MCID: EPD001
MIFTS: 51

Epidermodysplasia Verruciformis malady

Skin diseases, Blood diseases categories

Summaries for Epidermodysplasia Verruciformis

About this section
Sources:
8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
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
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to epidermodysplasia verruciformis

Clinical Features for Epidermodysplasia Verruciformis

About this section
Sources:
46OMIM, 48Orphanet
See all sources

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Epidermodysplasia Verruciformis

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

About this section

Anatomical Context for Epidermodysplasia Verruciformis

About this section
Sources:
32MalaCards, 14FMA
See all sources

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

About this section

Publications for Epidermodysplasia Verruciformis

About this section
Sources:
50PubMed
See all sources

Articles related to Epidermodysplasia Verruciformis:

(show top 50)    (show all 352)
idTitleAuthorsYear
1
Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology. (23534907)
2013
2
Acquired epidermodysplasia verruciformis in a patient with congenital HIV infection. (24067256)
2013
3
Sustained clinical resolution of acquired epidermodysplasia verruciformis in an immunocompromised patient after discontinuation of oral acitretin with topical imiquimod. (23545921)
2013
4
Dye laser photodynamic therapy for Bowen's disease in a patient with epidermodysplasia verruciformis. (23610850)
2012
5
Human papillomavirus and squamous cell cancer of the skin--epidermodysplasia verruciformis-associated human papillomavirus revisited. (22377919)
2012
6
Merkel cell carcinoma presenting in a young patient as a forme fruste of variant epidermodysplasia verruciformis. (21839331)
2011
7
Homozygosity for the c.917Aa89T (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz. (21196704)
2011
8
Epidermodysplasia verruciformis associated with myelodysplastic syndrome: an intriguing association. (19919810)
2009
9
Epidermodysplasia verruciformis in a HIV-positive patient homozygous for the c917A-->T polymorphism in the TMC8/EVER2 gene. (19005244)
2009
10
'HPV vulvitis' revisited: frequent and persistent detection of novel epidermodysplasia verruciformis-associated HPV genotypes. (18251739)
2008
11
Epidermodysplasia verruciformis associated with isolated IgM deficiency. (18032865)
2007
12
Common variable immunodeficiency syndrome associated with epidermodysplasia verruciformis. (17902733)
2007
13
Clinical aspects of epidermodysplasia verruciformis and review of the literature. (17910717)
2007
14
Detection of epidermodysplasia verruciformis-associated human papillomavirus DNA in nongenital seborrhoeic keratosis. (15541085)
2004
15
Cimetidine therapy for epidermodysplasia verruciformis. (12582373)
2003
16
Epidermodysplasia verruciformis-like lesions in a patient with systemic lupus erythematosus. (12816165)
2003
17
High frequency of detection of human papillomaviruses associated with epidermodysplasia verruciformis in children with psoriasis. (14616375)
2003
18
Epidermodysplasia verruciformis associated with neurofibromatosis type 1: coincidental association or model for understanding the underlying mechanism of the disease? (11952554)
2002
19
The histologic spectrum of epidermodysplasia verruciformis in transplant and AIDS patients. (12207742)
2002
20
The histologic spectrum of epidermodysplasia verruciformis. (11023102)
2000
21
Epidermodysplasia verruciformis associated with human papillomavirus 20 in a Korean child. (11099100)
2000
22
Epidermodysplasia verruciformis. (20944340)
1997
23
P53 expression and human papillomavirus infection in transplant recipients and in patients with epidermodysplasia verruciformis. (8746364)
1996
24
Epidermodysplasia verruciformis in Africans. (8270338)
1993
25
Epidermodysplasia verruciformis as a model of human papillomavirus-induced genetic cancers: the role of local immunosurveillance. (1335684)
1992
26
Epidermodysplasia verruciformis-associated papillomavirus infection complicating human immunodeficiency virus disease. (1847068)
1991
27
Invasive squamous cell carcinoma in a patient with epidermodysplasia verruciformis. (2005254)
1991
28
Prognosis and treatment of advanced squamous cell carcinoma secondary to epidermodysplasia verruciformis: a worldwide analysis of 11 patients. (2005244)
1991
29
Epidermodysplasia verruciformis accompanied by large granular lymphocytosis. Report of a case and immunological studies. (2653226)
1989
30
Two human papillomavirus DNAs molecularly cloned from a patient with epidermodysplasia verruciformis: restriction maps. (2845712)
1988
31
A novel type of human papilloma virus DNA from the lesion of epidermodysplasia verruciformis. (3023264)
1986
32
Epidermodysplasia verruciformis. Skin carcinoma containing human papillomavirus type 5 DNA sequences and primary hepatocellular carcinoma associated with chronic hepatitis B virus infection in a patient. (2426900)
1986
33
Epidermodysplasia verruciformis. (2982549)
1985
34
Epidermodysplasia verruciformis associated with Bowen's carcinoma, B lymphocytopenia and decreased immune functions. (3005064)
1985
35
Epidermodysplasia verruciformis. Clinical and light- and electron-microscopic observations during etretinate therapy. (3006608)
1985
36
Increased natural killer cell activity in patients with epidermodysplasia verruciformis. (2981519)
1985
37
An intranuclear virus in epidermodysplasia verruciformis. Electron microscopic studies. (6100443)
1984
38
Tumor conference #52. Epidermodysplasia verruciformis. (6725737)
1984
39
Human papilloma virus 5-DNA in a carcinoma of an epidermodysplasia verruciformis patient infected with various human papillomavirus types. (6297727)
1983
40
Depressed immune function in epidermodysplasia verruciformis. (848981)
1977
41
Epidermodysplasia verruciformis. (1266830)
1976
42
The virus of epidermodysplasia verruciformis: electron microscopic and fluorescent antibody studies. (808576)
1975
43
Epidermodysplasia Verruciformis. II. Uridine incorporation. (4747540)
1973
44
Epidermodysplasia verruciformis: its virus and cancer. (4630343)
1972
45
Malignant degeneration of skin lesions in epidermodysplasia verruciformis. (4184278)
1969
46
Viral verruca, human papova virus infection. Epidermodysplasia verruciformis, vacuolar degeneration of the epidermis. (5676690)
1968
47
Epidermodysplasia verruciformis with electron microscopic demonstration of virus. (5662209)
1968
48
On the viral etiology of epidermodysplasia verruciformis. (5922271)
1966
49
Epidermodysplasia verruciformis; mixed type of epithelioma; ulcerating area of forehead. (18098678)
1948
50
Epidermodysplasia verruciformis. (20342292)
1947

Genetic Variations for Epidermodysplasia Verruciformis

About this section

Expression for genes affiliated with Epidermodysplasia Verruciformis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
12EMD Millipore, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG
See all sources

Pathways related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Epidermodysplasia Verruciformis

About this section

GO Terms for genes affiliated with Epidermodysplasia Verruciformis

About this section
Sources:
16Gene Ontology
See all sources

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:0063689.8TAF11, TAF5, TAF13, TAF10
4ion transportGO:0068119.6TMC4, TMC8, TMC3, TMC5, TMC2, TMC7
5transcription from RNA polymerase II promoterGO:0063669.5NFIC, TAF11, TAF5, TAF13, TAF10, TAF7
6transcription initiation from RNA polymerase II promoterGO:0063679.4TAF7, TAF10, TAF13, TAF5, TAF11

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermodysplasia Verruciformis

About this section
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