MCID: EPD002
MIFTS: 52

Epidermolytic Hyperkeratosis malady

Categories: Genetic diseases (common), Skin diseases

Aliases & Classifications for Epidermolytic Hyperkeratosis

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Aliases & Descriptions for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 49 10 11 23 12 67
Bullous Congenital Ichthyosiform Erythroderma 10 23 47 67
Bullous Ichthyosiform Erythroderma 10 23 67
Hyperkeratosis, Epidermolytic 23 36 65
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 23 67
Bullous Erythroderma Ichthyosiforme 23 24
 
Bcie 23 67
Bie 23 67
Ehk 23 67
Epidermolytic Palmoplantar Hyperkeratosis 10
Epidermolytic Hyperkeratosis Late-Onset 67
Epidermolytic Ichthyosis 23

Characteristics:

HPO:

61
epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 113800
Disease Ontology10 DOID:4603
ICD1027 Q80.3
MeSH36 D017488
NCIt42 C62569
UMLS65 C0079153

Summaries for Epidermolytic Hyperkeratosis

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OMIM:49 Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a... (113800) more...

MalaCards based summary: Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to palmoplantar keratoderma, epidermolytic and ichthyosis, cyclic, with epidermolytic hyperkeratosis, and has symptoms including scaling skin, abnormal blistering of the skin and erythroderma. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways is Cytoskeleton remodeling Neurofilaments. The drugs eucerin and eucerite have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and t cells.

UniProtKB/Swiss-Prot:67 Epidermolytic hyperkeratosis: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.

Genetics Home Reference:23 Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).

Wikipedia:68 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

Related Diseases for Epidermolytic Hyperkeratosis

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Diseases in the Epidermolytic Hyperkeratosis family:

Krt1-Related Epidermolytic Hyperkeratosis Krt10-Related Epidermolytic Hyperkeratosis

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

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic31.2AQP5, FLG, KRT1, KRT10, KRT16, KRT9
2ichthyosis, cyclic, with epidermolytic hyperkeratosis30.2ABCA12, AQP5, FLG, KRT1, KRT10, KRT16
3krt1-related epidermolytic hyperkeratosis12.5
4krt10-related epidermolytic hyperkeratosis12.5
5ichthyosis, congenital, autosomal recessive 212.1
6epidermolytic ichthyosis11.6
7glioblastoma10.5
8epidermal nevus, somatic10.5
9ichthyosis bullosa of siemens10.5
10palmoplantar keratoderma, bothnian type10.5
11frontotemporal lobar degeneration with ubiquitin-positive inclusions10.4KRT1, KRT10
12telangiectasia, hereditary hemorrhagic, type 210.4KRT1, KRT2
13colorectal cancer10.4
14hiv-110.4
15hepatocellular carcinoma10.4
16renal cell carcinoma10.4
17gastric cancer10.4
18retinal vein occlusion10.4
19ovarian cancer10.4
20cerebritis10.4
21retinitis10.4
22pancreatitis10.4
23endotheliitis10.4
24palmoplantar keratoderma, nonepidermolytic10.4KRT1, KRT9
25white sponge nevus 110.4KRT1, KRT9
26sclerosteosis 110.4KRT10, KRT16
27wilson disease10.3
28menkes disease10.3
29pilar sheath acanthoma10.3KRT10, KRT5
30rectal disease10.3
31adenocarcinoma10.3
32breast adenocarcinoma10.3
33braddock syndrome10.3FLG, KRT1
34pre-descemet corneal dystrophy10.3KRT2, KRT5
35nasal cavity squamous cell carcinoma10.3KRT10, KRT5
36sarcomatoid mesothelioma10.3KRT10, KRT5
37venous hemangioma10.3FLG, KRT10
38clove syndrome, somatic10.2KRT10, KRT5
39retinitis pigmentosa 3010.2KRT1, KRT10, KRT16
40acantholytic acanthoma10.2KRT1, KRT10, KRT9
41ichthyosis histrix, curth-macklin type10.2KRT1, KRT10, KRT9
42perineurioma10.2KRT10, KRT5
43drug psychosis10.2KRT1, KRT10, KRT9
44malaria10.2
45lung cancer10.2
46breast cancer10.2
47obesity10.2
48osteoporosis10.2
49chordoma10.2
50acrodermatitis enteropathica10.2

Graphical network of the top 20 diseases related to Epidermolytic Hyperkeratosis:



Diseases related to epidermolytic hyperkeratosis

Symptoms for Epidermolytic Hyperkeratosis

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Symptoms by clinical synopsis from OMIM:

113800

Clinical features from OMIM:

113800

HPO human phenotypes related to Epidermolytic Hyperkeratosis:

id Description Frequency HPO Source Accession
1 scaling skin HP:0040189
2 abnormal blistering of the skin HP:0008066
3 erythroderma HP:0001019
4 palmoplantar hyperkeratosis HP:0000972

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: hyperkeratosis, epidermolytic

Genetic Tests for Epidermolytic Hyperkeratosis

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Anatomical Context for Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

33
Skin, Endothelial, T cells, Prostate, Neutrophil, Placenta, B cells

Animal Models for Epidermolytic Hyperkeratosis or affiliated genes

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Publications for Epidermolytic Hyperkeratosis

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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Tubal ectopic pregnancy: our experience from 2000 to 2013. (26422433)
2015
2
Persistent ascites resolving with gonadotropin-releasing-hormone-agonist 18A months after hospitalization for severe ovarian hyperstimulation syndrome. (23846619)
2014
3
Left-sided Poland's syndrome in a girl with rare associations like spina bifida and diaphragmatic hernia. (24057335)
2013
4
Alexithymia and fibromyalgia: clinical evidence. (24348453)
2013
5
Abstracts of the 2013 International Headache Congress, 27-30 June 2013, Boston, MA, USA. (23804307)
2013
6
Haemolytic-uraemic syndrome during severe lupus nephritis: efficacy of plasma exchange. (22276560)
2012
7
Comparison of corneal thickness of young people with middle and high myopia between Shantou and Zhengzhou. (22447552)
2012
8
Psychological burden in adult neurofibromatosis type 1 patients: impact of disease visibility on body image. (22508340)
2012
9
ERK5 and its role in tumour development. (22260700)
2012
10
SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature. (20674419)
2011
11
MicroRNA-31 regulated by the extracellular regulated kinase is involved in vascular smooth muscle cell growth via large tumor suppressor homolog 2. (22020941)
2011
12
Type 2 diabetes risk allele near CENTD2 is associated with decreased glucose-stimulated insulin release. (21267535)
2011
13
Erlotinib-induced hepatitis complicated by fatal lactic acidosis in an elderly man with lung cancer. (19261961)
2009
14
EDA gene mutations underlie non-syndromic oligodontia. (19278982)
2009
15
Intranuclear coccidiosis in a calf. (19721369)
2009
16
Characterization of the immune escape phenotype of human gastric cancers with and without high-frequency microsatellite instability. (17318812)
2007
17
Adherence to evidence-based statin guidelines reduces the risk of hospitalizations for acute myocardial infarction by 40%: a cohort study. (17158123)
2007
18
Insulin inhibits phagocytosis in normal human neutrophils via PKCalpha/beta-dependent priming of F-actin assembly. (16673150)
2006
19
Expression of c-kit messenger ribonucleic acid and c-kit protein in sigmoid colon of patients with slow transit constipation. (15688149)
2005
20
Analysis of LRRK2 functional domains in nondominant Parkinson disease. (16247070)
2005
21
Immunogenicity and contraceptive potential of recombinant human sperm associated antigen (SPAG9). (16143403)
2005
22
The use of a differential fluorescent staining method to detect bacteriuria. (15575310)
2004
23
Establishment of early lymphoid organ infrastructure in transplanted tumors mediated by local production of lymphotoxin alpha and in the combined absence of functional B and T cells. (15034015)
2004
24
Complex between nidogen and laminin fragments reveals a paradigmatic beta-propeller interface. (12931195)
2003
25
The inositol 5'-phosphatase SHIP-1 and the Src kinase Lyn negatively regulate macrophage colony-stimulating factor-induced Akt activity. (12882960)
2003
26
The genomic organization of mouse resistin reveals major differences from the human resistin: functional implications. (12594039)
2003
27
Erythromelalgia precipitated by acral erythema in the setting of thrombocytopenia. (12789198)
2003
28
Ribozyme-mediated attenuation of survivin expression sensitizes human melanoma cells to cisplatin-induced apoptosis. (11805141)
2002
29
The role of protein kinase C in the transient association of p57, a coronin family actin-binding protein, with phagosomes. (12132654)
2002
30
p73beta is regulated by protein kinase Cdelta catalytic fragment generated in the apoptotic response to DNA damage. (12097319)
2002
31
Effect of second and third generation oral contraceptives on lipid metabolism in the absence or presence of the factor V Leiden mutation. (11887980)
2001
32
Identification of a novel human peroxisomal 2,4-dienoyl-CoA reductase related protein using the M13 phage protein VI phage display technology. (11669066)
2001
33
Human T-cell leukemia virus type 1 Tax protein binds to assembled nuclear proteasomes and enhances their proteolytic activity. (11602750)
2001
34
Verapamil stimulates glutathione transport by the 190-kDa multidrug resistance protein 1 (MRP1). (10773025)
2000
35
Effect of microsomal triglyceride transfer protein gene variants (-493G > T, Q95H and H297Q) on plasma lipid levels in healthy middle-aged UK men. (11415512)
2000
36
Mitochondrial localization and oligomeric structure of HClpP, the human homologue of E. coli ClpP. (10525407)
1999
37
Obligatory cross-talk with the tyrosine kinases assembled with the TCR/CD3 complex in CD4 signal transduction. (10458777)
1999
38
Role of female sex steroids in regulating cholesteryl ester transfer protein in transgenic mice. (9751231)
1998
39
Effect of nitric oxide and cell redox status on the regulation of endothelial cell xanthine dehydrogenase. (7762682)
1995
40
Molecular characterization of nephrogenic diabetes insipidus. (18407239)
1994
41
Regulation of phospholipase A2 activity in undifferentiated and neutrophil-like HL60 cells. Linkage between impaired responses to agonists and absence of protein kinase C-dependent phosphorylation of cytosolic phospholipase A2. (8300648)
1994
42
The effect of luteinizing hormone-releasing hormone analog for central precocious puberty on growth hormone (GH) and GH-binding protein. (8126139)
1994
43
Twenty-four-hour power spectral analysis by maximum entropy method of blood pressure in primary hyperaldosteronism. (8205312)
1993
44
Long-term follow-up of patients with chronic hepatitis C treated with different doses of interferon-alpha 2b. (7694894)
1993
45
A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. (2123470)
1990
46
Focal perivascular alterations of white matter in herpes simplex encephalitis--a histological and immunocytochemical study. (3023729)
1986
47
Mercury poisoning: a probable cause of Isaac Newton's physical and mental ills. (11610639)
1979
48
Adenovirus type 21 bronchopneumonia in infants and young children. (225460)
1979
49
Phenol-Soluble Antigens from Mycobacterium kansasii, Mycobacterium gastri, and Mycobacterium marinum. (16557943)
1971
50
Observations on the treatment and its results in bronchopneumonia in children. (14488500)
1962

Variations for Epidermolytic Hyperkeratosis

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UniProtKB/Swiss-Prot genetic disease variations for Epidermolytic Hyperkeratosis:

67 (show all 31)
id Symbol AA change Variation ID SNP ID
1KRT10p.Asn154HisVAR_003826rs57784225
2KRT10p.Arg156HisVAR_003827rs58075662
3KRT10p.Arg156CysVAR_003828
4KRT10p.Arg156ProVAR_003829
5KRT10p.Arg156SerVAR_003830rs58852768
6KRT10p.Tyr160AspVAR_003831rs58414354
7KRT10p.Leu161SerVAR_003832rs60118264
8KRT10p.Leu442GlnVAR_003833rs58026994
9KRT10p.Met150ArgVAR_010506rs58901407
10KRT10p.Met150ThrVAR_010507
11KRT10p.Tyr160AsnVAR_010508
12KRT10p.Tyr160SerVAR_010509rs58735429
13KRT10p.Lys439GluVAR_010510rs61434181
14KRT10p.Tyr449CysVAR_071985
15KRT1p.Val155GlyVAR_003853rs57959072
16KRT1p.Leu161ProVAR_003854rs57695159
17KRT1p.Ser186ProVAR_003855rs60022878
18KRT1p.Asn188SerVAR_003856rs58928370
19KRT1p.Ser193ProVAR_003857rs60937700
20KRT1p.Glu490GlnVAR_003861rs60279707
21KRT1p.Val155AspVAR_017820
22KRT1p.Asn188LysVAR_017821rs59429455
23KRT1p.Asn188ThrVAR_017822
24KRT1p.Leu214ProVAR_017823rs61549035
25KRT1p.Asp340ValVAR_017824rs58062863
26KRT1p.Ile479ThrVAR_017826rs57837128
27KRT1p.Tyr482CysVAR_017827rs58420087
28KRT1p.Leu486ProVAR_017828rs56914602
29KRT1p.Glu478GlnVAR_071986
30KRT1p.Leu485ProVAR_071987
31KRT1p.Glu490LysVAR_071988

Clinvar genetic disease variations for Epidermolytic Hyperkeratosis:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1KRT10KRT10, ARG10HISsingle nucleotide variantPathogenic
2NM_000421.3(KRT10): c.482T> C (p.Leu161Ser)single nucleotide variantPathogenicrs60118264GRCh37Chr 17, 38978356: 38978356
3KRT10KRT10, ARG10LEUundetermined variantPathogenic
4NM_000421.3(KRT10): c.460A> C (p.Asn154His)single nucleotide variantPathogenicrs57784225GRCh37Chr 17, 38978378: 38978378
5NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp)single nucleotide variantPathogenicrs58414354GRCh37Chr 17, 38978360: 38978360
6NM_000421.3(KRT10): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs58075662GRCh37Chr 17, 38978371: 38978371
7KRT10KRT10, ARG10CYSundetermined variantPathogenic
8NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln)single nucleotide variantPathogenicrs58026994GRCh37Chr 17, 38975817: 38975817
9NM_000421.3(KRT10): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs58852768GRCh37Chr 17, 38978372: 38978372
10NM_000421.3(KRT10): c.449T> G (p.Met150Arg)single nucleotide variantPathogenicrs58901407GRCh37Chr 17, 38978389: 38978389
11NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu)single nucleotide variantPathogenicrs61434181GRCh37Chr 17, 38975827: 38975827
12NM_000421.3(KRT10): c.449T> C (p.Met150Thr)single nucleotide variantPathogenicrs58901407GRCh37Chr 17, 38978389: 38978389
13KRT1NM_006121.3(KRT1): c.931G> C (p.Glu311Gln)single nucleotide variantPathogenicrs137853224GRCh37Chr 12, 53071466: 53071466
14KRT1NM_006121.3(KRT1): c.482T> C (p.Leu161Pro)single nucleotide variantPathogenicrs57695159GRCh37Chr 12, 53073651: 53073651
15KRT1NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys)single nucleotide variantPathogenicrs58420087GRCh37Chr 12, 53070089: 53070089
16KRT1NM_006121.3(KRT1): c.464T> A (p.Val155Asp)single nucleotide variantPathogenicrs57959072GRCh37Chr 12, 53073669: 53073669
17KRT1NM_006121.3(KRT1): c.564C> A (p.Asn188Lys)single nucleotide variantPathogenicrs59429455GRCh37Chr 12, 53073569: 53073569
18KRT1NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro)single nucleotide variantPathogenicrs137853225GRCh37Chr 12, 53070110: 53070110
19NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter)single nucleotide variantPathogenicrs60035576GRCh37Chr 17, 38975842: 38975842
20NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter)single nucleotide variantPathogenicrs387906640GRCh37Chr 17, 38975861: 38975861
21KRT10KRT10, 1-BP INS, 1325CinsertionPathogenic
22KRT10KRT10, IVS5DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Epidermolytic Hyperkeratosis

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Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.

Pathways for genes affiliated with Epidermolytic Hyperkeratosis

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Pathways related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.6KRT1, KRT16, KRT2, KRT5, KRT6A

GO Terms for genes affiliated with Epidermolytic Hyperkeratosis

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Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.6KRT10, KRT2, KRT9
2keratin filamentGO:00450958.9KRT1, KRT2, KRT5, KRT6A

Biological processes related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:00451049.2KRT16, KRT6A
2keratinocyte differentiationGO:00302168.9ABCA12, TGM1
3establishment of skin barrierGO:00614368.9ABCA12, FLG, KRT16

Molecular functions related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.7FLG, KRT16, KRT6A, LOR

Sources for Epidermolytic Hyperkeratosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet