EKVP5
MCID: ERY062
MIFTS: 31

Erythrokeratodermia Variabilis Et Progressiva 5 (EKVP5)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin 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 74 29 6
Ekvp5 57 74
Progressive Symmetric Erythrokeratodermia, Gottron Type 59
Erythrokeratodermia Progressiva Symmetrica 59
Progressive Symmetric Erythrokeratodermia 59
Erythrokeratodermia Variabilis 72
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


HPO:

32
erythrokeratodermia variabilis et progressiva 5:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080251
MeSH 44 D056266
ICD10 via Orphanet 34 Q82.8
Orphanet 59 ORPHA316
UMLS 72 C0265961

Summaries for Erythrokeratodermia Variabilis Et Progressiva 5

UniProtKB/Swiss-Prot : 74 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 joint stiffness and palmoplantar keratoderma

More information from OMIM: 617756 PS133200

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 5

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

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 5:

32 59 (showing 5, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 32 HP:0001387
2 palmoplantar keratoderma 59 Very frequent (99-80%)
3 erythema 59 Very frequent (99-80%)
4 skin plaque 59 Very frequent (99-80%)
5 palmoplantar hyperkeratosis 32 HP:0000972

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperkeratosis
palmoplantar hyperkeratosis
lichenified hyperkeratotic plaques, symmetric (face, arms, axillae, legs, hands, feet)
accentuated creases over knees and elbows
peridigital constrictions on dorsa of fingers

Skeletal Hands:
joint stiffness (hands)

Skin Nails Hair Nails:
thick fingernails
thick toenails

Skeletal Limbs:
joint stiffness (elbows and knees)

Skeletal Feet:
joint stiffness (feet)

Clinical features from OMIM:

617756

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 KRT83

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:

(showing 21, show less)
# Title Authors PMID Year
1
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. 8 71
27965375 2017
2
[Progressive symmetric erythrokeratodermia: Activating mutations of TRPM4]. 38
31358308 2019
3
Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia. 38
30528822 2019
4
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. 38
24962725 2014
5
Progressive symmetric erythrokeratodermia with delayed intellectual milestones and convulsions. 38
23130266 2012
6
Progressive symmetric Erythrokeratodermia. 38
21532109 2011
7
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. 38
19291775 2009
8
Identification of a novel locus for progressive symmetric erythrokeratodermia to a 19.02-cM interval at 21q11.2-21q21.2. 38
16691195 2006
9
[Progressive symmetric erythrokeratodermia of Darier-Gottron]. 38
15340705 2004
10
Progressive symmetric erythrokeratodermia: report of a Chinese family and evidence for genetic heterogeneity. 38
15381248 2004
11
Generalized erythematous plaques. Progressive symmetric erythrokeratodermia (PSEK) (erythrokeratodermia progressiva symmetrica). 38
10815862 2000
12
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 38
10798362 2000
13
Erythrokeratodermia progressivum symmetricum. 38
20921738 1998
14
Primary tuberculous liver abscess associated with progressive symmetric erythrokeratodermia, anodontia and ectodermal dysplasias. 38
9828554 1998
15
Progressive symmetric erythrokeratodermia. 38
8632090 1996
16
[A case report of progressive symmetric erythrokeratodermia and a review of progressive erythrokeratodermia in Japan]. 38
1920895 1991
17
Progressive symmetric erythrokeratodermia of Darier Gottron. 38
2340941 1990
18
Progressive symmetric erythrokeratodermia. 38
3403732 1988
19
[Progressive symmetric erythrokeratodermia. Report of a case with delayed onset treated by etretinate]. 38
2974108 1988
20
Progressive symmetric erythrokeratodermia. Histological and ultrastructural study of patient before and after treatment with etretinate. 38
2937369 1986
21
Progressive symmetric erythrokeratodermia. 38
147782 1978

Variations for Erythrokeratodermia Variabilis Et Progressiva 5

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 5:

6 (showing 1, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KRT83 NM_002282.3(KRT83): c.811del (p.Ser271fs) deletion Pathogenic rs753293188 12:52710747-52710747 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:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 LOR KRT83

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 5

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 LOR KRT83
2 cornification GO:0070268 8.62 LOR KRT83

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.32 LOR

Sources for Erythrokeratodermia Variabilis Et Progressiva 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....