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 49 11 45 23 67
Erythrokeratodermia Variabilis 10 45 23 47 12 51 67 36 24 65
Ekv 45 23 51 67
Progressive Symmetric Erythrokeratodermia 45 51 67
Greither Disease 10 67 65
Ekvp 45 23 67
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 49 67
Erythrokeratodermia Variabilis, Mendes Da Costa Type 45 51
Erythrokeratodermia, Progressive Symmetric 45 23
Darier-Gottron Disease 45 51
Psek 45 67
Congenital Familial Erythrokeratodermia Figurata in Plaques 67
Progressive Symmetric Erythrokeratodermia, Gottron Type 51
Keratosis Palmoplantaris Transgrediens Et Progrediens 67
Progressive Symmetrical Erythrokeratoderma of Gottron 23
Transgrediens Et Progrediens Palmoplantar Keratoderma 67
Erythrokeratodermia Variabilis Mendes Da Costa Type 67
Erythrokeratodermia Variabilis of Mendes Da Costa 23
Progressiva Symmetrica Erythrokeratodermia 45
Erythrokeratodermia Progressiva Symmetrica 51
Erythrokeratodermia Progressive Symmetric 67
Keratoderma Palmoplantaris Transgrediens 65
Erythrokeratodermia Figurata Variabilis 10
Ekv-P 23


Orphanet epidemiological data:

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


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


Orphanet: 51 
Rare skin diseases

External Ids:

OMIM49 133200
Disease Ontology10 DOID:0050467
NCIt42 C84696
SNOMED-CT59 254184006, 70041004
Orphanet51 317, 316
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0265961
UMLS65 C0265961, C1851480, C1851479

Summaries for Erythrokeratodermia Variabilis Et Progressiva

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OMIM:49 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 abnormal blistering of the skin, short stature and weight loss. 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 Oligomerization of connexins into connexons. Affiliated tissues include skin, testes and testis.

NIH Rare Diseases:45 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:67 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.

Genetics Home Reference:23 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.

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 variabilis12.6
2gjb4-related erythrokeratodermia variabilis12.6
3mednik syndrome12.0
4keratoderma palmoplantaris transgrediens12.0
5rothmund-thomson syndrome11.6
6transgrediens et progrediens palmoplantar keratoderma11.5
7multiple endocrine neoplasia10.5
8chromosome 6pter-p24 deletion syndrome10.4GFER, GJA1
9lethal encephalopathy due to mitochondrial and peroxisomal fission defect10.4GJB3, GJB4
10craniometaphyseal dysplasia, autosomal recessive10.3GFER, GJA1
11atrioventricular septal defect 310.3GFER, GJA1
12oculodentodigital dysplasia, autosomal recessive10.3GFER, GJA1
13palmoplantar keratoderma with congenital alopecia10.3GFER, GJA1
14cohen syndrome10.3
15bipolar disorder10.3
17bardet-biedl syndrome10.3
18hypoplastic left heart syndrome 110.3GFER, GJA1
19hystrix-like ichthyosis with deafness10.2GJA1, GJB2
20spastic paraplegia 50, autosomal recessive10.1GJB2, GJB3, GJB4
21pellagra like syndrome10.1GJA1, GJB1
22bart-pumphrey syndrome10.1GJB2, LOR
23palmoplantar keratoderma, epidermolytic10.1GJB2, GJB3, LOR
24x-linked charcot-marie-tooth disease type 110.0GJB1, GJB2
25hypotrichosis10.0GJA1, GJB1
26inappropriate adh syndrome10.0GJB2, LOR
27nonsyndromic hearing loss and deafness, dfnb19.9GJB2, GJB6
28myocardial infarction 29.9GJB2, GJB6
29congenital deafness with vitiligo and achalasia9.9GJB2, GJB6
30nonsyndromic hearing loss and deafness, mitochondrial9.8GJB2, GJB3, GJB6
31deafness, autosomal dominant 3a9.8GJB2, GJB3, GJB6
32metagonimiasis9.8GJB2, GJB3, GJB6
33nonsyndromic hearing loss and deafness, autosomal dominant9.8GJB2, GJB3, GJB6
34dhdds-cdg9.8GJB2, GJB3, GJB6
35acral persistent papular mucinosis9.8GJB2, GJB3, GJB6
36dihydrolipoamide dehydrogenase deficiency9.8GJB2, GJB3, GJB6
37pulmonary tuberculosis9.8GJB2, GJB3, GJB6
38pyeloureteritis cystica9.8GJB2, GJB3, GJB6
39acute hydrops keratoconus9.7GJB2, GJB6
40autosomal dominant nonsyndromic deafness9.7GJB2, GJB3, GJB6
41pseudoaminopterin syndrome9.7GJB3, GJB4, GJB6, LOR
42thyroid lymphoma9.6GJB2, GJB3, GJB6
43self-healing papular mucinosis9.6GJA1, GJB2, GJB3, GJB6
44ectodermal dysplasia 2, clouston type9.6GJA1, GJB2, GJB4, GJB6
45kidney cancer, childhood9.6GJB2, GJB3, GJB4, GJB6
46auditory perceptual disorder9.6GJB2, GJB6
47troyer syndrome9.4GJA1, GJB2, GJB3, GJB4, GJB6
48small intestine lymphoma9.4GJB2, GJB3, GJB4, GJB6, LOR
49syndactyly, type iii8.8GFER, GJA1, GJA4, GJB1, GJB2, GJB3
50erythrokeratodermia variabilis et progressiva7.7ANKK1, 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:


Clinical features from OMIM:



 51 (show all 31)
  • microcephaly
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • skin photosensitivity
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • follicular/erythematous/edematous papules/milium
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • glaucoma
  • cataract/lens opacification
  • palmoplantar hyperkeratosis/keratoderma
  • dry/squaly skin/exfoliation
  • irregular/in bands/reticular skin hyperpigmentation
  • hair and scalp anomalies
  • alopecia
  • diabetes mellitus
  • late puberty/hypogonadism/hypogenitalism
  • corneal clouding/opacity/vascularisation
  • prominent/bat ears
  • hearing loss/hypoacusia/deafness
  • short hand/brachydactyly
  • tapered fingers
  • skin tumors/lumps/epidermal cysts
  • hirsutism/hypertrichosis/increased body hair
  • nails anomalies
  • congenital cardiac anomaly/malformation/cardiopathy
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva:

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

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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Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva

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MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva:

Skin, Testes, Testis

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:

Orphan receptors COUP-TF and DAX-1 as targets in disordered CYP17 expression in adrenocortical tumors. (11196414)
Epithelioid hemangioendothelioma of the superior vena cava: computed tomography demonstration and review of the literature. (9440839)

Variations for Erythrokeratodermia Variabilis Et Progressiva

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1GJA1GJA1, GLU227ASPundetermined variantPathogenic
2GJA1NM_000165.4(GJA1): c.131C> T (p.Ala44Val)single nucleotide variantPathogenicrs794729675GRCh37Chr 6, 121768124: 121768124
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
1connexon complexGO:00059229.8GJA4, GJB4

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

idNameGO IDScoreTop Affiliating Genes
1endothelium developmentGO:000315810.3GJA1, GJA4
2cell communicationGO:00071549.4GJB2, GJB4, GJB6
3membrane organizationGO:00610249.0GJA1, GJB1, GJB2
4sensory perception of soundGO:00076058.9GJB2, GJB3, GJB6
5transportGO:00068108.4GJA1, GJA4, GJB1, GJB2

Sources for Erythrokeratodermia Variabilis Et Progressiva

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet