MCID: ERY006
MIFTS: 39

Erythrokeratodermia Variabilis malady

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

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Erythrokeratodermia variabilis (also known as \"Erythrokeratodermia figurata variabilis,\" \"Keratosis... more...

MalaCards: Erythrokeratodermia Variabilis, also known as greither disease, 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.

Description from OMIM:47 133200

Aliases & Classifications for Erythrokeratodermia Variabilis

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8Disease Ontology, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 35MeSH
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Classifications:

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


Aliases & Descriptions:

erythrokeratodermia variabilis 8 22 10 45 62
greither disease 8 62
erythrokeratodermia figurata variabilis 8


External Ids:

Disease Ontology8 DOID:0050467
OMIM47 133200
MeSH35 D056266

Related Diseases for Erythrokeratodermia Variabilis

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



Diseases related to erythrokeratodermia variabilis

Symptoms for Erythrokeratodermia Variabilis

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47OMIM
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Clinical features from OMIM:

133200

Drugs & Therapeutics for Erythrokeratodermia Variabilis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Erythrokeratodermia Variabilis

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Erythrokeratodermia Variabilis:

33
Skin

Animal Models for Erythrokeratodermia Variabilis or affiliated genes

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Publications for Erythrokeratodermia Variabilis

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52PubMed
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Articles related to Erythrokeratodermia Variabilis:

(show all 46)
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
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. (11017804)
2000
31
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (9843209)
1998
32
Erythrokeratodermia variabilis present at birth: case report and review of the literature. (8747585)
1995
33
Acitretin in the treatment of erythrokeratodermia variabilis. (2150049)
1990
34
Further evidence for localization of the gene of erythrokeratodermia variabilis. (3417312)
1988
35
Erythrokeratodermia variabilis: immunohistochemical and ultrastructural studies of the epidermis. (2445144)
1987
36
Erythrokeratodermia variabilis treated with isotretinoin. A clinical, histologic, and ultrastructural study. (2420287)
1986
37
Erythrokeratodermia variabilis. (3466575)
1986
38
Genetic linkage between erythrokeratodermia variabilis and Rh locus. (6437964)
1984
39
Epidermal Langerhans cells in erythrokeratodermia variabilis. Histochemical and ultrastructural investigations before and after treatment with etretinate (RO 10-9359). (6187301)
1982
40
Erythrokeratodermia variabilis in a patient followed through the first year of life. (7172743)
1982
41
Treatment of erythrokeratodermia variabilis with oral synthetic retinoids. (6444572)
1980
42
Erythrokeratodermia variabilis. A family study. (147057)
1978
43
Erythrokeratodermia variabilis in a Jewish Kurdish family. (148984)
1978
44
Erythrokeratodermia variabilis. (15461342)
1977
45
Erythrokeratodermia variabilis. An enzyme histochemical and ultrastructural study. (4326389)
1971
46
Erythrokeratodermia variabilis. Report of three cases and review of the literature. (4159396)
1966

Variations for Erythrokeratodermia Variabilis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Erythrokeratodermia Variabilis:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1GJB4NM_153212.2(GJB4): c.409T> C (p.Phe137Leu)single nucleotide variantPathogenicrs80358207GRCh37Chr 1, 35227264: 35227264
2GJB4NM_153212.2(GJB4): c.411C> A (p.Phe137Leu)single nucleotide variantPathogenicrs80358206GRCh37Chr 1, 35227266: 35227266
3GJB4NM_153212.2(GJB4): c.253A> C (p.Thr85Pro)single nucleotide variantPathogenicrs80358210GRCh37Chr 1, 35227108: 35227108
4GJB4NM_153212.2(GJB4): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs80358211GRCh37Chr 1, 35226890: 35226890
5GJB4NM_153212.2(GJB4): c.65G> A (p.Arg22His)single nucleotide variantPathogenicrs80358212GRCh37Chr 1, 35226920: 35226920
6GJB4NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr)single nucleotide variantPathogenicrs80358213GRCh37Chr 1, 35227421: 35227421
7GJB3NM_024009.2(GJB3): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs74315315GRCh37Chr 1, 35250397: 35250397
8GJB3NM_024009.2(GJB3): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs74315316GRCh37Chr 1, 35250398: 35250398
9GJB3NM_024009.2(GJB3): c.256T> A (p.Cys86Ser)single nucleotide variantPathogenicrs74315317GRCh37Chr 1, 35250619: 35250619
10GJB3NM_024009.2(GJB3): c.125G> C (p.Arg42Pro)single nucleotide variantPathogenicrs74315321GRCh37Chr 1, 35250488: 35250488
11GJB3NM_024009.2(GJB3): c.101T> C (p.Leu34Pro)single nucleotide variantPathogenicrs28937583GRCh37Chr 1, 35250464: 35250464

Expression for genes affiliated with Erythrokeratodermia Variabilis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Erythrokeratodermia Variabilis

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis.

Pathways for genes affiliated with Erythrokeratodermia Variabilis

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50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 55Reactome
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Compounds for genes affiliated with Erythrokeratodermia Variabilis

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 11DrugBank, 3BitterDB
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Compounds related to Erythrokeratodermia Variabilis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline459.3LOR, 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
6octanol29 249.5GJB5, GJA4, GJB2, GJB4, GJB3
7carbenoxolone45 29 1110.5GJB5, GJA4, GJB2, GJB4, GJB3
8ca2+298.4GJA4, GJB3, GJB4, GJB5, GJB2
9flufenamic acid29 45 3 1111.2GJB5, GJB2, GJB4, GJA4, GJB3

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:0059219.8GJB3, 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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  • Antibodies
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Sources for Erythrokeratodermia Variabilis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet