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MCID: TTH002
MIFTS: 53

Tooth Agenesis

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

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MalaCards integrated aliases for Tooth Agenesis:

Name: Tooth Agenesis 12 38 6 15 17
Selective Tooth Agenesis 12 60 30 6
Oligodontia 12 60 30 6
Hypodontia 12 56 41
Tooth Agenesis, Selective 56
Familial Tooth Agenesis 12
Anodontia 45

Characteristics:

Orphanet epidemiological data:

60
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: 34 35
Orphanet: 60  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0050591
KEGG 38 H00625
ICD9CM 36 520.0
MeSH 45 D000848
SNOMED-CT 69 16958000 26624006
ICD10 34 K00.0
ICD10 via Orphanet 35 K00.0
Orphanet 60 ORPHA99798
SNOMED-CT via HPO 70 32337007 32958008
UMLS 74 C0399352
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Summaries for Tooth Agenesis

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

MalaCards based summary : Tooth Agenesis, also known as selective tooth agenesis, is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and tooth size. An important gene associated with Tooth Agenesis is LRP6 (LDL Receptor Related Protein 6), and among its related pathways/superpathways are Wnt signaling pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include bone, and related phenotypes are micrognathia and microdontia

Wikipedia : 77 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 210)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.9 EDAR EDARADD
2 tooth size 31.0 BMP4 MSX1 PAX9
3 cleft lip/palate 30.8 BMP4 CDH1 FGFR1 IRF6 MSX1 TGFA
4 ectodermal dysplasia 30.7 DSP EDA EDAR EDARADD WNT10A
5 hypohidrotic ectodermal dysplasia autosomal recessive 30.5 EDAR EDARADD WNT10A
6 anodontia 30.4 AXIN2 EDA EDARADD MSX1 PAX9
7 cleft lip 30.4 BMP4 CDH1 FGFR1 IRF6 MSX1 PAX9
8 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.3 EDA EDAR EDARADD MSX1 PAX9 WNT10A
9 cleft palate, isolated 30.1 BMP4 FGFR1 IRF6 MSX1 PAX9 TGFA
10 tooth agenesis, selective, 1 12.7
11 tooth agenesis, selective, 4 12.5
12 tooth agenesis, selective, x-linked, 1 12.5
13 tooth agenesis, selective, 3 12.5
14 tooth agenesis, selective, 7 12.5
15 tooth agenesis, selective, 8 12.5
16 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.5
17 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.5
18 tooth agenesis, selective, 9 12.4
19 tooth agenesis, selective, 5 12.3
20 anodontia of permanent dentition 12.2
21 malposition of teeth with or without hypodontia/oligodontia 12.2
22 hypodontia, x-linked 12.2
23 microdontia hypodontia short stature 12.2
24 brachymetapody-anodontia-hypotrichosis-albinoidism 12.2
25 tooth agenesis, selective, 2 12.2
26 facial dysmorphism, selective tooth agenesis, and choroid calcification 12.1
27 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 12.1
28 epidermolysis bullosa simplex with anodontia/hypodontia 12.1
29 cleft palate, deafness, and oligodontia 12.1
30 split-hand and split-foot with hypodontia 12.0
31 congenital heart disease ptosis hypodontia craniostosis 12.0
32 hypodontia of incisors and premolars 12.0
33 cleft lip palate oligodontia syndactyly pili torti 12.0
34 cleft palate stapes fixation oligodontia 12.0
35 syringomas natal teeth oligodontia 12.0
36 witkop syndrome 11.9
37 adult syndrome 11.9
38 schopf-schulz-passarge syndrome 11.8
39 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.8
40 zadik barak levin syndrome 11.7
41 polr3-related leukodystrophy 11.7
42 oligodontia-colorectal cancer syndrome 11.7
43 aloi tomasini isaia syndrome 11.6
44 dermatoosteolysis, kirghizian type 11.6
45 deafness-oligodontia syndrome 11.5
46 dental anomalies and short stature 11.5
47 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.4
48 rapp-hodgkin syndrome 11.4
49 martinez monasterio pinheiro syndrome 11.3
50 mehta lewis patton syndrome 11.3

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



Diseases related to Tooth Agenesis
Sources

Symptoms & Phenotypes for Tooth Agenesis

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Human phenotypes related to Tooth Agenesis:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
2 microdontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000691
3 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
4 oligodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000677
5 abnormality of the face 60 Very frequent (99-80%)
6 abnormality of dental morphology 60 Very frequent (99-80%)

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

27 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.83 WNT10B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.83 AXIN2 LRP6 WNT10B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.83 LRP6 WNT10B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.83 WNT10B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.83 WNT10B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.83 LRP6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.83 LRP6 WNT10B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.83 AXIN2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.83 WNT10B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.83 WNT10B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.83 AXIN2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 EDA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.72 IRF6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 IRF6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 FGFR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.72 FGFR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.72 TGFA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 EDA FGFR1 IRF6 TGFA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 IRF6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.72 FGFR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.72 TGFA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.72 EDA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 FGFR1 IRF6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 FGFR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 FGFR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.72 IRF6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 EDA FGFR1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 EDA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.72 FGFR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 TGFA

MGI Mouse Phenotypes related to Tooth Agenesis:

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

Drugs & Therapeutics for Tooth Agenesis

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders Unknown status NCT00026026

Search NIH Clinical Center for Tooth Agenesis

Cochrane evidence based reviews: anodontia

Sources

Genetic Tests for Tooth Agenesis

About this section

Genetic tests related to Tooth Agenesis:

# Genetic test Affiliating Genes
1 Selective Tooth Agenesis 30
2 Oligodontia 30
Sources

Anatomical Context for Tooth Agenesis

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MalaCards organs/tissues related to Tooth Agenesis:

42
Bone
Sources

Publications for Tooth Agenesis

About this section

Articles related to Tooth Agenesis:

(show top 50) (show all 183)
# Title Authors Year
1
A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis. ( 30913450 )
2019
2
KDF1 is a novel candidate gene of non-syndromic tooth agenesis. ( 30384154 )
2019
3
Tooth agenesis: part 1. Incidence and diagnosis in orthodontics. ( 30759978 )
2019
4
Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series. ( 29114927 )
2018
5
Tooth agenesis: A susceptible indicator for colorectal cancer? ( 29893310 )
2018
6
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis. ( 29772684 )
2018
7
Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development. ( 29445242 )
2018
8
WNT10A mutation results in severe tooth agenesis in a family of three sisters. ( 29927056 )
2018
9
A review on non-syndromic tooth agenesis associated with <i>PAX9</i> mutations. ( 29628999 )
2018
10
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. ( 29436111 )
2018
11
Genetic analysis: Wnt and other pathways in non-syndromic tooth agenesis. ( 29969831 )
2018
12
Rare and Common Variants Conferring Risk of Tooth Agenesis. ( 29364747 )
2018
13
Nonsyndromic cleft lip and palate, gastric cancer and tooth agenesis. ( 29274157 )
2018
14
Non-syndromic cleft lip with or without palate susceptible loci are associated with tooth agenesis. ( 30578605 )
2018
15
Novel mutations identified in patients with tooth agenesis by whole-exome sequencing. ( 30417976 )
2018
16
Diagnosis of Tooth Agenesis in Childhood and Risk for Neoplasms in Adulthood. ( 30559619 )
2018
17
Associations between tooth agenesis and displaced maxillary canines: a cross-sectional radiographic study. ( 30027405 )
2018
18
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. ( 30046887 )
2018
19
Frequency of missing teeth and reduction of mesiodistal tooth width in Japanese patients with tooth agenesis. ( 30123921 )
2018
20
Non-syndromic tooth agenesis patterns and their association with other dental anomalies: A retrospective study. ( 30172942 )
2018
21
Further evidence for the role of WNT10A, WNT10B and GREM2 as candidate genes for isolated tooth agenesis. ( 30246922 )
2018
22
Third molar tooth agenesis and pattern of impaction in patients with palatally displaced canines. ( 30324806 )
2018
23
Patterns of non-syndromic permanent tooth agenesis in a large orthodontic population. ( 28288390 )
2017
24
Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing. ( 28265457 )
2017
25
Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: A review. ( 28759178 )
2017
26
PAX9 gene mutations and tooth agenesis: A review. ( 28155232 )
2017
27
Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype. ( 28910570 )
2017
28
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
29
A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients. ( 28681357 )
2017
30
Association between EDAR Polymorphisms and Non-Syndromic Tooth Agenesis in the Chinese Han Population. ( 28808699 )
2017
31
GREM2 nucleotide variants and the risk of tooth agenesis. ( 28992378 )
2017
32
WNT10A variants isolated from Japanese patients with congenital tooth agenesis. ( 29367877 )
2017
33
Association between Tooth Agenesis and Skeletal Malocclusions. ( 28791079 )
2017
34
Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. ( 29023497 )
2017
35
Prevalence of delayed tooth development and its relation to tooth agenesis in Korean children. ( 27810381 )
2017
36
Nonsyndromic oligodontia : Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation? ( 28204848 )
2017
37
Permanent tooth agenesis in individuals with non-syndromic Robin sequence: a systematic review and meta-analysis. ( 29027749 )
2017
38
Tooth agenesis code (TAC) in complete unilateral and bilateral cleft lip and palate patients. ( 29243181 )
2017
39
Dental anomaly patterns associated with tooth agenesis. ( 28121195 )
2017
40
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. ( 28813618 )
2017
41
Establishment of a congenital tooth agenesis related gene MSX1 knockout human embryonic stem cell lines by CRISPR-Cas9 technology. ( 29034883 )
2017
42
Craniofacial shape differs in patients with tooth agenesis: geometric morphometric analysis. ( 27464525 )
2016
43
DNA methylation is critical for tooth agenesis: implications for sporadic non-syndromic anodontia and hypodontia. ( 26759063 )
2016
44
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis. ( 27090353 )
2016
45
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. ( 27665865 )
2016
46
A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis. ( 26833927 )
2016
47
Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns. ( 27933446 )
2016
48
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. ( 26963285 )
2016
49
Prevalence and patterns of permanent tooth agenesis in individuals with Down syndrome: a meta-analysis. ( 27311636 )
2016
50
Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis. ( 27365112 )
2016
Sources

Variations for Tooth Agenesis

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ClinVar genetic disease variations for Tooth Agenesis:

6 (show top 50) (show all 208)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh37 Chromosome 2, 219755011: 219755011
2 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh38 Chromosome 2, 218890289: 218890289
3 WNT10A NM_025216.2(WNT10A): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs146902156 GRCh37 Chromosome 2, 219754978: 219754978
4 WNT10A NM_025216.2(WNT10A): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs146902156 GRCh38 Chromosome 2, 218890256: 218890256
5 AXIN2 NM_004655.3(AXIN2): c.1168A> G (p.Ser390Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139871607 GRCh37 Chromosome 17, 63534353: 63534353
6 AXIN2 NM_004655.3(AXIN2): c.1168A> G (p.Ser390Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139871607 GRCh38 Chromosome 17, 65538235: 65538235
7 AXIN2 NM_004655.3(AXIN2): c.2272G> A (p.Ala758Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145007501 GRCh37 Chromosome 17, 63530163: 63530163
8 AXIN2 NM_004655.3(AXIN2): c.2272G> A (p.Ala758Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145007501 GRCh38 Chromosome 17, 65534045: 65534045
9 WNT10A NM_025216.2(WNT10A): c.637G> A (p.Gly213Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147680216 GRCh37 Chromosome 2, 219754966: 219754966
10 WNT10A NM_025216.2(WNT10A): c.637G> A (p.Gly213Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147680216 GRCh38 Chromosome 2, 218890244: 218890244
11 LRP6 NM_002336.2(LRP6): c.4593delC (p.Cys1532Alafs) deletion Pathogenic rs869320635 GRCh37 Chromosome 12, 12274309: 12274309
12 LRP6 NM_002336.2(LRP6): c.4593delC (p.Cys1532Alafs) deletion Pathogenic rs869320635 GRCh38 Chromosome 12, 12121375: 12121375
13 LRP6 NM_002336.2(LRP6): c.4298C> T (p.Ser1433Leu) single nucleotide variant Uncertain significance rs869320647 GRCh37 Chromosome 12, 12279639: 12279639
14 LRP6 NM_002336.2(LRP6): c.4298C> T (p.Ser1433Leu) single nucleotide variant Uncertain significance rs869320647 GRCh38 Chromosome 12, 12126705: 12126705
15 LRP6 NM_002336.2(LRP6): c.4136G> A (p.Gly1379Asp) single nucleotide variant Uncertain significance rs869320646 GRCh37 Chromosome 12, 12279801: 12279801
16 LRP6 NM_002336.2(LRP6): c.4136G> A (p.Gly1379Asp) single nucleotide variant Uncertain significance rs869320646 GRCh38 Chromosome 12, 12126867: 12126867
17 LRP6 NM_002336.2(LRP6): c.4082-2A> G single nucleotide variant Likely pathogenic rs869320640 GRCh37 Chromosome 12, 12279857: 12279857
18 LRP6 NM_002336.2(LRP6): c.4082-2A> G single nucleotide variant Likely pathogenic rs869320640 GRCh38 Chromosome 12, 12126923: 12126923
19 LRP6 NM_002336.2(LRP6): c.3398-2A> C single nucleotide variant Pathogenic rs869320636 GRCh37 Chromosome 12, 12291470: 12291470
20 LRP6 NM_002336.2(LRP6): c.3398-2A> C single nucleotide variant Pathogenic rs869320636 GRCh38 Chromosome 12, 12138536: 12138536
21 LRP6 NM_002336.2(LRP6): c.2994+1G> A single nucleotide variant Likely pathogenic rs866789963 GRCh37 Chromosome 12, 12303769: 12303769
22 LRP6 NM_002336.2(LRP6): c.2994+1G> A single nucleotide variant Likely pathogenic rs866789963 GRCh38 Chromosome 12, 12150835: 12150835
23 LRP6 NM_002336.2(LRP6): c.1609G> A (p.Gly537Arg) single nucleotide variant Likely pathogenic rs869320639 GRCh37 Chromosome 12, 12318166: 12318166
24 LRP6 NM_002336.2(LRP6): c.1609G> A (p.Gly537Arg) single nucleotide variant Likely pathogenic rs869320639 GRCh38 Chromosome 12, 12165232: 12165232
25 LRP6 NM_002336.2(LRP6): c.1406C> T (p.Pro469Leu) single nucleotide variant Likely pathogenic rs869320638 GRCh37 Chromosome 12, 12332883: 12332883
26 LRP6 NM_002336.2(LRP6): c.1406C> T (p.Pro469Leu) single nucleotide variant Likely pathogenic rs869320638 GRCh38 Chromosome 12, 12179949: 12179949
27 LRP6 NM_002336.2(LRP6): c.517C> G (p.Arg173Gly) single nucleotide variant Likely pathogenic rs869320637 GRCh38 Chromosome 12, 12203333: 12203333
28 LRP6 NM_002336.2(LRP6): c.517C> G (p.Arg173Gly) single nucleotide variant Likely pathogenic rs869320637 GRCh37 Chromosome 12, 12356267: 12356267
29 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh37 Chromosome 2, 219754840: 219754840
30 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh38 Chromosome 2, 218890118: 218890118
31 PAX9 NM_006194.3(PAX9): c.718G> C (p.Ala240Pro) single nucleotide variant Benign/Likely benign rs4904210 GRCh38 Chromosome 14, 36666548: 36666548
32 PAX9 NM_006194.3(PAX9): c.718G> C (p.Ala240Pro) single nucleotide variant Benign/Likely benign rs4904210 GRCh37 Chromosome 14, 37135753: 37135753
33 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh38 Chromosome 2, 218880655: 218880655
34 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh37 Chromosome 2, 219745377: 219745377
35 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh38 Chromosome 2, 218880711: 218880711
36 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh37 Chromosome 2, 219745433: 219745433
37 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh38 Chromosome 2, 218880747: 218880747
38 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh37 Chromosome 2, 219745469: 219745469
39 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs561005501 GRCh38 Chromosome 2, 218880793: 218880793
40 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs561005501 GRCh37 Chromosome 2, 219745515: 219745515
41 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh38 Chromosome 2, 218882196: 218882196
42 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh37 Chromosome 2, 219746918: 219746918
43 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh38 Chromosome 2, 218882255: 218882255
44 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh37 Chromosome 2, 219746977: 219746977
45 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh38 Chromosome 2, 218882396: 218882396
46 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh37 Chromosome 2, 219747118: 219747118
47 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh38 Chromosome 2, 218890100: 218890100
48 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh37 Chromosome 2, 219754822: 219754822
49 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh38 Chromosome 2, 218890259: 218890259
50 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh37 Chromosome 2, 219754981: 219754981
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:

38
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Nanog in Mammalian ESC Pluripotency 65
Show member pathways
 13.12 BMP4 CDH1 FGFR1 TGFA TGFB3 WNT10A
2
Endometrial cancer 38
Show member pathways
 12.73 AXIN2 CDH1 FGFR1 TGFA TGFB3
3
Mesodermal Commitment Pathway 1
Show member pathways
 12.39 AXIN2 BMP4 FGFR1 PAX9
4
Human Embryonic Stem Cell Pluripotency 65
Show member pathways
 12.34 BMP4 TGFB3 WNT10A WNT10B
5
mTOR signaling pathway (KEGG) 66
Show member pathways
 12.34 AXIN2 FGFR1 LRP6 WNT10A WNT10B
6
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 66
Show member pathways
 12.32 AXIN2 BMP4 LRP6 WNT10A WNT10B
7
WNT Signaling 65
12.28 CDH1 LRP6 WNT10A WNT10B
8
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.24 BMP4 CDH1 FGFR1 TGFA TGFB3
9
Gastric cancer 38
Show member pathways
 12.22 AXIN2 CDH1 FGFR1 LRP6 TGFA TGFB3
10
Human T-cell leukemia virus 1 infection 38
12.2 MSX1 TGFB3 WNT10A WNT10B
11
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.17 AXIN2 LRP6 WNT10A WNT10B
12
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.1 BMP4 FGFR1 IRF6 TGFA TGFB3
13
Wnt / Hedgehog / Notch 4
12.06 AXIN2 BMP4 LRP6 MSX1 PAX9 TGFB3
14
Pathways in cancer 38
12 AXIN2 BMP4 CDH1 FGFR1 LRP6 TGFA
15
Colorectal Cancer Metastasis 65
11.95 AXIN2 CDH1 LRP6 TGFB3 WNT10A WNT10B
16
Signaling pathways regulating pluripotency of stem cells 38
11.94 AXIN2 BMP4 FGFR1 WNT10A WNT10B
17
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.92 BMP4 CDH1 FGFR1 TGFA TGFB3
18
Cell cycle Cell cycle (generic schema) 23
Show member pathways
 11.85 CDH1 LRP6 WNT10A WNT10B
19
Hippo signaling pathway 38
11.82 AXIN2 BMP4 CDH1 TGFB3 WNT10A WNT10B
20
Neural Crest Differentiation 1
11.77 AXIN2 BMP4 CDH1 FGFR1 MSX1
21
Angiogenesis (CST) 4
11.69 FGFR1 TGFA TGFB3
22
G-protein signaling_RhoA regulation pathway 23
11.6 BMP4 FGFR1 TGFA TGFB3
23
TNFs bind their physiological receptors 67
11.11 EDA EDAR EDARADD
24
G-protein signaling_Rap2B regulation pathway 23
10.88 BMP4 CDH1 FGFR1 TGFA TGFB3
25
Hypothetical Craniofacial Development Pathway 1
10.44 IRF6 TGFB3
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 BMP4 CDH1 EDA FGFR1 GREM2 LRP6

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

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

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 LRP6 WNT10A WNT10B
Sources

Sources for Tooth Agenesis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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