MCID: TTH002
MIFTS: 63

Tooth Agenesis

Categories: Genetic diseases, Mental diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Tooth Agenesis

MalaCards integrated aliases for Tooth Agenesis:

Name: Tooth Agenesis 11 28 5 14 16 75
Oligodontia 11 58 28 5 33
Hypodontia 11 53 38 75 33
Selective Tooth Agenesis 11 58 5
Tooth Agenesis, Selective 53 5
Congenital Absence of One Tooth 33
Familial Tooth Agenesis 11
Anodontia 43

Characteristics:


Inheritance:

Oligodontia: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Age Of Onset:

Oligodontia: Childhood 58

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 11 DOID:0050591
ICD9CM 34 520.0
MeSH 43 D000848
NCIt 49 C172328
SNOMED-CT 68 234951001
ICD10 31 K00.0
ICD10 via Orphanet 32 K00.0
Orphanet 58 ORPHA99798
UMLS 71 C0399352

Summaries for Tooth Agenesis

Orphanet: 58 Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

MalaCards based summary: Tooth Agenesis, also known as oligodontia, is related to tooth agenesis, selective, 1 and ectodermal dysplasia 13, hair/tooth type. An important gene associated with Tooth Agenesis is PAX9 (Paired Box 9), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Malignant pleural mesothelioma. The drugs Amoxicillin and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are oligodontia and impaired mastication

Disease Ontology: 11 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. It... more...

Related Diseases for Tooth Agenesis

Diseases in the Tooth Agenesis family:

Nonsyndromic Tooth Agenesis

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

(show top 50) (show all 450)
# Related Disease Score Top Affiliating Genes
1 tooth agenesis, selective, 1 33.6 PAX9 MSX1 ITPA EDA
2 ectodermal dysplasia 13, hair/tooth type 32.5 WNT10B WNT10A PAX9 MSX1 LRP6 AXIN2
3 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 32.0 WNT10A RANBP2 EDARADD EDAR
4 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 31.9 EDARADD EDAR
5 ectodermal dysplasia 31.7 WNT10A RANBP2 MSX1 EDARADD EDAR EDA
6 cleft lip 31.6 TGFA SUMO1 PAX9 MSX1 IRF6 FGFR1
7 anodontia 31.6 WNT10A PAX9 MSX1 LRP6 EDARADD EDAR
8 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.5 WNT10B WNT10A RANBP2 PAX9 MSX1 EDARADD
9 cleft lip/palate 31.4 TGFA MSX1 IRF6 FGFR1
10 cleft palate, isolated 31.4 WNT10B TGFA SUMO1 PAX9 MSX1 LRP6
11 ectodermal dysplasia 1, hypohidrotic, x-linked 31.3 WNT10A PAX9 MSX1 EDARADD EDAR EDA
12 orofacial cleft 31.0 WNT10A TGFA SUMO1 PAX9 MSX1 LRP6
13 schopf-schulz-passarge syndrome 30.9 WNT10A PAX9 EDARADD EDAR EDA
14 chromosome 2q35 duplication syndrome 30.8 WNT10B MSX1 LRP6 IRF6 FGFR1
15 van der woude syndrome 30.8 TGFA PAX9 MSX1 IRF6
16 ankyloglossia with or without tooth anomalies 30.7 PAX9 MSX1 IRF6
17 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 30.6 RANBP2 PAX9 EDARADD EDAR EDA
18 hypotrichosis 30.6 WNT10A EDARADD EDAR EDA
19 anhidrosis 30.5 EDARADD EDAR EDA
20 cleidocranial dysplasia 1 30.5 PTH1R PAX9 MSX1
21 treacher collins syndrome 1 30.5 PAX9 MSX1 IRF6
22 hypohidrotic ectodermal dysplasia autosomal recessive 30.5 WNT10A RANBP2 EDARADD EDAR
23 orofacial cleft 5 30.5 PAX9 MSX1
24 cleft lip and alveolus 30.4 MSX1 IRF6
25 cleft lip with or without cleft palate 30.4 TGFA MSX1
26 isolated cleft lip 30.4 MSX1 IRF6
27 osteochondrodysplasia 30.4 PTH1R MSX1 LRP6 FGFR1
28 hair disease 30.4 EDARADD EDAR EDA
29 tooth agenesis, selective, 4 11.7
30 tooth agenesis, selective, 3 11.7
31 tooth agenesis, selective, x-linked, 1 11.7
32 tooth agenesis, selective, 7 11.6
33 tooth agenesis, selective, 8 11.6
34 tooth agenesis, selective, 9 11.6
35 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.5
36 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.5
37 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 11.5
38 polr3-related leukodystrophy 11.4
39 brachymetapody-anodontia-hypotrichosis-albinoidism 11.4
40 short stature, oligodontia, dysmorphic facies, and motor delay 11.4
41 dental anomalies and short stature 11.4
42 cleft palate stapes fixation oligodontia 11.4
43 adult syndrome 11.4
44 oligodontia-colorectal cancer syndrome 11.3
45 tooth agenesis, selective, 5 11.3
46 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 11.3
47 tooth agenesis, selective, 2 11.3
48 dermatoosteolysis, kirghizian type 11.3
49 deafness-oligodontia syndrome 11.2
50 epidermolysis bullosa simplex with anodontia/hypodontia 11.2

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 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oligodontia 58 30 Obligate (100%) Obligate (100%)
HP:0000677
2 impaired mastication 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005216
3 widely spaced teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000687
4 dental malocclusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000689
5 microdontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000691
6 delayed eruption of permanent teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000696
7 agenesis of central incisor 58 30 Frequent (33%) Frequent (79-30%)
HP:0006289
8 agenesis of maxillary lateral incisor 58 30 Frequent (33%) Frequent (79-30%)
HP:0000690
9 agenesis of first permanent molar tooth 58 30 Frequent (33%) Frequent (79-30%)
HP:0011056
10 short dental root 30 Frequent (33%) HP:0006336
11 taurodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000679
12 short face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011219
13 oral cleft 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000202
14 eclabion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012472
15 abnormality of canine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011078
16 peg-shaped maxillary lateral incisors 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006342
17 abnormality of primary molar morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006344
18 agenesis of mandibular premolar 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011053
19 enamel hypoplasia 30 Occasional (7.5%) HP:0006297
20 delayed eruption of teeth 58 Frequent (79-30%)
21 abnormality of dental morphology 58 Occasional (29-5%)
22 hypoplasia of dental enamel 58 Occasional (29-5%)
23 hypoplasia of teeth 58 Occasional (29-5%)
24 agenesis of premolar 58 Frequent (79-30%)
25 short dental roots 58 Frequent (79-30%)

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

25 (show all 47)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.17 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.17 LRP6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.17 WNT10B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.17 EDA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.17 RANBP2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.17 RANBP2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.17 IRF6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-117 10.17 AXIN2 LRP6 WNT10B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.17 EDAR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.17 FGFR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-144 10.17 EDA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.17 LRP6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.17 LRP6 WNT10B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-155 10.17 IRF6 WNT10B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.17 FGFR1 EDA IRF6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.17 EDAR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.17 RANBP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.17 EDA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.17 FGFR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.17 LRP6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.17 RANBP2 LRP6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.17 LRP6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.17 LRP6 WNT10B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.17 EDA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.17 TGFA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.17 AXIN2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.17 FGFR1 RANBP2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.17 EDA
29 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10.17 WNT10B
30 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.17 AXIN2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-40 10.17 IRF6
32 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.17 FGFR1 IRF6
33 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.17 FGFR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.17 LRP6
35 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.17 FGFR1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.17 IRF6
37 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.17 RANBP2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.17 AXIN2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.17 EDA
40 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.17 EDA
41 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.17 EDAR
42 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.17 LRP6
43 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.17 FGFR1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.17 AXIN2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.17 RANBP2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-94 10.17 EDAR
47 Increased shRNA abundance (Z-score > 2) GR00366-A-95 10.17 EDAR

MGI Mouse Phenotypes related to Tooth Agenesis:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 AXIN2 EDA EDAR EDARADD FGFR1 IRF6
2 nervous system MP:0003631 10.29 AXIN2 EDA EDARADD FGFR1 LRP6 MSX1
3 limbs/digits/tail MP:0005371 10.28 AXIN2 EDA EDAR EDARADD FGFR1 IRF6
4 endocrine/exocrine gland MP:0005379 10.27 AXIN2 EDA EDAR EDARADD FGFR1 MSX1
5 digestive/alimentary MP:0005381 10.27 AXIN2 EDA EDAR FGFR1 IRF6 LRP6
6 craniofacial MP:0005382 10.25 AXIN2 EDA EDAR EDARADD FGFR1 IRF6
7 embryo MP:0005380 10.18 AXIN2 FGFR1 IRF6 LRP6 MSX1 PAX9
8 cardiovascular system MP:0005385 10.1 AXIN2 EDA EDAR FGFR1 ITPA MSX1
9 skeleton MP:0005390 10.07 AXIN2 EDA EDAR EDARADD FGFR1 IRF6
10 reproductive system MP:0005389 10.02 AXIN2 EDA EDARADD FGFR1 ITPA LRP6
11 hearing/vestibular/ear MP:0005377 10 EDARADD FGFR1 IRF6 LRP6 MSX1 PAX9
12 respiratory system MP:0005388 9.91 EDA EDARADD ITPA LRP6 MSX1 PAX9
13 vision/eye MP:0005391 9.85 AXIN2 EDA EDAR EDARADD FGFR1 LRP6
14 mortality/aging MP:0010768 9.83 AXIN2 EDA EDAR EDARADD FGFR1 IRF6
15 integument MP:0010771 9.36 AXIN2 EDA EDAR EDARADD FGFR1 IRF6

Drugs & Therapeutics for Tooth Agenesis

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

(show all 25)
# 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
Melatonin Approved, Nutraceutical, Vet_approved Phase 2 73-31-4 896
6 Antioxidants Phase 2
7 Protective Agents Phase 2
8
Cobalt Approved, Experimental, Withdrawn 7440-48-4 104729
9
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
10
Denosumab Approved 615258-40-7
11
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
12
Lithium carbonate Approved 554-13-2
13 Antibiotics, Antitubercular
14 Anti-Bacterial Agents
15 Anesthetics
16 Adjuvants, Immunologic
17 Viscosupplements
18 Immunologic Factors
19 Diphosphonates
20 Immunoglobulins, Intravenous
21 Immunoglobulins
22 Immunoglobulin A
23 Antibodies
24 Psychotropic Drugs
25 Antidepressive Agents

Interventional clinical trials:

(show top 50) (show all 53)
# 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 Completed NCT01541345 Phase 3 InductOs
3 Evaluation of Local Delivered Platelet Rich Fibrin Versus Melatonin Gel on the Osseointegration of Dental Implant. A Randomized Controlled Clinical Trial Completed NCT05593731 Phase 2
4 Frequency of Hypodontia After Chemotherapy in Childhood Cancer Survivors: A Cross Sectional Study Unknown status NCT03445026
5 Hypodontia and Ovarian Cancer - the Connection Between Dental Agenesis and Epithelial Cancers, Especially Ovarian Cancer. Unknown status NCT01470235
6 Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders Unknown status NCT00026026
7 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
8 Effect of Neurectomy of Nasopalatine Nerve on Sensation of Anterior Palate in Patient Undergoing Rehabilitation of Atrophic Anterior Maxillary Ridge With Dental Implant Unknown status NCT04153851
9 Clinical Study on Zirconia Bridges Unknown status NCT01835834
10 Evaluation Of Innovative 3D Printed Space Maintainer Versus Conventional One Unknown status NCT04221243
11 Clinical Assessment Of Inlay Retained Bridge Designs (Tub Shaped And Inlay Shaped) In Missing Posterior Teeth Cases. Unknown status NCT03715842
12 Immediate and Early Loading of Hydrothermally Treated, Hydroxyapatite-Coated Dental Implants:a Controlled Randomized Prospective Clinical Study Unknown status NCT02397044
13 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
14 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
15 X-space Implants in Post-extraction Sites. A CBCT Randomized Clinical Trial Unknown status NCT04492111
16 Clinical and Radiological Outcomes Study on Astra Tech Osseospeed Tx Profile Implant Unknown status NCT01510470
17 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
18 A Histomorphometric Analysis of New Bone Formation Following Sinus Augmentation Using Two Different Bone Graft Materials. A Pilot Study in Humans. Completed NCT03059914
19 Platform Switching vs Regular Platform Implants. One Year Results From a RCT Completed NCT02123420
20 A Pilot Study Investigating Oral Health Related Quality of Life Improvements in Removable Partial Denture Treatments for the Replacement of Missing Teeth Completed NCT01953991
21 Comparison of Different Drilling Speed to Classify Bone Quality by Tactile Sensation on a Saw Bone Model Completed NCT03877419
22 A Proof of Concept for All-ceramic Zirconia Resin Bonded Bridges for Canine, Premolar and Short Span Posterior Teeth Official Title: Completed NCT02793037
23 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
24 REFRAME RPD Post-Market Clinical Study Completed NCT03198520
25 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 Completed NCT03645356
26 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
27 Treatment Outcomes With Full Arch Rehabilitations Supported by Immediate or Conventionally Loaded Implants: A Randomized Clinical Trial Completed NCT04930835
28 Patient's Expectation and Satisfaction of Implant-supported Prostheses After Excision of Pathological Jaw Lesions: A Prospective Follow-up Study Completed NCT04873635
29 Evaluation of Two Different Types of Abutments on Post-prosthesis Bone Resorption: A Randomized Controlled Clinical and Radiological Trial Completed NCT05350293
30 Novel Use of 2-unit Cantilever Resin-bonded Bridges for Replacing Missing Molar Teeth - a Randomized Clinical Trial Completed NCT02239718
31 Ultraviolet A and Ultraviolet C Light-induced Effects on Dental Implant Stability Completed NCT05467488
32 Effect of Topical Application of Hyaluronic Acid on Stability of Immediate Loading Dental Implant in Posterior Maxilla Completed NCT05403099
33 Alveolar Ridge Expansion by Osseodensification and Its Impact on Implant Survival and Success: A Case Series Recruiting NCT04741594
34 Outcome of Dental Implant Therapy in Patients Treated With Antiresorptive Medication Recruiting NCT04741906
35 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 Recruiting NCT04713800
36 Comparing the Accuracy of Intraoral Scanning of Ready Made Abutments Versus Intraoral Scan Bodies, Digitized Conventional Open and Closed Tray Implant Impression Techniques. A Controlled Clinical Trial Recruiting NCT04908618
37 Autotransplantation of Teeth With Advanced or Completed Root Development With Intraoperative Extra-corporal Apicoectomy Recruiting NCT04041518
38 Evaluation of a Bioactive Surface in Post-extraction Sites: Case Control Study Recruiting NCT05495867
39 Piezo-surgical Implant Placement With Laser Recruiting NCT04998292
40 Post Market Clinical Follow up (PMCF) Medical Device Registry of Z-Systems Zirconia Dental Products: Z-Systems Registry Z-Systems Sub-Registry Plan: Z5-BL Dental Implants Z-Systems Sub-Registry Plan: Z5-TL Dental Implants Recruiting NCT05427006
41 Hybrid Funnel Technique vs Conventional Drill Osteotomy, a Novel Approach for Implant Site Preparation Recruiting NCT05499533
42 Evaluation of Oral Health Status and Cytokine Levels in Sars-Cov-2 Hospitalized Patients: A Randomized Clinical Trial Recruiting NCT05476848
43 Biomimetic Anterior Resin Bonded Restorations for Adolescent Patients Recruiting NCT05362591
44 Clinical Evaluation of Chairside Computer Assisted Design/Computer Assisted Machining (CAD/CAM) Lithium Disilicate Fixed Partial Dentures (FPD) Active, not recruiting NCT03036566
45 Retention and Durability of the Anterior Zirconia Wing Bridge Active, not recruiting NCT04378140
46 No-preparation Resin Bonded Bridges for the Replacement of Single Missing Teeth Not yet recruiting NCT03029637
47 Effectiveness Evaluation of the Digital Workflow for Single-implant Immediate Loading Not yet recruiting NCT05526677
48 The Use of Bio-Oss Collagen for Sinus Augmentation Using the Transcrestal Approach. Not yet recruiting NCT04581304
49 Prospective Clinical Study on Site Preservation of Alveolar Ridge After Tooth Extraction Before Dental Implantation Not yet recruiting NCT05258019
50 Dental Implant Treatment for Two Adjacent Teeth in the Maxillary Aesthetic Region: an Evaluation After 10 Years Not yet recruiting NCT05359549

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 Tooth Agenesis 28
2 Oligodontia 28

Anatomical Context for Tooth Agenesis

Organs/tissues related to Tooth Agenesis:

MalaCards : Bone, Bone Marrow, Brain, Eye, Lung, Heart, Skin

Publications for Tooth Agenesis

Articles related to Tooth Agenesis:

(show top 50) (show all 2546)
# Title Authors PMID Year
1
EDA gene mutations underlie non-syndromic oligodontia. 53 62 5
19278982 2009
2
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. 62 5
25629078 2015
3
Oligodontia and curly hair occur with ectodysplasin-a mutations. 62 5
24487376 2014
4
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. 62 5
19623212 2010
5
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. 62 5
16479262 2006
6
Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. 62 5
16236760 2005
7
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. 62 5
14607846 2004
8
A 223-kb de novo deletion of PAX9 in a patient with oligodontia. 53 62
20485064 2010
9
Tooth dimensions in hypodontia with a known PAX9 mutation. 53 62
18653171 2009
10
[Analysis of clinical features and mutation associated with oligodontia]. 53 62
20077892 2009
11
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. 53 62
19551394 2009
12
Polymorphism in the Msx1 gene associated with hypodontia in a Brazilian family. 53 62
19776500 2009
13
Genetic basis of tooth agenesis. 53 62
19219933 2009
14
Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. 53 62
19127222 2009
15
Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth. 53 62
19346736 2009
16
Dental agenesis: genetic and clinical perspectives. 53 62
18771513 2009
17
Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. 53 62
19029074 2008
18
Deletion of PAX9 and oligodontia: a third family and review of the literature. 53 62
18445003 2008
19
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. 53 62
18821982 2008
20
Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia. 53 62
18374898 2008
21
Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes. 53 62
18209213 2008
22
[A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia]. 53 62
18788550 2008
23
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. 53 62
18199077 2008
24
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. 53 62
18688569 2008
25
Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies. 53 62
18028048 2007
26
A novel missense mutation in the paired domain of human PAX9 causes oligodontia. 53 62
17910065 2007
27
Association between polymorphism in the promoter region (G/C-915) of PAX9 gene and third molar agenesis. 53 62
19089165 2007
28
Cranial suture biology and dental development: genetic and clinical perspectives. 53 62
17686002 2007
29
A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. 53 62
17697174 2007
30
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. 53 62
17256800 2007
31
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? 53 62
17032400 2006
32
Exclusion of coding region mutations in MSX1, PAX9 and AXIN2 in eight patients with severe oligodontia phenotype. 53 62
16918677 2006
33
Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. 53 62
16585527 2006
34
A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia? 53 62
16682758 2006
35
A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 53 62
16583127 2006
36
Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. 53 62
16937863 2006
37
Association between PAX-9 promoter polymorphisms and hypodontia in humans. 53 62
16137495 2005
38
[Functional analysis of novel mutations in PAX9 associated with familial oligodontia]. 53 62
16086281 2005
39
[Novel mutations of PAX9 gene in Chinese patients with oligodontia]. 53 62
16191360 2005
40
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. 53 62
14689302 2004
41
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. 53 62
14630905 2003
42
Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. 53 62
14630904 2003
43
Novel mutations in the IRF6 gene for Van der Woude syndrome. 53 62
12920575 2003
44
Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. 53 62
12786960 2003
45
Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. 53 62
12733956 2003
46
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. 53 62
12605438 2003
47
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. 53 62
11941488 2002
48
A novel mutation in human PAX9 causes molar oligodontia. 53 62
11827258 2002
49
Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. 53 62
11781684 2001
50
The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis. 53 62
11374781 2001

Variations for Tooth Agenesis

ClinVar genetic disease variations for Tooth Agenesis:

5 (show top 50) (show all 98)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP6 NM_002336.3(LRP6):c.4593del (p.Cys1532fs) DEL Pathogenic
225147 rs869320635 GRCh37: 12:12274309-12274309
GRCh38: 12:12121375-12121375
2 PAX9 NM_001372076.1(PAX9):c.146C>T (p.Ser49Leu) SNV Pathogenic
1064704 GRCh37: 14:37132243-37132243
GRCh38: 14:36663038-36663038
3 PAX9 NM_001372076.1(PAX9):c.140G>C (p.Arg47Pro) SNV Pathogenic
1064705 GRCh37: 14:37132237-37132237
GRCh38: 14:36663032-36663032
4 PAX9 NM_001372076.1(PAX9):c.243del (p.Thr82fs) DEL Pathogenic
1064706 GRCh37: 14:37132336-37132336
GRCh38: 14:36663131-36663131
5 PAX9 NM_001372076.1(PAX9):c.409C>T (p.Gln137Ter) SNV Pathogenic
1064707 GRCh37: 14:37132506-37132506
GRCh38: 14:36663301-36663301
6 MSX1 NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter) INSERT Pathogenic
1064708 GRCh37: 4:4864534-4864535
GRCh38: 4:4862807-4862808
7 PAX9 NM_001372076.1(PAX9):c.152G>T (p.Gly51Val) SNV Pathogenic
1119978 GRCh37: 14:37132249-37132249
GRCh38: 14:36663044-36663044
8 PAX9 NM_001372076.1(PAX9):c.428dup (p.Tyr143Ter) DUP Pathogenic
1458120 GRCh37: 14:37132524-37132525
GRCh38: 14:36663319-36663320
9 PAX9 NM_001372076.1(PAX9):c.482C>A (p.Ser161Ter) SNV Pathogenic
1351209 GRCh37: 14:37132579-37132579
GRCh38: 14:36663374-36663374
10 PAX9 NM_001372076.1(PAX9):c.420C>A (p.Tyr140Ter) SNV Pathogenic
1351539 GRCh37: 14:37132517-37132517
GRCh38: 14:36663312-36663312
11 LRP6 NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter) SNV Pathogenic
689556 rs1591901585 GRCh37: 12:12315188-12315188
GRCh38: 12:12162254-12162254
12 PAX9 NM_001372076.1(PAX9):c.608del (p.Gly203fs) DEL Pathogenic
1075023 GRCh37: 14:37132703-37132703
GRCh38: 14:36663498-36663498
13 PAX9 NM_001372076.1(PAX9):c.72_76dup (p.Arg26fs) DUP Pathogenic
1076521 GRCh37: 14:37132167-37132168
GRCh38: 14:36662962-36662963
14 WNT10A NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) SNV Pathogenic
334414 rs34972707 GRCh37: 2:219757826-219757826
GRCh38: 2:218893104-218893104
15 RANBP2, EDAR NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) SNV Pathogenic
986783 rs1475705727 GRCh37: 2:109545672-109545672
GRCh38: 2:108929216-108929216
16 ITPA NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) DUP Pathogenic
218091 rs1407446171 GRCh37: 20:3199224-3199225
GRCh38: 20:3218578-3218579
17 PTH1R NM_000316.3(PTH1R):c.1201C>T (p.Gln401Ter) SNV Pathogenic
1708330 GRCh37: 3:46943340-46943340
GRCh38: 3:46901850-46901850
18 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) SNV Pathogenic
Pathogenic
4462 rs121908120 GRCh37: 2:219755011-219755011
GRCh38: 2:218890289-218890289
19 LRP6 NM_002336.3(LRP6):c.3398-2A>C SNV Pathogenic
225148 rs869320636 GRCh37: 12:12291470-12291470
GRCh38: 12:12138536-12138536
20 AXIN2 NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs) DUP Pathogenic
599333 rs1567755946 GRCh37: 17:63533681-63533682
GRCh38: 17:65537563-65537564
21 PAX9 NM_001372076.1(PAX9):c.455_456insCTACACCT (p.Ala153fs) INSERT Pathogenic
1072066 GRCh37: 14:37132552-37132553
GRCh38: 14:36663347-36663348
22 PAX9 NM_001372076.1(PAX9):c.451C>T (p.Gln151Ter) SNV Pathogenic
1070666 GRCh37: 14:37132548-37132548
GRCh38: 14:36663343-36663343
23 PAX9 NM_001372076.1(PAX9):c.180C>A (p.Tyr60Ter) SNV Pathogenic
526772 rs1555316704 GRCh37: 14:37132277-37132277
GRCh38: 14:36663072-36663072
24 EDA NM_001399.5(EDA):c.866G>A (p.Arg289His) SNV Likely Pathogenic
228257 rs876657641 GRCh37: X:69253320-69253320
GRCh38: X:70033470-70033470
25 PAX9 NM_001372076.1(PAX9):c.2T>A (p.Met1Lys) SNV Likely Pathogenic
649310 rs1594465933 GRCh37: 14:37131296-37131296
GRCh38: 14:36662091-36662091
26 LRP6 NM_002336.3(LRP6):c.517C>G (p.Arg173Gly) SNV Likely Pathogenic
225149 rs869320637 GRCh37: 12:12356267-12356267
GRCh38: 12:12203333-12203333
27 LRP6 NM_002336.3(LRP6):c.1406C>T (p.Pro469Leu) SNV Likely Pathogenic
225150 rs869320638 GRCh37: 12:12332883-12332883
GRCh38: 12:12179949-12179949
28 LRP6 NM_002336.3(LRP6):c.1609G>A (p.Gly537Arg) SNV Likely Pathogenic
225151 rs869320639 GRCh37: 12:12318166-12318166
GRCh38: 12:12165232-12165232
29 LRP6 NM_002336.3(LRP6):c.2994+1G>A SNV Likely Pathogenic
225152 rs866789963 GRCh37: 12:12303769-12303769
GRCh38: 12:12150835-12150835
30 LRP6 NM_002336.3(LRP6):c.4082-2A>G SNV Likely Pathogenic
225153 rs869320640 GRCh37: 12:12279857-12279857
GRCh38: 12:12126923-12126923
31 RANBP3-DT, RFX2 NM_000635.4(RFX2):c.1421T>C (p.Ile474Thr) SNV Likely Pathogenic
1285613 GRCh37: 19:6004291-6004291
GRCh38: 19:6004280-6004280
32 EDARADD NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile) SNV Likely Pathogenic
929423 rs1030214435 GRCh37: 1:236645714-236645714
GRCh38: 1:236482414-236482414
33 POLR3GL NM_032305.3(POLR3GL):c.326-1G>A SNV Likely Pathogenic
617636 rs1553763618 GRCh37: 1:145457605-145457605
GRCh38: 1:145977482-145977482
34 POLR3GL NM_032305.3(POLR3GL):c.-41-1G>A SNV Likely Pathogenic
617676 rs782661984 GRCh37: 1:145460264-145460264
GRCh38: 1:145974824-145974824
35 EDA NM_001399.5(EDA):c.1094T>C (p.Val365Ala) SNV Likely Pathogenic
44185 rs397516654 GRCh37: X:69255377-69255377
GRCh38: X:70035527-70035527
36 overlap with 2 genes DEL Uncertain Significance
635872 GRCh37: 14:37145358-37162210
GRCh38:
37 KDF1 NM_152365.3(KDF1):c.920G>C (p.Arg307Pro) SNV Uncertain Significance
1301903 GRCh37: 1:27277952-27277952
GRCh38: 1:26951461-26951461
38 PAX9 NM_001372076.1(PAX9):c.259A>T (p.Ile87Phe) SNV Uncertain Significance
13775 rs104894468 GRCh37: 14:37132356-37132356
GRCh38: 14:36663151-36663151
39 PAX9 NM_001372076.1(PAX9):c.683T>C (p.Leu228Pro) SNV Uncertain Significance
660509 rs780494094 GRCh37: 14:37135718-37135718
GRCh38: 14:36666513-36666513
40 SEH1L NM_001013437.2(SEH1L):c.550G>A (p.Val184Ile) SNV Uncertain Significance
805791 rs374718956 GRCh37: 18:12971180-12971180
GRCh38: 18:12971181-12971181
41 AAK1 NM_014911.5(AAK1):c.2591C>A (p.Ser864Tyr) SNV Uncertain Significance
805792 rs761855107 GRCh37: 2:69706172-69706172
GRCh38: 2:69479040-69479040
42 VPS54 NM_016516.3(VPS54):c.501G>C (p.Met167Ile) SNV Uncertain Significance
805793 rs1575966808 GRCh37: 2:64193092-64193092
GRCh38: 2:63965958-63965958
43 ANKRD30B NM_001367607.2(ANKRD30B):c.1938del (p.Asp646fs) DEL Uncertain Significance
812590 rs1598636685 GRCh37: 18:14797670-14797670
GRCh38: 18:14797671-14797671
44 PAX9 NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu) SNV Uncertain Significance
13770 rs28933373 GRCh37: 14:37132368-37132368
GRCh38: 14:36663163-36663163
45 PAX9 NM_001372076.1(PAX9):c.697T>C (p.Phe233Leu) SNV Uncertain Significance
639634 rs200733091 GRCh37: 14:37135732-37135732
GRCh38: 14:36666527-36666527
46 LRP6 NM_002336.3(LRP6):c.4136G>A (p.Gly1379Asp) SNV Uncertain Significance
225159 rs869320646 GRCh37: 12:12279801-12279801
GRCh38: 12:12126867-12126867
47 LRP6 NM_002336.3(LRP6):c.4298C>T (p.Ser1433Leu) SNV Uncertain Significance
225160 rs869320647 GRCh37: 12:12279639-12279639
GRCh38: 12:12126705-12126705
48 PAX9 NM_001372076.1(PAX9):c.*1051T>G SNV Uncertain Significance
313186 rs886050495 GRCh37: 14:37146708-37146708
GRCh38: 14:36677503-36677503
49 PAX9 NM_001372076.1(PAX9):c.*518_*521del DEL Uncertain Significance
313181 rs564902020 GRCh37: 14:37146172-37146175
GRCh38: 14:36676967-36676970
50 PAX9 NM_001372076.1(PAX9):c.*344_*345del DEL Uncertain Significance
313178 rs748540311 GRCh37: 14:37146001-37146002
GRCh38: 14:36676796-36676797

Expression for Tooth Agenesis

Search GEO for disease gene expression data for Tooth Agenesis.

Pathways for Tooth Agenesis

GO Terms for Tooth Agenesis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.95 WNT10B WNT10A LRP6 AXIN2
2 cell population proliferation GO:0008283 9.91 WNT10B PTH1R IRF6 AXIN2
3 roof of mouth development GO:0060021 9.91 SUMO1 MSX1 IRF6
4 odontogenesis of dentin-containing tooth GO:0042475 9.88 MSX1 EDAR EDA
5 neural crest cell differentiation GO:0014033 9.8 WNT10A LRP6
6 hair follicle development GO:0001942 9.77 EDA EDAR WNT10A
7 multicellular organism development GO:0007275 9.63 WNT10B WNT10A FGFR1
8 skin development GO:0043588 9.62 WNT10A IRF6 EDA
9 salivary gland cavitation GO:0060662 9.56 EDAR EDA
10 canonical Wnt signaling pathway GO:0060070 9.56 WNT10B WNT10A LRP6 EDA
11 regulation of odontogenesis GO:0042481 9.46 PAX9 MSX1
12 odontogenesis GO:0042476 9.17 WNT10A PAX9 MSX1 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 9.43 WNT10B WNT10A LRP6
2 receptor ligand activity GO:0048018 9.23 WNT10B WNT10A TGFA EDA

Sources for Tooth Agenesis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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