EI
MCID: EPD002
MIFTS: 72

Epidermolytic Hyperkeratosis (EI) malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Epidermolytic Hyperkeratosis

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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).

MalaCards based summary: Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to ichthyosis bullosa of siemens and ichthyosis, cyclic, with epidermolytic hyperkeratosis, and has symptoms including hyperkeratosis/ainhum/hyperkeratotic skin fissures, ichthyosis/ichthyosiform dermatitis and erythema/erythematous lesions/erythroderma/polymorphous erythema. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (keratin 10), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The drugs eucerin and eucerite and the compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and growth/size/body.

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

CDC:3 The Epidemic Intelligence Service (EIS) is a unique 2-year post-graduate training program of service and on-the-job learning for health professionals interested in the practice of applied epidemiology.

Wikipedia:65 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

Descriptions from OMIM:46 113800,607602

Aliases & Classifications for Epidermolytic Hyperkeratosis

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 34MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Epidermolytic Hyperkeratosis, Aliases & Descriptions:

Name: Epidermolytic Hyperkeratosis 8 9 42 21 46 10 48
Bullous Congenital Ichthyosiform Erythroderma 8 42 21 44 48 62
Bullous Ichthyosiform Erythroderma 8 42 22 21
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 42 21 62
Bcie 42 21 48
Ehk 42 21 48
Congenital Bullous Ichthyosiform Erythroderma 42 62
Epidermolytic Ichthyosis 21 48
Bie 42 21
 
Bullous Congenital Ichthyosiform Erythroderma of Brock 48
Bullous Ichthyosiform Erythroderma Congenita 42
Epidermolytic Palmoplantar Hyperkeratosis 8
Bullous Erythroderma Ichthyosiforme 21
Hyperkeratosis, Epidermolytic 21
Congenital Ichthyosis 62
Bullous Ichthyosis 48
Ei 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
epidermolytic hyperkeratosis:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:4603
NCIt39 C62569
ICD10 via Orphanet26 Q80.3
UMLS via Orphanet63 C0079153
ICD1025 Q80.3

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/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis bullosa of siemens31.3KRT2
2ichthyosis, cyclic, with epidermolytic hyperkeratosis31.2KRT1, KRT10
3palmoplantar keratoderma, epidermolytic30.8KRT9, KRT16, KRT1
4congenital ichthyosiform erythroderma30.8TGM1, LOR
5epidermolysis bullosa30.7FLG, KRT5
6leukoplakia30.5IVL, FLG, KRT1
7basal cell carcinoma30.3KRT16, IVL, TCHH, KRT10
8keratoderma30.3KRT1, KRT9, KRT16, LOR, TGM1
9lichen planus30.1IVL, KRT16, KRT1, KRT10, FLG
10keratosis29.9IVL, FLG, LOR, KRT10, KRT1, KRT86
11adenocarcinoma29.4KRT5, IVL, JAK2, KRT10, KRT1
12epidermolysis bullosa simplex29.1IVL, FLG, KRT81, KRT16, KRT5, KRT9
13psoriasis29.0IVL, LELP1, TGM1, KRT5, KRT16, KRT1
14skin disease28.2SPRR1B, IVL, LELP1, TGM1, KRT16, KRT9
15retinitis pigmentosa10.6
16ophthalmoplegia10.6
17epidermolytic acanthoma10.6KRT1
18internuclear ophthalmoplegia10.5
19retinitis10.5
20vohwinkel syndrome10.5LOR
21vohwinkel syndrome with ichthyosis10.5LOR
22epidermal nevus10.5
23hailey-hailey disease10.5IVL
24pilomatrixoma10.4TCHH
25retinitis pigmentosa 2510.4
26fibrous histiocytoma10.4
27ocular albinism10.4
28noonan syndrome10.4
29histiocytoma10.4
30sarcoma10.4
31seborrheic keratosis10.4
32albinism10.4
33fibroma10.4KRT1, IVL
34hereditary mucosal leukokeratosis10.3KRT9, KRT2
35krt1-related epidermolytic hyperkeratosis10.3
36krt10-related epidermolytic hyperkeratosis10.3
37netherton syndrome10.3
38generalized pustular psoriasis10.3
39ichthyosis histrix, curth-macklin type10.3
40ichthyosis, congenital, autosomal recessive 210.3
41steatocystoma multiplex10.3KRT10, KRT16
42monilethrix10.3KRT81, KRT86
43keratoacanthoma10.3KRT10, IVL
44diffuse palmoplantar keratoderma, bothnian type10.3KRT16, KRT9
45irritant dermatitis10.3LOR, KRT16
46cervical intraepithelial neoplasia10.2IVL, KRT10, SPRR1B
47cervical squamous cell carcinoma10.2KRT10, IVL
48oculocutaneous albinism10.2
49acne10.2
50hepatitis10.2

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:

113800,607602

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 UMLS62/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:

32
Skin

Animal Models for Epidermolytic Hyperkeratosis or affiliated genes

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MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0KRT5, KRT16, KRT10, KRT2, FLG
2MP:00053787.9TGM1, FLG, JAK2, LOR, KRT10, KRT1
3MP:00107717.5KRT5, TGM1, FLG, JAK2, LOR, KRT2

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
Incidental epidermolytic hyperkeratosis and focal acantholytic dyskeratosis in common acquired melanocytic nevi and atypical melanocytic lesions. (14988681)
2004
16
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (12234709)
2002
17
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. (11558869)
2001
18
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (10688370)
2000
19
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
20
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. (10053007)
1999
21
A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (10201536)
1999
22
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. (10597140)
1999
23
Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. (10469329)
1999
24
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. (9742571)
1998
25
Epidermolytic hyperkeratosis in the lower female genital tract: an uncommon simulant of mucocutaneous papillomavirus infection--a report of two cases. (9100071)
1997
26
Oral erosive lichen planus with epidermolytic hyperkeratosis during interferon alfa-2b therapy for chronic hepatitis C virus infection. (9204077)
1997
27
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. (8751983)
1996
28
Epidermolytic hyperkeratosis of the nails in keratosis palmoplantaris nummularis. (8615066)
1995
29
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. (7523529)
1994
30
Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. (7513736)
1994
31
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. (7507151)
1994
32
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. (7507150)
1994
33
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (7512983)
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:

64 (show all 26)
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
13KRT1p.Val155GlyVAR_003853rs57959072
14KRT1p.Leu161ProVAR_003854rs57695159
15KRT1p.Ser186ProVAR_003855rs60022878
16KRT1p.Asn188SerVAR_003856rs58928370
17KRT1p.Ser193ProVAR_003857rs60937700
18KRT1p.Glu490GlnVAR_003861rs60279707
19KRT1p.Val155AspVAR_017820
20KRT1p.Asn188LysVAR_017821rs59429455
21KRT1p.Asn188ThrVAR_017822
22KRT1p.Leu214ProVAR_017823rs61549035
23KRT1p.Asp340ValVAR_017824rs58062863
24KRT1p.Ile479ThrVAR_017826rs57837128
25KRT1p.Tyr482CysVAR_017827rs58420087
26KRT1p.Leu486ProVAR_017828rs56914602

Clinvar genetic disease variations for Epidermolytic Hyperkeratosis:

6 (show all 25)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Epidermolytic Hyperkeratosis

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/GeneDecks:

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/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1tazarotene44 1111.2KRT1, KRT10, KRT2
2isotretinoin44 1111.1KRT16, KRT1, KRT10
3arsenate449.9FLG, IVL
4ceramides449.9KRT1, IVL
5cholesterol-sulfate44 1110.9TGM1, IVL
6monodansylcadaverine449.9TGM1, IVL
7valine449.9JAK2, KRT1, KRT5
8acitretin44 1110.8KRT5, IVL
9methylcellulose449.7KRT10, IVL
10phenylalanine449.7JAK2, KRT1, KRT5
11collodion449.7LOR, TGM1, IVL
12epsilon-(gamma-glutamyl)lysine449.7IVL, TGM1, LOR
13tcdd449.6IVL, KRT10
14leucine449.6JAK2, KRT1, KRT9, KRT5
15ceramide449.6JAK2, FLG, IVL
16bromodeoxyuridine449.5IVL, FLG, KRT10, KRT1
17urea44 24 1111.5KRT5, FLG, IVL
18nicotine44 28 50 1112.5KRT1, JAK2, FLG, IVL
19dithranol449.5IVL, FLG, KRT10, KRT16
2012-o-tetradecanoylphorbol 13-acetate449.5IVL, JAK2, KRT1, KRT5
21citrulline44 2410.4TCHH, FLG
22histidine449.4FLG, LOR, KRT10, KRT9, KRT5
23progesterone44 28 61 24 1113.4TGM1, KRT10, KRT1, KRT5
241,25 dihydroxy vitamin d3449.4IVL, TGM1, KRT10, KRT16
25sodium dodecylsulfate449.4IVL, TGM1, KRT1, KRT16
26hematoxylin449.3IVL, FLG, LOR, KRT10, KRT1
27estrogen449.2IVL, JAK2, KRT10, KRT1, KRT5
28paraffin449.2IVL, KRT10, KRT1, KRT16, KRT5
29gf 109203x44 6110.2IVL, TGM1, FLG, JAK2, KRT10
30calcitriol44 61 24 1112.1IVL, TGM1, FLG, KRT10, KRT16
31glutamine449.1IVL, LELP1, TGM1, KRT9
32vitamin d449.0KRT10, TGM1, IVL
33vitamin a44 24 1111.0LELP1, TGM1, LOR, KRT16, KRT5
34dexamethasone44 50 28 1111.9KRT10, JAK2, IVL, SPRR1B
35lipid448.8IVL, TGM1, FLG, JAK2, LOR, KRT1
36tyrosine448.8IVL, FLG, JAK2, KRT10, KRT1, KRT5
37calcipotriol44 61 28 1111.7KRT5, IVL, TGM1, FLG, KRT10, KRT16
38lysine448.5IVL, LELP1, JAK2, KRT2, KRT1, KRT86
39steroid448.4IVL, TGM1, FLG, JAK2, LOR, KRT10
40serine448.4IVL, FLG, JAK2, LOR, KRT10, KRT1
41retinoid448.3IVL, TGM1, FLG, KRT2, KRT10, KRT1
42arginine448.2TGM1, FLG, TCHH, KRT10, KRT1, KRT9
43proline447.6SPRR1B, IVL, LELP1, JAK2, LOR, KRT10
44retinoic acid44 248.2SPRR1B, IVL, TGM1, FLG, JAK2, LOR
45calcium44 50 24 119.4SPRR1B, IVL, LELP1, TGM1, FLG, JAK2

GO Terms for genes affiliated with Epidermolytic Hyperkeratosis

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Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.0KRT9, KRT86, KRT1, KRT10, KRT2, KRT81
2intermediate filamentGO:0058828.7KRT9, KRT16, KRT5, KRT2, FLG, KRT10
3cornified envelopeGO:0015338.6LOR, TGM1, SPRR1B, IVL
4keratin filamentGO:0450958.5KRT5, KRTAP5-1, KRT86, KRT1, KRT10, KRT2
5extracellular vesicular exosomeGO:0700627.6TGM1, KRT2, KRT10, KRT1, KRT9, KRT16

Biological processes related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide cross-linkingGO:0181498.7LOR, TGM1, IVL, SPRR1B
2epidermis developmentGO:0085448.3SPRR1B, KRT2, KRT9, KRT16, KRT5
3keratinocyte differentiationGO:0302168.0SPRR1B, IVL, TGM1, FLG, LOR, KRT10
4keratinizationGO:0314247.6KRT2, LOR, TCHH, TGM1, IVL, SPRR1B

Molecular functions related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.1LOR, IVL, SPRR1B
2structural constituent of cytoskeletonGO:0052008.7LOR, KRT2, KRT9, KRT16, KRT5
3structural molecule activityGO:0051987.8KRT86, KRT1, KRT81, LOR, FLG, IVL

Products for genes affiliated with Epidermolytic Hyperkeratosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Epidermolytic Hyperkeratosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet