Details of Disease

General Information of Disease (ID: DIS54WBS)

• Disease Name: Epidermodysplasia verruciformis
• Synonyms: EV; ever; Lewandowsky-Lutz syndrome; epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz dysplasia
• Definition: A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
• Disease Hierarchy:
  DISAEGPH: Immune system disorder
  DISSCALK: Hereditary skin disorder
  DIS54WBS: Epidermodysplasia verruciformis
• Disease Identifiers:
  MONDO ID: MONDO_0009176
  MESH ID: D004819
  UMLS CUI: C0014522
  MedGen ID: 41831
  Orphanet ID: 302
  SNOMED CT ID: 19138001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL7	TT8FRMO	Supportive	Autosomal recessive	[1]
CLEC4C	TT7YT06	moderate	Altered Expression	[2]
IL7	TT8FRMO	Strong	Biomarker	[3]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A2	DTIAF6C	moderate	Biomarker	[4]
SLC39A13	DTOTKBS	moderate	Biomarker	[4]
SLC39A4	DTEZCUM	moderate	Biomarker	[4]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXK1	OTLZGS7J	Limited	Biomarker	[5]
IVL	OT4VPNGY	Limited	Altered Expression	[6]
CIB1	OT4BVCRU	Supportive	Autosomal recessive	[7]
IL7	OTT6YSKM	Supportive	Autosomal recessive	[1]
TMC8	OTUAD95X	Supportive	Autosomal recessive	[8]
CORO1A	OTVAZOHC	Moderate	Autosomal recessive	[9]
MST1	OTOC4UNG	Moderate	Unknown	[9]
RASGRP1	OTX9WN2E	moderate	Genetic Variation	[10]
RHOH	OT1J9SEB	Moderate	Autosomal recessive	[9]
SDCBP2	OT1AT2OL	moderate	Altered Expression	[11]
SETD3	OTO5RAU2	moderate	Biomarker	[12]
TEX11	OTJDBGSS	moderate	Biomarker	[4]
STT3A	OTDPS6AV	Strong	Biomarker	[13]
TMC6	OTKH50J4	Strong	Autosomal recessive	[14]

References

• [1] Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency. J Am Acad Dermatol. 2015 Jun;72(6):1082-4. doi: 10.1016/j.jaad.2015.02.1118.
• [2] Plasmacytoid dendritic cells and type I interferon in the immunological response against warts.Clin Exp Dermatol. 2017 Dec;42(8):857-862. doi: 10.1111/ced.13187. Epub 2017 Jul 24.
• [3] Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90years of debate.J Am Acad Dermatol. 2017 Jun;76(6):1161-1175. doi: 10.1016/j.jaad.2016.12.035. Epub 2017 Feb 10.
• [4] Zinc and Skin Disorders.Nutrients. 2018 Feb 11;10(2):199. doi: 10.3390/nu10020199.
• [5] Adenovirus type 5 E1A and E6 proteins of low-risk cutaneous beta-human papillomaviruses suppress cell transformation through interaction with FOXK1/K2 transcription factors.J Virol. 2010 Mar;84(6):2719-31. doi: 10.1128/JVI.02119-09. Epub 2010 Jan 6.
• [6] Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions.J Cutan Pathol. 2009 Jun;36(6):647-54. doi: 10.1111/j.1600-0560.2008.01127.x.
• [7] The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to -papillomaviruses. J Exp Med. 2018 Sep 3;215(9):2289-2310. doi: 10.1084/jem.20170308. Epub 2018 Aug 1.
• [8] Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet. 2002 Dec;32(4):579-81. doi: 10.1038/ng1044. Epub 2002 Nov 11.
• [9] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [10] Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1.Clin Immunol. 2017 Oct;183:142-144. doi: 10.1016/j.clim.2017.08.007. Epub 2017 Aug 16.
• [11] HPV8-E6 Interferes with Syntenin-2 Expression through Deregulation of Differentiation, Methylation and Phosphatidylinositide-Kinase Dependent Mechanisms.Front Microbiol. 2017 Sep 8;8:1724. doi: 10.3389/fmicb.2017.01724. eCollection 2017.
• [12] Enterovirus pathogenesis requires the host methyltransferase SETD3.Nat Microbiol. 2019 Dec;4(12):2523-2537. doi: 10.1038/s41564-019-0551-1. Epub 2019 Sep 16.
• [13] Development of a highly sensitive real-time one step RT-PCR combined complementary locked primer technology and conjugated minor groove binder probe.Virol J. 2011 Jun 29;8:330. doi: 10.1186/1743-422X-8-330.
• [14] Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. J Invest Dermatol. 2019 Jan;139(1):241-244. doi: 10.1016/j.jid.2018.07.010. Epub 2018 Jul 20.