EKVP3
MCID: ERY055
MIFTS: 19

Erythrokeratodermia Variabilis Et Progressiva 3 (EKVP3)

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

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 3

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 3:

Name: Erythrokeratodermia Variabilis Et Progressiva 3 58 12 76 30 6
Ekvp3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
normal skin at birth
onset of skin lesions within the first year of life
erythema induced by heat or stress
hyperpigmentation may progress to near-confluent hyperkeratosis
based on report of 3 unrelated patients (last curated june 2017)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080249
OMIM 58 617525
MeSH 45 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 3

UniProtKB/Swiss-Prot : 76 Erythrokeratodermia variabilis et progressiva 3: 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.

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 3, is also known as ekvp3. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 3 is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include skin and eye, and related phenotypes are palmoplantar keratoderma and erythema

OMIM : 58 Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015). For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). (617525)

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 3

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 3

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 3:

33
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 33 HP:0000982
2 erythema 33 HP:0010783
3 epidermal acanthosis 33 HP:0025092
4 hypergranulosis 33 HP:0025114

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
hyperkeratosis
palmoplantar keratoderma
hyperpigmentation and scaling at frictional surfaces
erythema (migrating transient figurate erythema--erythema gyratum repens)
stinging sensation of erythematous skin
more
Skin Nails Hair Nails:
enlarged porcelain-white lunulae

Skin Nails Hair Skin Histology:
acanthosis
papillomatosis
follicular plugging
hypergranulosis
compact orthohyperkeratosis with retained nuclei

Clinical features from OMIM:

617525

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 3

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 3

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 3

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva 3:

# Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis Et Progressiva 3 30 GJA1

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 3

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva 3:

42
Skin, Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 3

Variations for Erythrokeratodermia Variabilis Et Progressiva 3

UniProtKB/Swiss-Prot genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 3:

76
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Ala44Val VAR_075755 rs794729675
2 GJA1 p.Glu227Asp VAR_075756 rs875989815

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.5(GJA1): c.681A> T (p.Glu227Asp) single nucleotide variant Uncertain significance rs875989815 GRCh38 Chromosome 6, 121447528: 121447528
2 GJA1 NM_000165.5(GJA1): c.681A> T (p.Glu227Asp) single nucleotide variant Uncertain significance rs875989815 GRCh37 Chromosome 6, 121768674: 121768674
3 GJA1 NM_000165.5(GJA1): c.131C> T (p.Ala44Val) single nucleotide variant Pathogenic rs794729675 GRCh37 Chromosome 6, 121768124: 121768124
4 GJA1 NM_000165.5(GJA1): c.131C> T (p.Ala44Val) single nucleotide variant Pathogenic rs794729675 GRCh38 Chromosome 6, 121446978: 121446978

Expression for Erythrokeratodermia Variabilis Et Progressiva 3

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 3.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 3

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 3

Sources for Erythrokeratodermia Variabilis Et Progressiva 3

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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