MCID: EPD001
MIFTS: 56

Epidermodysplasia Verruciformis malady

Genetic diseases, Rare diseases, Skin diseases, Blood diseases categories

Summaries for Epidermodysplasia Verruciformis

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9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Disease Ontology:9 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.

MalaCards: Epidermodysplasia Verruciformis, also known as lutz-lewandowsky epidermodysplasia verruciformis, is related to keratosis and psoriasis, and has symptoms including lesions on the body, pustula/pustulosis and skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma). An important gene associated with Epidermodysplasia Verruciformis is TMC8 (transmembrane channel-like 8), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The compounds dithranol and calcipotriol have been mentioned in the context of this disorder. Affiliated tissues include skin, skin and t cells, and related mouse phenotypes are pigmentation and integument.

Wikipedia:66 Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia) is an extremely rare autosomal... more...

Description from OMIM:48 226400,305350

Aliases & Classifications for Epidermodysplasia Verruciformis

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

50
epidermodysplasia verruciformis:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

epidermodysplasia verruciformis 9 10 44 48 11 46 50 63
lutz-lewandowsky epidermodysplasia verruciformis 44 50
lewandowsky-lutz syndrome 44 50


External Ids:

Disease Ontology9 DOID:13777
MeSH36 D004819
MESH via Orphanet37 D004819
SNOMED-CT59 19138001
ICD10 via Orphanet27 B07
SNOMED-CT via Orphanet60 19138001
UMLS via Orphanet64 C0014522

Related Diseases for Epidermodysplasia Verruciformis

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Epidermodysplasia Verruciformis:



Diseases related to epidermodysplasia verruciformis

Symptoms for Epidermodysplasia Verruciformis

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48OMIM, 9Disease Ontology
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Symptoms by clinical synopsis from OMIM:

226400

Clinical features from OMIM:

226400,305350

Symptoms:

9 (show all 14)
  • lesions on the body
  • pustula/pustulosis
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • seborrhea/hyperseborrhea/seborrheic dermatitis
  • cafe-au-lait spot
  • autosomal dominant inheritance
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • telangiectasiae of the skin
  • warts/papillomas
  • irregular/patchy skin hypopigmentation
  • anomalies of the immunitary system
  • autosomal recessive inheritance

Drugs & Therapeutics for Epidermodysplasia Verruciformis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Epidermodysplasia Verruciformis

Search NIH Clinical Center for Epidermodysplasia Verruciformis

Search CenterWatch for Epidermodysplasia Verruciformis

Genetic Tests for Epidermodysplasia Verruciformis

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Anatomical Context for Epidermodysplasia Verruciformis

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Epidermodysplasia Verruciformis:

34
Skin, T cells, Testes, Eye, Brain, Myeloid

FMA organs/tissues related to Epidermodysplasia Verruciformis:

15
Skin

Animal Models for Epidermodysplasia Verruciformis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Epidermodysplasia Verruciformis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT4, KRT1, TMC8
2MP:00107717.9KRT16, KRT4, KRT1, KRT10, TMC6

Publications for Epidermodysplasia Verruciformis

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Sources:
53PubMed
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Articles related to Epidermodysplasia Verruciformis:

(show top 50)    (show all 347)
idTitleAuthorsYear
1
Cutaneous Granulomas and Epidermodysplasia Verruciformis in Early Onset Combined Immunodeficiency Syndrome. (24247584)
2013
2
Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology. (23534907)
2013
3
Multiple Low-Grade Sarcomas of Fibroblastic Type in the Setting of HIV and Acquired Epidermodysplasia Verruciformis. (23759878)
2013
4
Characterization of beta papillomavirus E4 expression in tumours from Epidermodysplasia Verruciformis patients and in experimental models. (22217391)
2012
5
Dye laser photodynamic therapy for Bowen's disease in a patient with epidermodysplasia verruciformis. (23610850)
2012
6
Acquired Epidermodysplasia Verruciformis in a Child with Atopic Dermatitis. (22938530)
2012
7
Merkel cell carcinoma presenting in a young patient as a forme fruste of variant epidermodysplasia verruciformis. (21839331)
2011
8
Seroreactivity of 38 human papillomavirus types in epidermodysplasia verruciformis patients, relatives, and controls. (19924140)
2010
9
Merkel cell polyomavirus in Merkel cell carcinoma from a Brazilian epidermodysplasia verruciformis patient. (20398819)
2010
10
Epidermodysplasia verruciformis and susceptibility to HPV. (21178278)
2010
11
Epidermodysplasia verruciformis-like syndrome in association with systemic lupus erythematosus. (19178492)
2009
12
Epidermodysplasia verruciformis associated with myelodysplastic syndrome: an intriguing association. (19919810)
2009
13
Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn. (18638629)
2008
14
Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis. (18727487)
2008
15
Epidermodysplasia verruciformis associated with isolated IgM deficiency. (18032865)
2007
16
Changes of epidermodysplasia verruciformis in benign skin lesions: the EV acanthoma. (17214854)
2007
17
Cervical intraepithelial neoplasia associated with epidermodysplasia verruciformis HPV in an HIV-infected patient: a manifestation of immune restoration syndrome. (17337400)
2007
18
Dermoscopy in epidermodysplasia verruciformis. (16393609)
2006
19
A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis. (16045695)
2005
20
Human papillomaviruses associated with epidermodysplasia verruciformis in non-melanoma skin cancers: guilty or innocent? (15982294)
2005
21
The lack of a clinical effect of cimetidine in the treatment of epidermodysplasia verruciformis. (15153919)
2004
22
Sunlight exposure and (sero)prevalence of epidermodysplasia verruciformis-associated human papillomavirus. (15175037)
2004
23
Epidermodysplasia verruciformis with multiple mucosal carcinomas treated with pegylated interferon alfa and acitretin. (14522631)
2003
24
HPV5b variant in a neoplastic lesion of an Italian patient affected by epidermodysplasia verruciformis. (11701412)
2001
25
Association between epidermodysplasia verruciformis-associated human papillomavirus DNA in plucked eyebrow hair and solar keratoses. (11710920)
2001
26
Patients with epidermodysplasia verruciformis show no response to contact immunotherapy. (11244240)
2001
27
Distinctive distribution of human papillomavirus type 16 and type 20 DNA in the tonsillar and the skin carcinomas of a patient with epidermodysplasia verruciformis. (11069510)
2000
28
A novel human papillomavirus DNA sequence related to epidermodysplasia verruciformis-associated types isolated from recurrent scar carcinoma. (10376716)
1999
29
Human papillomavirus DNA in non-melanoma skin cancers of a renal transplant recipient: detection of a new sequence related to epidermodysplasia verruciformis associated types. (8980287)
1997
30
Epidermodysplasia verruciformis. (9000832)
1996
31
Spiny hyperkeratosis of the fingers as an unusual sign of epidermodysplasia verruciformis. (7868732)
1995
32
Involvement of human papillomavirus type 20 in epidermodysplasia verruciformis skin carcinogenesis. (8027315)
1994
33
Unique topography of DNA-protein interactions in the non-coding region of epidermodysplasia verruciformis-associated human papillomaviruses. (1662691)
1991
34
Epidermodysplasia verruciformis-associated papillomavirus infection complicating human immunodeficiency virus disease. (1847068)
1991
35
Human papillomavirus type 17 transcripts expressed in skin carcinoma tissue of a patient with epidermodysplasia verruciformis. (3032809)
1987
36
A novel type of human papilloma virus DNA from the lesion of epidermodysplasia verruciformis. (3023264)
1986
37
Epidermodysplasia verruciformis. (2982549)
1985
38
Epidermodysplasia verruciformis associated with Bowen's carcinoma, B lymphocytopenia and decreased immune functions. (3005064)
1985
39
Identification of HLA antigens in familial and non-familial epidermodysplasia verruciformis. (3856540)
1985
40
Characterization of two HPV-3 related papillomaviruses from common warts that are distinct clinically from flat warts or epidermodysplasia verruciformis. (6302170)
1983
41
Regression of the lesions of epidermodysplasia verruciformis. (7104203)
1982
42
Isolation of a human papillomavirus from a patient with epidermodysplasia verruciformis: presence of related viral DNA genomes in human urogenital tumors. (6289302)
1982
43
Epidermodysplasia verruciformis (Lewandowsky-Lutz): the revived report of a case seen in 1944. (7451006)
1980
44
UV-induced DNA repair synthesis in patients with epidermodysplasia verruciformis. (6244993)
1980
45
Epidermodysplasia verruciformis: viral particles in early malignant lesions. (701842)
1978
46
Epidermodysplasia verruciformis. 3. Ultraviolet micro-irradiation of cells in culture. (4840892)
1974
47
The ultrastructure of transitional states to Bowen's disease and invasive Bowen's carcinoma in epidermodysplasia verruciformis. (5414361)
1970
48
Epidermodysplasia verruciformis and epidermoid carcinoma. Electron microscopic observations. (4291940)
1967
49
Case for diagnosis: epidermodysplasia verruciformis. (14848416)
1951
50
Epidermodysplasia verruciformis. (15427431)
1950

Variations for Epidermodysplasia Verruciformis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Epidermodysplasia Verruciformis:

1
id Gene Name Type Significance SNP ID Assembly Location
1TMC8TMC8, 1-BP DEL, 754TdeletionPathogenic/card/epidermodysplasia_verruciformis
2TMC8NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter)single nucleotide variantPathogenicrs121908330GRCh37Chr 17, 76131047: 76131047
3TMC6NM_007267.6(TMC6): c.280C> T (p.Arg94Ter)single nucleotide variantPathogenicrs121908327GRCh37Chr 17, 76121957: 76121957
4TMC6NM_007267.6(TMC6): c.1726G> T (p.Glu576Ter)single nucleotide variantPathogenicrs121908328GRCh37Chr 17, 76115463: 76115463
5TMC6NM_007267.6(TMC6): c.744C> A (p.Tyr248Ter)single nucleotide variantPathogenicrs121908329GRCh37Chr 17, 76120752: 76120752
6TMC6TMC6, IVS8AS, A-T, -2single nucleotide variantPathogenic

Expression for genes affiliated with Epidermodysplasia Verruciformis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epidermodysplasia Verruciformis

Search GEO for disease gene expression data for Epidermodysplasia Verruciformis.

Pathways for genes affiliated with Epidermodysplasia Verruciformis

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51PathCards, 61Thomson Reuters
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Pathways related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0KRT16, KRT4, KRT1

Compounds for genes affiliated with Epidermodysplasia Verruciformis

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46Novoseek, 62Tocris Bioscience, 30IUPHAR, 12DrugBank, 25HMDB
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Compounds related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1dithranol469.9KRT16, KRT10
2calcipotriol46 62 30 1212.9KRT16, KRT10
3tazarotene46 1210.8KRT10, KRT1
4isoleucine469.7KRT1, KRT10
5hematoxylin469.7KRT1, KRT10
6bromodeoxyuridine469.5KRT1, KRT10
71,25 dihydroxy vitamin d3469.5KRT16, KRT10
8sodium dodecylsulfate469.5KRT16, KRT1
9isotretinoin46 1210.4KRT16, KRT1, KRT10
10paraffin469.3KRT10, KRT1, KRT16
11proline469.3KRT16, KRT1, KRT10
12progesterone46 30 62 25 1213.1KRT10, KRT1, KRT4
13retinoid468.8KRT10, KRT1, KRT4, KRT16
14steroid468.8KRT10, KRT1, KRT16
15retinoic acid46 259.8KRT16, KRT4, KRT1, KRT10

GO Terms for genes affiliated with Epidermodysplasia Verruciformis

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17Gene Ontology
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Cellular components related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450958.9KRT4, KRT1, KRT10
2intermediate filamentGO:0058828.8KRT10, KRT4, KRT16
3extracellular vesicular exosomeGO:0700628.4KRT16, KRT1, KRT10, TMC6, TMC8

Biological processes related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeleton organizationGO:0070109.5KRT16, KRT4
2ion transportGO:0068118.8TMC6, TMC3, TMC8

Products for genes affiliated with Epidermodysplasia Verruciformis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermodysplasia Verruciformis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet