MCID: ERY006
MIFTS: 40

Erythrokeratodermia Variabilis malady

Genetic diseases (common), Skin diseases categories
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Summaries for Erythrokeratodermia Variabilis

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Wikipedia:65 Erythrokeratodermia variabilis (also known as \"Erythrokeratodermia figurata variabilis,\" \"Keratosis... more...

MalaCards based summary: Erythrokeratodermia Variabilis, also known as erythrokeratodermia figurata variabilis, is related to skin disease and keratoderma. An important gene associated with Erythrokeratodermia Variabilis is GJB3 (gap junction protein, beta 3, 31kDa), and among its related pathways are Cell adhesion Gap junctions and Myometrial Relaxation and Contraction Pathways. The compounds proline and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include skin and breast.

Description from OMIM:46 133200

Aliases & Classifications for Erythrokeratodermia Variabilis

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Sources:
8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 62UMLS, 34MeSH, 46OMIM
See all sources

Erythrokeratodermia Variabilis, Aliases & Descriptions:

Name: Erythrokeratodermia Variabilis 8 22 10 44 62
Erythrokeratodermia Figurata Variabilis 8 62
 
Greither Disease 8 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Skin diseases


External Ids:

Disease Ontology8 DOID:0050467
MeSH34 D056266
OMIM46 133200

Related Diseases for Erythrokeratodermia Variabilis

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Graphical network of the top 20 diseases related to Erythrokeratodermia Variabilis:



Diseases related to erythrokeratodermia variabilis

Symptoms for Erythrokeratodermia Variabilis

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Clinical features from OMIM:

133200

Drugs & Therapeutics for Erythrokeratodermia Variabilis

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Drug clinical trials:

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Search NIH Clinical Center for Erythrokeratodermia Variabilis

Genetic Tests for Erythrokeratodermia Variabilis

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Genetic tests related to Erythrokeratodermia Variabilis:

id Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis22

Anatomical Context for Erythrokeratodermia Variabilis

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MalaCards organs/tissues related to Erythrokeratodermia Variabilis:

32
Skin, Breast

Animal Models for Erythrokeratodermia Variabilis or affiliated genes

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Publications for Erythrokeratodermia Variabilis

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Articles related to Erythrokeratodermia Variabilis:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Both low-dose arotinoid ethylester and acitretin are effective in the treatment of familial erythrokeratodermia variabilis. (24754264)
2014
2
A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative. (25297803)
2014
3
Radiotherapy for breast cancer and erythrokeratodermia variabilis. (25306447)
2014
4
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. (25398053)
2014
5
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. (23037955)
2013
6
Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. (23442023)
2013
7
Erythrokeratodermia variabilis: Two case reports. (24350021)
2013
8
A case of erythrokeratodermia variabilis with connexin 31 gene mutation (Cx31F137L). (21913904)
2012
9
Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. (22266302)
2012
10
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. (21950330)
2012
11
A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. (22681493)
2012
12
A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis. (20497287)
2011
13
Erythrokeratodermia variabilis: successful treatment with retinoid plus psoralen and ultraviolet A therapy. (21352304)
2011
14
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. (21879244)
2011
15
Familial erythrokeratodermia variabilis with pustular lesions: a new variant? (20526545)
2010
16
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. (19291775)
2009
17
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. (18482034)
2008
18
Erythrokeratodermia variabilis: successful palliative treatment with acitretin. (19171995)
2008
19
Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex DuprAc erythema. (18060199)
2007
20
The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV). (17446259)
2007
21
Coexistent Takayasu arteritis and erythrokeratodermia variabilis: a case report. (16635177)
2006
22
Erythrokeratodermia variabilis with adult onset: report of a sporadic case unresponsive to systemic retinoids. (16854764)
2006
23
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. (15668823)
2005
24
Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins]. (16372802)
2005
25
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis. (15948974)
2005
26
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. (15086573)
2004
27
Case study: erythrokeratodermia variabilis. (15249788)
2004
28
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. (12648223)
2003
29
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. (14583444)
2003
30
Erythrokeratodermia variabilis. (14594578)
2003
31
Acitretin for erythrokeratodermia variabilis in a 9-year-old girl. (12437552)
2002
32
Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. (12220269)
2002
33
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. (12019212)
2002
34
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. (12176042)
2002
35
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. (11017804)
2000
36
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (9843209)
1998
37
Erythrokeratodermia variabilis present at birth: case report and review of the literature. (8747585)
1995
38
Acitretin in the treatment of erythrokeratodermia variabilis. (2150049)
1990
39
Further evidence for localization of the gene of erythrokeratodermia variabilis. (3417312)
1988
40
Erythrokeratodermia variabilis: immunohistochemical and ultrastructural studies of the epidermis. (2445144)
1987
41
Erythrokeratodermia variabilis treated with isotretinoin. A clinical, histologic, and ultrastructural study. (2420287)
1986
42
Erythrokeratodermia variabilis. (3466575)
1986
43
Genetic linkage between erythrokeratodermia variabilis and Rh locus. (6437964)
1984
44
Epidermal Langerhans cells in erythrokeratodermia variabilis. Histochemical and ultrastructural investigations before and after treatment with etretinate (RO 10-9359). (6187301)
1982
45
Treatment of erythrokeratodermia variabilis with oral synthetic retinoids. (6444572)
1980
46
Erythrokeratodermia variabilis. A family study. (147057)
1978
47
Erythrokeratodermia variabilis in a Jewish Kurdish family. (148984)
1978
48
Erythrokeratodermia variabilis. (15461342)
1977
49
Erythrokeratodermia variabilis. An enzyme histochemical and ultrastructural study. (4326389)
1971
50
Erythrokeratodermia variabilis. Report of three cases and review of the literature. (4159396)
1966

Variations for Erythrokeratodermia Variabilis

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Expression for genes affiliated with Erythrokeratodermia Variabilis

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Expression patterns in normal tissues for genes affiliated with Erythrokeratodermia Variabilis

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Pathways for genes affiliated with Erythrokeratodermia Variabilis

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Compounds for genes affiliated with Erythrokeratodermia Variabilis

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Compounds related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline449.3LOR, GJB3, GJB2
2gap 27618.7GJA4, GJB3, GJB4, GJB2, GJB5
310panx618.6GJB4, GJB2, GJA4, GJB5, GJB3
4scrambled 10panx618.6GJB3, GJB4, GJB2, GJB5, GJA4
5carbenoxolone disodium618.6GJB3, GJB4, GJB2, GJA4, GJB5
6octanol28 249.5GJB5, GJA4, GJB2, GJB4, GJB3
7carbenoxolone44 28 1110.5GJB5, GJA4, GJB2, GJB4, GJB3
8ca2+288.4GJA4, GJB3, GJB4, GJB5, GJB2
9flufenamic acid28 44 2 1111.2GJB5, GJB2, GJB4, GJA4, GJB3

GO Terms for genes affiliated with Erythrokeratodermia Variabilis

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Cellular components related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junctionGO:0059219.8GJB3, GJA4
2connexon complexGO:0059228.2GJB3, GJB4, GJB2, GJA4, GJB5

Biological processes related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076059.4GJB3, GJB2
2membrane organizationGO:0610249.4GJB2, AP1S1
3cell communicationGO:0071549.2GJB3, GJB4, GJB5

Molecular functions related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.7GJB3, GJB2

Products for genes affiliated with Erythrokeratodermia Variabilis

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Sources for Erythrokeratodermia Variabilis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet