MCID: TTH002
MIFTS: 54

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 14
Selective Tooth Agenesis 12 55 28
Oligodontia 12 55 28
Hypodontia 12 28 51
Tooth Agenesis, Selective 51
Familial Tooth Agenesis 12
Anodontia 41

Characteristics:

Orphanet epidemiological data:

55
oligodontia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0050591
ICD10 32 K00.0
ICD9CM 34 520.0
MeSH 41 D000848
Orphanet 55 ORPHA99798
ICD10 via Orphanet 33 K00.0
KEGG 36 H00625
SNOMED-CT via HPO 65 32958008 32337007
UMLS 69 C0399352

Summaries for Tooth Agenesis

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 and anodontia, and has symptoms including hypoplasia of the maxilla, micrognathia and oligodontia. 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 heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 72 In dentistry, hypodontia is the condition at which the patient has missing teeth as a result of the... 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 73)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 30.9 EDA EDAR EDARADD
2 anodontia 30.4 AXIN2 EDA EDARADD MSX1 PAX9
3 cleft lip 30.4 BMP4 FGFR1 IRF6 MSX1 PAX9 SUMO1
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.3 EDA EDAR EDARADD MSX1 PAX9 WNT10A
5 orofacial cleft 30.2 BMP4 FGFR1 IRF6 MSX1 PAX9 SUMO1
6 cleft lip/palate 30.2 BMP4 CDH1 FGFR1 IRF6 MSX1 TGFA
7 cleft palate, isolated 30.0 BMP4 FGFR1 IRF6 MSX1 PAX9 TGFA
8 tooth agenesis, selective, 1 12.5
9 tooth agenesis, selective, 4 12.3
10 tooth agenesis, selective, x-linked, 1 12.3
11 tooth agenesis, selective, 3 12.3
12 deafness-oligodontia syndrome 12.3
13 tooth agenesis, selective, 7 12.3
14 tooth agenesis, selective, 8 12.3
15 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.3
16 tooth agenesis, selective, 9 12.2
17 tooth agenesis, selective, 5 12.1
18 malposition of teeth with or without hypodontia/oligodontia 12.0
19 hypodontia, x-linked 12.0
20 tooth agenesis, selective, 2 12.0
21 microdontia hypodontia short stature 11.9
22 facial dysmorphism, selective tooth agenesis, and choroid calcification 11.9
23 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 11.9
24 epidermolysis bullosa simplex with anodontia/hypodontia 11.9
25 split-hand and split-foot with hypodontia 11.8
26 congenital heart disease ptosis hypodontia craniostosis 11.8
27 hypodontia of incisors and premolars 11.8
28 witkop syndrome 11.7
29 adult syndrome 11.7
30 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.6
31 oligodontia-colorectal cancer syndrome 11.5
32 dental anomalies and short stature 11.3
33 blepharocheilodontic syndrome 1 10.9
34 deafness, congenital, with onychodystrophy, autosomal dominant 10.9
35 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 10.9
36 blepharocheilodontic syndrome 2 10.9
37 cleft lip and alveolus 10.7 IRF6 MSX1
38 tooth size 10.6 BMP4 MSX1 PAX9
39 hypohidrotic ectodermal dysplasia autosomal recessive 10.6 EDAR EDARADD WNT10A
40 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 10.6 EDA EDAR EDARADD
41 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.6 EDAR EDARADD
42 hypohidrosis 10.6 EDA EDAR EDARADD
43 sweat gland disease 10.6 EDA EDAR EDARADD
44 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.6 DSP TGFB3
45 clouston syndrome 10.6 EDA EDAR EDARADD WNT10A
46 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.6 DSP TGFB3
47 synovial chondromatosis 10.5 BMP4 FGFR1 TGFB3
48 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.5 DSP TGFB3
49 hypotrichosis 10.5 EDA EDAR EDARADD WNT10A
50 physical disorder 10.5 IRF6 MSX1 TGFB3

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:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
2 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 oligodontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000677
4 microdontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000691
5 abnormality of the face 55 Very frequent (99-80%)
6 abnormality of dental morphology 55 Very frequent (99-80%)

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

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.53 WNT10B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.53 AXIN2 LRP6 WNT10B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.53 LRP6 WNT10B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.53 WNT10B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.53 WNT10B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.53 LRP6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.53 LRP6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.53 LRP6 WNT10B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.53 AXIN2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.53 WNT10B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.53 WNT10B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.53 AXIN2

MGI Mouse Phenotypes related to Tooth Agenesis:

43 (show all 16)
# 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 cardiovascular system MP:0005385 10.21 AXIN2 BMP4 CDH1 EDAR FGFR1 MSX1
6 embryo MP:0005380 10.21 AXIN2 BMP4 CDH1 DSP FGFR1 IRF6
7 endocrine/exocrine gland MP:0005379 10.19 AXIN2 BMP4 CDH1 EDAR EDARADD FGFR1
8 mortality/aging MP:0010768 10.18 AXIN2 BMP4 CDH1 DSP EDAR EDARADD
9 integument MP:0010771 10.17 BMP4 CDH1 DSP EDAR EDARADD FGFR1
10 limbs/digits/tail MP:0005371 10.14 AXIN2 BMP4 EDAR EDARADD FGFR1 IRF6
11 hearing/vestibular/ear MP:0005377 10 BMP4 EDARADD FGFR1 IRF6 LRP6 MSX1
12 normal MP:0002873 9.91 AXIN2 BMP4 CDH1 FGFR1 LRP6 MSX1
13 muscle MP:0005369 9.87 BMP4 DSP FGFR1 MSX1 PAX9 TGFA
14 reproductive system MP:0005389 9.81 EDAR EDARADD FGFR1 LRP6 PAX9 TGFA
15 skeleton MP:0005390 9.77 AXIN2 BMP4 EDAR EDARADD FGFR1 GREM2
16 vision/eye MP:0005391 9.32 GREM2 LRP6 MSX1 TGFA TGFB3 AXIN2

Drugs & Therapeutics for Tooth Agenesis

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

Genetic Tests for Tooth Agenesis

Genetic tests related to Tooth Agenesis:

# Genetic test Affiliating Genes
1 Hypodontia 28
2 Selective Tooth Agenesis 28
3 Oligodontia 28

Anatomical Context for Tooth Agenesis

MalaCards organs/tissues related to Tooth Agenesis:

38
Bone, Heart

Publications for Tooth Agenesis

Articles related to Tooth Agenesis:

(show top 50) (show all 165)
# Title Authors Year
1
Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development. ( 29445242 )
2018
2
Rare and Common Variants Conferring Risk of Tooth Agenesis. ( 29364747 )
2018
3
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. ( 29436111 )
2018
4
Nonsyndromic cleft lip and palate, gastric cancer and tooth agenesis. ( 29274157 )
2018
5
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
6
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
7
Nonsyndromic oligodontia : Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation? ( 28204848 )
2017
8
Tooth agenesis code (TAC) in complete unilateral and bilateral cleft lip and palate patients. ( 29243181 )
2017
9
Dental anomaly patterns associated with tooth agenesis. ( 28121195 )
2017
10
Permanent tooth agenesis in individuals with non-syndromic Robin sequence: a systematic review and meta-analysis. ( 29027749 )
2017
11
Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing. ( 28265457 )
2017
12
WNT10A variants isolated from Japanese patients with congenital tooth agenesis. ( 29367877 )
2017
13
GREM2 nucleotide variants and the risk of tooth agenesis. ( 28992378 )
2017
14
Association between Tooth Agenesis and Skeletal Malocclusions. ( 28791079 )
2017
15
Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. ( 29023497 )
2017
16
Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: A review. ( 28759178 )
2017
17
Prevalence of delayed tooth development and its relation to tooth agenesis in Korean children. ( 27810381 )
2017
18
Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype. ( 28910570 )
2017
19
Patterns of non-syndromic permanent tooth agenesis in a large orthodontic population. ( 28288390 )
2017
20
Establishment of a congenital tooth agenesis related gene MSX1 knockout human embryonic stem cell lines by CRISPR-Cas9 technology. ( 29034883 )
2017
21
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
22
Association between EDAR Polymorphisms and Non-Syndromic Tooth Agenesis in the Chinese Han Population. ( 28808699 )
2017
23
PAX9 gene mutations and tooth agenesis: A review. ( 28155232 )
2017
24
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. ( 28813618 )
2017
25
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. ( 26963285 )
2016
26
Prevalence and patterns of permanent tooth agenesis in individuals with Down syndrome: a meta-analysis. ( 27311636 )
2016
27
Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns. ( 27933446 )
2016
28
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis. ( 27144394 )
2016
29
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. ( 27665865 )
2016
30
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. ( 27510842 )
2016
31
Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis. ( 27365112 )
2016
32
Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis. ( 27895972 )
2016
33
DNA methylation is critical for tooth agenesis: implications for sporadic non-syndromic anodontia and hypodontia. ( 26759063 )
2016
34
Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis. ( 27362534 )
2016
35
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis. ( 27090353 )
2016
36
Craniofacial shape differs in patients with tooth agenesis: geometric morphometric analysis. ( 27464525 )
2016
37
Tooth agenesis and orofacial clefting: genetic brothers in arms? ( 27699475 )
2016
38
Clinical and Radiographic Evaluation of a Small-Diameter Dental Implant Used for the Restoration of Patients with Permanent Tooth Agenesis (Hypodontia) in the Maxillary Lateral Incisor and Mandibular Incisor Regions: A 36-Month Follow-Up. ( 26929953 )
2016
39
A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis. ( 26833927 )
2016
40
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family. ( 26030286 )
2015
41
Association of BMP4 polymorphisms with isolated tooth agenesis in a Chinese Han population: a case-control study. ( 26166641 )
2015
42
Retrospective Study of Association between Displacement of Maxillary Canine and Tooth Agenesis. ( 26551375 )
2015
43
Permanent Tooth Agenesis and Maxillary Hypoplasia in Patients with Unilateral Cleft Lip and Palate. ( 26505722 )
2015
44
Prevalence of Tooth Agenesis in Adolescent Chinese Populations with or without Orthodontics. ( 25815384 )
2015
45
Prevalence and distribution of dental anomalies: A comparison between maxillary and mandibular tooth agenesis. ( 26522039 )
2015
46
Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population. ( 26707046 )
2015
47
Prevalence and patterns of tooth agenesis in Angle Class II Division 2 malocclusion in Japan. ( 26124035 )
2015
48
Is there a link between ovarian cancer and tooth agenesis? ( 24631698 )
2014
49
Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis. ( 25203534 )
2014
50
Colorectal cancer and self-reported tooth agenesis. ( 24607150 )
2014

Variations for Tooth Agenesis

ClinVar genetic disease variations for Tooth Agenesis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP6 NM_002336.2(LRP6): c.4593delC (p.Cys1532Alafs) deletion Pathogenic rs869320635 GRCh37 Chromosome 12, 12274309: 12274309
2 LRP6 NM_002336.2(LRP6): c.3398-2A> C single nucleotide variant Pathogenic rs869320636 GRCh37 Chromosome 12, 12291470: 12291470

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 BMP4 CDH1 FGFR1 TGFA TGFB3 WNT10A
2
Show member pathways
12.41 AXIN2 LRP6 WNT10A WNT10B
3
Show member pathways
12.37 AXIN2 BMP4 FGFR1 PAX9
4
Show member pathways
12.31 BMP4 TGFB3 WNT10A WNT10B
5
Show member pathways
12.29 AXIN2 FGFR1 LRP6 WNT10A WNT10B
6 12.28 CDH1 LRP6 WNT10A WNT10B
7 12.26 MSX1 TGFB3 WNT10A WNT10B
8
Show member pathways
12.22 AXIN2 CDH1 FGFR1 LRP6 TGFA TGFB3
9
Show member pathways
12.17 AXIN2 BMP4 WNT10A WNT10B
10 12.06 AXIN2 BMP4 LRP6 MSX1 PAX9 TGFB3
11 12 AXIN2 BMP4 CDH1 FGFR1 LRP6 TGFA
12
Show member pathways
11.99 AXIN2 LRP6 WNT10A WNT10B
13 11.95 AXIN2 CDH1 LRP6 TGFB3 WNT10A WNT10B
14 11.94 AXIN2 BMP4 FGFR1 WNT10A WNT10B
15 11.82 AXIN2 BMP4 CDH1 TGFB3 WNT10A WNT10B
16 11.77 AXIN2 BMP4 CDH1 FGFR1 MSX1
17 11.72 BMP4 TGFB3 WNT10B
18 11.66 FGFR1 TGFA TGFB3
19
Show member pathways
11.61 EDA EDAR EDARADD
20 10.88 BMP4 CDH1 FGFR1 TGFA TGFB3
21 10.38 IRF6 TGFB3

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 9.32 BMP4 CDH1 EDA FGFR1 GREM2 LRP6

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.91 AXIN2 LRP6 WNT10A WNT10B
2 wound healing GO:0042060 9.82 DSP TGFA TGFB3
3 canonical Wnt signaling pathway GO:0060070 9.8 LRP6 WNT10A WNT10B
4 positive regulation of canonical Wnt signaling pathway GO:0090263 9.78 AXIN2 EDA LRP6 WNT10B
5 cell fate commitment GO:0045165 9.76 BMP4 WNT10A WNT10B
6 embryonic limb morphogenesis GO:0030326 9.75 BMP4 FGFR1 MSX1
7 BMP signaling pathway GO:0030509 9.71 BMP4 GREM2 MSX1 TGFB3
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.7 AXIN2 BMP4 TGFB3
9 multicellular organism development GO:0007275 9.7 AXIN2 BMP4 EDA EDAR EDARADD GREM2
10 chondrocyte differentiation GO:0002062 9.69 BMP4 FGFR1 WNT10B
11 palate development GO:0060021 9.67 LRP6 MSX1 SUMO1 TGFB3
12 middle ear morphogenesis GO:0042474 9.65 FGFR1 MSX1
13 positive regulation of ossification GO:0045778 9.65 BMP4 WNT10B
14 positive regulation of SMAD protein import into nucleus GO:0060391 9.64 BMP4 TGFB3
15 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.63 BMP4 MSX1
16 positive regulation of bone mineralization GO:0030501 9.63 BMP4 TGFB3 WNT10B
17 organ induction GO:0001759 9.62 BMP4 FGFR1
18 salivary gland morphogenesis GO:0007435 9.62 FGFR1 TGFB3
19 skin development GO:0043588 9.62 DSP EDA IRF6 WNT10A
20 secondary heart field specification GO:0003139 9.61 AXIN2 BMP4
21 pituitary gland development GO:0021983 9.61 BMP4 CDH1 MSX1
22 neural crest cell differentiation GO:0014033 9.57 LRP6 WNT10A
23 BMP signaling pathway involved in heart development GO:0061312 9.56 BMP4 MSX1
24 face morphogenesis GO:0060325 9.56 LRP6 MSX1 PAX9 TGFB3
25 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.55 BMP4 WNT10A
26 odontogenesis of dentin-containing tooth GO:0042475 9.55 BMP4 EDA EDAR LRP6 MSX1
27 salivary gland cavitation GO:0060662 9.54 EDA EDAR
28 regulation of odontogenesis GO:0042481 9.49 MSX1 PAX9
29 odontogenesis GO:0042476 9.1 AXIN2 BMP4 MSX1 PAX9 TGFB3 WNT10A
30 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 BMP4 IRF6 LRP6 MSX1 PAX9 TGFB3
31 positive regulation of transcription, DNA-templated GO:0045893 10.05 BMP4 CDH1 IRF6 LRP6 TGFB3
32 negative regulation of cell proliferation GO:0008285 10 AXIN2 BMP4 IRF6 MSX1 TGFB3

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 for Tooth Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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