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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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
Multiple Low-Grade Sarcomas of Fibroblastic Type in the Setting of HIV and Acquired Epidermodysplasia Verruciformis. (23759878)
2013
2
Acquired epidermodysplasia verruciformis: a comprehensive review and a proposal for treatment. (23437916)
2013
3
Acquired epidermodysplasia verruciformis syndrome in HIV-infected pediatric patients: prospective treatment trial with topical glycolic acid and human papillomavirus genotype characterization. (21931014)
2012
4
Epidermodysplasia verruciformis associated with plasmablastic lymphoma and hepatitis B virus infection. (23317490)
2012
5
Idiopathic CD4+ T lymphocytopenia with epidermodysplasia verruciformis-like skin eruption, Nocardia farcinica brain abscesses and pulmonary tuberculosis: a case report with fatal outcome. (21998835)
2011
6
Post-ART epidermodysplasia verruciformis in a patient with AIDS. (20071592)
2010
7
Multifocal leiomyosarcomatosis in a 6-year-old child with epidermodysplasia verruciformis and immune defect. (19573649)
2009
8
Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn. (18638629)
2008
9
Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis. (18727487)
2008
10
Epidermodysplasia verruciformis. (18627738)
2008
11
Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations. (17960179)
2008
12
Multiple facial seborrheic keratosis-like lesions in a young woman with epidermodysplasia verruciformis. (18412865)
2008
13
Subungual Bowen disease in a patient with epidermodysplasia verruciformis presenting clinically as longitudinal melanonychia. (19033934)
2008
14
Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient. (17139267)
2007
15
Epidermodysplasia verruciformis and generalized verrucosis: the same disease? (16681585)
2006
16
Epidermodysplasia verruciformis with severe hands and feet deformity successfully treated by surgical excision. (16792785)
2006
17
Human papillomaviruses associated with epidermodysplasia verruciformis in non-melanoma skin cancers: guilty or innocent? (15982294)
2005
18
Epidermodysplasia verruciformis with multiple mucosal carcinomas treated with pegylated interferon alfa and acitretin. (14522631)
2003
19
Polymorphisms of the interleukin 10 gene promoter in patients from Brazil with epidermodysplasia verruciformis. (14512909)
2003
20
Dual role of tumor suppressor p53 in regulation of DNA replication and oncogene E6-promoter activity of epidermodysplasia verruciformis-associated human papillomavirus type 8. (12706078)
2003
21
Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia. (14511000)
2003
22
Epidermodysplasia verruciformis: 14 members of a pedigree with an intriguing squamous cell carcinoma transformation. (12207766)
2002
23
Remission of epidermodysplasia verruciformis-like skin eruption after highly active antiretroviral therapy in a human immunodeficiency virus-positive patient. (11703302)
2001
24
Psoriasis: A possible reservoir for human papillomavirus type 5, the virus associated with skin carcinomas of epidermodysplasia verruciformis. (9540967)
1998
25
A possible vertical transmission of human papillomavirus genotypes associated with epidermodysplasia verruciformis. (9699739)
1998
26
Cultured epidermal-sheet graft for epidermodysplasia verruciformis. (9728996)
1998
27
Skin autografts in epidermodysplasia verruciformis: human papillomavirus-associated cutaneous changes need over 20 years for malignant conversion. (9331078)
1997
28
Spiny hyperkeratosis of the fingers as an unusual sign of epidermodysplasia verruciformis. (7868732)
1995
29
Seborrheic keratoses of black patients with epidermodysplasia verruciformis contain human papillomavirus DNA. (8382012)
1993
30
Human papillomavirus (HPV) types specific of epidermodysplasia verruciformis detected in warts induced by HPV3 or HPV3-related types in immunosuppressed patients. (1317396)
1992
31
Differences in transforming activity and coded amino acid sequence among E6 genes of several papillomaviruses associated with epidermodysplasia verruciformis. (1310189)
1992
32
Types of human papillomavirus isolated from Japanese patients with epidermodysplasia verruciformis. (2560401)
1989
33
The heterogeneity of tumours associated with epidermodysplasia verruciformis. (2436421)
1987
34
Epidermodysplasia verruciformis: Langerhans cells, immunologic effect of retinoid treatment and cytogenetics. (3499869)
1987
35
Epidermodysplasia verruciformis-associated human papillomavirus 8: genomic sequence and comparative analysis. (3009874)
1986
36
Epidermodysplasia verruciformis. (3958280)
1986
37
Follow-up of patients with epidermodysplasia verruciformis treated with etretinate. (3021547)
1986
38
Failure of etretinate in epidermodysplasia verruciformis. (3792602)
1986
39
Response of warts in epidermodysplasia verruciformis to treatment with systemic and intralesional alpha interferon. (6384282)
1984
40
Regression of the lesions of epidermodysplasia verruciformis. (7104203)
1982
41
T cell defect in patients with epidermodysplasia verruciformis due to human papillomavirus type 3 and 5. (6265297)
1981
42
Oral retinoid treatment of human papillomavirus type 5-induced epidermodysplasia verruciformis. (6245361)
1980
43
Twenty-one years of follow-up studies of familial epidermodysplasia verruciformis. (220107)
1979
44
Characteristics of the lesions and risk of malignant conversion associated with the type of human papillomavirus involved in epidermodysplasia verruciformis. (218721)
1979
45
Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. (212144)
1978
46
Comparative electron microscopic study of clear cells in epidermodysplasia verruciformis and flat warts. (718259)
1978
47
Epidermodysplasia verruciformis. 3. Ultraviolet micro-irradiation of cells in culture. (4840892)
1974
48
Further histological investigations on malignant degeneration of cutaneous lesions in epidermodysplasia verruciformis. (4193220)
1970
49
Keratosis palmaris et plantaris (epidermodysplasia verruciformis?). (20343475)
1947
50
Epidermodysplasia verruciformis. (21026371)
1946

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
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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