MCID: ERY014
MIFTS: 27

Erythrokeratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Erythrokeratoderma

MalaCards integrated aliases for Erythrokeratoderma:

Name: Erythrokeratoderma 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

UMLS via Orphanet 72 C0432330
Orphanet 58 ORPHA79355

Summaries for Erythrokeratoderma

MalaCards based summary : Erythrokeratoderma is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant and vohwinkel syndrome. An important gene associated with Erythrokeratoderma is LORICRIN (Loricrin Cornified Envelope Precursor Protein), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, brain and t cells.

Wikipedia : 74 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 77)
# Related Disease Score Top Affiliating Genes
1 keratitis-ichthyosis-deafness syndrome, autosomal dominant 33.0 GJB2 GJA1
2 vohwinkel syndrome 30.7 LORICRIN GJB2
3 erythrokeratodermia variabilis et progressiva 1 30.7 LORICRIN KRT83 KDSR GJB5 GJB4 GJB3
4 chanarin-dorfman syndrome 30.0 PNPLA1 ABHD5
5 ainhum 30.0 PNPLA1 LORICRIN GJB2
6 keratosis 30.0 IVL GJB2 GJA1 FLG
7 ichthyosis vulgaris 29.9 LORICRIN IVL FLG
8 palmoplantar keratosis 29.7 LORICRIN GJB4 GJB3 GJB2 GJA1
9 pseudoainhum 29.5 LORICRIN GJB4 GJB3 GJB2 GJA1
10 epidermolytic hyperkeratosis 29.4 PNPLA1 LORICRIN IVL FLG
11 skin disease 29.0 LORICRIN IVL GJB4 GJB3 GJB2 GJA1
12 ichthyosis 28.7 PNPLA1 LORICRIN IVL GJB2 GJA1 FLG
13 autosomal recessive congenital ichthyosis 28.6 PNPLA1 LORICRIN IVL GJB4 GJB3 FLG
14 erythrokeratoderma ''en cocardes'' 12.7
15 genetic erythrokeratoderma 12.2
16 erythroderma, ichthyosiform, congenital reticular 11.8
17 rare genetic skin disease 10.4
18 nonsyndromic hearing loss and deafness, dfnb1 10.3 GJB3 GJB2
19 dfnb1 10.3 GJB3 GJB2
20 spinocerebellar ataxia 34 10.3 GJB4 GJB3
21 branchiootic syndrome 1 10.3
22 hypertrichosis 10.3
23 deafness, autosomal recessive 1b 10.3 GJB3 GJB2
24 deafness, autosomal dominant 2b 10.3 GJB3 GJB2
25 deafness, autosomal dominant 3b 10.3 GJB3 GJB2
26 deafness, autosomal recessive 91 10.2 GJB3 GJB2
27 dermatitis, atopic, 2 10.2 LORICRIN FLG
28 deafness, autosomal dominant 4b 10.2 GJB3 GJB2
29 hodgkin's lymphoma, nodular sclerosis 10.2 GJB3 GJB2
30 erythrokeratodermia variabilis et progressiva 5 10.2
31 papilloma 10.2
32 peripheral nervous system disease 10.2
33 neuropathy 10.2
34 seborrheic dermatitis 10.2 LORICRIN FLG
35 vestibular disease 10.2 GJB3 GJB2
36 leukodystrophy, hypomyelinating, 2 10.2 GJB4 GJA1
37 hypotrichosis-deafness syndrome 10.1 GJB4 GJB3 GJB2
38 deafness, autosomal dominant 3a 10.1 GJB4 GJB3 GJB2
39 ichthyosis, congenital, autosomal recessive 1 10.1 PNPLA1 LORICRIN
40 deafness, autosomal recessive 1a 10.1 GJB4 GJB3 GJB2
41 clear cell acanthoma 10.1 IVL FLG
42 palmoplantar keratoderma, epidermolytic 10.1 LORICRIN GJB3 FLG
43 discoid lupus erythematosus 10.1 IVL FLG
44 pachyonychia congenita 1 10.1 LORICRIN FLG
45 monilethrix 10.0
46 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 10.0
47 vohwinkel syndrome, variant form 10.0
48 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 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:

40
Skin, Brain, T Cells, Endothelial

Publications for Erythrokeratoderma

Articles related to Erythrokeratoderma:

(show top 50) (show all 135)
# Title Authors PMID Year
1
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family. 61
31911611 2020
2
Confirming the recessive inheritance of PERP-related erythrokeratoderma. 61
31898316 2020
3
Loricrin downregulation and epithelial-related disorders: a systematic review. 61
31846220 2019
4
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease. 61
31817921 2019
5
Progressive Symmetrical Erythrokeratoderma Associated with Punctate Palmoplantarkeratoderma. 61
30984600 2019
6
Mutations in PERP Cause Dominant and Recessive Keratoderma. 61
30321533 2019
7
The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification. 61
29799648 2019
8
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. 61
29023646 2018
9
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. 61
28774589 2017
10
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. 61
28635012 2017
11
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. 61
28575652 2017
12
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. 61
27965375 2017
13
Herpes simplex virus in erythrokeratoderma variabilis. 61
28329543 2016
14
Late Onset Progressive Symmetric Erythrokeratoderma with Pseudo Ainhum. 61
27512197 2016
15
Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation. 61
27409001 2016
16
Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function. 61
26632638 2016
17
Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. 61
26338057 2016
18
Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes. 61
26810281 2016
19
Progressive symmetrical erythrokeratoderma on the face: A rare condition and successful treatment with calcipotriol. 61
27051833 2016
20
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. 61
25575739 2015
21
Progressive Symmetric Erythrokeratoderma Having Overlapping Features With Erythrokeratoderma Variabilis and Lesional Hypertrichosis: Is Nomenclature "Erythrokeratoderma Variabilis Progressiva" More Appropriate? 61
26288417 2015
22
Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. 61
25546246 2015
23
Progressive symmetric erythrokeratoderma with dermatophytosis. 61
25035366 2014
24
Progressive symmetric erythrokeratoderma with unusual associations. 61
24891689 2014
25
Progressive symmetric erythrokeratoderma: report of an Indian family. 61
24601895 2014
26
Overview of skin diseases linked to connexin gene mutations. 61
23675785 2014
27
Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes. 61
23678955 2013
28
Progressive symmetric erythrokeratoderma with nephrotic syndrome: Coincidence or new association? 61
24350023 2013
29
Unfolded protein response in keratinocytes: impact on normal and abnormal keratinization. 61
23352280 2013
30
Neutral lipid storage disease with unusual presentation: report of three cases. 61
21575048 2012
31
Expression of bleomycin hydrolase in keratinization disorders. 61
22037625 2012
32
Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. 61
23130264 2012
33
Progressive symmetric erythrokeratodermia with delayed intellectual milestones and convulsions. 61
23130266 2012
34
Progressive symmetrical erythrokeratoderma - response to topical calcipotriol. 61
22187580 2011
35
p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis. 61
21920315 2011
36
Progressive symmetric erythrokeratoderma: report of a Chinese family. 61
21860161 2011
37
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. 61
21564177 2011
38
From progressive symmetric erythrokeratoderma to erythrokeratoderma variabilis progressiva. 61
21496691 2011
39
Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. 61
21188847 2011
40
SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. 61
20854438 2011
41
Progressive and symmetric erythrokeratoderma of adult onset: A rare case. 61
23130195 2010
42
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 61
20236940 2010
43
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. 61
20101161 2010
44
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). 61
22470741 2010
45
Erythrokeratoderma variabilis responding to low-dose isotretinoin. 61
20199434 2010
46
EKV mutant connexin 31 associated cell death is mediated by ER stress. 61
19755382 2009
47
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. 61
19291775 2009
48
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? 61
18950394 2008
49
Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations. 61
18462442 2008
50
Chromosome 6 abnormality with associated dysmorphological features and erythrokeratoderma. 61
18789107 2008

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 LORICRIN 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 gap junction GO:0005921 9.35 GJB5 GJB4 GJB3 GJB2 GJA1
3 cornified envelope GO:0001533 9.33 LORICRIN IVL FLG
4 connexin complex GO:0005922 9.02 GJB5 GJB4 GJB3 GJB2 GJA1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.81 GJB4 GJB3 GJB2 GJA1
2 cell-cell signaling GO:0007267 9.67 GJB4 GJB2 GJA1
3 keratinization GO:0031424 9.65 LORICRIN KRT83 IVL
4 response to ischemia GO:0002931 9.55 GJB2 GJA1
5 response to retinoic acid GO:0032526 9.54 GJB2 GJA1
6 lipid homeostasis GO:0055088 9.52 PNPLA1 ABHD5
7 keratinocyte differentiation GO:0030216 9.5 LORICRIN IVL FLG
8 decidualization GO:0046697 9.46 GJB2 GJA1
9 cornification GO:0070268 9.46 LORICRIN KRT83 IVL FLG
10 gap junction assembly GO:0016264 9.43 GJB2 GJA1
11 peptide cross-linking GO:0018149 9.43 LORICRIN IVL FLG
12 cell communication by electrical coupling GO:0010644 9.4 GJB2 GJA1
13 gap junction-mediated intercellular transport GO:1990349 9.37 GJB4 GJB2
14 epididymis development GO:1905867 9.13 GJB5 GJB2 GJA1
15 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 LORICRIN FLG
3 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB2 GJA1
4 gap junction channel activity GO:0005243 8.92 GJB4 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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