EV4
MCID: EPD086
MIFTS: 21

Epidermodysplasia Verruciformis 4 (EV4)

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

Aliases & Classifications for Epidermodysplasia Verruciformis 4

MalaCards integrated aliases for Epidermodysplasia Verruciformis 4:

Name: Epidermodysplasia Verruciformis 4 58 76
T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 60 6
Epidermodysplasia Verruciformis, Susceptibility to, 4 58 6
Ev4 58 76
T-Cell Immunodeficiency Due to Rhoh Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
t-cell immunodeficiency with epidermodysplasia verruciformis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
two sibs born of consanguineous french parents have been reported (last curated january 2019)


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 618307
MeSH 45 D004819
ICD10 via Orphanet 35 D84.8
Orphanet 60 ORPHA324294
MedGen 43 CN258177

Summaries for Epidermodysplasia Verruciformis 4

UniProtKB/Swiss-Prot : 76 Epidermodysplasia verruciformis 4: A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV4 patients have decreased number of naive T cells, increased memory and effector T cells, and impaired T-cell receptor signaling. EV4 inheritance is autosomal recessive.

MalaCards based summary : Epidermodysplasia Verruciformis 4, is also known as t-cell immunodeficiency with epidermodysplasia verruciformis. An important gene associated with Epidermodysplasia Verruciformis 4 is RHOH (Ras Homolog Family Member H). Affiliated tissues include t cells, skin and testes, and related phenotypes are emphysema and facial erythema

OMIM : 58 Epidermodysplasia verruciformis-4 is an autosomal recessive immunologic disorder characterized by increased susceptibility to certain human papilloma viruses (HPV) that cause warts and skin lesions. Affected individuals present in childhood with disseminated flat warts and psoriatic-like lesions that do not respond to treatment. Immunologic workup shows defects in T-cell development and signaling (summary by Crequer et al., 2012). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). (618307)

Related Diseases for Epidermodysplasia Verruciformis 4

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 4

Human phenotypes related to Epidermodysplasia Verruciformis 4:

33
# Description HPO Frequency HPO Source Accession
1 emphysema 33 HP:0002097
2 facial erythema 33 HP:0001041

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair:
epidermodysplasia verruciformis
hpv-related warts, disseminated
psoriatic lesions, disseminated
papillomas
molluscum-like lesions
more
Respiratory Airways:
chronic bronchial disease (patient a)
emphysema (patient a)

Neoplasia:
burkitt lymphoma (patient a)

Head And Neck Mouth:
gingivostomatitis (patient b)

Immunology:
increased susceptibility to hpv infections
normal overall lymphocyte and t cells counts
decreased numbers of naive t cells
increased memory and effector t cells
impaired t-cell receptor signaling

Clinical features from OMIM:

618307

Drugs & Therapeutics for Epidermodysplasia Verruciformis 4

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 4

Genetic Tests for Epidermodysplasia Verruciformis 4

Anatomical Context for Epidermodysplasia Verruciformis 4

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 4:

42
T Cells, Skin, Testes

Publications for Epidermodysplasia Verruciformis 4

Articles related to Epidermodysplasia Verruciformis 4:

# Title Authors Year
1
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. ( 22850876 )
2012
2
A PCR-based diagnostic test for the endogenous retroviral element ev4 of chickens. ( 7486263 )
1995

Variations for Epidermodysplasia Verruciformis 4

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 4:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHOH NM_004310.4(RHOH): c.144T> C (p.Asp48=) single nucleotide variant Likely benign rs76788449 GRCh38 Chromosome 4, 40243530: 40243530
2 RHOH NM_004310.4(RHOH): c.144T> C (p.Asp48=) single nucleotide variant Likely benign rs76788449 GRCh37 Chromosome 4, 40245150: 40245150
3 RHOH NM_004310.4(RHOH): c.537_539delAAG (p.Arg181del) deletion Uncertain significance rs757821004 GRCh38 Chromosome 4, 40243923: 40243925
4 RHOH NM_004310.4(RHOH): c.537_539delAAG (p.Arg181del) deletion Uncertain significance rs757821004 GRCh37 Chromosome 4, 40245543: 40245545
5 RHOH NM_004310.4(RHOH): c.42T> C (p.Ala14=) single nucleotide variant Likely benign rs114176176 GRCh38 Chromosome 4, 40243428: 40243428
6 RHOH NM_004310.4(RHOH): c.42T> C (p.Ala14=) single nucleotide variant Likely benign rs114176176 GRCh37 Chromosome 4, 40245048: 40245048
7 RHOH NM_004310.4(RHOH): c.510C> G (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh37 Chromosome 4, 40245516: 40245516
8 RHOH NM_004310.4(RHOH): c.510C> G (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh38 Chromosome 4, 40243896: 40243896
9 RHOH NM_004310.4(RHOH): c.510C> T (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh37 Chromosome 4, 40245516: 40245516
10 RHOH NM_004310.4(RHOH): c.510C> T (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh38 Chromosome 4, 40243896: 40243896
11 RHOH NM_004310.4(RHOH): c.181G> A (p.Gly61Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 40245187: 40245187
12 RHOH NM_004310.4(RHOH): c.181G> A (p.Gly61Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 40243567: 40243567
13 RHOH NM_004310.5(RHOH): c.114C> G (p.Tyr38Ter) single nucleotide variant risk factor GRCh37 Chromosome 4, 40245120: 40245120
14 RHOH NM_004310.5(RHOH): c.114C> G (p.Tyr38Ter) single nucleotide variant risk factor GRCh38 Chromosome 4, 40243500: 40243500

Expression for Epidermodysplasia Verruciformis 4

Search GEO for disease gene expression data for Epidermodysplasia Verruciformis 4.

Pathways for Epidermodysplasia Verruciformis 4

GO Terms for Epidermodysplasia Verruciformis 4

Sources for Epidermodysplasia Verruciformis 4

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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