DM-EBS
MCID: EPD028
MIFTS: 46

Epidermolysis Bullosa Simplex, Dowling-Meara Type (DM-EBS)

Categories: Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Dowling-Meara Type

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Dowling-Meara Type:

Name: Epidermolysis Bullosa Simplex, Dowling-Meara Type 57 53 59 75 13 55
Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type 57 53 75
Epidermolysis Bullosa Herpetiformis, Dowling-Meara 29 6 40
Epidermolysis Bullosa Simplex, Generalized Severe 57 59 75
Epidermolysis Bullosa Simplex, Herpetiformis 12 53 59
Epidermolysis Bullosa Simplex Dowling-Meara Type 12 15
Ebs-Dm 53 75
Ebsdm 57 12
Epidermolysis Bullosa Herpetiformis Dowling-Meara Type 12
Epidermolysis Bullosa Herpetiformis Dowling-Meara 73
Generalized Severe Epidermolysis Bullosa Simplex 12
Dowling-Meara Type Epidermolysis Bullosa Simplex 53
Ebs, Generalized Severe 59
Ebs-Gen Sev 12
Dm-Ebs 75

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex, generalized severe
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early infancy
infant death may occur secondary to sepsis
disease exacerbation during summer due to heat
some patients show improvement during summer or with fever
improvement with age


HPO:

32
epidermolysis bullosa simplex, dowling-meara type:
Onset and clinical course neonatal onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Epidermolysis Bullosa Simplex, Dowling-Meara Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79396Disease definitionEpidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.EpidemiologyWorldwide prevalence is unknown but reported prevalence in Scotland is 1/1,700,000.Clinical descriptionOnset is usually at birth with large, frequently hemorrhagic blisters. After the neonatal period, the lesions take the typical herpetiform (or herpes-like) clustering with central healing pattern. Blister formation gradually reduces starting from late childhood. By childhood, most patients begin to develop confluent thickening and hyperkeratosis (keratoderma) of the palms and soles which may partially resolve in some patients during mid- to late-adulthood. Along with blisters, skin findings commonly include mild atrophic scarring and post-inflammatory pigmentation, nail shedding and nail dystrophy, as well as occasional milia formation. Lesions may improve in some patients in case of fever, unlike other forms of EB in which warmer weather exacerbates disease activity. The reason for this is unknown. Extracutaneous complications can occur including oral cavity blistering, constipation and, rarely, tracheolaryngeal compromise.EtiologyEBS-DM is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively.Genetic counselingTransmission is autosomal dominant and sporadic cases are frequent.PrognosisEBS-DM is frequently associated with marked morbidity in infancy and early childhood and, in rare cases, may result in death during early infancy. Patients also have a markedly increased risk of basal cell carcinoma by mid-adulthood (cumulative risk of 44% by age 55).Visit the Orphanet disease page for more resources.

MalaCards based summary : Epidermolysis Bullosa Simplex, Dowling-Meara Type, also known as epidermolysis bullosa herpetiformis, dowling-meara type, is related to epidermolysis bullosa simplex and epidermolysis bullosa simplex, generalized, and has symptoms including nail shedding An important gene associated with Epidermolysis Bullosa Simplex, Dowling-Meara Type is KRT14 (Keratin 14), and among its related pathways/superpathways are Keratinization and Glucocorticoid receptor regulatory network. The drugs Erythromycin and Erythromycin stearate have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and endothelial, and related phenotypes are failure to thrive and constipation

Disease Ontology : 12 An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has material basis in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.

OMIM : 57 Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (131900) and the milder and localized Weber-Cockayne type (131800) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See 601001 for a rare autosomal recessive form caused by mutation in the KRT14 gene. (131760)

UniProtKB/Swiss-Prot : 75 Epidermolysis bullosa simplex, Dowling-Meara type: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.

Related Diseases for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Diseases related to Epidermolysis Bullosa Simplex, Dowling-Meara Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex 31.4 KRT5 KRT14 KRT10
2 epidermolysis bullosa simplex, generalized 31.1 KRT5 KRT14
3 epidermolysis bullosa simplex, ogna type 11.3
4 epidermolysis bullosa simplex with migratory circinate erythema 11.3
5 epidermolysis bullosa 10.9
6 pyloric atresia 10.5
7 loose anagen hair syndrome 10.5
8 benign breast adenomyoepithelioma 10.2 KRT5 KRT14
9 breast adenomyoepithelioma 10.2 KRT5 KRT14
10 lichen planopilaris 10.2 KRT5 KRT14
11 epidermolysis bullosa simplex, autosomal recessive 1 10.2 KRT5 KRT14
12 apocrine sweat gland neoplasm 10.2 KRT5 KRT14
13 epidermolysis bullosa simplex, localized 10.2 KRT5 KRT14
14 odontoma 10.2 KRT5 KRT14
15 cervical clear cell adenocarcinoma 10.2 KRT5 KRT14
16 breast myoepithelial neoplasm 10.2 KRT5 KRT14
17 vesiculobullous skin disease 10.2 KRT5 KRT14
18 lipoadenoma 10.1 KRT5 KRT14
19 basal cell carcinoma, infundibulocystic 10.1 KRT14 KRT10
20 thoracic benign neoplasm 10.1 KRT5 KRT14
21 breast benign neoplasm 10.1 KRT5 KRT14
22 pregnancy adenoma 10.1 KRT5 KRT14
23 striate palmoplantar keratoderma 10.1 KRT14 KRT10
24 lipid-rich carcinoma 10.1 KRT5 KRT14
25 sweat gland disease 10.1 KRT5 KRT14
26 tonsil cancer 10.1 KRT5 KRT14
27 malignant biphasic mesothelioma 10.1 KRT5 KRT10
28 pre-malignant neoplasm 10.1 KRT5 KRT14
29 gastric squamous cell carcinoma 10.1 KRT5 KRT10
30 hidradenitis 10.1 KRT14 KRT10
31 eccrine sweat gland neoplasm 10.1 KRT5 KRT10
32 oropharynx cancer 10.1 KRT5 KRT14
33 mucinoses 10.1 KRT14 CXCL9
34 hidradenitis suppurativa 10.1 KRT14 KRT10
35 pinguecula 10.1 KRT14 KRT10
36 in situ carcinoma 10.1 KRT5 KRT14
37 white sponge nevus 1 10.1 KRT14 KRT10
38 spindle cell carcinoma 10.1 KRT5 KRT14
39 palmoplantar keratoderma, epidermolytic 10.1 KRT14 KRT10
40 skin benign neoplasm 10.1 KRT5 KRT14
41 sweat gland cancer 10.1 KRT14 KRT5
42 keratosis, seborrheic 10.1 KRT5 KRT10
43 dowling-degos disease 10.1 KRT5 KRT14
44 epidermodysplasia verruciformis 10.0 KRT10 KRT14
45 ductal carcinoma in situ 10.0 KRT5 KRT14
46 endotheliitis 10.0 CXCL9 CXCL10
47 sydenham chorea 10.0 CXCL9 CXCL10
48 opsoclonus-myoclonus syndrome 10.0 CXCL9 CXCL10
49 large cell acanthoma 10.0 KRT5 KRT14 KRT10
50 breast squamous cell carcinoma 10.0 KRT5 KRT14 KRT10

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:



Diseases related to Epidermolysis Bullosa Simplex, Dowling-Meara Type

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
milia
blistering, generalized, recurrent, severe (occurs after mild physical trauma)
blistering occurs in clusters ('herpetiform', 'arcuate')
blistering of hands, elbows, feet, knees
hemorrhagic blisters
more
Skin Nails Hair Nails:
dystrophic nails
nail shedding

Skin Nails Hair Skin Electron Microscopy:
cleavage within basal keratinocytes
clumping of keratin filaments in basal epidermal cells

Growth Other:
growth retardation

Head And Neck Mouth:
oral blistering


Clinical features from OMIM:

131760

Human phenotypes related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
2 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
3 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
4 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
5 abnormal blistering of the skin 59 32 Very frequent (99-80%) HP:0008066
6 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
7 recurrent skin infections 59 32 frequent (33%) Frequent (79-30%) HP:0001581
8 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
9 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
10 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953
11 hypopigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001010
12 oral mucosal blisters 59 32 occasional (7.5%) Occasional (29-5%) HP:0200097
13 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
14 atrophic scars 59 32 occasional (7.5%) Frequent (79-30%) HP:0001075
15 growth delay 32 HP:0001510
16 nail dysplasia 32 HP:0002164
17 palmoplantar hyperkeratosis 32 HP:0000972

UMLS symptoms related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:


nail shedding

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Drugs for Epidermolysis Bullosa Simplex, Dowling-Meara Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
2 Erythromycin stearate Phase 3
3 Gastrointestinal Agents Phase 3
4 Anti-Infective Agents Phase 3
5 Anti-Bacterial Agents Phase 3
6 Erythromycin Estolate Phase 3
7 Erythromycin Ethylsuccinate Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
2 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream

Search NIH Clinical Center for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Genetic Tests for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Genetic tests related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Herpetiformis, Dowling-Meara 29 KRT14 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex, Dowling-Meara Type

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

41
Skin, Breast, Endothelial, Tonsil

Publications for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Articles related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

# Title Authors Year
1
Epidermolysis bullosa simplex, Dowling-Meara type with eruptive nevi. ( 22909366 )
2012
2
Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type. ( 22890742 )
2012
3
Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities. ( 10957900 )
2000
4
Epidermolysis bullosa simplex, Dowling-Meara type. A report of two cases with different types of tonofilament clumping. ( 8427826 )
1993
5
Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. ( 1721080 )
1991
6
Severe infantile epidermolysis bullosa simplex. Dowling-Meara type. ( 3511860 )
1986

Variations for Epidermolysis Bullosa Simplex, Dowling-Meara Type

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex, Dowling-Meara Type:

75 (show all 27)
# Symbol AA change Variation ID SNP ID
1 KRT14 p.Arg125Cys VAR_003837 rs60399023
2 KRT14 p.Arg125His VAR_003838 rs58330629
3 KRT14 p.Leu419Gln VAR_003845 rs57364972
4 KRT14 p.Met119Thr VAR_010440 rs28928893
5 KRT14 p.Gln120Arg VAR_010441 rs60993843
6 KRT14 p.Leu122Phe VAR_010442 rs59110575
7 KRT14 p.Asn123Ser VAR_010443 rs60171927
8 KRT14 p.Arg125Ser VAR_010444
9 KRT14 p.Tyr129Asp VAR_010445 rs60470268
10 KRT14 p.Asn123Lys VAR_023720 rs3826549
11 KRT14 p.Arg125Gly VAR_023721 rs60399023
12 KRT14 p.Leu130Pro VAR_023722 rs57522245
13 KRT14 p.Arg417Pro VAR_027721 rs61085704
14 KRT14 p.Arg416Pro VAR_031639 rs60622724
15 KRT5 p.Asn193Lys VAR_003873 rs60586163
16 KRT5 p.Glu475Gly VAR_003877 rs61348633
17 KRT5 p.Leu175Phe VAR_010456 rs57890479
18 KRT5 p.Asn176Ser VAR_010457 rs59092197
19 KRT5 p.Phe179Ser VAR_010458 rs57781042
20 KRT5 p.Ser181Pro VAR_010459 rs60715293
21 KRT5 p.Ile467Thr VAR_010466 rs60271599
22 KRT5 p.Glu477Lys VAR_010467 rs59190510
23 KRT5 p.Glu475Lys VAR_023728 rs57155193
24 KRT5 p.Glu168Lys VAR_027722 rs58619430
25 KRT5 p.Arg169Pro VAR_027723 rs60720877
26 KRT5 p.Thr469Pro VAR_027726 rs60596287
27 KRT5 p.Arg165Ser VAR_071630 rs267607456

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Dowling-Meara Type:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT14 NM_000526.4(KRT14): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs60399023 GRCh37 Chromosome 17, 39742714: 39742714
2 KRT14 NM_000526.4(KRT14): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs60399023 GRCh38 Chromosome 17, 41586462: 41586462
3 KRT14 NM_000526.4(KRT14): c.374G> A (p.Arg125His) single nucleotide variant Pathogenic rs58330629 GRCh37 Chromosome 17, 39742713: 39742713
4 KRT14 NM_000526.4(KRT14): c.374G> A (p.Arg125His) single nucleotide variant Pathogenic rs58330629 GRCh38 Chromosome 17, 41586461: 41586461
5 KRT14 NM_000526.4(KRT14): c.356T> C (p.Met119Thr) single nucleotide variant Pathogenic rs28928893 GRCh37 Chromosome 17, 39742731: 39742731
6 KRT14 NM_000526.4(KRT14): c.356T> C (p.Met119Thr) single nucleotide variant Pathogenic rs28928893 GRCh38 Chromosome 17, 41586479: 41586479
7 KRT14 NM_000526.4(KRT14): c.1243T> C (p.Tyr415His) single nucleotide variant Pathogenic rs58380626 GRCh37 Chromosome 17, 39739518: 39739518
8 KRT14 NM_000526.4(KRT14): c.1243T> C (p.Tyr415His) single nucleotide variant Pathogenic rs58380626 GRCh38 Chromosome 17, 41583266: 41583266
9 KRT14 NM_000526.4(KRT14): c.1256T> A (p.Leu419Gln) single nucleotide variant Pathogenic rs57364972 GRCh37 Chromosome 17, 39739505: 39739505
10 KRT14 NM_000526.4(KRT14): c.1256T> A (p.Leu419Gln) single nucleotide variant Pathogenic rs57364972 GRCh38 Chromosome 17, 41583253: 41583253
11 KRT14 NM_000526.4(KRT14): c.1264G> A (p.Glu422Lys) single nucleotide variant Pathogenic rs58762773 GRCh37 Chromosome 17, 39739497: 39739497
12 KRT14 NM_000526.4(KRT14): c.1264G> A (p.Glu422Lys) single nucleotide variant Pathogenic rs58762773 GRCh38 Chromosome 17, 41583245: 41583245
13 KRT14 NM_000526.4(KRT14): c.368A> G (p.Asn123Ser) single nucleotide variant Pathogenic rs60171927 GRCh37 Chromosome 17, 39742719: 39742719
14 KRT14 NM_000526.4(KRT14): c.368A> G (p.Asn123Ser) single nucleotide variant Pathogenic rs60171927 GRCh38 Chromosome 17, 41586467: 41586467
15 KRT5 NM_000424.3(KRT5): c.1424A> G (p.Glu475Gly) single nucleotide variant Pathogenic rs61348633 GRCh37 Chromosome 12, 52910436: 52910436
16 KRT5 NM_000424.3(KRT5): c.1424A> G (p.Glu475Gly) single nucleotide variant Pathogenic rs61348633 GRCh38 Chromosome 12, 52516652: 52516652
17 KRT5 NM_000424.3(KRT5): c.523C> T (p.Leu175Phe) single nucleotide variant Pathogenic rs57890479 GRCh37 Chromosome 12, 52913558: 52913558
18 KRT5 NM_000424.3(KRT5): c.523C> T (p.Leu175Phe) single nucleotide variant Pathogenic rs57890479 GRCh38 Chromosome 12, 52519774: 52519774
19 KRT5 KRT5, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
20 KRT5 NM_000424.3(KRT5): c.541T> C (p.Ser181Pro) single nucleotide variant Pathogenic rs60715293 GRCh37 Chromosome 12, 52913540: 52913540
21 KRT5 NM_000424.3(KRT5): c.541T> C (p.Ser181Pro) single nucleotide variant Pathogenic rs60715293 GRCh38 Chromosome 12, 52519756: 52519756
22 KRT5 NM_000424.3(KRT5): c.1429G> A (p.Glu477Lys) single nucleotide variant Pathogenic rs59190510 GRCh37 Chromosome 12, 52910431: 52910431
23 KRT5 NM_000424.3(KRT5): c.1429G> A (p.Glu477Lys) single nucleotide variant Pathogenic rs59190510 GRCh38 Chromosome 12, 52516647: 52516647

Expression for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Dowling-Meara Type.

Pathways for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Pathways related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 KRT10 KRT14 KRT5
2 11.24 KRT14 KRT5
3 11.11 CXCL10 CXCL9
4 10.52 CXCL10 CXCL9
5 10.15 CXCL10 CXCL9

GO Terms for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Cellular components related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.8 KRT10 KRT14 KRT5

Biological processes related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.65 CXCL10 CXCL9 PIK3CD
2 keratinization GO:0031424 9.58 KRT10 KRT14 KRT5
3 chemokine-mediated signaling pathway GO:0070098 9.51 CXCL10 CXCL9
4 chemotaxis GO:0006935 9.5 CXCL10 CXCL9 PIK3CD
5 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.49 CXCL10 CXCL9
6 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.46 CXCL10 CXCL9
7 leukocyte chemotaxis GO:0030595 9.43 CXCL10 CXCL9
8 positive regulation of cAMP-mediated signaling GO:0043950 9.37 CXCL10 CXCL9
9 hemidesmosome assembly GO:0031581 9.26 KRT14 KRT5
10 T cell chemotaxis GO:0010818 9.16 CXCL10 PIK3CD
11 cornification GO:0070268 9.13 KRT10 KRT14 KRT5
12 neutrophil chemotaxis GO:0030593 8.8 CXCL10 CXCL9 PIK3CD

Molecular functions related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemokine activity GO:0008009 8.96 CXCL10 CXCL9
2 CXCR3 chemokine receptor binding GO:0048248 8.62 CXCL10 CXCL9

Sources for Epidermolysis Bullosa Simplex, Dowling-Meara Type

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74 UMLS via Orphanet
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