MCID: ERY055
MIFTS: 17

Erythrokeratodermia Variabilis Et Progressiva 3

Categories: Genetic diseases, Skin diseases, Rare 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 75 29 6
Ekvp3 57 75

Characteristics:

OMIM:

57
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:

OMIM 57 617525
Disease Ontology 12 DOID:0080249
MeSH 44 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 3

UniProtKB/Swiss-Prot : 75 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.

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)

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 3

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperpigmentation and scaling at frictional surfaces
hyperkeratosis
palmoplantar keratoderma
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:
follicular plugging
papillomatosis
acanthosis
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 29 GJA1

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 3

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

41
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:

75
# 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_000165.4(GJA1): c.681A> T (p.Glu227Asp) single nucleotide variant Pathogenic rs875989815 GRCh38 Chromosome 6, 121447528: 121447528
2 GJA1 NM_000165.4(GJA1): c.681A> T (p.Glu227Asp) single nucleotide variant Pathogenic rs875989815 GRCh37 Chromosome 6, 121768674: 121768674
3 GJA1 NM_000165.4(GJA1): c.131C> T (p.Ala44Val) single nucleotide variant Pathogenic rs794729675 GRCh37 Chromosome 6, 121768124: 121768124
4 GJA1 NM_000165.4(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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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