EV
MCID: EPD001
MIFTS: 50

Epidermodysplasia Verruciformis (EV) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Blood diseases

Aliases & Classifications for Epidermodysplasia Verruciformis

Aliases & Descriptions for Epidermodysplasia Verruciformis:

Name: Epidermodysplasia Verruciformis 54 12 50 24 56 66 29 13 52 42 14 69
Lutz-Lewandowsky Epidermodysplasia Verruciformis 50 56
Lewandowsky-Lutz Syndrome 50 56
Ev 66

Characteristics:

Orphanet epidemiological data:

56
epidermodysplasia verruciformis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

OMIM 54 226400
Disease Ontology 12 DOID:13777
MeSH 42 D004819
SNOMED-CT 64 19138001
Orphanet 56 ORPHA302
UMLS via Orphanet 70 C0014522
MESH via Orphanet 43 D004819
ICD10 via Orphanet 34 B07
MedGen 40 C0014522
UMLS 69 C0014522

Summaries for Epidermodysplasia Verruciformis

OMIM : 54 Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer (Ramoz et al.,... (226400) more...

MalaCards based summary : Epidermodysplasia Verruciformis, also known as lutz-lewandowsky epidermodysplasia verruciformis, is related to squamous cell carcinoma and t-cell immunodeficiency with epidermodysplasia verruciformis, and has symptoms including lesions on the body, hypopigmented skin patches and multiple cafe-au-lait spots. An important gene associated with Epidermodysplasia Verruciformis is TMC8 (Transmembrane Channel Like 8), and among its related pathways/superpathways is Dendritic Cells Developmental Lineage Pathway. The drugs Ethanol and Glycolic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and testes.

Disease Ontology : 12 An autosomal recessive disease that results_in skin squamous cell carcinoma located in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has symptom lesions on the body.

UniProtKB/Swiss-Prot : 66 Epidermodysplasia verruciformis: Rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.

Wikipedia : 71 Epidermodysplasia verruciformis (EV), also known as tree man illness, is an extremely rare autosomal... more...

Related Diseases for Epidermodysplasia Verruciformis

Diseases related to Epidermodysplasia Verruciformis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
id Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 31.0 KRT1 KRT10
2 t-cell immunodeficiency with epidermodysplasia verruciformis 12.1
3 papilloma 10.3
4 rem sleep behavior disorder 10.3 TMC6 TMC8
5 keratosis 10.3
6 intestinal botulism 10.2 TMC6 TMC8
7 lymphoma 10.2
8 bowen's disease 10.2
9 mucositis 10.2
10 bradyopsia 10.2 KRT1 KRT10
11 erdheim-chester disease 10.2 KRT1 KRT10
12 palmoplantar keratoderma, nonepidermolytic 10.1 KRT1 KRT10
13 ciliary dyskinesia, primary, 1, with or without situs inversus 10.1 KRT1 KRT10
14 merkel cell carcinoma 10.1
15 melanoma 10.1
16 lupus erythematosus 10.1
17 systemic lupus erythematosus 10.1
18 psoriasis 10.1
19 insulinoma 10.1 FLG KRT10
20 subglottis verrucous carcinoma 10.1 KRT1 KRT10
21 mixed cell adenoma 10.1 KRT1 KRT10
22 leprosy 10.1
23 basaloid squamous cell carcinoma 10.1 CDH1 KRT10
24 pneumonia caused by pseudomonas aeruginosa infection 10.0 FLG KRT1
25 brachydactyly small stature face anomalies 10.0 FLG KRT10
26 pyridoxal 5'-phosphate-dependent epilepsy 10.0 IL10 TNF
27 tubular renal disease-cardiomyopathy syndrome 10.0 IL10 TNF
28 rhabdomyosarcoma 10.0
29 common variable immunodeficiency 10.0
30 hepatitis 10.0
31 acanthoma 10.0
32 hepatitis b 10.0
33 leukemia 10.0
34 cervicitis 10.0
35 tuberculoid leprosy 10.0
36 molluscum contagiosum 10.0
37 lagophthalmos 10.0 IL10 TNF
38 multiple vertebral anomalies unusual facies 10.0 IL10 TNF
39 conidiobolomycosis 10.0 IL10 TNF
40 endosalpingiosis 9.9 IL10 TNF
41 episodic angioedema with eosinophilia 9.9 FLG KRT1 KRT10
42 thymus mucoepidermoid carcinoma 9.9 FLG KRT1 KRT10
43 ichthyosis histrix, curth-macklin type 9.9 FLG KRT1 KRT10
44 intraocular retinoblastoma 9.9 FLG KRT1 KRT10
45 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 9.9 IL10 TNF
46 vascular dementia 9.9 FLG KRT10 TNF
47 mast-cell leukemia 9.9 FLG KRT10 TNF
48 richter's syndrome 9.9 FLG KRT1 KRT10
49 steroid inherited metabolic disorder 9.9 FLG KRT1 KRT10
50 autonomic nervous system neoplasm 9.9 FLG KRT1 KRT10

Graphical network of the top 20 diseases related to Epidermodysplasia Verruciformis:



Diseases related to Epidermodysplasia Verruciformis

Symptoms & Phenotypes for Epidermodysplasia Verruciformis

Symptoms by clinical synopsis from OMIM:

226400

Clinical features from OMIM:

226400

Symptoms:

12
  • lesions on the body

Human phenotypes related to Epidermodysplasia Verruciformis:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 56 32 Frequent (79-30%) HP:0001053
2 multiple cafe-au-lait spots 56 32 Frequent (79-30%) HP:0007565
3 seborrheic dermatitis 56 32 Very frequent (99-80%) HP:0001051
4 papule 56 32 Very frequent (99-80%) HP:0200034
5 recurrent skin infections 56 32 Very frequent (99-80%) HP:0001581
6 verrucae 56 32 Very frequent (99-80%) HP:0200043
7 squamous cell carcinoma 56 32 Occasional (29-5%) HP:0002860
8 pustule 56 32 Very frequent (99-80%) HP:0200039
9 skin plaque 56 32 Very frequent (99-80%) HP:0200035
10 abnormality of metabolism/homeostasis 32 HP:0001939
11 teleangiectasia of the skin 56 Occasional (29-5%)
12 abnormality of the immune system 56 Very frequent (99-80%)
13 basal cell carcinoma 32 HP:0002671
14 telangiectasia of the skin 32 HP:0100585

Drugs & Therapeutics for Epidermodysplasia Verruciformis

Drugs for Epidermodysplasia Verruciformis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702
2
Glycolic acid Experimental 79-14-1 757
3 Dermatologic Agents
4 Keratolytic Agents
5 Anti-Infective Agents
6 Anti-Infective Agents, Local
7 Central Nervous System Depressants
8 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Acquired Epidermodysplasia Verruciformis (EV) Syndrome in HIV-infected Pediatric Patients Completed NCT01289171
2 Evaluation of the Effectiveness of an Alcohol Based Hand Gel for the Reduction of Warts on the Hands Completed NCT00973856

Search NIH Clinical Center for Epidermodysplasia Verruciformis

Cochrane evidence based reviews: epidermodysplasia verruciformis

Genetic Tests for Epidermodysplasia Verruciformis

Genetic tests related to Epidermodysplasia Verruciformis:

id Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis 29 24 TMC6 TMC8

Anatomical Context for Epidermodysplasia Verruciformis

MalaCards organs/tissues related to Epidermodysplasia Verruciformis:

39
Skin, T Cells, Testes, Eye, Myeloid, Brain

The Foundational Model of Anatomy Ontology organs/tissues related to Epidermodysplasia Verruciformis:

18
Skin

Publications for Epidermodysplasia Verruciformis

Articles related to Epidermodysplasia Verruciformis:

(show top 50) (show all 394)
id Title Authors Year
1
Eccrine Syringofibroadenoma in Association With Acquired Epidermodysplasia Verruciformis. ( 28346303 )
2017
2
Perianal Epidermodysplasia Verruciformis Associated With Human Papillomavirus 5 After a Renal Transplant. ( 28504981 )
2017
3
Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90A years of debate. ( 28196644 )
2017
4
Comparative study of p16 protein expression in squamous cell carcinomas from patients with epidermodysplasia verruciformis and patients without the disease. ( 28439661 )
2017
5
Acquired epidermodysplasia verruciformis associated with human papillomavirus type 47 in a HIV-infected patient. ( 26778636 )
2016
6
Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis. ( 27996151 )
2016
7
The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients. ( 27279814 )
2016
8
Epidermodysplasia verruciformis-related human papillomavirus 76 was isolated from plantar warts of a healthy individual. ( 26775884 )
2016
9
Identification of the LCK mutation in an atypical epidermodysplasia verruciformis family with T cell defects and virus-induced squamous cell carcinoma. ( 27087313 )
2016
10
Sebaceous cell carcinoma developing in epidermodysplasia verruciformis. ( 27279310 )
2016
11
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. ( 27568080 )
2016
12
Sebaceous cell carcinoma developing in epidermodysplasia verruciformis. ( 26858060 )
2016
13
Acrokeratosis Verruciformis of Hopf Clinically Mimicking Epidermodysplasia Verruciformis. ( 27057054 )
2016
14
Epidermodysplasia verruciformis and the risk for malignancy. ( 27874888 )
2016
15
Treatment of Imiquimod Resistant Epidermodysplasia Verruciformis With Ingenol Mebutate. ( 26954321 )
2016
16
Acquired Epidermodysplasia Verruciformis Associated with Human Papilloma Virus Type 14 in a Small Bowel Transplanted Child--A Case Report. ( 26646304 )
2016
17
Cornoid Lamella-Like Structures in HIV-Associated Epidermodysplasia Verruciformis: A Unique Histopathologic Finding. ( 26588337 )
2015
18
Deleterious Effect of Radiation Therapy on Epidermodysplasia Verruciformis Patients. ( 26156649 )
2015
19
Adult T-cell Lymphoma Complicated with Epidermodysplasia Verruciformis-like Eruptions. ( 26724886 )
2015
20
Acquired epidermodysplasia verruciformis, a new opportunistic infection related to bendamustine. ( 25677268 )
2015
21
Remission of an epidermodysplasia verruciformis-like eruption in an HIV-positive man long after immune restoration. ( 26243233 )
2015
22
Possible association between actinic keratosis and the rs7208422 (c.917Aa89T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis. ( 25495765 )
2015
23
Bilateral recurrent ocular surface squamous cell cancer associated with epidermodysplasia verruciformis. ( 25636630 )
2015
24
Epidermodysplasia verruciformis: successful treatment with squaric acid dibutylester. ( 26367749 )
2015
25
Genetic variations in the epidermodysplasia verruciformis (EVER/TMC) genes, cutaneous human papillomavirus infection and squamous cell carcinoma of the skin. ( 26126409 )
2015
26
Acquired epidermodysplasia verruciformis in an HIV-positive patient. ( 26516132 )
2015
27
Conjunctival squamous cell carcinoma with intraocular invasion after radiotherapy in epidermodysplasia verruciformis. ( 24767238 )
2014
28
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. ( 25073507 )
2014
29
Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report. ( 25048734 )
2014
30
Characterization of skin lesions induced by skin-tropic I+- and I^-papillomaviruses in a patient with epidermodysplasia verruciformis. ( 24902472 )
2014
31
Acquired epidermodysplasia verruciformis in an HIV-infected patient. ( 24581031 )
2014
32
Efficacy of oral zinc therapy in epidermodysplasia verruciformis with squamous cell carcinoma. ( 24616858 )
2014
33
The transmembrane channel-like protein family and human papillomaviruses: Insights into epidermodysplasia verruciformis and progression to squamous cell carcinoma. ( 24800179 )
2014
34
Acquired epidermodysplasia verruciformis in a renal transplant recipient--case report. ( 24626660 )
2014
35
Expression of the epidermodysplasia verruciformis-associated genes EVER1 and EVER2 is activated by exogenous DNA and inhibited by LMP1 oncoprotein from Epstein-Barr virus. ( 25378492 )
2014
36
Brazilian waxing and human papillomavirus: a case of acquired epidermodysplasia verruciformis. ( 25183723 )
2014
37
Epidermodysplasia verruciformis. ( 24643182 )
2014
38
Merkel Cell Polyomavirus-positive Merkel Cell Carcinoma in a Patient with Epidermodysplasia Verruciformis. ( 24710670 )
2014
39
Palliative effect of capecitabine and cetuximab for refractory metastatic squamous cell carcinoma of the perineum in epidermodysplasia verruciformis. ( 24720087 )
2014
40
Epidermodysplasia Verruciformis-like Skin Eruption in an HIV-positive Patient. ( 25589883 )
2014
41
Spontaneous regression of Merkel cell carcinoma developed in a patient with epidermodysplasia verruciformis. ( 24985741 )
2014
42
Human immunodeficiency virus (HIV)-associated epidermodysplasia verruciformis eradicated after interferon-I+ and ribavirin treatment. ( 24527965 )
2014
43
Acquired epidermodysplasia verruciformis in a child with the human immunodeficiency virus. ( 23758597 )
2013
44
Epidermodysplasia verruciformis associated with HPV 10. ( 24021362 )
2013
45
Multiple Low-Grade Sarcomas of Fibroblastic Type in the Setting of HIV and Acquired Epidermodysplasia Verruciformis. ( 23759878 )
2013
46
High-risk alpha-human papillomavirus types: detection in HIV-infected children with acquired epidermodysplasia verruciformis. ( 23317976 )
2013
47
Epidermodysplasia verruciformis in a young man with HIV since birth - case report. ( 24346916 )
2013
48
Epidermodysplasia verruciformis: an unusual malignant transformation. ( 23254737 )
2013
49
Acquired epidermodysplasia verruciformis: a comprehensive review and a proposal for treatment. ( 23437916 )
2013
50
Cutaneous Granulomas and Epidermodysplasia Verruciformis in Early Onset Combined Immunodeficiency Syndrome. ( 24247584 )
2013

Variations for Epidermodysplasia Verruciformis

ClinVar genetic disease variations for Epidermodysplasia Verruciformis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TMC8 TMC8, 1-BP DEL, 754T deletion Pathogenic
2 TMC8 NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter) single nucleotide variant Pathogenic rs121908330 GRCh37 Chromosome 17, 76131047: 76131047
3 TMC6 NM_007267.7(TMC6): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs121908327 GRCh37 Chromosome 17, 76121957: 76121957
4 TMC6 NM_007267.7(TMC6): c.1726G> T (p.Glu576Ter) single nucleotide variant Pathogenic rs121908328 GRCh37 Chromosome 17, 76115463: 76115463
5 TMC6 NM_007267.7(TMC6): c.744C> A (p.Tyr248Ter) single nucleotide variant Pathogenic rs121908329 GRCh37 Chromosome 17, 76120752: 76120752
6 TMC6 NM_007267.7(TMC6): c.892-2A> T single nucleotide variant Pathogenic rs769471844 GRCh37 Chromosome 17, 76120262: 76120262

Expression for Epidermodysplasia Verruciformis

Search GEO for disease gene expression data for Epidermodysplasia Verruciformis.

Pathways for Epidermodysplasia Verruciformis

Pathways related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.81 CD1A CDH1 IL10 TNF

GO Terms for Epidermodysplasia Verruciformis

Cellular components related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.63 ECM1 IL10 KRT1 KRT10 TMC8 TNF
2 phagocytic cup GO:0001891 8.96 CORO1A TNF
3 cornified envelope GO:0001533 8.8 FLG KRT1 KRT10

Biological processes related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.63 FLG KRT1 KRT10
2 response to organic substance GO:0010033 9.58 CDH1 IL10 TNF
3 negative regulation of mitotic cell cycle GO:0045930 9.54 IL10 TNF
4 negative regulation of interleukin-6 production GO:0032715 9.52 IL10 TNF
5 establishment of skin barrier GO:0061436 9.51 FLG KRT1
6 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.49 IL10 TNF
7 negative regulation of growth of symbiont in host GO:0044130 9.48 IL10 TNF
8 leukocyte chemotaxis GO:0030595 9.43 CORO1A IL10
9 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.37 IL10 TNF
10 peptide cross-linking GO:0018149 9.33 FLG KRT1 KRT10
11 endothelial cell apoptotic process GO:0072577 9.32 IL10 TNF
12 negative regulation of cytokine secretion involved in immune response GO:0002740 9.26 IL10 TNF
13 receptor biosynthetic process GO:0032800 8.96 IL10 TNF
14 skin epidermis development GO:0098773 8.8 FLG KRT1 KRT10

Molecular functions related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 8.8 FLG KRT1 KRT10

Sources for Epidermodysplasia Verruciformis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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