EKVP2
MCID: ERY054
MIFTS: 23

Erythrokeratodermia Variabilis Et Progressiva 2 (EKVP2)

Categories: Eye diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 2

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 2:

Name: Erythrokeratodermia Variabilis Et Progressiva 2 57 12 72 29 6
Ekvp2 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
inter- and intrafamilial variability
variable age of onset (early infancy to 6 years)
lesions primarily involve trunk and extremities
lesions worsen with exposure to sunlight (in some patients)
lesions worsen with exposure to cold (uncommon)


HPO:

31
erythrokeratodermia variabilis et progressiva 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080248
OMIM® 57 617524
OMIM Phenotypic Series 57 PS133200
MeSH 44 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 2

OMIM® : 57 Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by Richard et al., 2003). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) (van Steensel et al., 2009). For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). (617524) (Updated 20-May-2021)

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 2, is also known as ekvp2. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 2 is GJB4 (Gap Junction Protein Beta 4). Affiliated tissues include eye, and related phenotypes are palmoplantar keratoderma and erythema

Disease Ontology : 12 An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has material basis in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.

UniProtKB/Swiss-Prot : 72 Erythrokeratodermia variabilis et progressiva 2: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 2

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 2

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 2:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 erythema 31 HP:0010783
3 hypertrichosis 31 HP:0000998

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
migratory erythematous lesions
erythema (rapidly migrating figurate in annular, garland, or spiral pattern--erythema gyratum repens)
hyperkeratotic plaques (well demarcated, symmetric with irregular borders)
palmoplantar keratoderma (uncommon)

Skin Nails Hair Hair:
hypertrichosis (uncommon)

Skin Nails Hair Skin Histology:
hyperkeratosis of epidermis, mild
edema in upper dermis, mild

Clinical features from OMIM®:

617524 (Updated 20-May-2021)

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 2

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 2

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 2

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva 2:

# Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis Et Progressiva 2 29 GJB4

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 2

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva 2:

40
Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 2

Articles related to Erythrokeratodermia Variabilis Et Progressiva 2:

# Title Authors PMID Year
1
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. 57 6
12648223 2003
2
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. 57 6
11017804 2000
3
Erythrokeratodermia variabilis in a Jewish Kurdish family. 57 6
148984 1978
4
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. 57
19291775 2009
5
Genetic linkage between erythrokeratodermia variabilis and Rh locus. 6
6437964 1984

Variations for Erythrokeratodermia Variabilis Et Progressiva 2

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB4 NM_153212.3(GJB4):c.253A>C (p.Thr85Pro) SNV Pathogenic 5006 rs80358210 GRCh37: 1:35227108-35227108
GRCh38: 1:34761507-34761507
2 GJB4 NM_153212.3(GJB4):c.35G>A (p.Gly12Asp) SNV Pathogenic 5007 rs80358211 GRCh37: 1:35226890-35226890
GRCh38: 1:34761289-34761289
3 GJB4 NM_153212.3(GJB4):c.65G>A (p.Arg22His) SNV Pathogenic 5008 rs80358212 GRCh37: 1:35226920-35226920
GRCh38: 1:34761319-34761319
4 GJB4 NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr) SNV Pathogenic 5009 rs80358213 GRCh37: 1:35227421-35227421
GRCh38: 1:34761820-34761820
5 GJB4 NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) SNV Pathogenic 522773 rs148182439 GRCh37: 1:35227241-35227241
GRCh38: 1:34761640-34761640
6 GJB4 NM_153212.3(GJB4):c.384G>A (p.Trp128Ter) SNV Pathogenic 774579 rs149110828 GRCh37: 1:35227239-35227239
GRCh38: 1:34761638-34761638
7 GJB4 NM_153212.3(GJB4):c.409T>C (p.Phe137Leu) SNV Pathogenic 5004 rs80358207 GRCh37: 1:35227264-35227264
GRCh38: 1:34761663-34761663
8 GJB4 NM_153212.3(GJB4):c.411C>A (p.Phe137Leu) SNV Pathogenic 5005 rs80358206 GRCh37: 1:35227266-35227266
GRCh38: 1:34761665-34761665

UniProtKB/Swiss-Prot genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 2:

72
# Symbol AA change Variation ID SNP ID
1 GJB4 p.Phe137Leu VAR_010206 rs80358206
2 GJB4 p.Gly12Asp VAR_079194 rs80358211
3 GJB4 p.Arg22His VAR_079195 rs80358212
4 GJB4 p.Thr85Pro VAR_079196 rs80358210
5 GJB4 p.Phe189Tyr VAR_079197 rs80358213

Expression for Erythrokeratodermia Variabilis Et Progressiva 2

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 2.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 2

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 2

Sources for Erythrokeratodermia Variabilis Et Progressiva 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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