MCID: EPD002
MIFTS: 64

Epidermolytic Hyperkeratosis malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Epidermolytic Hyperkeratosis

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 39NCIt, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 46 8 9 42 21 10 48
Bullous Congenital Ichthyosiform Erythroderma 8 42 21 44 48
Bullous Ichthyosiform Erythroderma 8 42 21
Epidermolytic Ichthyosis 42 21 48
Bcie 42 21 48
Ehk 42 21 48
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 42 21
Bullous Congenital Ichthyosiform Erythroderma of Brock 42 48
 
Bullous Erythroderma Ichthyosiforme 21 22
Hyperkeratosis, Epidermolytic 21 61
Bullous Ichthyosis 42 48
Bie 42 21
Ei 42 48
Congenital Bullous Ichthyosiform Erythroderma 42
Bullous Ichthyosiform Erythroderma Congenita 42
Epidermolytic Palmoplantar Hyperkeratosis 8


Classifications:

Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
epidermolytic hyperkeratosis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal


External Ids:

OMIM46 113800
Disease Ontology8 DOID:4603
NCIt39 C62569
Orphanet48 312
ICD10 via Orphanet26 Q80.3
UMLS via Orphanet62 C0079153
ICD1025 Q80.3

Summaries for Epidermolytic Hyperkeratosis

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OMIM:46 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 ichthyosis, cyclic, with epidermolytic hyperkeratosis and ichthyosis bullosa of siemens, and has symptoms including weight loss, ichthyosis and abnormal blistering of the skin. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (keratin 10), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The drugs urea and carbamide peroxide and the compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:21 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).

NIH Rare Diseases:42 Epidermolytic hyperkeratosis is a genetic skin disorder. it is characterized by widespread blistering and skin that is reddened, dry, thickened, and scaly (ichthyotic erythroderma). it is caused by mutations in the krt1 or krt10 genes. it has an autosomal dominant pattern of inheritance. last updated: 11/30/2011

Wikipedia:64 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 133)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, cyclic, with epidermolytic hyperkeratosis31.4KRT10, KRT1
2ichthyosis bullosa of siemens31.3KRT2
3congenital ichthyosiform erythroderma31.0TGM1, LOR
4palmoplantar keratoderma, epidermolytic30.8KRT9, KRT16, KRT1
5epidermolysis bullosa30.5FLG, KRT5
6basal cell carcinoma30.4TCHH, IVL, KRT10, KRT16
7leukoplakia30.3FLG, IVL, KRT1
8keratoderma30.2KRT1, KRT9, KRT16, TGM1, LOR
9lichen planus29.9KRT1, KRT10, FLG, IVL, KRT16
10keratosis29.7IVL, KRT16, KRT86, KRT1, KRT10, LOR
11adenocarcinoma29.5KRT5, KRT1, KRT10, IVL
12psoriasis28.9KRT16, KRT5, KRT1, KRT10, FLG, TGM1
13epidermolysis bullosa simplex28.7IVL, KRT2, KRT81, FLG, KRT1, KRT86
14skin disease28.1KRT5, KRT16, KRT9, KRT1, KRT10, TCHH
15retinitis pigmentosa10.9
16retinitis pigmentosa autosomal recessive10.7
17retinitis pigmentosa 2510.6
18ophthalmoplegia10.6
19internuclear ophthalmoplegia10.5
20retinitis10.5
21epidermolytic acanthoma10.5KRT1
22vohwinkel syndrome10.5LOR
23cone-rod dystrophy10.5
24chylomicron retention disease10.5
25leber congenital amaurosis 410.5
26cone-rod dystrophy 610.5
27refsum disease10.5
28pigmentary retinopathy10.5
29rhyns syndrome10.5
30vohwinkel syndrome with ichthyosis10.5LOR
31hailey-hailey disease10.4IVL
32colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.4TCHH
33krt1-related epidermolytic hyperkeratosis10.4
34krt10-related epidermolytic hyperkeratosis10.4
35fibrous histiocytoma10.4
36ocular albinism10.4
37histiocytoma10.4
38sarcoma10.4
39albinism10.4
40undifferentiated pleomorphic sarcoma10.4
41fibroma10.3IVL, KRT1
42netherton syndrome10.3
43ectodermal dysplasia-syndactyly syndrome 210.3
44ichthyosis histrix, curth-macklin type10.3
45white sponge nevus 110.3KRT9, KRT2
46steatocystoma multiplex10.3KRT10, KRT16
47monilethrix10.3KRT86, KRT81
48keratoacanthoma10.3IVL, KRT10
49unna-thost palmoplantar keratoderma10.2KRT16, KRT9
50oculocutaneous albinism10.2

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

Symptoms:

 48 (show all 10)
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • autosomal dominant inheritance
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • pigmented naevi/naevus pigmentosus/lentigo
  • palmoplantar hyperkeratosis/keratoderma
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/conjunctival hamartomas

HPO human phenotypes related to Epidermolytic Hyperkeratosis:

(show all 11)
id Description Frequency HPO Source Accession
1 weight loss hallmark (90%) HP:0001824
2 ichthyosis hallmark (90%) HP:0008064
3 abnormal blistering of the skin hallmark (90%) HP:0008066
4 melanocytic nevus typical (50%) HP:0000995
5 palmoplantar keratoderma occasional (7.5%) HP:0000982
6 conjunctival hamartoma occasional (7.5%) HP:0100780
7 skin ulcer occasional (7.5%) HP:0200042
8 autosomal dominant inheritance HP:0000006
9 palmoplantar hyperkeratosis HP:0000972
10 erythroderma HP:0001019
11 abnormal blistering of the skin HP:0008066

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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Drug clinical trials:

Search ClinicalTrials for Epidermolytic Hyperkeratosis

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Epidermolytic Hyperkeratosis

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Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma22

Anatomical Context for Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

31
Skin

Animal Models for Epidermolytic Hyperkeratosis or affiliated genes

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MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.4KRT5, KRT9, KRT10, KRT2
2MP:00053828.9FLG, KRT2, KRT10, KRT16, KRT5
3MP:00053788.1TGM1, FLG, LOR, KRT10, KRT1, KRT9
4MP:00107717.8KRT5, TGM1, FLG, LOR, KRT2, KRT10

Publications for Epidermolytic Hyperkeratosis

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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Systematized linear epidermolytic hyperkeratosis. (24456951)
2014
2
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. (21463361)
2012
3
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). (22250628)
2012
4
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
5
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
6
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. (22068776)
2011
7
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. (21496707)
2011
8
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (19474805)
2009
9
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
10
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
11
Epidermolytic hyperkeratosis. (16962021)
2006
12
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
13
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. (16677804)
2006
14
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. (15663507)
2005
15
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (12234709)
2002
16
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. (11558869)
2001
17
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (10688370)
2000
18
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
19
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. (10053007)
1999
20
A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (10201536)
1999
21
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. (10597140)
1999
22
Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. (10469329)
1999
23
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. (9742571)
1998
24
Epidermolytic hyperkeratosis in the lower female genital tract: an uncommon simulant of mucocutaneous papillomavirus infection--a report of two cases. (9100071)
1997
25
Oral erosive lichen planus with epidermolytic hyperkeratosis during interferon alfa-2b therapy for chronic hepatitis C virus infection. (9204077)
1997
26
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. (8751983)
1996
27
Epidermolytic hyperkeratosis of the nails in keratosis palmoplantaris nummularis. (8615066)
1995
28
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. (7523529)
1994
29
Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. (7513736)
1994
30
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. (7507151)
1994
31
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. (7507150)
1994
32
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (7512983)
1994
33
Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. (7525738)
1994
34
Incidental epidermolytic hyperkeratosis in progressive systemic sclerosis. (8478498)
1993
35
Acral epidermolytic hyperkeratosis. (8471521)
1993
36
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. (7509230)
1993
37
Epidermolytic hyperkeratosis treated with etretinate. (2070649)
1991
38
Congenital epidermolytic hyperkeratosis associated with multiple malignancies. (2700664)
1989
39
Leukoplakia of the prepuce with epidermolytic hyperkeratosis: a case report. (6198860)
1983
40
Long-term oral treatment of two pronounced ichthyotic conditions: lamellar ichthyosis and epidermolytic hyperkeratosis with the aromatic retinoid, Tigason (RO 10-9359). (6197852)
1983
41
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. (6985700)
1980
42
Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma. (6449393)
1980
43
Nevoid follicular epidermolytic hyperkeratosis. (123434)
1975
44
Familial congenital epidermolytic hyperkeratosis confined to the palms and soles. (4277481)
1974
45
Combined epidermolytic hyperkeratosis and focal acantholytic dyskeratosis. (4814939)
1974
46
Proceedings: Epidermolytic hyperkeratosis. (4764717)
1973
47
Epidermolytic hyperkeratosis. Effect of tretinoin therapy on the clinical course and the basic defects in the stratum corneum. (4697685)
1973
48
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
49
Histopathologic concept of epidermolytic hyperkeratosis. (5456015)
1970
50
Epidermolytic hyperkeratosis. (5350420)
1969

Variations for Epidermolytic Hyperkeratosis

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

63 (show all 30)
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.Tyr160AsnVAR_010508
11KRT10p.Tyr160SerVAR_010509rs58735429
12KRT10p.Lys439GluVAR_010510rs61434181
13KRT10p.Tyr449CysVAR_071985
14KRT1p.Val155GlyVAR_003853rs57959072
15KRT1p.Leu161ProVAR_003854rs57695159
16KRT1p.Ser186ProVAR_003855rs60022878
17KRT1p.Asn188SerVAR_003856rs58928370
18KRT1p.Ser193ProVAR_003857rs60937700
19KRT1p.Glu490GlnVAR_003861rs60279707
20KRT1p.Val155AspVAR_017820
21KRT1p.Asn188LysVAR_017821rs59429455
22KRT1p.Asn188ThrVAR_017822
23KRT1p.Leu214ProVAR_017823rs61549035
24KRT1p.Asp340ValVAR_017824rs58062863
25KRT1p.Ile479ThrVAR_017826rs57837128
26KRT1p.Tyr482CysVAR_017827rs58420087
27KRT1p.Leu486ProVAR_017828rs56914602
28KRT1p.Glu478GlnVAR_071986
29KRT1p.Leu485ProVAR_071987
30KRT1p.Glu490LysVAR_071988

Clinvar genetic disease variations for Epidermolytic Hyperkeratosis:

5 (show all 25)
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
13NM_000421.3(KRT10): c.1264_1265delCGinsGA (p.Arg422Glu)indelPathogenicrs59075499GRCh37Chr 17, 38975877: 38975878
14KRT1NM_006121.3(KRT1): c.931G> C (p.Glu311Gln)single nucleotide variantPathogenicrs137853224GRCh37Chr 12, 53071466: 53071466
15KRT1NM_006121.3(KRT1): c.482T> C (p.Leu161Pro)single nucleotide variantPathogenicrs57695159GRCh37Chr 12, 53073651: 53073651
16KRT1NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys)single nucleotide variantPathogenicrs58420087GRCh37Chr 12, 53070089: 53070089
17KRT1NM_006121.3(KRT1): c.1436T> C (p.Ile479Thr)single nucleotide variantPathogenicrs57837128GRCh37Chr 12, 53070098: 53070098
18KRT1NM_006121.3(KRT1): c.1435A> T (p.Ile479Phe)single nucleotide variantPathogenicrs61218439GRCh37Chr 12, 53070099: 53070099
19KRT1NM_006121.3(KRT1): c.464T> A (p.Val155Asp)single nucleotide variantPathogenicrs57959072GRCh37Chr 12, 53073669: 53073669
20KRT1NM_006121.3(KRT1): c.564C> A (p.Asn188Lys)single nucleotide variantPathogenicrs59429455GRCh37Chr 12, 53073569: 53073569
21KRT1NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro)single nucleotide variantPathogenicrs137853225GRCh37Chr 12, 53070110: 53070110
22NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter)single nucleotide variantPathogenicrs60035576GRCh37Chr 17, 38975842: 38975842
23NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter)single nucleotide variantPathogenicrs387906640GRCh37Chr 17, 38975861: 38975861
24KRT10KRT10, 1-BP INS, 1325CinsertionPathogenic
25KRT10KRT10, 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 pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT5, KRT16, KRT1, KRT2

Compounds for genes affiliated with Epidermolytic Hyperkeratosis

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

(show all 38)
idCompoundScoreTop Affiliating Genes
1tazarotene44 1111.1KRT1, KRT2, KRT10
2isotretinoin44 1111.0KRT16, KRT10, KRT1
3ceramides449.9KRT1, IVL
4arsenate449.9IVL, FLG
5cholesterol-sulfate44 1110.8IVL, TGM1
6monodansylcadaverine449.8IVL, TGM1
7acitretin44 1110.8IVL, KRT5
8methylcellulose449.7IVL, KRT10
9collodion449.7LOR, TGM1, IVL
10epsilon-(gamma-glutamyl)lysine449.7LOR, TGM1, IVL
11tcdd449.6KRT10, IVL
12nicotine44 28 50 1112.6IVL, KRT1, FLG
13urea44 24 1111.5IVL, FLG, KRT5
14dithranol449.5IVL, FLG, KRT10, KRT16
15bromodeoxyuridine449.5IVL, KRT10, FLG, KRT1
16progesterone44 28 60 24 1113.4KRT10, KRT1, KRT5, TGM1
17citrulline44 2410.4FLG, TCHH
18histidine449.4LOR, FLG, KRT10, KRT9, KRT5
1912-o-tetradecanoylphorbol 13-acetate449.4KRT5, KRT1, IVL
201,25 dihydroxy vitamin d3449.3KRT16, KRT10, IVL, TGM1
21sodium dodecylsulfate449.3TGM1, IVL, KRT16, KRT1
22gf 109203x44 6010.3TGM1, KRT10, FLG, IVL
23hematoxylin449.3IVL, LOR, FLG, KRT10, KRT1
24paraffin449.1IVL, KRT5, KRT10, KRT16, KRT1
25calcitriol44 60 24 1112.0FLG, KRT16, TGM1, KRT10, IVL
26vitamin d449.0IVL, KRT10, TGM1
27glutamine449.0IVL, KRT9, TGM1, LELP1
28vitamin a44 24 1111.0KRT16, LOR, TGM1, KRT5, LELP1
29lipid448.8KRT1, IVL, TGM1, FLG, LOR
30calcipotriol44 60 28 1111.7FLG, KRT5, IVL, TGM1, KRT10, KRT16
31lysine448.7KRT5, IVL, LELP1, KRT2, KRT86, KRT1
32steroid448.6TGM1, FLG, LOR, KRT10, KRT1, KRT16
33serine448.5LOR, KRT5, KRT16, KRT1, KRT10, IVL
34retinoid448.2KRT5, IVL, TGM1, KRT2, KRT10, FLG
35arginine448.2KRT10, KRT5, KRT9, KRT1, TGM1, FLG
36proline447.8KRT16, LOR, KRT10, KRT1, KRT5, LELP1
37retinoic acid44 248.3FLG, KRT10, SPRR1B, IVL, TGM1, LOR
38calcium44 50 24 119.5KRT5, TCHH, LOR, IVL, SPRR1B, TGM1

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
1extracellular spaceGO:00056158.9KRT2, KRT10, KRT1, KRT86, KRT9, KRT81
2intermediate filamentGO:00058828.7FLG, KRT2, KRT10, KRT9, KRT16, KRT5
3cornified envelopeGO:00015338.6SPRR1B, IVL, TGM1, LOR
4keratin filamentGO:00450958.4KRT5, KRT81, KRT2, KRT10, KRT1, KRT86
5extracellular vesicular exosomeGO:00700627.6IVL, TGM1, KRT2, KRT10, KRT1, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1peptide cross-linkingGO:00181498.7LOR, TGM1, IVL, SPRR1B
2epidermis developmentGO:00085448.3SPRR1B, KRT2, KRT9, KRT16, KRT5
3keratinocyte differentiationGO:00302168.0SPRR1B, IVL, TGM1, FLG, LOR, KRT10
4keratinizationGO:00314247.6KRT2, LOR, TCHH, TGM1, IVL, SPRR1B

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

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:00306749.1LOR, IVL, SPRR1B
2structural constituent of cytoskeletonGO:00052008.7LOR, KRT2, KRT9, KRT16, KRT5
3structural molecule activityGO:00051987.8KRT86, KRT1, KRT81, LOR, FLG, IVL

Sources for Epidermolytic Hyperkeratosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet