EV4
MCID: EPD086
MIFTS: 23

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 57 72
Epidermodysplasia Verruciformis, Susceptibility to, 4 57 29 6
T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 58 6
Ev4 57 72
T-Cell Immunodeficiency Due to Rhoh Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
t-cell immunodeficiency with epidermodysplasia verruciformis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
epidermodysplasia verruciformis 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 618307
OMIM Phenotypic Series 57 PS226400
MeSH 44 D004819
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA324294

Summaries for Epidermodysplasia Verruciformis 4

UniProtKB/Swiss-Prot : 72 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 epidermodysplasia verruciformis, susceptibility to, 4. An important gene associated with Epidermodysplasia Verruciformis 4 is RHOH (Ras Homolog Family Member H). Affiliated tissues include t cells, and related phenotypes are emphysema and facial erythema

OMIM® : 57 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) (Updated 05-Apr-2021)

Related Diseases for Epidermodysplasia Verruciformis 4

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 4

Human phenotypes related to Epidermodysplasia Verruciformis 4:

31
# Description HPO Frequency HPO Source Accession
1 emphysema 31 HP:0002097
2 facial erythema 31 HP:0001041
3 stomatitis 31 HP:0010280
4 burkitt lymphoma 31 HP:0030080

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epidermodysplasia Verruciformis 4

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 4

Genetic Tests for Epidermodysplasia Verruciformis 4

Genetic tests related to Epidermodysplasia Verruciformis 4:

# Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis, Susceptibility to, 4 29 RHOH

Anatomical Context for Epidermodysplasia Verruciformis 4

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 4:

40
T Cells

Publications for Epidermodysplasia Verruciformis 4

Articles related to Epidermodysplasia Verruciformis 4:

# Title Authors PMID Year
1
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. 6 57
22850876 2012

Variations for Epidermodysplasia Verruciformis 4

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 4:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHOH NM_004310.5(RHOH):c.114C>G (p.Tyr38Ter) SNV risk factor 617610 rs773779601 GRCh37: 4:40245120-40245120
GRCh38: 4:40243500-40243500
2 RHOH NM_004310.5(RHOH):c.391G>A (p.Val131Ile) SNV Uncertain significance 639396 rs372713940 GRCh37: 4:40245397-40245397
GRCh38: 4:40243777-40243777
3 RHOH NC_000004.11:g.(?_40244987)_(40245602_?)dup Duplication Uncertain significance 646961 GRCh37: 4:40244987-40245602
GRCh38: 4:40243367-40243982
4 RHOH NM_004310.5(RHOH):c.537_539del (p.Arg181del) Deletion Uncertain significance 477860 rs757821004 GRCh37: 4:40245541-40245543
GRCh38: 4:40243921-40243923
5 RHOH NM_004310.5(RHOH):c.241A>G (p.Met81Val) SNV Uncertain significance 841724 GRCh37: 4:40245247-40245247
GRCh38: 4:40243627-40243627
6 RHOH NM_004310.5(RHOH):c.33C>T (p.Gly11=) SNV Uncertain significance 942905 GRCh37: 4:40245039-40245039
GRCh38: 4:40243419-40243419
7 RHOH NM_004310.5(RHOH):c.88C>T (p.Pro30Ser) SNV Uncertain significance 944995 GRCh37: 4:40245094-40245094
GRCh38: 4:40243474-40243474
8 RHOH NM_004310.5(RHOH):c.202A>G (p.Ile68Val) SNV Uncertain significance 1015888 GRCh37: 4:40245208-40245208
GRCh38: 4:40243588-40243588
9 RHOH NM_004310.5(RHOH):c.496G>A (p.Ala166Thr) SNV Uncertain significance 1024903 GRCh37: 4:40245502-40245502
GRCh38: 4:40243882-40243882
10 RHOH NM_004310.5(RHOH):c.181G>A (p.Gly61Ser) SNV Uncertain significance 577507 rs1000856485 GRCh37: 4:40245187-40245187
GRCh38: 4:40243567-40243567
11 RHOH NM_004310.5(RHOH):c.42T>C (p.Ala14=) SNV Likely benign 477859 rs114176176 GRCh37: 4:40245048-40245048
GRCh38: 4:40243428-40243428
12 RHOH NM_004310.5(RHOH):c.144T>C (p.Asp48=) SNV Likely benign 477858 rs76788449 GRCh37: 4:40245150-40245150
GRCh38: 4:40243530-40243530
13 RHOH NM_004310.5(RHOH):c.511G>A (p.Val171Ile) SNV Likely benign 710717 rs114085656 GRCh37: 4:40245517-40245517
GRCh38: 4:40243897-40243897
14 RHOH NM_004310.5(RHOH):c.495C>T (p.Cys165=) SNV Likely benign 728435 rs774982598 GRCh37: 4:40245501-40245501
GRCh38: 4:40243881-40243881
15 RHOH NM_004310.5(RHOH):c.510C>G (p.Ala170=) SNV Benign 544156 rs61731758 GRCh37: 4:40245516-40245516
GRCh38: 4:40243896-40243896
16 RHOH NM_004310.5(RHOH):c.510C>T (p.Ala170=) SNV Benign 544157 rs61731758 GRCh37: 4:40245516-40245516
GRCh38: 4:40243896-40243896

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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