syndrome 30.6 PAX9 MSX1 EDAR
21 anhidrosis 30.5 EDARADD EDAR EDA
22 hypotrichosis 30.5 WNT10A EDARADD EDAR EDA
23 crouzon syndrome 30.5 MSX1 FGFR1 BMP4
24 hyaline fibromatosis syndrome 30.4 WNT10B EDAR BMP4
25 cleft lip and alveolus 30.4 MSX1 IRF6
26 hypohidrotic ectodermal dysplasia autosomal recessive 30.4 WNT10A EDARADD EDAR
27 tooth agenesis, selective, 4 11.7
28 tooth agenesis, selective, 3 11.7
29 tooth agenesis, selective, x-linked, 1 11.7
30 tooth agenesis, selective, 7 11.6
31 tooth agenesis, selective, 8 11.6
32 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 11.6
33 tooth agenesis, selective, 9 11.6
34 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.5
35 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.4
36 oligodontia-colorectal cancer syndrome 11.4
37 dental anomalies and short stature 11.4
38 polr3-related leukodystrophy 11.4
39 adult syndrome 11.3
40 tooth agenesis, selective, 5 11.3
41 tooth agenesis, selective, 2 11.3
42 brachymetapody-anodontia-hypotrichosis-albinoidism 11.2
43 short stature, oligodontia, dysmorphic facies, and motor delay 11.2
44 hypodontia, x-linked 11.2
45 epidermolysis bullosa simplex with anodontia/hypodontia 11.2
46 microdontia hypodontia short stature 11.2
47 dermatoosteolysis, kirghizian type 11.2
48 malposition of teeth with or without hypodontia/oligodontia 11.1
49 deafness-oligodontia syndrome 11.1
50 zadik barak levin syndrome 11.1

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



Diseases related to Tooth Agenesis

Symptoms & Phenotypes for Tooth Agenesis

Human phenotypes related to Tooth Agenesis:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
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 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.77 IRF6
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.77 TGFA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.77 FGFR1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.77 FGFR1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.77 TGFA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.77 TGFA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.77 IRF6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.77 TGFA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.77 FGFR1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.77 IRF6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.77 FGFR1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.77 TGFA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.77 TGFA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.64 LRP6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.64 WNT10B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.64 AXIN2 LRP6 WNT10B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.64 LRP6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.64 LRP6 WNT10B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.64 WNT10B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.64 LRP6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.64 LRP6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.64 LRP6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.64 LRP6 WNT10B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 AXIN2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.64 WNT10B
26 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.64 AXIN2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.64 LRP6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.64 AXIN2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 LRP6
30 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.64 AXIN2

MGI Mouse Phenotypes related to Tooth Agenesis:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.37 AXIN2 BMP4 DSP EDAR EDARADD FGFR1
2 growth/size/body region MP:0005378 10.36 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
3 digestive/alimentary MP:0005381 10.32 BMP4 CDH1 DSP EDAR FGFR1 IRF6
4 cardiovascular system MP:0005385 10.24 AXIN2 BMP4 CDH1 DSP EDAR FGFR1
5 endocrine/exocrine gland MP:0005379 10.22 AXIN2 BMP4 CDH1 EDAR EDARADD FGFR1
6 embryo MP:0005380 10.19 AXIN2 BMP4 CDH1 DSP FGFR1 IRF6
7 integument MP:0010771 10.18 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
8 mortality/aging MP:0010768 10.17 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
9 limbs/digits/tail MP:0005371 10.07 AXIN2 BMP4 EDAR EDARADD FGFR1 IRF6
10 hearing/vestibular/ear MP:0005377 10.03 AXIN2 BMP4 EDARADD FGFR1 IRF6 LRP6
11 normal MP:0002873 9.86 AXIN2 BMP4 CDH1 FGFR1 LRP6 MSX1
12 reproductive system MP:0005389 9.81 AXIN2 BMP4 CDH1 EDARADD FGFR1 LRP6
13 skeleton MP:0005390 9.77 AXIN2 BMP4 EDAR EDARADD FGFR1 GREM2
14 vision/eye MP:0005391 9.32 AXIN2 BMP4 DSP EDAR EDARADD FGFR1

Drugs & Therapeutics for Tooth Agenesis

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

(show all 14)
# 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
Denosumab Approved 615258-40-7
7
Lithium carbonate Approved 554-13-2
8
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
9 Diphosphonates
10 Antibiotics, Antitubercular
11 Anesthetics
12 Anti-Bacterial Agents
13 Antidepressive Agents
14 Psychotropic Drugs

Interventional clinical trials:

(show all 37)
# 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 Frequency of Hypodontia After Chemotherapy in Childhood Cancer Survivors: A Cross Sectional Study Unknown status NCT03445026
4 Hypodontia and Ovarian Cancer - the Connection Between Dental Agenesis and Epithelial Cancers, Especially Ovarian Cancer. Unknown status NCT01470235
5 Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders Unknown status NCT00026026
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 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) Unknown status NCT03614442
8 Clinical Study on Zirconia Bridges Unknown status NCT01835834
9 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
10 Clinical Assessment Of Inlay Retained Bridge Designs (Tub Shaped And Inlay Shaped) In Missing Posterior Teeth Cases. Unknown status NCT03715842
11 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
12 Clinical and Radiological Outcomes Study on Astra Tech Osseospeed Tx Profile Implant Unknown status NCT01510470
13 Immediate and Early Loading of Hydrothermally Treated, Hydroxyapatite-Coated Dental Implants:a Controlled Randomized Prospective Clinical Study Unknown status NCT02397044
14 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 Completed NCT02536716
15 Novel Use of 2-unit Cantilever Resin-bonded Bridges for Replacing Missing Molar Teeth - a Randomized Clinical Trial Completed NCT02239718
16 A Histomorphometric Analysis of New Bone Formation Following Sinus Augmentation Using Two Different Bone Graft Materials. A Pilot Study in Humans. Completed NCT03059914
17 Comparison of Different Drilling Speed to Classify Bone Quality by Tactile Sensation on a Saw Bone Model Completed NCT03877419
18 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 Completed NCT03817437
19 A Proof of Concept for All-ceramic Zirconia Resin Bonded Bridges for Canine, Premolar and Short Span Posterior Teeth Official Title: Completed NCT02793037
20 REFRAME RPD Post-Market Clinical Study Completed NCT03198520
21 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
22 A Pilot Study Investigating Oral Health Related Quality of Life Improvements in Removable Partial Denture Treatments for the Replacement of Missing Teeth Completed NCT01953991
23 Platform Switching vs Regular Platform Implants. One Year Results From a RCT Completed NCT02123420
24 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
25 Dental Rehabilitation of Cancer Patients With Bone Metastases on High Dose Antiresorptives Recruiting NCT04741906
26 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
27 Evaluation Of Innovative 3D Printed Space Maintainer Versus Conventional One Recruiting NCT04221243
28 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
29 Retention and Durability of the Anterior Zirconia Wing Bridge Recruiting NCT04378140
30 Autotransplantation of Teeth With Advanced or Completed Root Development With Intraoperative Extra-corporal Apicoectomy Recruiting NCT04041518
31 Clinical Evaluation of Chairside Computer Assisted Design/Computer Assisted Machining (CAD/CAM) Lithium Disilicate Fixed Partial Dentures (FPD) Active, not recruiting NCT03036566
32 Randomized Controlled Clinical Trial of Two-unit Cantilever Implant Prostheses Made of Monolithic Zirconia on Titanium Base Abutments or Porcelain-fused to Metal on Gold Abutments Not yet recruiting NCT04713800
33 Alveolar Ridge Expansion by Osseodensification and Its Impact on Implant Survival and Success: A Case Series Not yet recruiting NCT04741594
34 No-preparation Resin Bonded Bridges for the Replacement of Single Missing Teeth Not yet recruiting NCT03029637
35 X-space Implants in Post-extraction Sites. A CBCT Randomized Clinical Trial Not yet recruiting NCT04492111
36 The Use of Bio-Oss Collagen for Sinus Augmentation Using the Transcrestal Approach. Not yet recruiting NCT04581304
37 Observational, Case-Series Study Evaluation of Bone Width and Dental Implant Stability When Using the Densah Bur™ Bone Compaction Process to Prepare Dental Implant Sites Withdrawn NCT02502058

Search NIH Clinical Center for Tooth Agenesis

Cochrane evidence based reviews: anodontia

Genetic Tests for Tooth Agenesis

Genetic tests related to Tooth Agenesis:

# Genetic test Affiliating Genes
1 Oligodontia 29

Anatomical Context for Tooth Agenesis

MalaCards organs/tissues related to Tooth Agenesis:

40
Bone, Eye, Thyroid, Skin

Publications for Tooth Agenesis

Articles related to Tooth Agenesis:

(show top 50) (show all 1126)
# 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. 6 54 61
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. 61 6 54
14689302 2004
5
Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. 6 54 61
12786960 2003
6
A novel mutation in human PAX9 causes molar oligodontia. 6 54 61
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 6 61
8696335 1996
10
Rare and Common Variants Conferring Risk of Tooth Agenesis. 6 61
29364747 2018
11
A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia. 61 6
28847717 2017
12
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study. 61 6
28105635 2017
13
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. 6 61
28981473 2017
14
Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. 61 6
29023497 2017
15
Mutations in WNT10B Are Identified in Individuals with Oligodontia. 6 61
27321946 2016
16
A novel initiation codon mutation of PAX9 in a family with oligodontia. 6 61
26571067 2016
17
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. 61 6
26387593 2015
18
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. 6 61
25629078 2015
19
A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia. 6 61
24914010 2014
20
Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review. 6 61
24702986 2014
21
Variability in dentofacial phenotypes in four families with WNT10A mutations. 61 6
24398796 2014
22
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 6 61
24458874 2014
23
Oligodontia and curly hair occur with ectodysplasin-a mutations. 61 6
24487376 2014
24
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. 6 61
24449199 2014
25
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. 61 6
23167694 2013
26
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 6 61
23401279 2013
27
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations. 61 6
23991204 2013
28
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 61 6
22581971 2012
29
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. 6 61
19623212 2010
30
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. 6 61
19429910 2009
31
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 6 61
19559398 2009
32
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. 6 61
18657636 2008
33
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. 54 6
17256800 2007
34
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. 61 6
16479262 2006
35
Novel MSX1 frameshift causes autosomal-dominant oligodontia. 61 6
16498076 2006
36
A novel mutation in PAX9 causes familial form of molar oligodontia. 61 6
16333316 2006
37
A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 6 54
16583127 2006
38
Novel mutation of the initiation codon of PAX9 causes oligodontia. 6 61
15615874 2005
39
A novel MSX1 mutation in hypodontia. 6 61
15264286 2004
40
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. 6 61
14607846 2004
41
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. 61 6
14571272 2003
42
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. 54 6
12605438 2003
43
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. 54 6
11941488 2002
44
The role of MSX1 in human tooth agenesis. 61 6
12097313 2002
45
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 6 61
10742093 2000
46
Mutation of PAX9 is associated with oligodontia. 61 6
10615120 2000
47
Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia. 6
30569517 2019
48
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families. 6
30974434 2019
49
WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI). 6
28976000 2018
50
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. 6
28166811 2017

Variations for Tooth Agenesis

ClinVar genetic disease variations for Tooth Agenesis:

6 (show top 50) (show all 306)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP6 NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter) SNV Pathogenic 689556 rs1591901585 GRCh37: 12:12315188-12315188
GRCh38: 12:12162254-12162254
2 EDAR NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) SNV Pathogenic 986783 rs1475705727 GRCh37: 2:109545672-109545672
GRCh38: 2:108929216-108929216
3 EDA NM_001399.5(EDA):c.193C>G (p.Arg65Gly) SNV Pathogenic 11044 rs132630319 GRCh37: X:68836345-68836345
GRCh38: X:69616501-69616501
4 EDA NM_001399.5(EDA):c.1072C>G (p.Gln358Glu) SNV Pathogenic 11045 rs132630320 GRCh37: X:69255355-69255355
GRCh38: X:70035505-70035505
5 EDA NM_001399.5(EDA):c.1013C>T (p.Thr338Met) SNV Pathogenic 11048 rs132630321 GRCh37: X:69255296-69255296
GRCh38: X:70035446-70035446
6 PAX9 PAX9, 1-BP INS, 219G Insertion Pathogenic 13767 GRCh37:
GRCh38:
7 PAX9 NM_006194.3(PAX9):c.340A>T (p.Lys114Ter) SNV Pathogenic 13768 rs104894467 GRCh37: 14:37132437-37132437
GRCh38: 14:36663232-36663232
8 PAX9 PAX9, DEL Deletion Pathogenic 13769 GRCh37:
GRCh38:
9 PAX9 NM_006194.3(PAX9):c.271A>G (p.Lys91Glu) SNV Pathogenic 13770 rs28933373 GRCh37: 14:37132368-37132368
GRCh38: 14:36663163-36663163
10 PAX9 NM_006194.3(PAX9):c.62T>C (p.Leu21Pro) SNV Pathogenic 13771 rs28933970 GRCh37: 14:37132159-37132159
GRCh38: 14:36662954-36662954
11 PAX9 PAX9, 288-BP INS Insertion Pathogenic 13772 GRCh37:
GRCh38:
12 PAX9 NM_006194.3(PAX9):c.83G>C (p.Arg28Pro) SNV Pathogenic 13773 rs28933971 GRCh37: 14:37132180-37132180
GRCh38: 14:36662975-36662975
13 PAX9 NM_006194.3(PAX9):c.76C>T (p.Arg26Trp) SNV Pathogenic 13774 rs28933972 GRCh37: 14:37132173-37132173
GRCh38: 14:36662968-36662968
14 PAX9 NM_006194.3(PAX9):c.259A>T (p.Ile87Phe) SNV Pathogenic 13775 rs104894468 GRCh37: 14:37132356-37132356
GRCh38: 14:36663151-36663151
15 PAX9 NM_006194.3(PAX9):c.792_793insC (p.Val265fs) Insertion Pathogenic 13776 rs1594475481 GRCh37: 14:37145423-37145424
GRCh38: 14:36676218-36676219
16 PAX9 PAX9, 1A-G SNV Pathogenic 13777 GRCh37:
GRCh38:
17 PAX9 PAX9, 3-BP DEL, 24-BP INS, NT619 Indel Pathogenic 13778 GRCh37:
GRCh38:
18 PAX9 NM_006194.3(PAX9):c.151G>A (p.Gly51Ser) SNV Pathogenic 13779 rs104894469 GRCh37: 14:37132248-37132248
GRCh38: 14:36663043-36663043
19 PAX9 PAX9, 1-BP INS, 190G Insertion Pathogenic 13780 GRCh37:
GRCh38:
20 PAX9 NM_006194.3(PAX9):c.139C>T (p.Arg47Trp) SNV Pathogenic 13781 rs121917720 GRCh37: 14:37132236-37132236
GRCh38: 14:36663031-36663031
21 MSX1 NM_002448.3(MSX1):c.605G>C (p.Arg202Pro) SNV Pathogenic 14879 rs121913129 GRCh37: 4:4864563-4864563
GRCh38: 4:4862836-4862836
22 MSX1 NM_002448.3(MSX1):c.332C>A (p.Ser111Ter) SNV Pathogenic 14880 rs104893852 GRCh37: 4:4861958-4861958
GRCh38: 4:4860231-4860231
23 MSX1 NM_002448.3(MSX1):c.577C>T (p.Gln193Ter) SNV Pathogenic 14881 rs104893850 GRCh37: 4:4864535-4864535
GRCh38: 4:4862808-4862808
24 MSX1 NM_002448.3(MSX1):c.200T>A (p.Met67Lys) SNV Pathogenic 14886 rs121913130 GRCh37: 4:4861826-4861826
GRCh38: 4:4860099-4860099
25 MSX1 NM_002448.3(MSX1):c.81dup (p.Gly28fs) Duplication Pathogenic 14887 rs1553877821 GRCh37: 4:4861706-4861707
GRCh38: 4:4859979-4859980
26 LRP6 NM_002336.3(LRP6):c.3398-2A>C SNV Pathogenic 225148 rs869320636 GRCh37: 12:12291470-12291470
GRCh38: 12:12138536-12138536
27 PAX9 NM_006194.3(PAX9):c.336C>G (p.Cys112Trp) SNV Pathogenic 155939 rs587776350 GRCh37: 14:37132433-37132433
GRCh38: 14:36663228-36663228
28 MSX1 NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?) Duplication Pathogenic 127273 rs515726227 GRCh37: 4:4864866-4864867
GRCh38: 4:4863139-4863140
29 LRP6 NM_002336.3(LRP6):c.2224_2225dup (p.Leu742fs) Duplication Pathogenic 218880 rs864309649 GRCh37: 12:12315180-12315181
GRCh38: 12:12162246-12162247
30 LRP6 NM_002336.3(LRP6):c.1779dup (p.Glu594Ter) Duplication Pathogenic 218878 rs864309647 GRCh37: 12:12317479-12317480
GRCh38: 12:12164545-12164546
31 LRP6 NM_002336.3(LRP6):c.56C>T (p.Ala19Val) SNV Pathogenic 218879 rs864309648 GRCh37: 12:12397589-12397589
GRCh38: 12:12244655-12244655
32 LRP6 NM_002336.3(LRP6):c.4593del (p.Cys1532fs) Deletion Pathogenic 225147 rs869320635 GRCh37: 12:12274309-12274309
GRCh38: 12:12121375-12121375
33 WNT10A NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) SNV Pathogenic 4463 rs121908121 GRCh37: 2:219754712-219754712
GRCh38: 2:218889990-218889990
34 WNT10A G95K Variation Pathogenic 36972 GRCh37:
GRCh38:
35 EDA NM_001399.5(EDA):c.776C>A (p.Ala259Glu) SNV Pathogenic 253053 rs879255611 GRCh37: X:69250353-69250353
GRCh38: X:70030503-70030503
36 WNT10B NM_003394.4(WNT10B):c.786G>A (p.Trp262Ter) SNV Pathogenic 253058 rs766021478 GRCh37: 12:49360262-49360262
GRCh38: 12:48966479-48966479
37 WNT10B NM_003394.4(WNT10B):c.632G>A (p.Arg211Gln) SNV Pathogenic 253057 rs779326570 GRCh37: 12:49361808-49361808
GRCh38: 12:48968025-48968025
38 PAX9 NM_006194.3(PAX9):c.3G>A (p.Met1Ile) SNV Pathogenic 430692 rs1131692057 GRCh37: 14:37131297-37131297
GRCh38: 14:36662092-36662092
39 PAX9 NM_006194.3(PAX9):c.180C>A (p.Tyr60Ter) SNV Pathogenic 526772 rs1555316704 GRCh37: 14:37132277-37132277
GRCh38: 14:36663072-36663072
40 WNT10A NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) SNV Pathogenic 532827 rs764658964 GRCh37: 2:219747079-219747079
GRCh38: 2:218882357-218882357
41 PAX9 NM_006194.3(PAX9):c.59C>T (p.Pro20Leu) SNV Pathogenic 375454 rs1555316697 GRCh37: 14:37132156-37132156
GRCh38: 14:36662951-36662951
42 WNT10A NC_000002.12:g.(?_218880976)_(218893291_?)del Deletion Pathogenic 464177 GRCh37: 2:219745698-219758013
GRCh38: 2:218880976-218893291
43 AXIN2 NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs) Duplication Pathogenic 599333 rs1567755946 GRCh37: 17:63533681-63533682
GRCh38: 17:65537563-65537564
44 WNT10A NM_025216.3(WNT10A):c.694del (p.Arg232fs) Deletion Pathogenic 639357 rs1575233692 GRCh37: 2:219755021-219755021
GRCh38: 2:218890299-218890299
45 WNT10A NM_025216.3(WNT10A):c.949dup (p.Ala317fs) Duplication Pathogenic 661181 rs775990266 GRCh37: 2:219757683-219757684
GRCh38: 2:218892961-218892962
46 WNT10A NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) SNV Pathogenic 4463 rs121908121 GRCh37: 2:219754712-219754712
GRCh38: 2:218889990-218889990
47 WNT10A NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) SNV Pathogenic 841749 GRCh37: 2:219757553-219757553
GRCh38: 2:218892831-218892831
48 WNT10A NM_025216.3(WNT10A):c.717del (p.His239fs) Deletion Pathogenic 841780 GRCh37: 2:219755046-219755046
GRCh38: 2:218890324-218890324
49 WNT10A NM_025216.3(WNT10A):c.909_916del (p.His303fs) Deletion Pathogenic 844473 GRCh37: 2:219757643-219757650
GRCh38: 2:218892921-218892928
50 WNT10A NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter) SNV Pathogenic 935681 GRCh37: 2:219754993-219754993
GRCh38: 2:218890271-218890271

Expression for Tooth Agenesis

Search GEO for disease gene expression data for Tooth Agenesis.

Pathways for Tooth Agenesis

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 WNT10B WNT10A TGFA LRP6 FGFR1 CDH1
2
Show member pathways
12.33 PAX9 FGFR1 BMP4 AXIN2
3
Show member pathways
12.3 WNT10B WNT10A LRP6 FGFR1 AXIN2
4 12.22 WNT10B WNT10A LRP6 CDH1
5
Show member pathways
12.12 WNT10B WNT10A BMP4 AXIN2
6
Show member pathways
12.07 TGFA IRF6 FGFR1 BMP4
7 12.06 PAX9 MSX1 LRP6 BMP4 AXIN2
8
Show member pathways
12.03 WNT10B WNT10A LRP6 AXIN2
9 11.98 WNT10B WNT10A LRP6 AXIN2
10 11.98 WNT10B WNT10A LRP6 CDH1 AXIN2
11 11.95 WNT10B WNT10A TGFA LRP6 FGFR1 CDH1
12 11.92 WNT10B WNT10A CDH1 BMP4 AXIN2
13 11.81 WNT10B WNT10A FGFR1 BMP4 AXIN2
14 11.73 EDARADD EDAR EDA
15
Show member pathways
11.6 EDARADD EDAR EDA
16 11.36 MSX1 FGFR1 CDH1 BMP4 AXIN2

GO Terms for Tooth Agenesis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 WNT10B WNT10A TGFA LRP6 GREM2 FGFR1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.88 WNT10B WNT10A LRP6 AXIN2
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.79 EDARADD EDAR EDA
3 BMP signaling pathway GO:0030509 9.77 MSX1 GREM2 BMP4
4 cell fate commitment GO:0045165 9.74 WNT10B WNT10A BMP4
5 canonical Wnt signaling pathway GO:0060070 9.73 WNT10B WNT10A LRP6
6 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.72 EDARADD EDAR EDA
7 embryonic limb morphogenesis GO:0030326 9.67 MSX1 LRP6 BMP4
8 hair follicle development GO:0001942 9.63 WNT10A EDAR EDA
9 roof of mouth development GO:0060021 9.62 SUMO1 MSX1 LRP6 IRF6
10 embryonic morphogenesis GO:0048598 9.61 MSX1 BMP4
11 positive regulation of ossification GO:0045778 9.61 WNT10B BMP4
12 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.6 MSX1 BMP4
13 secondary heart field specification GO:0003139 9.58 BMP4 AXIN2
14 face morphogenesis GO:0060325 9.58 PAX9 MSX1 LRP6
15 skin development GO:0043588 9.56 WNT10A IRF6 EDA DSP
16 odontogenesis of dentin-containing tooth GO:0042475 9.55 MSX1 LRP6 EDAR EDA BMP4
17 neural crest cell differentiation GO:0014033 9.54 WNT10A LRP6
18 pituitary gland development GO:0021983 9.54 MSX1 CDH1 BMP4
19 BMP signaling pathway involved in heart development GO:0061312 9.52 MSX1 BMP4
20 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.51 WNT10A BMP4
21 salivary gland cavitation GO:0060662 9.48 EDAR EDA
22 regulation of odontogenesis GO:0042481 9.43 PAX9 MSX1
23 multicellular organism development GO:0007275 9.4 WNT10B WNT10A PAX9 MSX1 LRP6 GREM2
24 odontogenesis GO:0042476 9.35 WNT10A PAX9 MSX1 BMP4 AXIN2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 WNT10B WNT10A GREM2 BMP4
2 frizzled binding GO:0005109 9.13 WNT10B WNT10A LRP6
3 receptor ligand activity GO:0048018 8.92 WNT10B WNT10A GREM2 EDA

Sources for Tooth Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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