EKVP3
MCID: ERY055
MIFTS: 20

Erythrokeratodermia Variabilis Et Progressiva 3 (EKVP3)

Categories: Eye diseases, Genetic diseases, Rare diseases, Reproductive 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 57 12 72 29 6
Ekvp3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
erythrokeratodermia variabilis et progressiva 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080249
OMIM® 57 617525
OMIM Phenotypic Series 57 PS133200
MeSH 44 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 3

UniProtKB/Swiss-Prot : 72 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

Disease Ontology : 12 An erythrokeratodermia variabilis that is characterized by 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 and that has material basis in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.

OMIM® : 57 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) (Updated 20-May-2021)

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:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 erythema 31 HP:0010783
3 epidermal acanthosis 31 HP:0025092
4 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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:
hypergranulosis
acanthosis
papillomatosis
follicular plugging
compact orthohyperkeratosis with retained nuclei

Clinical features from OMIM®:

617525 (Updated 20-May-2021)

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 29 GJA1

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 3

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

40
Skin, Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 3

Articles related to Erythrokeratodermia Variabilis Et Progressiva 3:

# Title Authors PMID Year
1
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. 57 6
25398053 2015

Variations for Erythrokeratodermia Variabilis Et Progressiva 3

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA1 NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) SNV Pathogenic 203468 rs875989815 GRCh37: 6:121768674-121768674
GRCh38: 6:121447528-121447528
2 GJA1 NM_000165.5(GJA1):c.131C>T (p.Ala44Val) SNV Pathogenic 203469 rs794729675 GRCh37: 6:121768124-121768124
GRCh38: 6:121446978-121446978

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

72
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Ala44Val VAR_075755 rs794729675
2 GJA1 p.Glu227Asp VAR_075756 rs875989815

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
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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