MCID: EPD001
MIFTS: 50

Epidermodysplasia Verruciformis malady

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

Aliases & Classifications for Epidermodysplasia Verruciformis

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen
See all MalaCards sources

Aliases & Descriptions for Epidermodysplasia Verruciformis:

Name: Epidermodysplasia Verruciformis 49 10 11 45 22 47 12 51 67 36 24 65
Lutz-Lewandowsky Epidermodysplasia Verruciformis 45 51
 
Lewandowsky-Lutz Syndrome 45 51
Ev 67

Characteristics:

Orphanet epidemiological data:

51
epidermodysplasia verruciformis:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

OMIM49 226400
Disease Ontology10 DOID:13777
MeSH36 D004819
NCIt42 C113445
Orphanet51 302
SNOMED-CT59 19138001
MESH via Orphanet37 D004819
UMLS via Orphanet66 C0014522
ICD10 via Orphanet28 B07
MedGen34 C0014522
UMLS65 C0014522

Summaries for Epidermodysplasia Verruciformis

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OMIM:49 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 myeloid leukemia and vascular dementia, and has symptoms including seborrheic dermatitis, pustule and skin ulcer. An important gene associated with Epidermodysplasia Verruciformis is TMC6 (Transmembrane Channel Like 6), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, skin and lung, and related mouse phenotypes are pigmentation and integument.

Disease Ontology:10 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:67 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:68 Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia), colloquially known as tree man... more...

Related Diseases for Epidermodysplasia Verruciformis

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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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Symptoms by clinical synopsis from OMIM:

226400

Clinical features from OMIM:

226400

Symptoms:

 51 10 (show all 14)
  • seborrhea/hyperseborrhea/seborrheic dermatitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • pustula/pustulosis
  • warts/papillomas
  • anomalies of the immunitary system
  • autosomal recessive inheritance
  • irregular/patchy skin hypopigmentation
  • cafe-au-lait spot
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance
  • lesions on the body

HPO human phenotypes related to Epidermodysplasia Verruciformis:

(show all 10)
id Description Frequency HPO Source Accession
1 seborrheic dermatitis hallmark (90%) HP:0001051
2 pustule hallmark (90%) HP:0200039
3 skin ulcer hallmark (90%) HP:0200042
4 verrucae hallmark (90%) HP:0200043
5 cafe-au-lait spot typical (50%) HP:0000957
6 hypopigmented skin patches typical (50%) HP:0001053
7 telangiectasia of the skin occasional (7.5%) HP:0100585
8 verrucae HP:0200043
9 basal cell carcinoma HP:0002671
10 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Epidermodysplasia Verruciformis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycolic acidexperimental1279-14-1757
Synonyms:
2-Hydroxyacetate
2-Hydroxyacetic acid
GlyPure
GlyPure 70
Glycocide
Glycolate
Glycolic acid
Glycollate
Glycollic acid
 
Hydroxyacetate
Hydroxyacetic acid
Hydroxyethanoate
Hydroxyethanoic Acid
Hydroxyethanoic acid
Sodium glycolate
a-Hydroxyacetate
a-Hydroxyacetic acid
alpha-Hydroxyacetate
alpha-Hydroxyacetic acid
2Pharmaceutical Solutions7004
3
4Keratolytic Agents273
5Dermatologic Agents4555

Interventional clinical trials:

idNameStatusNCT IDPhase
1Acquired Epidermodysplasia Verruciformis (EV) Syndrome in HIV-infected Pediatric PatientsCompletedNCT01289171
2Evaluation of the Effectiveness of an Alcohol Based Hand Gel for the Reduction of Warts on the HandsCompletedNCT00973856

Search NIH Clinical Center for Epidermodysplasia Verruciformis


Cochrane evidence based reviews: epidermodysplasia verruciformis

Genetic Tests for Epidermodysplasia Verruciformis

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Genetic tests related to Epidermodysplasia Verruciformis:

id Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis22 TMC6, TMC8

Anatomical Context for Epidermodysplasia Verruciformis

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MalaCards organs/tissues related to Epidermodysplasia Verruciformis:

33
Skin, Lung, Breast, T cells, B cells, Pituitary, Heart

FMA organs/tissues related to Epidermodysplasia Verruciformis:

16
Skin

Animal Models for Epidermodysplasia Verruciformis or affiliated genes

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MGI Mouse Phenotypes related to Epidermodysplasia Verruciformis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.0KRT1, KRT14, KRT4, TMC8
2MP:00107717.1CDH1, KRT1, KRT14, KRT16, KRT4, TMC1

Publications for Epidermodysplasia Verruciformis

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Articles related to Epidermodysplasia Verruciformis:

(show top 50)    (show all 376)
idTitleAuthorsYear
1
Prevalence of Coccidiosis in Free-Range Chicken in Sidi Thabet, Tunisia. (27213084)
2016
2
Effects of an induced endometritis on uterine blood flow in cows evaluated by transrectal Doppler sonography. (26645345)
2015
3
Significance of programmed cell death-ligand 1 expression and its association with survival in patients with small cell lung cancer. (25384063)
2015
4
Validation of the clinical prediction rule for recurrent venous thromboembolism in cancer patients: the Ottawa score. (23525939)
2013
5
Epidemiology and awareness of hypertension in a rural Ugandan community: a cross-sectional study. (24321133)
2013
6
Association of serum resistin levels with metabolic syndrome and early atherosclerosis in obese Chinese children. (23729554)
2013
7
The autophagy associated gene, ULK1, promotes tolerance to chronic and acute hypoxia. (23849170)
2013
8
United approach to foot-and-mouth disease. (23173229)
2012
9
Developing the specifications of an open angle glaucoma screening intervention in the United Kingdom: a Delphi approach. (23216983)
2012
10
Within-host dynamics of mycoplasma infections: conjunctivitis in wild passerine birds. (22726809)
2012
11
Clinical presentation and diagnostic delay in bullous pemphigoid: a prospective nationwide cohort. (22709136)
2012
12
Association of the GABRD gene and childhood-onset mood disorders. (20561060)
2010
13
Multi-drug-resistance-reverting agents: 2-aryloxazole and 2-arylthiazole derivatives as potent BCRP or MRP1 inhibitors. (19140144)
2009
14
Conditional survival rates of buccal and tongue cancer patients: how far does the benefit go? (18715814)
2009
15
HMGA1 protein is a novel target of the ATM kinase. (18783938)
2008
16
The pathogenesis of poliomyelitis: what we don't know. (18585526)
2008
17
Calcium-calmodulin mediates house dust mite-induced ERK activation and IL-8 production in human respiratory epithelial cells. (17268170)
2007
18
Clinico-Pathological and Prognostic Significance of p53, Bcl-2 and Her-2/neu Protein Markers in Colorectal Cancer Using Tissue Microarray. (18839030)
2007
19
Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS. (17543992)
2007
20
Angiotensin II-induced sudden arrhythmic death and electrical remodeling. (17416596)
2007
21
Pigmented villonodular synovitis of the elbow in a 6-year-old girl: a case report. (17429130)
2007
22
Anemia, chronic renal disease and congestive heart failure--the cardio renal anemia syndrome: the need for cooperation between cardiologists and nephrologists. (16868702)
2006
23
Silicosis caused by sandblasting of jeans in Turkey: a report of two concomitant cases. (16096363)
2005
24
Detection of channel proximity by nanoparticle-assisted delaying of toxin binding; a combined patch-clamp and flow cytometric energy transfer study. (15375639)
2005
25
Regulation of S100A8/A9 (calprotectin) binding to tumor cells by zinc ion and its implication for apoptosis-inducing activity. (16258195)
2005
26
Trans-obturator vaginal tape (TOT) for female stress incontinence: one year follow-up in 120 patients. (16182440)
2005
27
Pregnancy in membranous glomerulonephritis--course, treatment and outcome. (14964459)
2004
28
Fresh frozen plasma for acute exacerbations of hereditary angioedema. (15666287)
2004
29
pDNA bioparticles: comparative heterogeneity, surface, binding, and activity analyses. (15178424)
2004
30
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (11781872)
2002
31
Re: Amin MA, Bailey BMW, Patel SR. Clinical and radiological evidence to support superficial parotidectomy as a treatment of choice for chronic parotid sialadenitis: a retrospective study. Br J Oral Maxillofac Surg 2001; 39: 348-352. (12379202)
2002
32
Molecular characterization of an extended binding site for coagulation factor Va in the positive exosite of activated protein C. (12063259)
2002
33
Glucose exerts a permissive effect on the regulation of the initiation factor 4E binding protein 4E-BP1. (11513750)
2001
34
HRAD1 and MRad1 encode mammalian homologues of the fission yeast rad1+ cell cycle checkpoint control gene. (9705507)
1998
35
Downregulation of telomerase activity in HL60 cells by differentiating agents is accompanied by increased expression of telomerase-associated protein. (9328835)
1997
36
Human monocyte binding to fibronectin enhances IFN-gamma-induced early signaling events. (9278334)
1997
37
Steroid 21-hydroxylase expression and activity in human lymphocytes. (9099896)
1997
38
Gossypol-induced hypokalemia and role of exogenous potassium salt supplementation when used as an antispermatogenic agent in male langur monkey. (9408707)
1997
39
Case report: elastofibroma dorsi: a pseudomalignant lesion. (8549053)
1996
40
Pro-gastrin-releasing peptide(31-98) is a specific tumor marker in patients with small cell lung carcinoma. (8174119)
1994
41
Relationship between the concentrations of estriol sulfate and estrone sulfate in human breast cyst fluid. (1387652)
1992
42
Bolus or intravenous infusion of ranitidine: effects on gastric pH and acid secretion. A comparison of relative efficacy and cost. (2306061)
1990
43
Structure of the human oestrogen-responsive gene pS2. (3822834)
1987
44
Bacterial conjunctivitis. (3520982)
1986
45
Effect of neurotensin in the dumping syndrome. (3726454)
1986
46
Tourette syndrome, atypical pervasive developmental disorder and Ganser syndrome in a 15-year-old, visually impaired, mentally retarded boy. (3855681)
1985
47
Constitutional narrowness of the lumbar spinal canal and cheiro-lumbar dysostosis. (7072555)
1982
48
Results of transantral decompression in hyperthyroid exophthalmos. (923413)
1977
49
Occupational dermatitis from pyrolysis products of polythene. (4184559)
1969
50
Dextrocardia and bronchiectasis, a review of the literature and a report of two cases. (20996259)
1946

Variations for Epidermodysplasia Verruciformis

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Clinvar genetic disease variations for Epidermodysplasia Verruciformis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TMC8TMC8, 1-BP DEL, 754TdeletionPathogenic
2TMC8NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter)single nucleotide variantPathogenicrs121908330GRCh37Chr 17, 76131047: 76131047
3TMC6NM_007267.7(TMC6): c.280C> T (p.Arg94Ter)single nucleotide variantPathogenicrs121908327GRCh37Chr 17, 76121957: 76121957
4TMC6NM_007267.7(TMC6): c.1726G> T (p.Glu576Ter)single nucleotide variantPathogenicrs121908328GRCh37Chr 17, 76115463: 76115463
5TMC6NM_007267.7(TMC6): c.744C> A (p.Tyr248Ter)single nucleotide variantPathogenicrs121908329GRCh37Chr 17, 76120752: 76120752
6TMC6NM_007267.7(TMC6): c.892-2A> Tsingle nucleotide variantPathogenicrs769471844GRCh37Chr 17, 76120262: 76120262

Expression for genes affiliated with Epidermodysplasia Verruciformis

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Search GEO for disease gene expression data for Epidermodysplasia Verruciformis.

Pathways for genes affiliated with Epidermodysplasia Verruciformis

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.2KRT1, KRT14, KRT16, KRT4

GO Terms for genes affiliated with Epidermodysplasia Verruciformis

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

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:00450959.1KRT1, KRT14, KRT4
2extracellular exosomeGO:00700628.2CDH1, KRT10, KRT14, TMC6, TMC8

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

idNameGO IDScoreTop Affiliating Genes
1epithelial cell differentiationGO:00308559.2KRT14, KRT4

Sources for Epidermodysplasia Verruciformis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet