MCID: ERY006
MIFTS: 36

Erythrokeratodermia Variabilis malady

Summaries for Erythrokeratodermia Variabilis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Erythrokeratodermia variabilis (also known as \"Erythrokeratodermia figurata variabilis,\" \"Keratosis... more...

MalaCards: Erythrokeratodermia Variabilis, also known as greither disease, is related to skin disease and erythrokeratodermia variabilis et progressiva. 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 Gap junction trafficking. The compounds proline and ca2+ have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:46 133200

Aliases & Classifications for Erythrokeratodermia Variabilis

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8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 46OMIM
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Aliases & Descriptions:

erythrokeratodermia variabilis 8 22 10 44 60
greither disease 8 60
erythrokeratodermia figurata variabilis 8


External Ids:

Disease Ontology8 DOID:0050467
MeSH34 D056266
OMIM46 133200

Related Diseases for Erythrokeratodermia Variabilis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Erythrokeratodermia Variabilis:



Diseases related to erythrokeratodermia variabilis

Clinical Features for Erythrokeratodermia Variabilis

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46OMIM
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Clinical features from OMIM:

133200

Drugs & Therapeutics for Erythrokeratodermia Variabilis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Erythrokeratodermia Variabilis

Drug clinical trials:

Search ClinicalTrials for Erythrokeratodermia Variabilis

Search NIH Clinical Center for Erythrokeratodermia Variabilis

Search CenterWatch for Erythrokeratodermia Variabilis

Genetic Tests for Erythrokeratodermia Variabilis

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Erythrokeratodermia Variabilis:

32
Skin

Animal Models for Erythrokeratodermia Variabilis or affiliated genes

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Publications for Erythrokeratodermia Variabilis

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50PubMed
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Articles related to Erythrokeratodermia Variabilis:

(show all 47)
idTitleAuthorsYear
1
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. (23037955)
2013
2
Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. (23442023)
2013
3
Erythrokeratodermia variabilis: Two case reports. (24350021)
2013
4
A case of erythrokeratodermia variabilis with connexin 31 gene mutation (Cx31F137L). (21913904)
2012
5
Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. (22266302)
2012
6
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. (21950330)
2012
7
A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. (22681493)
2012
8
A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis. (20497287)
2011
9
Erythrokeratodermia variabilis: successful treatment with retinoid plus psoralen and ultraviolet A therapy. (21352304)
2011
10
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. (21879244)
2011
11
Familial erythrokeratodermia variabilis with pustular lesions: a new variant? (20526545)
2010
12
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. (19291775)
2009
13
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. (18482034)
2008
14
Erythrokeratodermia variabilis: successful palliative treatment with acitretin. (19171995)
2008
15
Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex DuprAc erythema. (18060199)
2007
16
The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV). (17446259)
2007
17
Coexistent Takayasu arteritis and erythrokeratodermia variabilis: a case report. (16635177)
2006
18
Erythrokeratodermia variabilis with adult onset: report of a sporadic case unresponsive to systemic retinoids. (16854764)
2006
19
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. (15668823)
2005
20
Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins]. (16372802)
2005
21
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis. (15948974)
2005
22
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. (15086573)
2004
23
Case study: erythrokeratodermia variabilis. (15249788)
2004
24
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. (12648223)
2003
25
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. (14583444)
2003
26
Erythrokeratodermia variabilis. (14594578)
2003
27
Acitretin for erythrokeratodermia variabilis in a 9-year-old girl. (12437552)
2002
28
Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. (12220269)
2002
29
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. (12019212)
2002
30
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. (12176042)
2002
31
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. (11017804)
2000
32
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (9843209)
1998
33
Erythrokeratodermia variabilis present at birth: case report and review of the literature. (8747585)
1995
34
Acitretin in the treatment of erythrokeratodermia variabilis. (2150049)
1990
35
Further evidence for localization of the gene of erythrokeratodermia variabilis. (3417312)
1988
36
Erythrokeratodermia variabilis: immunohistochemical and ultrastructural studies of the epidermis. (2445144)
1987
37
Erythrokeratodermia variabilis treated with isotretinoin. A clinical, histologic, and ultrastructural study. (2420287)
1986
38
Erythrokeratodermia variabilis. (3466575)
1986
39
Genetic linkage between erythrokeratodermia variabilis and Rh locus. (6437964)
1984
40
Epidermal Langerhans cells in erythrokeratodermia variabilis. Histochemical and ultrastructural investigations before and after treatment with etretinate (RO 10-9359). (6187301)
1982
41
Erythrokeratodermia variabilis in a patient followed through the first year of life. (7172743)
1982
42
Treatment of erythrokeratodermia variabilis with oral synthetic retinoids. (6444572)
1980
43
Erythrokeratodermia variabilis. A family study. (147057)
1978
44
Erythrokeratodermia variabilis in a Jewish Kurdish family. (148984)
1978
45
Erythrokeratodermia variabilis. (15461342)
1977
46
Erythrokeratodermia variabilis. An enzyme histochemical and ultrastructural study. (4326389)
1971
47
Erythrokeratodermia variabilis. Report of three cases and review of the literature. (4159396)
1966

Genetic Variations for Erythrokeratodermia Variabilis

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Expression for genes affiliated with Erythrokeratodermia Variabilis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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12EMD Millipore, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion Gap junctions
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9.5GJB2, GJA4, GJB3
2
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8.1GJB4, GJB2, GJA4, GJB5, GJB3, GJB6
38.1GJB6, GJB3, GJB5, GJA4, GJB2, GJB4
48.1GJB6, GJB3, GJB5, GJA4, GJB2, GJB4
58.1GJB6, GJB3, GJB5, GJA4, GJB2, GJB4

Compounds for genes affiliated with Erythrokeratodermia Variabilis

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline449.4GJB2, GJB3, LOR
2ca2+287.8GJC3, GJB6, GJB3, GJB5, GJA4, GJB2
3carbenoxolone28 44 119.8GJB6, GJB3, GJB5, GJA4, GJB2, GJB4
4gap 27597.8GJC3, GJB6, GJB3, GJB5, GJA4, GJB2
5octanol28 248.7GJB4, GJC3, GJB6, GJB3, GJB5, GJA4
6carbenoxolone disodium597.7GJC3, GJB6, GJB3, GJB5, GJA4, GJB2
710panx597.6GJB3, GJB5, GJA4, GJB2, GJB4, GJB6
8flufenamic acid44 28 2 1110.5GJC3, GJB6, GJB3, GJB5, GJA4, GJB2
9scrambled 10panx597.3GJB4, GJC3, GJB6, GJB3, GJB5, GJA4

GO Terms for genes affiliated with Erythrokeratodermia Variabilis

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16Gene Ontology
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Cellular components related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junctionGO:0059219.6GJB4, GJA4, GJB3
2connexon complexGO:0059227.3GJB4, GJC3, GJB6, GJB3, GJB5, GJA4

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076058.8GJB2, GJB3, GJB6, GJC3
2cell communicationGO:0071548.4GJB4, GJB5, GJB3, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.5GJB4, GJB2, GJB3

Products for genes affiliated with Erythrokeratodermia Variabilis

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet