MCID: ERY062
MIFTS: 29

Erythrokeratodermia Variabilis Et Progressiva 5

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 5

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 5:

Name: Erythrokeratodermia Variabilis Et Progressiva 5 57 12 75 29 6
Ekvp5 57 75
Progressive Symmetric Erythrokeratodermia, Gottron Type 59
Erythrokeratodermia Progressiva Symmetrica 59
Progressive Symmetric Erythrokeratodermia 59
Erythrokeratodermia Variabilis 73
Darier-Gottron Disease 59

Characteristics:

Orphanet epidemiological data:

59
progressive symmetric erythrokeratodermia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 pakistani kindred (last curated october 2017)
onset in first 2 years of life
all family members had normal hair, teeth, and sweating
no erythematous patches


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 617756
Disease Ontology 12 DOID:0080251
Orphanet 59 ORPHA316
ICD10 via Orphanet 34 Q82.8
MeSH 44 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 5

UniProtKB/Swiss-Prot : 75 Erythrokeratodermia variabilis et progressiva 5: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema 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. EKVP5 inheritance is autosomal recessive.

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 5, also known as ekvp5, is related to erythrokeratodermia variabilis et progressiva 1 and erythrokeratodermia variabilis et progressiva 2. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 5 is KRT83 (Keratin 83), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin and liver, and related phenotypes are palmoplantar keratoderma and erythema

Description from OMIM: 617756

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 5

Diseases in the Erythrokeratodermia Variabilis Et Progressiva 1 family:

Erythrokeratodermia Variabilis Et Progressiva 2 Erythrokeratodermia Variabilis Et Progressiva 3
Erythrokeratodermia Variabilis Et Progressiva 4 Erythrokeratodermia Variabilis Et Progressiva 5

Diseases related to Erythrokeratodermia Variabilis Et Progressiva 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 1 31.7 KDSR LOR
2 erythrokeratodermia variabilis et progressiva 2 11.1
3 ectodermal dysplasia 10.0
4 anodontia 10.0
5 pseudoainhum 10.0

Graphical network of the top 20 diseases related to Erythrokeratodermia Variabilis Et Progressiva 5:



Diseases related to Erythrokeratodermia Variabilis Et Progressiva 5

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 5

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
joint stiffness (elbows and knees)

Skeletal Feet:
joint stiffness (feet)

Skin Nails Hair Nails:
thick fingernails
thick toenails

Skeletal Hands:
joint stiffness (hands)

Skin Nails Hair Skin:
hyperkeratosis
lichenified hyperkeratotic plaques, symmetric (face, arms, axillae, legs, hands, feet)
accentuated creases over knees and elbows
palmoplantar hyperkeratosis
peridigital constrictions on dorsa of fingers


Clinical features from OMIM:

617756

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 5:

59
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 Very frequent (99-80%)
2 erythema 59 Very frequent (99-80%)
3 skin plaque 59 Very frequent (99-80%)

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 5

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 5

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 5

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva 5:

# Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis Et Progressiva 5 29

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 5

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva 5:

41
Skin, Liver

Publications for Erythrokeratodermia Variabilis Et Progressiva 5

Articles related to Erythrokeratodermia Variabilis Et Progressiva 5:

# Title Authors Year
1
No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum. ( 24962725 )
2014
2
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia. ( 21198793 )
2011
3
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. ( 19291775 )
2009
4
Primary tuberculous liver abscess associated with progressive symmetric erythrokeratodermia, anodontia and ectodermal dysplasias. ( 9828554 )
1998

Variations for Erythrokeratodermia Variabilis Et Progressiva 5

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT83 NM_002282.3(KRT83): c.811delA (p.Ser271Alafs) deletion Pathogenic rs753293188 GRCh37 Chromosome 12, 52710747: 52710747
2 KRT83 NM_002282.3(KRT83): c.811delA (p.Ser271Alafs) deletion Pathogenic rs753293188 GRCh38 Chromosome 12, 52316963: 52316963

Expression for Erythrokeratodermia Variabilis Et Progressiva 5

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 5.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 5

Pathways related to Erythrokeratodermia Variabilis Et Progressiva 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 KRT83 LOR

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 5

Biological processes related to Erythrokeratodermia Variabilis Et Progressiva 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 KRT83 LOR
2 cornification GO:0070268 8.62 KRT83 LOR

Molecular functions related to Erythrokeratodermia Variabilis Et Progressiva 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.62 KRT83 LOR

Sources for Erythrokeratodermia Variabilis Et Progressiva 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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