EKVP2
MCID: ERY054
MIFTS: 23

Erythrokeratodermia Variabilis Et Progressiva 2 (EKVP2)

Categories: Eye diseases, Genetic diseases, Rare 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 58 12 76 30 6
Ekvp2 58 76

Characteristics:

OMIM:

58
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)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080248
OMIM 58 617524
MeSH 45 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 2

OMIM : 58 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)

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 2, also known as ekvp2, is related to deafness, autosomal dominant 3a and deafness, autosomal recessive 1a. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 2 is GJB4 (Gap Junction Protein Beta 4). Affiliated tissues include skin and eye, and related phenotypes are palmoplantar keratoderma and erythema

UniProtKB/Swiss-Prot : 76 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

Diseases in the Erythrokeratodermia Variabilis Et Progressiva 1 family:

Erythrokeratodermia Variabilis Et Progressiva 2 Erythrokeratodermia Variabilis Et Progressiva 3
Erythrokeratodermia Variabilis Et Progressiva 4 Erythrokeratodermia Variabilis Et Progressiva 5

Diseases related to Erythrokeratodermia Variabilis Et Progressiva 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 3a 9.6 GJB4 LOC105378642
2 deafness, autosomal recessive 1a 9.5 GJB4 LOC105378642

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 2

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 2:

33
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 33 HP:0000982
2 erythema 33 HP:0010783

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GJB4

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 2

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

42
Skin, Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 2

Articles related to Erythrokeratodermia Variabilis Et Progressiva 2:

# Title Authors Year
1
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. ( 12648223 )
2003
2
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. ( 11017804 )
2000
3
Genetic linkage between erythrokeratodermia variabilis and Rh locus. ( 6437964 )
1984
4
Erythrokeratodermia variabilis in a Jewish Kurdish family. ( 148984 )
1978

Variations for Erythrokeratodermia Variabilis Et Progressiva 2

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

76
# 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

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 2:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB4 NM_153212.2(GJB4): c.409T> C (p.Phe137Leu) single nucleotide variant Pathogenic rs80358207 GRCh37 Chromosome 1, 35227264: 35227264
2 GJB4 NM_153212.2(GJB4): c.409T> C (p.Phe137Leu) single nucleotide variant Pathogenic rs80358207 GRCh38 Chromosome 1, 34761663: 34761663
3 GJB4 NM_153212.2(GJB4): c.411C> A (p.Phe137Leu) single nucleotide variant Pathogenic rs80358206 GRCh37 Chromosome 1, 35227266: 35227266
4 GJB4 NM_153212.2(GJB4): c.411C> A (p.Phe137Leu) single nucleotide variant Pathogenic rs80358206 GRCh38 Chromosome 1, 34761665: 34761665
5 GJB4 NM_153212.2(GJB4): c.253A> C (p.Thr85Pro) single nucleotide variant Pathogenic rs80358210 GRCh37 Chromosome 1, 35227108: 35227108
6 GJB4 NM_153212.2(GJB4): c.253A> C (p.Thr85Pro) single nucleotide variant Pathogenic rs80358210 GRCh38 Chromosome 1, 34761507: 34761507
7 GJB4 NM_153212.2(GJB4): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs80358211 GRCh37 Chromosome 1, 35226890: 35226890
8 GJB4 NM_153212.2(GJB4): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs80358211 GRCh38 Chromosome 1, 34761289: 34761289
9 GJB4 NM_153212.2(GJB4): c.65G> A (p.Arg22His) single nucleotide variant Pathogenic rs80358212 GRCh37 Chromosome 1, 35226920: 35226920
10 GJB4 NM_153212.2(GJB4): c.65G> A (p.Arg22His) single nucleotide variant Pathogenic rs80358212 GRCh38 Chromosome 1, 34761319: 34761319
11 GJB4 NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr) single nucleotide variant Pathogenic rs80358213 GRCh37 Chromosome 1, 35227421: 35227421
12 GJB4 NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr) single nucleotide variant Pathogenic rs80358213 GRCh38 Chromosome 1, 34761820: 34761820

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

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75 UMLS via Orphanet
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