MCID: ERY014
MIFTS: 28

Erythrokeratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Erythrokeratoderma

MalaCards integrated aliases for Erythrokeratoderma:

Name: Erythrokeratoderma 59

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

UMLS via Orphanet 73 C0432330
Orphanet 59 ORPHA79355

Summaries for Erythrokeratoderma

MalaCards based summary : Erythrokeratoderma is related to kid syndrome and erythrokeratodermia variabilis et progressiva 1. An important gene associated with Erythrokeratoderma is LOR (Loricrin), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, brain and endothelial.

Wikipedia : 75 Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive skin... more...

Related Diseases for Erythrokeratoderma

Diseases related to Erythrokeratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 kid syndrome 32.2 GJB4 GJB3 GJB2
2 erythrokeratodermia variabilis et progressiva 1 32.0 LOR KDSR GJB4 GJB3 GJB2 GJA1
3 vohwinkel syndrome 30.9 LOR GJB2
4 palmoplantar keratosis 30.6 LOR GJB3 GJB2
5 ichthyosis vulgaris 30.4 LOR FLG
6 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 30.4 GJB4 GJB3 GJB2
7 ainhum 30.3 LOR GJB2 GJA1
8 erythrokeratodermia variabilis et progressiva 5 30.0 LOR KRT83 KDSR
9 keratosis 30.0 IVL GJB2 GJA1 FLG
10 ichthyosis 29.5 PNPLA1 LOR GJB2 FLG ABHD5
11 pseudoainhum 29.5 LOR GJB4 GJB3 GJB2 GJA1
12 skin disease 28.7 LOR IVL GJB4 GJB3 GJB2 GJA1
13 autosomal recessive congenital ichthyosis 28.6 PNPLA1 LOR IVL GJB4 FLG ABHD5
14 erythrokeratoderma ''en cocardes'' 12.7
15 erythrokeratoderma variabilis progressiva 12.3
16 genetic erythrokeratoderma 12.2
17 erythroderma, ichthyosiform, congenital reticular 11.8
18 keratitis-ichthyosis-deafness syndrome, autosomal dominant 11.6
19 deafness, autosomal dominant 3a 10.5 GJB4 GJB2
20 deafness, autosomal recessive 93 10.4 GJB3 GJB2
21 dermatitis, atopic, 2 10.4 LOR FLG
22 deafness, autosomal recessive 28 10.4 GJB3 GJB2
23 hodgkin's lymphoma, nodular sclerosis 10.4 GJB3 GJB2
24 rare genetic skin disease 10.4
25 vestibular disease 10.3 GJB3 GJB2
26 deafness, autosomal recessive 67 10.3 GJB3 GJB2
27 drug-induced hearing loss 10.3 GJB3 GJB2
28 branchiootic syndrome 1 10.3
29 hypertrichosis 10.3
30 molluscum contagiosum 10.3 LOR FLG
31 hypotrichosis-deafness syndrome 10.2 GJB4 GJB3 GJB2
32 deafness, autosomal recessive 1a 10.2 GJB4 GJB3 GJB2
33 papilloma 10.2
34 peripheral nervous system disease 10.2
35 neuropathy 10.2
36 palmoplantar keratoderma, epidermolytic 10.2 LOR FLG
37 discoid lupus erythematosus 10.2 IVL FLG
38 clear cell acanthoma 10.1 IVL FLG
39 inner ear disease 10.1 GJB3 GJB2
40 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.1 GJB3 GJB2
41 lichen disease 10.1 IVL FLG
42 knuckle pads, leukonychia, and sensorineural deafness 10.1 GJB4 GJB2 GJA1
43 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1 GJB3 GJB2 GJA1
44 epidermolytic hyperkeratosis 10.0
45 monilethrix 10.0
46 chanarin-dorfman syndrome 10.0
47 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 10.0
48 vohwinkel syndrome, variant form 10.0
49 erythrokeratodermia variabilis et progressiva 4 10.0
50 nephrotic syndrome 10.0

Graphical network of the top 20 diseases related to Erythrokeratoderma:



Diseases related to Erythrokeratoderma

Symptoms & Phenotypes for Erythrokeratoderma

Drugs & Therapeutics for Erythrokeratoderma

Search Clinical Trials , NIH Clinical Center for Erythrokeratoderma

Genetic Tests for Erythrokeratoderma

Anatomical Context for Erythrokeratoderma

MalaCards organs/tissues related to Erythrokeratoderma:

41
Skin, Brain, Endothelial, T Cells

Publications for Erythrokeratoderma

Articles related to Erythrokeratoderma:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Progressive Symmetrical Erythrokeratoderma Associated with Punctate Palmoplantarkeratoderma. 38
30984600 2019
2
Mutations in PERP Cause Dominant and Recessive Keratoderma. 38
30321533 2019
3
The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification. 38
29799648 2019
4
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. 38
29023646 2018
5
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. 38
28774589 2017
6
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. 38
28635012 2017
7
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. 38
28575652 2017
8
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. 38
27965375 2017
9
Herpes simplex virus in erythrokeratoderma variabilis. 38
28329543 2016
10
Late Onset Progressive Symmetric Erythrokeratoderma with Pseudo Ainhum. 38
27512197 2016
11
Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation. 38
27409001 2016
12
Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function. 38
26632638 2016
13
Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. 38
26338057 2016
14
Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes. 38
26810281 2016
15
Progressive symmetrical erythrokeratoderma on the face: A rare condition and successful treatment with calcipotriol. 38
27051833 2016
16
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. 38
25575739 2015
17
Progressive Symmetric Erythrokeratoderma Having Overlapping Features With Erythrokeratoderma Variabilis and Lesional Hypertrichosis: Is Nomenclature "Erythrokeratoderma Variabilis Progressiva" More Appropriate? 38
26288417 2015
18
Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. 38
25546246 2015
19
Progressive symmetric erythrokeratoderma with dermatophytosis. 38
25035366 2014
20
Progressive symmetric erythrokeratoderma with unusual associations. 38
24891689 2014
21
Progressive symmetric erythrokeratoderma: report of an Indian family. 38
24601895 2014
22
Overview of skin diseases linked to connexin gene mutations. 38
23675785 2014
23
Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes. 38
23678955 2013
24
Progressive symmetric erythrokeratoderma with nephrotic syndrome: Coincidence or new association? 38
24350023 2013
25
Unfolded protein response in keratinocytes: impact on normal and abnormal keratinization. 38
23352280 2013
26
Neutral lipid storage disease with unusual presentation: report of three cases. 38
21575048 2012
27
Expression of bleomycin hydrolase in keratinization disorders. 38
22037625 2012
28
Progressive symmetric erythrokeratodermia with delayed intellectual milestones and convulsions. 38
23130266 2012
29
Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. 38
23130264 2012
30
p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis. 38
21920315 2011
31
Progressive symmetric erythrokeratoderma: report of a Chinese family. 38
21860161 2011
32
Progressive symmetrical erythrokeratoderma - response to topical calcipotriol. 38
22187580 2011
33
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. 38
21564177 2011
34
From progressive symmetric erythrokeratoderma to erythrokeratoderma variabilis progressiva. 38
21496691 2011
35
Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. 38
21188847 2011
36
SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. 38
20854438 2011
37
Progressive and symmetric erythrokeratoderma of adult onset: A rare case. 38
23130195 2010
38
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 38
20236940 2010
39
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. 38
20101161 2010
40
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). 38
22470741 2010
41
Erythrokeratoderma variabilis responding to low-dose isotretinoin. 38
20199434 2010
42
EKV mutant connexin 31 associated cell death is mediated by ER stress. 38
19755382 2009
43
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
44
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? 38
18950394 2008
45
Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations. 38
18462442 2008
46
Chromosome 6 abnormality with associated dysmorphological features and erythrokeratoderma. 38
18789107 2008
47
Erythrokeratoderma variabilis. 38
18627749 2008
48
Erythrokeratoderma variabilis without GJB3 or GJB4 mutation: a review of Japanese patients. 38
17573869 2007
49
Progressive symmetrical erythrokeratoderma with perioral involvement. 38
17052427 2006
50
Erythrokeratoderma variabilis successfully treated with topical tazarotene. 38
16918639 2006

Variations for Erythrokeratoderma

Expression for Erythrokeratoderma

Search GEO for disease gene expression data for Erythrokeratoderma.

Pathways for Erythrokeratoderma

Pathways related to Erythrokeratoderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 GJB5 GJB4 GJB3 GJB2 GJA1
2
Show member pathways
12.5 IVL GJB5 GJB4 GJB3 GJB2 GJA1
3
Show member pathways
12.02 GJB3 GJB2 GJA1
4
Show member pathways
12.01 LOR KRT83 IVL FLG
5
Show member pathways
11.84 GJB5 GJB4 GJB3 GJB2 GJA1
6
Show member pathways
11.01 GJB5 GJB4 GJB3 GJB2 GJA1
7 10.9 IVL GJA1
8
Show member pathways
10.28 GJB2 GJA1

GO Terms for Erythrokeratoderma

Cellular components related to Erythrokeratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.65 GJB5 GJB4 GJB3 GJB2 GJA1
2 intermediate filament GO:0005882 9.5 KRT83 GJA1 FLG
3 lateral plasma membrane GO:0016328 9.37 GJB2 GJA1
4 gap junction GO:0005921 9.35 GJB5 GJB4 GJB3 GJB2 GJA1
5 cornified envelope GO:0001533 9.33 LOR IVL FLG
6 connexin complex GO:0005922 9.02 GJB5 GJB4 GJB3 GJB2 GJA1

Biological processes related to Erythrokeratoderma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.61 LOR KRT83 IVL
2 keratinocyte differentiation GO:0030216 9.54 LOR IVL FLG
3 response to retinoic acid GO:0032526 9.49 GJB2 GJA1
4 response to ischemia GO:0002931 9.48 GJB2 GJA1
5 lipid homeostasis GO:0055088 9.46 PNPLA1 ABHD5
6 cornification GO:0070268 9.46 LOR KRT83 IVL FLG
7 peptide cross-linking GO:0018149 9.43 LOR IVL FLG
8 decidualization GO:0046697 9.4 GJB2 GJA1
9 gap junction assembly GO:0016264 9.32 GJB2 GJA1
10 epididymis development GO:1905867 9.13 GJB5 GJB2 GJA1
11 cell communication GO:0007154 9.02 GJB5 GJB4 GJB3 GJB2 GJA1

Molecular functions related to Erythrokeratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 triglyceride lipase activity GO:0004806 9.26 PNPLA1 ABHD5
2 structural constituent of epidermis GO:0030280 9.16 LOR FLG
3 structural molecule activity GO:0005198 8.96 LOR FLG
4 gap junction channel activity GO:0005243 8.8 GJB3 GJB2 GJA1

Sources for Erythrokeratoderma

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
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