MCID: ERY021
MIFTS: 48

Erythrokeratodermia Variabilis Et Progressiva 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 50 46 24 68 12
Erythrokeratodermia Variabilis 11 46 24 13 52 68 25 48 37 66
Greither Disease 11 52 68 66
Ekv 46 24 52 68
Progressive Symmetric Erythrokeratodermia 46 52 68
Ekvp 46 24 68
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 50 68
Transgrediens Et Progrediens Palmoplantar Keratoderma 52 68
Keratosis Palmoplantaris Transgrediens Et Progrediens 52 68
Erythrokeratodermia Variabilis, Mendes Da Costa Type 46 52
Erythrokeratodermia, Progressive Symmetric 46 24
Darier-Gottron Disease 46 52
Psek 46 68
Congenital Familial Erythrokeratodermia Figurata in Plaques 68
 
Progressive Symmetric Erythrokeratodermia, Gottron Type 52
Progressive Symmetrical Erythrokeratoderma of Gottron 24
Erythrokeratodermia Variabilis Mendes Da Costa Type 68
Erythrokeratodermia Variabilis of Mendes Da Costa 24
Keratosis Extremitatum Hereditaria Progrediens 52
Progressive Diffuse Palmoplantar Keratoderma 52
Erythrokeratodermia Progressiva Symmetrica 52
Progressiva Symmetrica Erythrokeratodermia 46
Erythrokeratodermia Progressive Symmetric 68
Keratoderma Palmoplantaris Transgrediens 66
Erythrokeratodermia Figurata Variabilis 11
Transgrediens Et Progrediens Ppk 52
Progressive Diffuse Ppk 52
Ekv-P 24

Characteristics:

Orphanet epidemiological data:

52
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:

62
erythrokeratodermia variabilis et progressiva:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 133200
Disease Ontology11 DOID:0050467
MeSH37 D056266
NCIt43 C84696
SNOMED-CT60 254184006, 70041004
ICD10 via Orphanet29 Q82.8
UMLS via Orphanet67 C0265961

Summaries for Erythrokeratodermia Variabilis Et Progressiva

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OMIM:50 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 microcephaly, dry skin and skin rash. 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:24 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:46 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:68 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1gjb3-related erythrokeratodermia variabilis12.2
2gjb4-related erythrokeratodermia variabilis12.2
3mednik syndrome11.6
4keratoderma palmoplantaris transgrediens11.6
5rothmund-thomson syndrome11.2
6chromosome 6pter-p24 deletion syndrome10.5GFER, GJA1
7craniometaphyseal dysplasia, autosomal recessive10.5GFER, GJA1
8atrioventricular septal defect 310.4GFER, GJA1
9oculodentodigital dysplasia, autosomal recessive10.4GFER, GJA1
10palmoplantar keratoderma with congenital alopecia10.4GFER, GJA1
11hypoplastic left heart syndrome 110.4GFER, GJA1
12oculodentodigital dysplasia10.3
13hystrix-like ichthyosis with deafness10.3GJA1, GJB2
14non-hypoproteinemic hypertrophic gastropathy10.2GJB2, GJB3, GJB4
15spastic paraplegia 50, autosomal recessive10.1GJB2, GJB3, GJB4
16ectodermal dysplasia10.0
17anodontia10.0
18pseudoainhum10.0
19pelvic dysplasia arthrogryposis of lower limbs10.0GJA1, GJB1
20congenital nephrotic syndrome finnish type9.9GJB1, GJB2
21nonsyndromic hearing loss and deafness, mitochondrial9.9GJB2, GJB6
22myocardial infarction 29.9GJB2, GJB6
23hallux varus and preaxial polysyndactyly9.9GJA1, GJB1
24noonan syndrome with multiple lentigines9.7GJB2, GJB3, GJB6
25continuous spike-wave during slow sleep syndrome9.6GJB2, GJB3, GJB6
26sublingual gland cancer9.6GJB2, GJB3, GJB6
27nonsyndromic hearing loss and deafness, autosomal recessive9.6GJB2, GJB3, GJB6
28self-healing papular mucinosis9.6GJB2, GJB3, GJB6
29dihydrolipoamide dehydrogenase deficiency9.6GJB2, GJB3, GJB6
30hyperimmunoglobulin syndrome9.6GJB2, GJB3, GJB6
31pyelitis9.6GJB2, GJB3, GJB6
32thumb deformity, alopecia, pigmentation anomaly9.6GJB2, GJB6
33cerebral artery occlusion9.6GJB2, GJB6
34ectodermal dysplasia 2, clouston type9.6GJB2, GJB6, LOR
35autosomal recessive nonsyndromic deafness9.5GJB2, GJB3, GJB6
36localized lichen myxedematosus with mixed features of different subtypes9.4GJA1, GJB2, GJB3, GJB6
37troyer syndrome9.4GJA1, GJB2, GJB4, GJB6
38punctate palmoplantar keratoderma type 29.4GJB2, GJB3, GJB4, GJB6
39dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia9.3GJB2, GJB6
40dementia, familial british9.1GJA1, GJB2, GJB3, GJB4, GJB6
41deafness, autosomal dominant 3a9.1GJB1, GJB2, GJB3, GJB6
42small non-cleaved cell lymphoma9.0GJB2, GJB3, GJB4, GJB6, LOR
43pseudohermaphrodism anorectal anomalies8.7GJA1, GJB2, GJB3, GJB4, GJB6, LOR
44syndactyly, type iii8.2GFER, GJA1, GJA4, GJB1, GJB2, GJB3
45erythrokeratodermia variabilis et progressiva6.4ANKK1, ELOVL4, GFER, GJA1, GJA4, GJB1

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



Diseases related to erythrokeratodermia variabilis et progressiva

Symptoms for Erythrokeratodermia Variabilis Et Progressiva

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Symptoms by clinical synopsis from OMIM:

133200

Clinical features from OMIM:

133200

Symptoms:

 52 (show all 36)
  • dry skin
  • hyperhidrosis
  • palmoplantar keratoderma
  • corneal dystrophy
  • joint stiffness
  • alopecia
  • generalized hyperkeratosis
  • erythema
  • thin fingernail
  • microcephaly
  • hearing impairment
  • protruding ear
  • glaucoma
  • cataract
  • skin rash
  • cutaneous photosensitivity
  • hypermelanotic macule
  • brachydactyly syndrome
  • tapered finger
  • abnormality of the hair
  • abnormality of the nail
  • weight loss
  • generalized hirsutism
  • malformation of the heart and great vessels
  • short stature
  • abnormal blistering of the skin
  • neoplasm of the skin
  • macule
  • abnormality of the testis
  • diabetes mellitus
  • hyperkeratosis
  • intellectual disability
  • patchy palmoplantar keratoderma
  • irregular hyperpigmentation
  • corneal opacity
  • skin plaque

HPO human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva:

(show all 31)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 dry skin hallmark (90%) HP:0000958
3 skin rash hallmark (90%) HP:0000988
4 cutaneous photosensitivity hallmark (90%) HP:0000992
5 hypermelanotic macule hallmark (90%) HP:0001034
6 weight loss hallmark (90%) HP:0001824
7 short stature hallmark (90%) HP:0004322
8 abnormal blistering of the skin hallmark (90%) HP:0008066
9 palmoplantar keratoderma hallmark (90%) HP:0000982
10 glaucoma typical (50%) HP:0000501
11 cataract typical (50%) HP:0000518
12 diabetes mellitus typical (50%) HP:0000819
13 dry skin typical (50%) HP:0000958
14 hyperhidrosis typical (50%) HP:0000975
15 abnormality of the fingernails typical (50%) HP:0001231
16 alopecia typical (50%) HP:0001596
17 abnormality of the testis occasional (7.5%) HP:0000035
18 hearing impairment occasional (7.5%) HP:0000365
19 abnormality of the pinna occasional (7.5%) HP:0000377
20 hypertrichosis occasional (7.5%) HP:0000998
21 corneal dystrophy occasional (7.5%) HP:0001131
22 brachydactyly syndrome occasional (7.5%) HP:0001156
23 tapered finger occasional (7.5%) HP:0001182
24 limitation of joint mobility occasional (7.5%) HP:0001376
25 alopecia occasional (7.5%) HP:0001596
26 opacification of the corneal stroma occasional (7.5%) HP:0007759
27 neoplasm of the skin occasional (7.5%) HP:0008069
28 cognitive impairment occasional (7.5%) HP:0100543
29 patchy palmoplantar keratoderma HP:0005588
30 generalized hyperkeratosis HP:0005595
31 erythema HP:0010783

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 Variabilis25

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva

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MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva:

34
Skin, Testis, Heart

Animal Models for Erythrokeratodermia Variabilis Et Progressiva or affiliated genes

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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
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. (25964267)
2015
3
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:

68
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
1GJA1NG_008308.1: g.16930A> Tsingle nucleotide variantPathogenicrs875989815GRCh38Chr 6, 121447528: 121447528
2GJA1NM_000165.4(GJA1): c.131C> T (p.Ala44Val)single nucleotide variantPathogenicrs794729675GRCh38Chr 6, 121446978: 121446978
3GJB4NM_153212.2(GJB4): c.409T> C (p.Phe137Leu)single nucleotide variantPathogenicrs80358207GRCh37Chr 1, 35227264: 35227264
4GJB4NM_153212.2(GJB4): c.411C> A (p.Phe137Leu)single nucleotide variantPathogenicrs80358206GRCh37Chr 1, 35227266: 35227266
5GJB4NM_153212.2(GJB4): c.253A> C (p.Thr85Pro)single nucleotide variantPathogenicrs80358210GRCh37Chr 1, 35227108: 35227108
6GJB4NM_153212.2(GJB4): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs80358211GRCh37Chr 1, 35226890: 35226890
7GJB4NM_153212.2(GJB4): c.65G> A (p.Arg22His)single nucleotide variantPathogenicrs80358212GRCh37Chr 1, 35226920: 35226920
8GJB4NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr)single nucleotide variantPathogenicrs80358213GRCh37Chr 1, 35227421: 35227421
9GJB3NM_024009.2(GJB3): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs74315315GRCh37Chr 1, 35250397: 35250397
10GJB3NM_024009.2(GJB3): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs74315316GRCh37Chr 1, 35250398: 35250398
11GJB3NM_024009.2(GJB3): c.256T> A (p.Cys86Ser)single nucleotide variantPathogenicrs74315317GRCh37Chr 1, 35250619: 35250619
12GJB3NM_024009.2(GJB3): c.125G> C (p.Arg42Pro)single nucleotide variantPathogenicrs74315321GRCh37Chr 1, 35250488: 35250488
13GJB3NM_024009.2(GJB3): c.101T> C (p.Leu34Pro)single nucleotide variantPathogenicrs28937583GRCh37Chr 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:00163289.7GJA1, GJB2
2connexin complexGO:00059227.7GJA1, GJA4, GJB1, GJB2, GJB3, GJB4
3gap junctionGO:00059217.5GJA1, GJA4, GJB1, GJB2, GJB3, GJB6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1endothelium developmentGO:000315810.3GJA1, GJA4
2gap junction assemblyGO:00162649.4GJA1, GJB1, GJB2
3cell communicationGO:00071549.1GJA1, GJB3, GJB4, GJB6
4sensory perception of soundGO:00076058.9GJB2, GJB3, GJB6
5transmembrane transportGO:00550858.9GJA1, GJB1, GJB2, GJB3
6transportGO:00068108.8GJA1, GJA4, GJB1, GJB2
7cell-cell signalingGO:00072678.6GJA1, GJA4, GJB1, GJB2

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet