EKVP5
MCID: ERY062
MIFTS: 30

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 58 12 76 30 6
Ekvp5 58 76
Progressive Symmetric Erythrokeratodermia, Gottron Type 60
Erythrokeratodermia Progressiva Symmetrica 60
Progressive Symmetric Erythrokeratodermia 60
Erythrokeratodermia Variabilis 74
Darier-Gottron Disease 60

Characteristics:

Orphanet epidemiological data:

60
progressive symmetric erythrokeratodermia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
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: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080251
OMIM 58 617756
MeSH 45 D056266
ICD10 via Orphanet 35 Q82.8
Orphanet 60 ORPHA316
SNOMED-CT via HPO 70 706885006
UMLS 74 C0265961

Summaries for Erythrokeratodermia Variabilis Et Progressiva 5

UniProtKB/Swiss-Prot : 76 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, liver and eye, 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:

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 1 31.5 KDSR LOR
2 erythrokeratodermia variabilis et progressiva 2 11.3
3 al-raqad syndrome 10.1
4 anodontia 10.1
5 pseudoainhum 10.1

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:

60 33 (showing 4, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 60 Very frequent (99-80%)
2 erythema 60 Very frequent (99-80%)
3 skin plaque 60 Very frequent (99-80%)
4 palmoplantar hyperkeratosis 33 HP:0000972

Symptoms via clinical synopsis from OMIM:

58
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 30 KRT83

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 5

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

42
Skin, Liver, Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 5

Articles related to Erythrokeratodermia Variabilis Et Progressiva 5:

(showing 4, show less)
# Title Authors Year
1
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. ( 27965375 )
2017
2
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
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 (showing 2, show less)
# 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:

(showing 1, show less)
# 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:

(showing 2, show less)
# 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:

(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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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