MCID: ERY021
MIFTS: 48

Erythrokeratodermia Variabilis Et Progressiva malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva

About this section

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

About this section
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 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 Development Slit-Robo signaling. Affiliated tissues include skin, testis and heart, and related mouse phenotype integument.

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.

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

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva

About this section

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

(show all 41)
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
7hystrix-like ichthyosis with deafness10.2GJA1, GJB2
8oculodentodigital dysplasia10.2
9inflammatory linear verrucous epidermal nevus10.2
10non-hypoproteinemic hypertrophic gastropathy10.1GJB2, GJB3, GJB4
11pelvic dysplasia arthrogryposis of lower limbs10.0GJA1, GJB1
12spastic paraplegia 50, autosomal recessive10.0GJB2, GJB3, GJB4
13hallux varus and preaxial polysyndactyly10.0GJA1, GJB1
14congenital nephrotic syndrome finnish type9.9GJB1, GJB2
15ectodermal dysplasia9.9
16anodontia9.9
17pseudoainhum9.9
18nonsyndromic hearing loss and deafness, mitochondrial9.8GJB2, GJB6
19myocardial infarction 29.8GJB2, GJB6
20breast fibroadenoma9.8GJA1, GJB2
21thumb deformity, alopecia, pigmentation anomaly9.7GJB2, GJB6
22noonan syndrome with multiple lentigines9.6GJB2, GJB3, GJB6
23continuous spike-wave during slow sleep syndrome9.6GJB2, GJB3, GJB6
24sublingual gland cancer9.6GJB2, GJB3, GJB6
25dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia9.6GJB2, GJB6
26nonsyndromic hearing loss and deafness, autosomal recessive9.6GJB2, GJB3, GJB6
27self-healing papular mucinosis9.6GJB2, GJB3, GJB6
28dihydrolipoamide dehydrogenase deficiency9.6GJB2, GJB3, GJB6
29hyperimmunoglobulin syndrome9.6GJB2, GJB3, GJB6
30ectodermal dysplasia 2, clouston type9.6GJB2, GJB6, LOR
31pyelitis9.6GJB2, GJB3, GJB6
32autosomal recessive nonsyndromic deafness9.5GJB2, GJB3, GJB6
33cerebral artery occlusion9.5GJB2, GJB6
34localized lichen myxedematosus with mixed features of different subtypes9.4GJA1, GJB2, GJB3, GJB6
35troyer syndrome9.4GJA1, GJB2, GJB4, GJB6
36punctate palmoplantar keratoderma type 29.4GJB2, GJB3, GJB4, GJB6
37deafness, autosomal dominant 3a9.1GJB1, GJB2, GJB3, GJB6
38dementia, familial british9.1GJA1, GJB2, GJB3, GJB4, GJB6
39small non-cleaved cell lymphoma9.0GJB2, GJB3, GJB4, GJB6, LOR
40pseudohermaphrodism anorectal anomalies8.8GJA1, GJB2, GJB3, GJB4, GJB6, LOR
41syndactyly, type iii8.6GJA1, GJA4, GJB1, GJB2, GJB3, GJB4

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

About this section

Symptoms by clinical synopsis from OMIM:

133200

Clinical features from OMIM:

133200

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva:

 64 54 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
2 dry skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000958
3 skin rash64 54 hallmark (90%) Very frequent (99-80%) HP:0000988
4 cutaneous photosensitivity64 54 hallmark (90%) Very frequent (99-80%) HP:0000992
5 hypermelanotic macule64 54 hallmark (90%) Very frequent (99-80%) HP:0001034
6 weight loss64 54 hallmark (90%) Very frequent (99-80%) HP:0001824
7 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormal blistering of the skin64 54 hallmark (90%) Very frequent (99-80%) HP:0008066
9 palmoplantar keratoderma64 54 hallmark (90%) Very frequent (99-80%) HP:0000982
10 glaucoma64 54 typical (50%) Frequent (79-30%) HP:0000501
11 cataract64 54 typical (50%) Frequent (79-30%) HP:0000518
12 diabetes mellitus64 54 typical (50%) Frequent (79-30%) HP:0000819
13 hyperhidrosis64 54 typical (50%) Frequent (79-30%) HP:0000975
14 abnormality of the fingernails64 typical (50%) HP:0001231
15 alopecia64 54 typical (50%) Occasional (29-5%) HP:0001596
16 abnormality of the testis64 54 occasional (7.5%) Occasional (29-5%) HP:0000035
17 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
18 abnormality of the pinna64 occasional (7.5%) HP:0000377
19 hypertrichosis64 occasional (7.5%) HP:0000998
20 corneal dystrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0001131
21 brachydactyly syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0001156
22 tapered finger64 54 occasional (7.5%) Occasional (29-5%) HP:0001182
23 limitation of joint mobility64 occasional (7.5%) HP:0001376
24 opacification of the corneal stroma64 occasional (7.5%) HP:0007759
25 neoplasm of the skin64 54 occasional (7.5%) Occasional (29-5%) HP:0008069
26 cognitive impairment64 occasional (7.5%) HP:0100543
27 patchy palmoplantar keratoderma64 54 Frequent (79-30%) HP:0005588
28 generalized hyperkeratosis64 54 Occasional (29-5%) HP:0005595
29 erythema64 54 Frequent (79-30%) HP:0010783
30 joint stiffness54 Occasional (29-5%)
31 thin fingernail54 Frequent (79-30%)
32 protruding ear54 Occasional (29-5%)
33 abnormality of the hair54 Frequent (79-30%)
34 abnormality of the nail54 Occasional (29-5%)
35 generalized hirsutism54 Occasional (29-5%)
36 malformation of the heart and great vessels54 Occasional (29-5%)
37 macule54 Very frequent (99-80%)
38 hyperkeratosis54 Very frequent (99-80%)
39 intellectual disability54 Occasional (29-5%)
40 irregular hyperpigmentation54 Frequent (79-30%)
41 corneal opacity54 Occasional (29-5%)
42 skin plaque54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Erythrokeratodermia Variabilis Et Progressiva according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0ELOVL4, GJA1, GJB2, GJB3, GJB6

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva

About this section

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

About this section

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva:

id Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis27

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva

About this section

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva:

36
Skin, Testis, Heart

Publications for Erythrokeratodermia Variabilis Et Progressiva

About this section

Articles related to Erythrokeratodermia Variabilis Et Progressiva:

idTitleAuthorsYear
1
Inflammatory linear verrucous epidermal nevus with a postzygotic GJA1 mutation is a mosaic erythrokeratodermia variabilis et progressiva. (27890787)
2016
2
Erythrokeratodermia variabilis et progressiva. (26945536)
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

About this section

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 14)
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
14GJB3NM_024009.2(GJB3): c.580G> A (p.Ala194Thr)SNVPathogenicrs117385606GRCh37Chr 1, 35250943: 35250943

Expression for genes affiliated with Erythrokeratodermia Variabilis Et Progressiva

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

Pathways for genes affiliated with Erythrokeratodermia Variabilis Et Progressiva

About this section

GO Terms for genes affiliated with Erythrokeratodermia Variabilis Et Progressiva

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.7GJA1, GJB2
2gap junctionGO:00059218.0GJA1, GJA4, GJB1, GJB2, GJB3, GJB6
3connexin complexGO:00059227.7GJA1, GJA4, GJB1, GJB2, GJB3, GJB4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1endothelium developmentGO:000315810.5GJA1, GJA4
2protein oligomerizationGO:005125910.3GJA1, GJB1
3gap junction assemblyGO:00162649.8GJA1, GJB1, GJB2
4sensory perception of soundGO:00076059.6GJB2, GJB3, GJB6
5transmembrane transportGO:00550859.5GJA1, GJB1, GJB2, GJB3
6cell communicationGO:00071549.4GJA1, GJB3, GJB4, GJB6
7cell-cell signalingGO:00072679.4GJA1, GJA4, GJB1, GJB2
8transportGO:00068108.6GJA1, 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

About this section
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