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

Aliases & Descriptions for Erythrokeratodermia Variabilis Et Progressiva:

Name: Erythrokeratodermia Variabilis Et Progressiva 54 50 25 66 13
Erythrokeratodermia Variabilis 12 50 25 56 66 29 52 42 14 69
Greither Disease 12 56 66 69
Ekv 50 25 56 66
Progressive Symmetric Erythrokeratodermia 50 56 66
Ekvp 50 25 66
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 54 66
Keratosis Palmoplantaris Transgrediens Et Progrediens 56 66
Transgrediens Et Progrediens Palmoplantar Keratoderma 56 66
Erythrokeratodermia Variabilis, Mendes Da Costa Type 50 56
Erythrokeratodermia, Progressive Symmetric 50 25
Darier-Gottron Disease 50 56
Psek 50 66
Congenital Familial Erythrokeratodermia Figurata in Plaques 66
Progressive Symmetric Erythrokeratodermia, Gottron Type 56
Progressive Symmetrical Erythrokeratoderma of Gottron 25
Erythrokeratodermia Variabilis Mendes Da Costa Type 66
Erythrokeratodermia Variabilis of Mendes Da Costa 25
Keratosis Extremitatum Hereditaria Progrediens 56
Progressive Diffuse Palmoplantar Keratoderma 56
Progressiva Symmetrica Erythrokeratodermia 50
Erythrokeratodermia Progressiva Symmetrica 56
Erythrokeratodermia Progressive Symmetric 66
Keratoderma Palmoplantaris Transgrediens 69
Erythrokeratodermia Figurata Variabilis 12
Transgrediens Et Progrediens Ppk 56
Progressive Diffuse Ppk 56
Ekv-P 25

Characteristics:

Orphanet epidemiological data:

56
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:

32
erythrokeratodermia variabilis et progressiva:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 133200
Disease Ontology 12 DOID:0050467
MeSH 42 D056266
NCIt 47 C84696
SNOMED-CT 64 254184006 70041004
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 70 C0265961

Summaries for Erythrokeratodermia Variabilis Et Progressiva

OMIM : 54 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 gjb4-related erythrokeratodermia variabilis and gjb3-related erythrokeratodermia variabilis, and has symptoms including joint stiffness, dry skin and diabetes mellitus. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva is GJB3 (Gap Junction Protein Beta 3), and among its related pathways/superpathways are Vesicle-mediated transport and Development Slit-Robo signaling. Affiliated tissues include skin, heart and testis.

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 : 50 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 : 66 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

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

(show all 50)
id Related Disease Score Top Affiliating Genes
1 gjb4-related erythrokeratodermia variabilis 12.1
2 gjb3-related erythrokeratodermia variabilis 12.1
3 mednik syndrome 11.5
4 keratoderma palmoplantaris transgrediens 11.5
5 spinocerebellar ataxia 34 11.1
6 rothmund-thomson syndrome 11.1
7 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10.2 GJA1 GJB2
8 oculodentodigital dysplasia 10.2
9 inflammatory linear verrucous epidermal nevus 10.2
10 leprosy 4 10.1 GJB2 GJB3
11 keratosis palmoplantaris striata iii 10.1 GJB3 LOR
12 hereditary thrombocytosis with transverse limb defect 10.1 GJB2 GJB3 GJB4
13 penttinen-aula syndrome 10.1 GJA1 GJB1
14 lemierre's syndrome 10.1 GJA1 GJB2 LOR
15 ehlers-danlos syndrome, type viib 10.1 GJB2 GJB3 GJB4
16 carotid artery thrombosis 10.1 GJB2 GJB3 LOR
17 mesenchymal chondrosarcoma 10.0 GJA1 GJB2 GJB3
18 x-linked intellectual disability, najm type 10.0 GJB1 GJB2
19 dnase1-related susceptibility to systemic lupus erythematosus 10.0 GJB2 GJB6
20 down syndrome-related congenital heart disease 10.0 GJB2 GJB6
21 spastic ataxia, charlevoix-saguenay type 10.0 GJB2 GJB6
22 pik3ca-related segmental overgrowth 10.0 GJB2 GJB6
23 bietti crystalline corneoretinal dystrophy 10.0 GJB2 GJB6
24 harrod syndrome 10.0 GJA1 GJB1
25 congenital herpes simplex 9.9 GJB2 GJB6
26 bartter syndrome, type 1 9.9 GJB2 GJB6
27 pink1 type of young-onset parkinson disease 9.9 GJB2 GJB3 GJB6
28 ectodermal dysplasia 9.9
29 anodontia 9.9
30 pseudoainhum 9.9
31 deafness, autosomal dominant 2a 9.9 GJB2 GJB6
32 molluscum contagiosum 9.9 GJB2 GJB3 GJB6
33 die smulders droog van dijk syndrome 9.9 GJB2 GJB3 GJB6
34 erythrocytosis due to bisphosphoglycerate mutase deficiency 9.9 GJB2 GJB3 GJB6
35 ectodermal dysplasia 2, clouston type 9.9 GJB2 GJB6 LOR
36 cockayne syndrome 9.9 GJB2 GJB3 GJB6
37 narcissistic personality disorder 9.9 GJB2 GJB3 GJB6
38 obesity susceptibility, adrb3-related 9.9 GJB2 GJB3 GJB6
39 telangiectasia macularis eruptiva perstans 9.8 GJB2 GJB3 GJB6
40 duodenum cancer 9.8 GJB2 GJB3 GJB6
41 hypoplastic left heart syndrome 1 9.8 GJA1 GJA4 GJB2 GJB4 LOR
42 troyer syndrome 9.8 GJA1 GJB2 GJB4 GJB6
43 mitochondrial non-syndromic sensorineural deafness 9.8 GJA1 GJB2 GJB3 GJB6
44 klumpke paralysis 9.8 GJB2 GJB3 GJB4 GJB6
45 x-linked nonsyndromic deafness 9.8 GJA1 GJB2 GJB3 GJB6
46 autoimmune gastrointestinal dysmotility 9.7 GJB2 GJB6
47 keratoderma, palmoplantar, with deafness 9.7 GJB1 GJB2 GJB3 GJB6
48 dementia, familial british 9.6 GJA1 GJB2 GJB3 GJB4 GJB6
49 pseudomyotonia 9.5 GJA1 GJB2 GJB3 GJB4 GJB6 LOR
50 solitary bone cyst 9.5 GJA1 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

Symptoms by clinical synopsis from OMIM:

133200

Clinical features from OMIM:

133200

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Occasional (29-5%) HP:0001387
2 dry skin 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0000958
3 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
4 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
5 intellectual disability 56 32 Occasional (29-5%) HP:0001249
6 hearing impairment 56 32 Occasional (29-5%) HP:0000365
7 cataract 56 32 Frequent (79-30%) HP:0000518
8 corneal opacity 56 32 Occasional (29-5%) HP:0007957
9 microcephaly 56 32 Very frequent (99-80%) HP:0000252
10 short stature 56 32 Very frequent (99-80%) HP:0004322
11 abnormality of the nail 56 32 Occasional (29-5%) HP:0001597
12 generalized hyperkeratosis 56 32 Occasional (29-5%) HP:0005595
13 palmoplantar keratoderma 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000982
14 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
15 weight loss 56 32 Very frequent (99-80%) HP:0001824
16 corneal dystrophy 56 32 Occasional (29-5%) HP:0001131
17 generalized hirsutism 56 32 Occasional (29-5%) HP:0002230
18 protruding ear 56 32 Occasional (29-5%) HP:0000411
19 thin fingernail 56 32 Frequent (79-30%) HP:0012742
20 glaucoma 56 32 Frequent (79-30%) HP:0000501
21 abnormality of the testis 56 32 Occasional (29-5%) HP:0000035
22 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
23 neoplasm of the skin 56 32 Occasional (29-5%) HP:0008069
24 erythema 56 32 Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0010783
25 skin rash 56 32 Very frequent (99-80%) HP:0000988
26 alopecia 56 32 Occasional (29-5%),Frequent (79-30%) HP:0001596
27 cutaneous photosensitivity 56 32 Very frequent (99-80%) HP:0000992
28 hypermelanotic macule 56 32 Very frequent (99-80%) HP:0001034
29 tapered finger 56 32 Occasional (29-5%) HP:0001182
30 skin plaque 56 32 Very frequent (99-80%) HP:0200035
31 patchy palmoplantar keratoderma 56 32 Frequent (79-30%) HP:0005588
32 macule 56 Very frequent (99-80%)
33 hyperkeratosis 56 Very frequent (99-80%)
34 malformation of the heart and great vessels 56 Occasional (29-5%)
35 irregular hyperpigmentation 56 Frequent (79-30%)
36 abnormality of the hair 56 Frequent (79-30%)
37 abnormality of cardiovascular system morphology 32 HP:0030680

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva

Cochrane evidence based reviews: erythrokeratodermia variabilis

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva:

id Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis 29

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva:

39
Skin, Heart, Testis

Publications for Erythrokeratodermia Variabilis Et Progressiva

Articles related to Erythrokeratodermia Variabilis Et Progressiva:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 GJA1 p.Ala44Val VAR_075755 rs794729675
2 GJA1 p.Glu227Asp VAR_075756
3 GJB3 p.Gly12Asp VAR_002147 rs74315316
4 GJB3 p.Gly12Arg VAR_002148 rs74315315
5 GJB3 p.Cys86Ser VAR_002149 rs74315317
6 GJB3 p.Arg42Pro VAR_015085 rs74315321
7 GJB3 p.Phe137Leu VAR_015086
8 GJB4 p.Phe137Leu VAR_010206 rs80358206

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB4 NM_153212.2(GJB4): c.409T> C (p.Phe137Leu) single nucleotide variant Pathogenic rs80358207 GRCh37 Chromosome 1, 35227264: 35227264
2 GJB4 NM_153212.2(GJB4): c.411C> A (p.Phe137Leu) single nucleotide variant Pathogenic rs80358206 GRCh37 Chromosome 1, 35227266: 35227266
3 GJB4 NM_153212.2(GJB4): c.253A> C (p.Thr85Pro) single nucleotide variant Pathogenic rs80358210 GRCh37 Chromosome 1, 35227108: 35227108
4 GJB4 NM_153212.2(GJB4): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs80358211 GRCh37 Chromosome 1, 35226890: 35226890
5 GJB4 NM_153212.2(GJB4): c.65G> A (p.Arg22His) single nucleotide variant Pathogenic rs80358212 GRCh37 Chromosome 1, 35226920: 35226920
6 GJB4 NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr) single nucleotide variant Pathogenic rs80358213 GRCh37 Chromosome 1, 35227421: 35227421
7 GJB3 NM_024009.2(GJB3): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs74315315 GRCh37 Chromosome 1, 35250397: 35250397
8 GJB3 NM_024009.2(GJB3): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs74315316 GRCh37 Chromosome 1, 35250398: 35250398
9 GJB3 NM_024009.2(GJB3): c.256T> A (p.Cys86Ser) single nucleotide variant Pathogenic rs74315317 GRCh37 Chromosome 1, 35250619: 35250619
10 GJB3 NM_024009.2(GJB3): c.125G> C (p.Arg42Pro) single nucleotide variant Pathogenic rs74315321 GRCh37 Chromosome 1, 35250488: 35250488
11 GJB3 NM_024009.2(GJB3): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic rs28937583 GRCh37 Chromosome 1, 35250464: 35250464
12 GJA1 NM_000165.4(GJA1): c.681A> T (p.Glu227Asp) single nucleotide variant Pathogenic rs875989815 GRCh38 Chromosome 6, 121447528: 121447528
13 GJA1 NM_000165.4(GJA1): c.131C> T (p.Ala44Val) single nucleotide variant Pathogenic rs794729675 GRCh37 Chromosome 6, 121768124: 121768124

Expression for Erythrokeratodermia Variabilis Et Progressiva

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

Pathways for Erythrokeratodermia Variabilis Et Progressiva

GO Terms for Erythrokeratodermia Variabilis Et Progressiva

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

id Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.92 ELOVL4 GJA1 GJA4 GJB1 GJB2 GJB3
2 cell junction GO:0030054 9.7 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
3 gap junction GO:0005921 9.5 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
4 lateral plasma membrane GO:0016328 9.26 GJB1 GJB2
5 connexin complex GO:0005922 9.17 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.71 GJA1 GJB1 GJB2 GJB3
2 cell-cell signaling GO:0007267 9.56 GJA1 GJA4 GJB1 GJB2
3 response to lipopolysaccharide GO:0032496 9.54 GJA1 GJB2 GJB6
4 protein oligomerization GO:0051259 9.49 GJA1 GJB1
5 inner ear development GO:0048839 9.48 GJB2 GJB6
6 response to retinoic acid GO:0032526 9.46 GJA1 GJB2
7 response to ischemia GO:0002931 9.43 GJA1 GJB2
8 decidualization GO:0046697 9.32 GJA1 GJB2
9 cell communication GO:0007154 9.17 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
10 endothelium development GO:0003158 9.16 GJA1 GJA4
11 gap junction assembly GO:0016264 9.13 GJA1 GJB1 GJB2

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

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.92 GJA1 GJB1 GJB2 GJB3

Sources for Erythrokeratodermia Variabilis Et Progressiva

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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