MCID: EPD002
MIFTS: 51

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 50 11 24 13 68 12
Bullous Congenital Ichthyosiform Erythroderma 11 24 68 48
Bullous Ichthyosiform Erythroderma 11 24 68
Hyperkeratosis, Epidermolytic 24 37 66
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 24 68
Bullous Erythroderma Ichthyosiforme 24 25
 
Bcie 24 68
Ehk 24 68
Bie 24 68
Epidermolytic Palmoplantar Hyperkeratosis 11
Epidermolytic Hyperkeratosis Late-Onset 68
Epidermolytic Ichthyosis 24

Characteristics:

HPO:

62
epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 113800
Disease Ontology11 DOID:4603
ICD1028 Q80.3
MeSH37 D017488
NCIt43 C62569

Summaries for Epidermolytic Hyperkeratosis

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OMIM:50 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 scaly skin, scaly skin and palmoplantar hyperkeratosis. An important gene associated with Epidermolytic Hyperkeratosis is KRT1 (Keratin 1), 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, and related mouse phenotype integument.

Genetics Home Reference:24 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).

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 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 100)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic31.6AQP5, KRT1, KRT16, KRT9, LOR
2ichthyosis, cyclic, with epidermolytic hyperkeratosis27.7ABCA12, AQP5, FLG, KRT1, KRT10, KRT16
3krt1-related epidermolytic hyperkeratosis12.1
4krt10-related epidermolytic hyperkeratosis12.1
5epidermolytic ichthyosis11.5
6ichthyosis bullosa of siemens10.7
7bradyopsia10.7KRT1, KRT10
8palmoplantar keratoderma, nonepidermolytic10.6KRT1, KRT16
9white sponge nevus 110.6KRT1, KRT16
10conjunctiva squamous cell carcinoma10.6KRT10, KRT9
11complex lethal osteochondrodysplasia10.6KRT10, KRT16
12basal cell carcinoma 410.6AQP5, KRT1
13acute poisoning by drugs with membrane-stabilizing effect10.5FLG, KRT1
14gastric squamous cell carcinoma10.5KRT10, KRT5
15bullous keratopathy10.5KRT10, KRT16
16epidermolysis bullosa simplex-mp10.4KRT10, KRT5
17pneumonia10.4KRT10, KRT5
18telangiectasia, hereditary hemorrhagic, type 210.4KRT1, KRT10, KRT2
19malignant epithelial mesothelioma10.4KRT10, KRT5
20ichthyosis histrix, curth-macklin type10.4KRT1, KRT10, KRT16
21bladder verrucous squamous cell carcinoma10.4KRT10, KRT5
22ebola hemorrhagic fever10.4KRT1, KRT10, KRT9
23intracranial arteriovenous malformation10.4KRT1, KRT5
24nerve root neoplasm10.4KRT10, KRT5
25nevus comedonicus10.3
26metatypical basal cell carcinoma10.3KRT10, KRT17
27histiocytosis10.3KRT1, KRT16, KRT9
28gilbert syndrome10.3KRT5, KRT9
29freemartinism10.3FLG, KRT1, KRT10
30renal hypodysplasia10.3FLG, KRT1
31otosclerosis10.3KRT16, KRT17
32congenital ichthyosiform erythroderma10.3
33sclerosteosis 110.3KRT16, KRT17
34malignant cystic nephroma10.3KRT1, KRT10, KRT5
35hypertrophic or verrucous lupus erythematosus10.3FLG, KRT10, KRT16
36pachyonychia congenita 210.3KRT16, KRT17
37subacute monocytic leukemia10.3FLG, KRT10, KRT16
38familial lipoprotein lipase deficiency10.3KRT16, KRT17
39stromal keratitis10.2KRT10, KRT5
40epidermolysis bullosa10.2
41fasciolopsiasis10.2FLG, LOR
42cole-carpenter syndrome 110.2KRT10, KRT16
43keratosis10.1
44basal cell carcinoma10.1
45epidermolysis bullosa simplex10.1
46lung sarcoma10.1FLG, KRT16
47cystic basal cell carcinoma10.1FLG, LOR
48craniodiaphyseal dysplasia, autosomal dominant10.1KRT10, KRT16, KRT17
49brachydactyly type a310.1FLG, KRT1, KRT10, KRT2
50epidermal nevus, somatic10.0

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 palmoplantar hyperkeratosis HP:0000972
2 erythroderma HP:0001019
3 abnormal blistering of the skin HP:0008066
4 scaling skin HP:0040189

UMLS symptoms related to Epidermolytic Hyperkeratosis:


scaly skin

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 UMLS66/NDF-RT44:


Cochrane evidence based reviews: hyperkeratosis, epidermolytic

Genetic Tests for Epidermolytic Hyperkeratosis

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Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma25

Anatomical Context for Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

34
Skin

Animal Models for Epidermolytic Hyperkeratosis or affiliated genes

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MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.7ABCA12, KRT1, KRT16, KRT17, KRT5, TGM1

Publications for Epidermolytic Hyperkeratosis

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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. (26373619)
2015
2
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. (26790514)
2015
3
Epidermolytic Hyperkeratosis--case report. (26734873)
2015
4
Systematized linear epidermolytic hyperkeratosis. (24456951)
2014
5
Epidermolytic hyperkeratosis of the vulva associated with basal cell carcinoma in a patient with vaginal condyloma acuminatum and vaginal intraepithelial neoplasia harboring HPV, type 42. (24758505)
2014
6
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. (25436919)
2014
7
Grover Disease With Features of Epidermolytic Hyperkeratosis. (23435360)
2013
8
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. (21463361)
2012
9
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). (22250628)
2012
10
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
11
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (19474805)
2009
12
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
13
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
14
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. (19112765)
2008
15
Epidermolytic hyperkeratosis with a rare digital contracture. (17684790)
2007
16
Epidermolytic hyperkeratosis. (16962021)
2006
17
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
18
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. (16505000)
2006
19
A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits. (15888189)
2005
20
Linear nevus comedonicus with epidermolytic hyperkeratosis. (15239681)
2004
21
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. (12648226)
2003
22
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (12234709)
2002
23
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (10688370)
2000
24
A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. (10084317)
1999
25
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. (10053007)
1999
26
A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (10201536)
1999
27
Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. (10469329)
1999
28
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. (10098704)
1999
29
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. (9742571)
1998
30
An evaluation of the effect of an alpha hydroxy acid-blend skin cream in the cosmetic improvement of symptoms of moderate to severe xerosis, epidermolytic hyperkeratosis, and ichthyosis. (9640557)
1998
31
Epidermolytic hyperkeratosis in the lower female genital tract: an uncommon simulant of mucocutaneous papillomavirus infection--a report of two cases. (9100071)
1997
32
A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis. (8983179)
1996
33
Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. (7525738)
1994
34
Epidermolytic hyperkeratosis: applied molecular genetics. (7509838)
1994
35
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. (7509230)
1993
36
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. (1381287)
1992
37
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. (1284546)
1992
38
Picture of the month. Epidermolytic hyperkeratosis. (3052035)
1988
39
Nevus comedonicus with epidermolytic hyperkeratosis. (3556706)
1987
40
Malignant melanoma in association with keratosis palmaris et plantaris (epidermolytic hyperkeratosis variant). (2978994)
1985
41
Long-term oral treatment of two pronounced ichthyotic conditions: lamellar ichthyosis and epidermolytic hyperkeratosis with the aromatic retinoid, Tigason (RO 10-9359). (6197852)
1983
42
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. (6985700)
1980
43
Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma. (6449393)
1980
44
Epidermolytic hyperkeratosis [proceedings]. (387625)
1979
45
Epidermolytic hyperkeratosis. Incidental findings in the epidermis and in the intraepidermal eccrine sweat duct units. (681571)
1978
46
Familial congenital epidermolytic hyperkeratosis confined to the palms and soles. (4277481)
1974
47
Combined epidermolytic hyperkeratosis and focal acantholytic dyskeratosis. (4814939)
1974
48
Proceedings: Epidermolytic hyperkeratosis. (4764717)
1973
49
Epidermolytic hyperkeratosis. Effect of tretinoin therapy on the clinical course and the basic defects in the stratum corneum. (4697685)
1973
50
Histopathologic concept of epidermolytic hyperkeratosis. (5456015)
1970

Variations for Epidermolytic Hyperkeratosis

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

68 (show all 31)
id Symbol AA change Variation ID SNP ID
1KRT10p.Asn154HisVAR_003826rs57784225
2KRT10p.Arg156HisVAR_003827rs58075662
3KRT10p.Arg156CysVAR_003828rs58852768
4KRT10p.Arg156ProVAR_003829rs58075662
5KRT10p.Arg156SerVAR_003830rs58852768
6KRT10p.Tyr160AspVAR_003831rs58414354
7KRT10p.Leu161SerVAR_003832rs60118264
8KRT10p.Leu442GlnVAR_003833rs58026994
9KRT10p.Met150ArgVAR_010506rs58901407
10KRT10p.Met150ThrVAR_010507rs58901407
11KRT10p.Tyr160AsnVAR_010508
12KRT10p.Tyr160SerVAR_010509rs58735429
13KRT10p.Lys439GluVAR_010510rs61434181
14KRT10p.Tyr449CysVAR_071985rs267607383
15KRT1p.Val155GlyVAR_003853rs57959072
16KRT1p.Leu161ProVAR_003854rs57695159
17KRT1p.Ser186ProVAR_003855rs60022878
18KRT1p.Asn188SerVAR_003856rs58928370
19KRT1p.Ser193ProVAR_003857rs60937700
20KRT1p.Glu490GlnVAR_003861rs60279707
21KRT1p.Val155AspVAR_017820rs57959072
22KRT1p.Asn188LysVAR_017821rs59429455
23KRT1p.Asn188ThrVAR_017822rs58928370
24KRT1p.Leu214ProVAR_017823rs61549035
25KRT1p.Asp340ValVAR_017824rs58062863
26KRT1p.Ile479ThrVAR_017826rs57837128
27KRT1p.Tyr482CysVAR_017827rs58420087
28KRT1p.Leu486ProVAR_017828rs56914602
29KRT1p.Glu478GlnVAR_071986rs59089201
30KRT1p.Leu485ProVAR_071987rs267607430
31KRT1p.Glu490LysVAR_071988rs60279707

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
8.7KRT1, KRT16, KRT17, KRT2, KRT5

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
1keratin filamentGO:004509510.0KRT1, KRT2, KRT5
2cornified envelopeGO:00015339.7LOR, TGM1
3intermediate filamentGO:00058828.4FLG, KRT10, KRT16, KRT17, KRT2, KRT5
4extracellular exosomeGO:00700626.6AQP5, KRT1, KRT10, KRT16, KRT17, KRT2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1keratinocyte migrationGO:005154610.5KRT16, KRT2
2peptide cross-linkingGO:00181499.5LOR, TGM1
3intermediate filament organizationGO:00451099.2KRT17, KRT2, KRT9
4establishment of skin barrierGO:00614369.2ABCA12, FLG, KRT1, KRT16
5cytoskeleton organizationGO:00070109.0KRT16, KRT2, KRT5, LOR
6epidermis developmentGO:00085448.8KRT16, KRT17, KRT2, KRT5, KRT9
7keratinocyte differentiationGO:00302168.1ABCA12, FLG, KRT10, KRT16, LOR, TGM1
8keratinizationGO:00314247.9ABCA12, KRT16, KRT17, KRT2, LOR, TGM1

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of epidermisGO:003028010.3KRT10, LOR
2structural molecule activityGO:00051989.0FLG, KRT1, KRT2, LOR
3structural constituent of cytoskeletonGO:00052008.1KRT16, KRT17, KRT2, KRT5, KRT9, LOR

Sources for Epidermolytic Hyperkeratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet