MCID: ERY021
MIFTS: 42

Erythrokeratodermia Variabilis Et Progressiva malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Erythrokeratodermia Variabilis Et Progressiva:

Name: Erythrokeratodermia Variabilis Et Progressiva 46 9 42 21
Erythrokeratodermia Variabilis 8 42 21 10 44 48 22 61
Ekv 42 21 48
Erythrokeratodermia Variabilis, Mendes Da Costa Type 42 48
Erythrokeratodermia, Progressive Symmetric 42 21
Progressive Symmetric Erythrokeratodermia 42 48
Darier-Gottron Disease 42 48
Greither Disease 8 61
Ekvp 42 21
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 46
 
Progressive Symmetric Erythrokeratodermia, Gottron Type 48
Progressive Symmetrical Erythrokeratoderma of Gottron 21
Erythrokeratodermia Variabilis of Mendes Da Costa 21
Erythrokeratodermia Progressiva Symmetrica 48
Progressiva Symmetrica Erythrokeratodermia 42
Keratoderma Palmoplantaris Transgrediens 61
Erythrokeratodermia Figurata Variabilis 8
Ekv-P 21
Psek 42


Classifications:

Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
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:

OMIM46 133200
Disease Ontology8 DOID:0050467
MeSH33 D056266
Orphanet48 317, 316
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet62 C0265961

Summaries for Erythrokeratodermia Variabilis Et Progressiva

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NIH Rare Diseases:42 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

MalaCards based summary: Erythrokeratodermia Variabilis Et Progressiva, also known as erythrokeratodermia variabilis, is related to skin disease and keratoderma palmoplantaris transgrediens, and has symptoms including palmoplantar keratoderma, microcephaly 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 Myometrial Relaxation and Contraction Pathways and Clathrin derived vesicle budding. The compounds proline and 10panx have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and testis.

Genetics Home Reference:21 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.

OMIM:46 The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders... (133200) more...

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva

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Graphical network of 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:

 48 (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 palmoplantar keratoderma hallmark (90%) HP:0000982
2 microcephaly hallmark (90%) HP:0000252
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 glaucoma typical (50%) HP:0000501
10 cataract typical (50%) HP:0000518
11 diabetes mellitus typical (50%) HP:0000819
12 dry skin typical (50%) HP:0000958
13 palmoplantar keratoderma typical (50%) HP:0000982
14 alopecia typical (50%) HP:0001596
15 abnormality of the testis occasional (7.5%) HP:0000035
16 hearing impairment occasional (7.5%) HP:0000365
17 abnormality of the pinna occasional (7.5%) HP:0000377
18 hypertrichosis occasional (7.5%) HP:0000998
19 brachydactyly syndrome occasional (7.5%) HP:0001156
20 tapered finger occasional (7.5%) HP:0001182
21 abnormality of the nail occasional (7.5%) HP:0001597
22 malformation of the heart and great vessels occasional (7.5%) HP:0002564
23 opacification of the corneal stroma occasional (7.5%) HP:0007759
24 neoplasm of the skin occasional (7.5%) HP:0008069
25 cognitive impairment occasional (7.5%) HP:0100543
26 autosomal dominant inheritance HP:0000006
27 autosomal recessive inheritance HP:0000007
28 infantile onset HP:0003593
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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Drug clinical trials:

Search ClinicalTrials for Erythrokeratodermia Variabilis Et Progressiva

Search NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva

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 Variabilis22

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva

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MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva:

31
Skin, Heart, Testis, Testes

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
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:

63
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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1GJB4NM_153212.2(GJB4): c.409T> C (p.Phe137Leu)single nucleotide variantPathogenicrs80358207GRCh37Chr 1, 35227264: 35227264
2GJB4NM_153212.2(GJB4): c.411C> A (p.Phe137Leu)single nucleotide variantPathogenicrs80358206GRCh37Chr 1, 35227266: 35227266
3GJB4NM_153212.2(GJB4): c.253A> C (p.Thr85Pro)single nucleotide variantPathogenicrs80358210GRCh37Chr 1, 35227108: 35227108
4GJB4NM_153212.2(GJB4): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs80358211GRCh37Chr 1, 35226890: 35226890
5GJB4NM_153212.2(GJB4): c.65G> A (p.Arg22His)single nucleotide variantPathogenicrs80358212GRCh37Chr 1, 35226920: 35226920
6GJB4NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr)single nucleotide variantPathogenicrs80358213GRCh37Chr 1, 35227421: 35227421
7GJB3NM_024009.2(GJB3): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs74315315GRCh37Chr 1, 35250397: 35250397
8GJB3NM_024009.2(GJB3): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs74315316GRCh37Chr 1, 35250398: 35250398
9GJB3NM_024009.2(GJB3): c.256T> A (p.Cys86Ser)single nucleotide variantPathogenicrs74315317GRCh37Chr 1, 35250619: 35250619
10GJB3NM_024009.2(GJB3): c.125G> C (p.Arg42Pro)single nucleotide variantPathogenicrs74315321GRCh37Chr 1, 35250488: 35250488
11GJB3NM_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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Pathways related to Erythrokeratodermia Variabilis Et Progressiva according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Calcium Regulation in the Cardiac Cell36
9.0GJB3, GJB4
2
Show member pathways
9.0GJB3, GJB4
3
Show member pathways
9.0GJB3, GJB4
4
Show member pathways
9.0GJB3, GJB4

Compounds for genes affiliated with Erythrokeratodermia Variabilis Et Progressiva

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

idCompoundScoreTop Affiliating Genes
1proline449.3GJB3, LOR
210panx609.2GJB3, GJB4
3scrambled 10panx609.2GJB3, GJB4
4carbenoxolone disodium609.2GJB3, GJB4
5gap 27609.1GJB3, GJB4
6octanol28 2410.1GJB4, GJB3
7carbenoxolone44 28 1111.0GJB3, GJB4
8ca2+288.9GJB3, GJB4
9flufenamic acid28 44 1 1111.7GJB3, GJB4

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:00059229.0GJB3, GJB4

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

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:00071549.0GJB3, GJB4

Sources for Erythrokeratodermia Variabilis Et Progressiva

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet