EKV
MCID: ERY021
MIFTS: 47

Erythrokeratodermia Variabilis Et Progressiva (EKV) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva

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Aliases & Descriptions for Erythrokeratodermia Variabilis Et Progressiva:

Name: Erythrokeratodermia Variabilis Et Progressiva 52 48 25 70 12
Erythrokeratodermia Variabilis 11 48 25 54 70 27 50 39 13 68
Greither Disease 11 54 70 68
Ekv 48 25 54 70
Progressive Symmetric Erythrokeratodermia 48 54 70
Ekvp 48 25 70
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 52 70
Keratosis Palmoplantaris Transgrediens Et Progrediens 54 70
Transgrediens Et Progrediens Palmoplantar Keratoderma 54 70
Erythrokeratodermia Variabilis, Mendes Da Costa Type 48 54
Erythrokeratodermia, Progressive Symmetric 48 25
Darier-Gottron Disease 48 54
Psek 48 70
Congenital Familial Erythrokeratodermia Figurata in Plaques 70
 
Progressive Symmetric Erythrokeratodermia, Gottron Type 54
Progressive Symmetrical Erythrokeratoderma of Gottron 25
Erythrokeratodermia Variabilis Mendes Da Costa Type 70
Erythrokeratodermia Variabilis of Mendes Da Costa 25
Keratosis Extremitatum Hereditaria Progrediens 54
Progressive Diffuse Palmoplantar Keratoderma 54
Erythrokeratodermia Progressiva Symmetrica 54
Progressiva Symmetrica Erythrokeratodermia 48
Erythrokeratodermia Progressive Symmetric 70
Keratoderma Palmoplantaris Transgrediens 68
Erythrokeratodermia Figurata Variabilis 11
Transgrediens Et Progrediens Ppk 54
Progressive Diffuse Ppk 54
Ekv-P 25

Characteristics:

Orphanet epidemiological data:

54
erythrokeratodermia variabilis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
progressive symmetric erythrokeratodermia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
erythrokeratodermia variabilis et progressiva:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 133200
Disease Ontology11 DOID:0050467
MeSH39 D056266
NCIt45 C84696
SNOMED-CT62 254184006, 70041004
ICD10 via Orphanet31 Q82.8
UMLS via Orphanet69 C0265961

Summaries for Erythrokeratodermia Variabilis Et Progressiva

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OMIM:52 The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders... (133200) more...

MalaCards based summary: Erythrokeratodermia Variabilis Et Progressiva, also known as erythrokeratodermia variabilis, is related to gjb3-related erythrokeratodermia variabilis and gjb4-related erythrokeratodermia variabilis, and has symptoms including Array, Array and Array. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva is GJB3 (Gap Junction Protein Beta 3), and among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Transport of connexins along the secretory pathway. Affiliated tissues include skin, testis and heart.

Genetics Home Reference:25 Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. These thickened patches are usually reddish-brown and can either be widespread over many parts of the body or occur only in a small area. They tend to be fixed, meaning they do not spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of thickened skin are generally symmetric, which means they occur in the same places on the right and left sides of the body.

NIH Rare Diseases:48 Erythrokeratodermia variabilis et progressiva is a skin condition characterized by well-defined round or oval red scaly patches that may join together to form map-like patterns. some patches are fixed, occurring most often on the outer surfaces of the arms and legs, while others are migratory - lasting for hours to days and then fading or moving to another location. some skin lesions are accompanied by burning or itching sensations. common triggers include emotional stress, temperature changes, mechanical friction and hot or cold weather. skin lesions often occur during the fist year of life, gradually progress during childhood, and then stabilize during puberty. treatment is aimed at alleviating symptoms and may include topical retinoids or antihistamines.   last updated: 5/21/2012

UniProtKB/Swiss-Prot:70 Erythrokeratodermia variabilis: A genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches 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. Progressive symmetric erythrokeratodermia: Erythrokeratodermas are a group of disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques.

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva

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Diseases related to Erythrokeratodermia Variabilis Et Progressiva via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1gjb3-related erythrokeratodermia variabilis12.1
2gjb4-related erythrokeratodermia variabilis12.1
3mednik syndrome11.5
4keratoderma palmoplantaris transgrediens11.5
5spinocerebellar ataxia 3411.1
6rothmund-thomson syndrome11.1
7cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.2GJA1, GJB2
8oculodentodigital dysplasia10.2
9inflammatory linear verrucous epidermal nevus10.2
10leprosy 410.1GJB2, GJB3
11keratosis palmoplantaris striata iii10.1GJB3, LOR
12hereditary thrombocytosis with transverse limb defect10.1GJB2, GJB3, GJB4
13penttinen-aula syndrome10.1GJA1, GJB1
14lemierre's syndrome10.1GJA1, GJB2, LOR
15ehlers-danlos syndrome, type viib10.1GJB2, GJB3, GJB4
16carotid artery thrombosis10.1GJB2, GJB3, LOR
17mesenchymal chondrosarcoma10.0GJA1, GJB2, GJB3
18x-linked intellectual disability, najm type10.0GJB1, GJB2
19dnase1-related susceptibility to systemic lupus erythematosus10.0GJB2, GJB6
20down syndrome-related congenital heart disease10.0GJB2, GJB6
21spastic ataxia, charlevoix-saguenay type10.0GJB2, GJB6
22pik3ca-related segmental overgrowth10.0GJB2, GJB6
23bietti crystalline corneoretinal dystrophy10.0GJB2, GJB6
24harrod syndrome10.0GJA1, GJB1
25congenital herpes simplex9.9GJB2, GJB6
26bartter syndrome, type 19.9GJB2, GJB6
27pink1 type of young-onset parkinson disease9.9GJB2, GJB3, GJB6
28ectodermal dysplasia9.9
29anodontia9.9
30pseudoainhum9.9
31deafness, autosomal dominant 2a9.9GJB2, GJB6
32molluscum contagiosum9.9GJB2, GJB3, GJB6
33die smulders droog van dijk syndrome9.9GJB2, GJB3, GJB6
34erythrocytosis due to bisphosphoglycerate mutase deficiency9.9GJB2, GJB3, GJB6
35ectodermal dysplasia 2, clouston type9.9GJB2, GJB6, LOR
36cockayne syndrome9.9GJB2, GJB3, GJB6
37narcissistic personality disorder9.9GJB2, GJB3, GJB6
38obesity susceptibility, adrb3-related9.9GJB2, GJB3, GJB6
39telangiectasia macularis eruptiva perstans9.8GJB2, GJB3, GJB6
40duodenum cancer9.8GJB2, GJB3, GJB6
41hypoplastic left heart syndrome 19.8GJA1, GJA4, GJB2, GJB4, LOR
42troyer syndrome9.8GJA1, GJB2, GJB4, GJB6
43mitochondrial non-syndromic sensorineural deafness9.8GJA1, GJB2, GJB3, GJB6
44klumpke paralysis9.8GJB2, GJB3, GJB4, GJB6
45x-linked nonsyndromic deafness9.8GJA1, GJB2, GJB3, GJB6
46autoimmune gastrointestinal dysmotility9.7GJB2, GJB6
47keratoderma, palmoplantar, with deafness9.7GJB1, GJB2, GJB3, GJB6
48dementia, familial british9.6GJA1, GJB2, GJB3, GJB4, GJB6
49pseudomyotonia9.5GJA1, GJB2, GJB3, GJB4, GJB6, LOR
50solitary bone cyst9.5GJA1, GJB2, GJB3, GJB4, GJB6, LOR

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



Diseases related to erythrokeratodermia variabilis et progressiva

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva

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Symptoms by clinical synopsis from OMIM:

133200

Clinical features from OMIM:

133200

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva:

 54 64 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin64 54 Very frequent (99-80%) HP:0000958
2 hyperhidrosis64 54 Frequent (79-30%) HP:0000975
3 palmoplantar keratoderma64 54 Very frequent (99-80%) HP:0000982
4 corneal dystrophy64 54 Occasional (29-5%) HP:0001131
5 joint stiffness64 54 Occasional (29-5%) HP:0001387
6 alopecia64 54 Occasional (29-5%) HP:0001596
7 generalized hyperkeratosis64 54 Occasional (29-5%) HP:0005595
8 erythema64 54 Frequent (79-30%) HP:0010783
9 thin fingernail64 54 Frequent (79-30%) HP:0012742
10 microcephaly64 54 Very frequent (99-80%) HP:0000252
11 hearing impairment64 54 Occasional (29-5%) HP:0000365
12 protruding ear64 54 Occasional (29-5%) HP:0000411
13 glaucoma64 54 Frequent (79-30%) HP:0000501
14 cataract64 54 Frequent (79-30%) HP:0000518
15 skin rash64 54 Very frequent (99-80%) HP:0000988
16 cutaneous photosensitivity64 54 Very frequent (99-80%) HP:0000992
17 hypermelanotic macule64 54 Very frequent (99-80%) HP:0001034
18 brachydactyly syndrome64 54 Occasional (29-5%) HP:0001156
19 tapered finger64 54 Occasional (29-5%) HP:0001182
20 abnormality of the hair54 Frequent (79-30%)
21 abnormality of the nail64 54 Occasional (29-5%) HP:0001597
22 weight loss64 54 Very frequent (99-80%) HP:0001824
23 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
24 malformation of the heart and great vessels54 Occasional (29-5%)
25 short stature64 54 Very frequent (99-80%) HP:0004322
26 abnormal blistering of the skin64 54 Very frequent (99-80%) HP:0008066
27 neoplasm of the skin64 54 Occasional (29-5%) HP:0008069
28 macule54 Very frequent (99-80%)
29 abnormality of the testis64 54 Occasional (29-5%) HP:0000035
30 diabetes mellitus64 54 Frequent (79-30%) HP:0000819
31 hyperkeratosis54 Very frequent (99-80%)
32 intellectual disability64 54 Occasional (29-5%) HP:0001249
33 patchy palmoplantar keratoderma64 54 Frequent (79-30%) HP:0005588
34 irregular hyperpigmentation54 Frequent (79-30%)
35 corneal opacity64 54 Occasional (29-5%) HP:0007957
36 skin plaque64 54 Very frequent (99-80%) HP:0200035
37 abnormality of cardiovascular system morphology64 HP:0030680

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva


Cochrane evidence based reviews: erythrokeratodermia variabilis

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva

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Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva:

id Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis27

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva

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MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva:

36
Skin, Testis, Heart

Publications for Erythrokeratodermia Variabilis Et Progressiva

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Articles related to Erythrokeratodermia Variabilis Et Progressiva:

idTitleAuthorsYear
1
Erythrokeratodermia variabilis et progressiva. (26945536)
2016
2
Inflammatory linear verrucous epidermal nevus with a postzygotic GJA1 mutation is a mosaic erythrokeratodermia variabilis et progressiva. (27890787)
2016
3
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. (25964267)
2015
4
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. (25398053)
2014

Variations for Erythrokeratodermia Variabilis Et Progressiva

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

70
id Symbol AA change Variation ID SNP ID
1GJA1p.Ala44ValVAR_075755rs794729675
2GJA1p.Glu227AspVAR_075756
3GJB3p.Gly12AspVAR_002147rs74315316
4GJB3p.Gly12ArgVAR_002148rs74315315
5GJB3p.Cys86SerVAR_002149rs74315317
6GJB3p.Arg42ProVAR_015085rs74315321
7GJB3p.Phe137LeuVAR_015086
8GJB4p.Phe137LeuVAR_010206rs80358206

Clinvar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1GJA1NM_ 000165.4(GJA1): c.681A> T (p.Glu227Asp)SNVPathogenicrs875989815GRCh38Chr 6, 121447528: 121447528
2GJA1NM_ 000165.4(GJA1): c.131C> T (p.Ala44Val)SNVPathogenicrs794729675GRCh37Chr 6, 121768124: 121768124
3GJB4NM_ 153212.2(GJB4): c.409T> C (p.Phe137Leu)SNVPathogenicrs80358207GRCh37Chr 1, 35227264: 35227264
4GJB4NM_ 153212.2(GJB4): c.411C> A (p.Phe137Leu)SNVPathogenicrs80358206GRCh37Chr 1, 35227266: 35227266
5GJB4NM_ 153212.2(GJB4): c.253A> C (p.Thr85Pro)SNVPathogenicrs80358210GRCh37Chr 1, 35227108: 35227108
6GJB4NM_ 153212.2(GJB4): c.35G> A (p.Gly12Asp)SNVPathogenicrs80358211GRCh37Chr 1, 35226890: 35226890
7GJB4NM_ 153212.2(GJB4): c.65G> A (p.Arg22His)SNVPathogenicrs80358212GRCh37Chr 1, 35226920: 35226920
8GJB4NM_ 153212.2(GJB4): c.566T> A (p.Phe189Tyr)SNVPathogenicrs80358213GRCh37Chr 1, 35227421: 35227421
9GJB3NM_ 024009.2(GJB3): c.34G> C (p.Gly12Arg)SNVPathogenicrs74315315GRCh37Chr 1, 35250397: 35250397
10GJB3NM_ 024009.2(GJB3): c.35G> A (p.Gly12Asp)SNVPathogenicrs74315316GRCh37Chr 1, 35250398: 35250398
11GJB3NM_ 024009.2(GJB3): c.256T> A (p.Cys86Ser)SNVPathogenicrs74315317GRCh37Chr 1, 35250619: 35250619
12GJB3NM_ 024009.2(GJB3): c.125G> C (p.Arg42Pro)SNVPathogenicrs74315321GRCh37Chr 1, 35250488: 35250488
13GJB3NM_ 024009.2(GJB3): c.101T> C (p.Leu34Pro)SNVPathogenicrs28937583GRCh37Chr 1, 35250464: 35250464

Expression for genes affiliated with Erythrokeratodermia Variabilis Et Progressiva

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Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva.

Pathways for genes affiliated with Erythrokeratodermia Variabilis Et Progressiva

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GO Terms for genes affiliated with Erythrokeratodermia Variabilis Et Progressiva

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Cellular components related to Erythrokeratodermia Variabilis Et Progressiva according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.4GJB1, GJB2
2cell junctionGO:00300548.0GJA1, GJA4, GJB1, GJB2, GJB3, GJB4
3connexin complexGO:00059228.0GJA1, GJA4, GJB1, GJB2, GJB3, GJB4
4gap junctionGO:00059218.0GJA1, GJA4, GJB1, GJB2, GJB3, GJB4
5integral component of membraneGO:00160217.1ELOVL4, GJA1, GJA4, GJB1, GJB2, GJB3

Biological processes related to Erythrokeratodermia Variabilis Et Progressiva according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1endothelium developmentGO:000315810.4GJA1, GJA4
2decidualizationGO:004669710.4GJA1, GJB2
3response to ischemiaGO:000293110.4GJA1, GJB2
4response to retinoic acidGO:003252610.3GJA1, GJB2
5protein oligomerizationGO:005125910.2GJA1, GJB1
6inner ear developmentGO:00488399.9GJB2, GJB6
7gap junction assemblyGO:00162649.8GJA1, GJB1, GJB2
8response to lipopolysaccharideGO:00324969.5GJA1, GJB2, GJB6
9cell-cell signalingGO:00072679.3GJA1, GJA4, GJB1, GJB2
10transmembrane transportGO:00550858.8GJA1, GJB1, GJB2, GJB3
11cell communicationGO:00071547.9GJA1, GJA4, GJB1, GJB2, GJB3, GJB4

Molecular functions related to Erythrokeratodermia Variabilis Et Progressiva according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052438.8GJA1, GJB1, GJB2, GJB3

Sources for Erythrokeratodermia Variabilis Et Progressiva

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet