MCID: ERY021
MIFTS: 50

Erythrokeratodermia Variabilis Et Progressiva malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
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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 24 65 36 67
Ekv 45 23 51 67
Progressive Symmetric Erythrokeratodermia 45 51 67
Greither Disease 10 65 67
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
Transgrediens Et Progrediens Palmoplantar Keratoderma 67
Progressive Symmetrical Erythrokeratoderma of Gottron 23
Keratosis Palmoplantaris Transgrediens Et Progrediens 67
Erythrokeratodermia Variabilis Mendes Da Costa Type 67
Erythrokeratodermia Variabilis of Mendes Da Costa 23
Erythrokeratodermia Progressiva Symmetrica 51
Progressiva Symmetrica Erythrokeratodermia 45
Erythrokeratodermia Progressive Symmetric 67
Keratoderma Palmoplantaris Transgrediens 65
Erythrokeratodermia Figurata Variabilis 10
Ekv-P 23


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 133200
Disease Ontology10 DOID:0050467
MeSH36 D056266
Orphanet51 317, 316
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0265961

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 oculodentodigital dysplasia and mednik syndrome, 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, 31kDa), 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, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

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

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.

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.

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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia29.6GFER, GJA1, GJA4, GJB1, GJB2, GJB3
2mednik syndrome10.7
3keratoderma palmoplantaris transgrediens10.7
4gjb3-related erythrokeratodermia variabilis10.6
5gjb4-related erythrokeratodermia variabilis10.6
6breast cancer10.3
7spinocerebellar ataxia 3410.3
8rothmund-thomson syndrome10.3
9skin disease10.3
10ectodermal dysplasia10.3
11anodontia10.3
12pseudoainhum10.3
13transgrediens et progrediens palmoplantar keratoderma10.3
14palmoplantar keratoderma with congenital alopecia10.2GFER, GJA1
15oculodentodigital dysplasia, autosomal recessive10.2GFER, GJA1
16hypoplastic left heart syndrome 110.2GFER, GJA1
17atrioventricular septal defect 310.2GFER, GJA1
18craniometaphyseal dysplasia, autosomal recessive10.2GFER, GJA1
19syndactyly, type iii10.2GFER, GJA1
20keratitis-ichthyosis-deafness syndrome10.1GJA1, GJB2
21nonsyndromic hearing loss and deafness, dfnb110.1GJB2, GJB6
22lethal encephalopathy due to mitochondrial and peroxisomal fission defect10.1GJB2, GJB3, GJB4
23palmoplantar keratoderma, nonepidermolytic10.0GJB2, GJB3, LOR
24pancoast tumor10.0GJB2, GJB3, LOR
25congenital deafness with vitiligo and achalasia10.0GJB2, GJB6
26nonsyndromic hearing loss and deafness, mitochondrial10.0GJB2, GJB3, GJB6
27deafness, autosomal recessive 1a10.0GJB2, GJB3, GJB6
28hemangioma, hereditary10.0GJB2, GJB3, GJB6
29colon carcinoma in situ10.0GJB2, GJB3, GJB6
30nonsyndromic hearing loss and deafness, autosomal dominant10.0GJB2, GJB3, GJB6
31dhdds-cdg10.0GJB2, GJB3, GJB6
32deafness, autosomal recessive 4, with enlarged vestibular aqueduct10.0GJB2, GJB3, GJB6
33intermediate uveitis10.0GJB2, GJB3, GJB6
34bart-pumphrey syndrome10.0GJB2, GJB6, LOR
35acral persistent papular mucinosis10.0GJB2, GJB3, GJB6
36auditory perceptual disorder10.0GJB2, GJB6
37walker-warburg syndrome9.9GJB2, GJB3
38nose disease9.9GJB2, GJB3, GJB6
39x-linked charcot-marie-tooth disease type 19.9GJB1, GJB2
40pellagra like syndrome9.9GJA1, GJB1
41autism spectrum disorder9.9GJB2, GJB3, GJB6
42ectodermal dysplasia 2, clouston type9.9GJA1, GJB2, GJB4, GJB6
43kienbock's disease9.9GJB2, GJB3, GJB4, GJB6
44self-healing papular mucinosis9.9GJA1, GJB2, GJB3, GJB6
45juxtacortical chondrosarcoma9.9GJA1, GJB1
46acoustic neuroma9.9GJB2, GJB3, GJB6
47troyer syndrome9.8GJA1, GJB2, GJB3, GJB4, GJB6
48small intestine lymphoma9.7GJB2, GJB3, GJB4, GJB6, LOR
49pseudoaminopterin syndrome9.6GJA1, GJB2, GJB3, GJB4, GJB6, LOR
50neurilemmoma9.5ELOVL4, GJB1, GJB2, GJB6

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:

 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 35)
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 malformation of the heart and great vessels occasional (7.5%) HP:0002564
27 opacification of the corneal stroma occasional (7.5%) HP:0007759
28 neoplasm of the skin occasional (7.5%) HP:0008069
29 cognitive impairment occasional (7.5%) HP:0100543
30 autosomal dominant inheritance HP:0000006
31 autosomal recessive inheritance HP:0000007
32 infantile onset HP:0003593
33 patchy palmoplantar keratoderma HP:0005588
34 generalized hyperkeratosis HP:0005595
35 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 Variabilis24

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva

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MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva:

33
Skin, Testes, Testis, Heart

Animal Models for Erythrokeratodermia Variabilis Et Progressiva or affiliated genes

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MGI Mouse Phenotypes related to Erythrokeratodermia Variabilis Et Progressiva:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7GJA1, GJB2, GJB6, GJC3
2MP:00053917.6ELOVL4, GJA1, GJB1, GJB2, GJC3
3MP:00053767.2ELOVL4, GJA1, GJB1, GJB2, GJB3, GJB6

Publications for Erythrokeratodermia Variabilis Et Progressiva

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Articles related to Erythrokeratodermia Variabilis Et Progressiva:

idTitleAuthorsYear
1
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. (25964267)
2015
2
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:

67
id Symbol AA change Variation ID SNP ID
1GJB3p.Gly12AspVAR_002147
2GJB3p.Gly12ArgVAR_002148
3GJB3p.Cys86SerVAR_002149
4GJB3p.Arg42ProVAR_015085
5GJB3p.Phe137LeuVAR_015086
6GJB4p.Phe137LeuVAR_010206

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
1gap junctionGO:00059217.9GJA1, GJA4, GJB1, GJB2, GJB3, GJB6
2connexon complexGO:00059227.4GJA1, GJA4, GJB1, GJB2, GJB3, GJB4
3integral component of membraneGO:00160216.5ELOVL4, GJA4, GJB1, GJB2, GJB3, GJB4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1endothelium developmentGO:000315810.2GJA1, GJA4
2gap junction assemblyGO:00162649.5GJA1, GJB1, GJB2
3protein oligomerizationGO:00512599.3GJA1, GJB1
4membrane organizationGO:00610249.1GJA1, GJB1, GJB2
5transmembrane transportGO:00550858.8GJA1, GJB1, GJB2, GJB3
6cell-cell signalingGO:00072678.7GJA1, GJA4, GJB1, GJB2
7transportGO:00068108.5GJA1, GJA4, GJB1, GJB2
8sensory perception of soundGO:00076058.3GJB2, GJB3, GJB6, GJC3
9cell communicationGO:00071547.2GJA1, 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:00052438.6GJA1, GJB1, GJB2, GJB3

Sources for Erythrokeratodermia Variabilis Et Progressiva

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet