MCID: EPD001
MIFTS: 51

Epidermodysplasia Verruciformis malady

Skin diseases, Blood diseases categories

Summaries for Epidermodysplasia Verruciformis

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 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 squamous cell carcinoma and papilloma, and has symptoms including pustula/pustulosis, lesions on the body 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 are Signal transduction Activin A signaling regulation and HIV Life Cycle. Affiliated tissues include skin, skin and t cells.

Wikipedia:63 Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia) is an extremely rare autosomal... more...

Description from OMIM:46 226400,305350

Aliases & Classifications for Epidermodysplasia Verruciformis

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
epidermodysplasia verruciformis:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

epidermodysplasia verruciformis 8 9 42 46 10 44 48 60
lutz-lewandowsky epidermodysplasia verruciformis 42 48
lewandowsky-lutz syndrome 42 48


External Ids:

Disease Ontology8 DOID:13777
MeSH34 D004819
MESH via Orphanet35 D004819
SNOMED-CT56 19138001
ICD10 via Orphanet26 B07
SNOMED-CT via Orphanet57 19138001
UMLS via Orphanet61 C0014522

Related Diseases for Epidermodysplasia Verruciformis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Epidermodysplasia Verruciformis:



Diseases related to epidermodysplasia verruciformis

Clinical Features for Epidermodysplasia Verruciformis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

226400,305350

Clinical synopsis from OMIM:

226400

Symptoms:

48 (show all 14)
  • pustula/pustulosis
  • lesions on the body
  • 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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Epidermodysplasia Verruciformis

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Anatomical Context for Epidermodysplasia Verruciformis

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Epidermodysplasia Verruciformis:

32
Skin, T cells, Myeloid, Eye, Brain, Testes

FMA organs/tissues related to Epidermodysplasia Verruciformis:

14
Skin

Animal Models for Epidermodysplasia Verruciformis or affiliated genes

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Publications for Epidermodysplasia Verruciformis

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50PubMed
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Articles related to Epidermodysplasia Verruciformis:

(show top 50)    (show all 352)
idTitleAuthorsYear
1
Cutaneous Granulomas and Epidermodysplasia Verruciformis in Early Onset Combined Immunodeficiency Syndrome. (24247584)
2013
2
Epidermodysplasia verruciformis in a young man with HIV since birth - case report. (24346916)
2013
3
Epidermodysplasia verruciformis: an unusual malignant transformation. (23254737)
2013
4
Characterization of beta papillomavirus E4 expression in tumours from Epidermodysplasia Verruciformis patients and in experimental models. (22217391)
2012
5
Acquired Epidermodysplasia Verruciformis in a Child with Atopic Dermatitis. (22938530)
2012
6
Epidermodysplasia verruciformis in an HIV-infected man: a case report and review of the literature. (23363696)
2012
7
Epidermodysplasia verruciformis and susceptibility to HPV. (21178278)
2010
8
What is the evidence for effective treatments of acquired epidermodysplasia verruciformis in HIV-infected patients? (20713825)
2010
9
Treatment of epidermodysplasia verruciformis in human immunodeficiency virus-positive patients. (18462300)
2009
10
Epidermodysplasia verruciformis with keratoacanthoma, Bowen's disease and squamous cell carcinoma: isolation of high-risk types of HPV 5 and unknown type of human papillomavirus. (18266691)
2008
11
Systemic low-dose isotretinoin maintains remission status in epidermodysplasia verruciformis. (18363932)
2008
12
Epidermodysplasia verruciformis in two brothers developing aggressive squamous cell carcinoma. (18076625)
2007
13
Invasive squamous cell carcinoma of the eyes in patients with epidermodysplasia verruciformis. (17457453)
2007
14
Epidermodysplasia verruciformis and cutaneous human papillomavirus DNA, but not genital human papillomavirus DNAs, are frequently detected in vulvar and vaginal melanoma. (17284956)
2007
15
Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. (17008061)
2006
16
Epidermodysplasia verruciformis: an unusual presentation. (16442060)
2006
17
Systemic lupus erythematosus arising in a patient with epidermodysplasia verruciformis. (16482746)
2006
18
Sunlight exposure and (sero)prevalence of epidermodysplasia verruciformis-associated human papillomavirus. (15175037)
2004
19
Why epidermodysplasia verruciformis - a rare genetic disease - has raised such great interest. (15090022)
2004
20
Possible involvement of epidermodysplasia verruciformis human papillomaviruses in the immunopathogenesis of psoriasis: a proposed hypothesis. (14714550)
2003
21
Malignant proliferating trichilemmal tumour associated with human papillomavirus type 21 in epidermodysplasia verruciformis. (12534626)
2003
22
Nonspecific cell-mediated immunity in patients with epidermodysplasia verruciformis. (12692356)
2003
23
Patients with epidermodysplasia verruciformis show no response to contact immunotherapy. (11244240)
2001
24
Susceptibility locus for epidermodysplasia verruciformis not linked to cervical cancer in situ. (12035615)
2001
25
Epidermodysplasia verruciformis: association with isolated IgM deficiency and response to treatment with acitretin. (10671971)
2000
26
Epidermodysplasia verruciformis with neurological manifestations. (9802687)
1998
27
Epidermodysplasia verruciformis. Immunological and nonimmunological surveillance mechanisms: role in tumor progression. (9255439)
1997
28
Epidermodysplasia verruciformis. (9000832)
1996
29
Detection of human papillomavirus (HPV) type 47 DNA in malignant lesions from epidermodysplasia verruciformis by protocols for precise typing of related HPV DNAs. (8789018)
1996
30
Cloning of mucosal and cutaneous HPV sequences in a metastatic squamous cell carcinoma from an epidermodysplasia verruciformis patient. (8702229)
1996
31
Involvement of human papillomavirus type 20 in epidermodysplasia verruciformis skin carcinogenesis. (8027315)
1994
32
Epidermodysplasia verruciformis: immunological and clinical aspects. (8205840)
1994
33
Seborrheic keratosis-like lesions in epidermodysplasia verruciformis. (8396161)
1993
34
Epidermodysplasia verruciformis. (1338070)
1992
35
Natural cell-mediated cytotoxicity against various target cells in patients with epidermodysplasia verruciformis. (2155952)
1990
36
Epidermodysplasia verruciformis. (2486177)
1989
37
Epidermodysplasia verruciformis associated with multiple squamous cell carcinomas. (2854970)
1988
38
Epidemiologic aspects of epidermodysplasia verruciformis (L-L 1922) in Japan. (3095286)
1986
39
Epidermodysplasia verruciformis: a model for understanding the oncogenicity of human papillomaviruses. (3013521)
1986
40
Identification of HLA antigens in familial and non-familial epidermodysplasia verruciformis. (3856540)
1985
41
An immunofluorescence complement-fixation test for detection of human papilloma viruses in various warts and wartlike lesions of epidermodysplasia verruciformis. (6303226)
1983
42
New human papilloma virus isolated from epidermodysplasia verruciformis lesions. (6280858)
1982
43
Interferon treatment of skin cancer in patients with epidermodysplasia verruciformis. (6162063)
1981
44
Epidermodysplasia verruciformis in Nigerians. (157892)
1979
45
Epidermodysplasia verruciformis: viral particles in early malignant lesions. (701842)
1978
46
Immunological studies in epidermodysplasia verruciformis. (212145)
1978
47
Characterization of two types of human papillomaviruses in lesions of epidermodysplasia verruciformis. (206906)
1978
48
Epidermodysplasia verruciformis as a model in studies on the role of papovaviruses in oncogenesis. (5061309)
1972
49
The ultrastructure of transitional states to Bowen's disease and invasive Bowen's carcinoma in epidermodysplasia verruciformis. (5414361)
1970
50
Behavior of virus in malignant degeneration of skin lesion in epidermodysplasia verruciformis. (4314547)
1970

Genetic Variations for Epidermodysplasia Verruciformis

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Expression for genes affiliated with Epidermodysplasia Verruciformis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epidermodysplasia Verruciformis

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Pathways for genes affiliated with Epidermodysplasia Verruciformis

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12EMD Millipore, 53Reactome, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.0TAF7, TAF10, TAF5
2
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9.9TAF11, TAF5, TAF13, TAF10
3
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9.9TAF10, TAF13, TAF5, TAF11
4
Hide members
9.7TAF11, TAF5, TAF13, TAF10, TAF7
5
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
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9.7TAF11, TAF5, TAF13, TAF10, TAF7
6
Hide members
9.7TAF11, TAF5, TAF13, TAF10, TAF7
7
Hide members
9.7TAF11, TAF5, TAF13, TAF10, TAF7
8
Hide members
9.7TAF7, TAF10, TAF13, TAF5, TAF11
9
Hide members
9.7TAF7, TAF10, TAF13, TAF5, TAF11

Compounds for genes affiliated with Epidermodysplasia Verruciformis

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GO Terms for genes affiliated with Epidermodysplasia Verruciformis

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16Gene Ontology
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Cellular components related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor TFTC complexGO:03327610.0TAF7, TAF10, TAF5
2transcription factor TFIID complexGO:0056699.4TAF7, TAF10, TAF13, TAF5, TAF11

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

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent transcription, initiationGO:0063529.9TAF5, TAF13, TAF10, TAF7
2viral processGO:0160329.9TAF10, TAF13, TAF5, TAF11
3transcription elongation from RNA polymerase II promoterGO:0063689.8TAF10, TAF13, TAF5, TAF11
4ion transportGO:0068119.6TMC6, TMC7, TMC2, TMC5, TMC3, TMC8
5transcription from RNA polymerase II promoterGO:0063669.5NFIC, TAF11, TAF5, TAF13, TAF10, TAF7
6transcription initiation from RNA polymerase II promoterGO:0063679.4TAF11, TAF5, TAF13, TAF10, TAF7

Molecular functions related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin D receptor bindingGO:04280910.1TAF7, TAF11
2thyroid hormone receptor bindingGO:0469669.9TAF7, TAF11
3sequence-specific DNA binding transcription factor activityGO:0037009.6TAF7, TAF10, TAF13, TAF5, NFIC

Products for genes affiliated with Epidermodysplasia Verruciformis

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Sources for Epidermodysplasia Verruciformis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet