EI
MCID: EPD002
MIFTS: 70

Epidermolytic Hyperkeratosis (EI) malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Epidermolytic Hyperkeratosis

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 4CDC, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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: Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to ichthyosis, cyclic, with epidermolytic hyperkeratosis and congenital ichthyosiform erythroderma, and has symptoms including follicular/conjunctival hamartomas, palmoplantar hyperkeratosis/keratoderma and weight loss/loss of appetite/break in weight curve/general health alteration. 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 limbs/digits/tail and craniofacial.

NIH Rare Diseases:44 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:4 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:66 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

Description from OMIM:48 113800,607602

Aliases & Classifications for Epidermolytic Hyperkeratosis

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 23GTR, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
epidermolytic hyperkeratosis:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

epidermolytic hyperkeratosis 9 10 44 22 48 11 50
bullous congenital ichthyosiform erythroderma 9 44 22 46 50 63
bullous ichthyosiform erythroderma 9 44 23 22
bcie 44 22 50
ehk 44 22 50
bullous erythroderma ichthyosiformis congenita of brocq 44 22
epidermolytic ichthyosis 22 50
bie 44 22
bullous congenital ichthyosiform erythroderma of brock 50
congenital bullous ichthyosiform erythroderma 44
bullous ichthyosiform erythroderma congenita 44
epidermolytic palmoplantar hyperkeratosis 9
bullous erythroderma ichthyosiforme 22
hyperkeratosis, epidermolytic 22
congenital ichthyosis 63
bullous ichthyosis 50
ei 50


External Ids:

Disease Ontology9 DOID:4603
NCIt41 C62569
SNOMED-CT via Orphanet60 254166009
ICD10 via Orphanet27 Q80.3
UMLS via Orphanet64 C0079153
ICD1026 Q80.3

Related Diseases for Epidermolytic Hyperkeratosis

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Sources:
18GeneCards, 19GeneDecks
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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 126)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, cyclic, with epidermolytic hyperkeratosis30.8KRT10, KRT1
2congenital ichthyosiform erythroderma30.7TGM1, LOR
3ichthyosis bullosa of siemens30.7KRT2
4epidermolysis bullosa30.6FLG, KRT5
5keratoderma30.5KRT1, KRT9, KRT16, TGM1, LOR
6palmoplantar keratoderma, epidermolytic30.5KRT9, KRT16, KRT1
7keratosis30.3IVL, KRT16, KRT86, KRT1, KRT10, LOR
8leukoplakia30.3FLG, IVL, KRT1
9basal cell carcinoma30.2TCHH, IVL, KRT10, KRT16
10lichen planus30.2KRT1, KRT10, FLG, IVL, KRT16
11psoriasis30.1KRT16, KRT5, KRT1, KRT10, FLG, TGM1
12epidermolysis bullosa simplex30.0IVL, KRT2, KRT81, FLG, KRT1, KRT86
13adenocarcinoma29.8KRT5, KRT1, KRT10, IVL
14skin disease29.7KRT5, KRT16, KRT9, KRT1, KRT10, TCHH
15retinitis pigmentosa10.5
16ophthalmoplegia10.5
17retinitis10.5
18internuclear ophthalmoplegia10.5
19epidermal nevus10.5
20retinitis pigmentosa 2510.4
21fibrous histiocytoma10.4
22noonan syndrome10.4
23ocular albinism10.4
24histiocytoma10.4
25sarcoma10.4
26seborrheic keratosis10.4
27albinism10.4
28autosomal dominant trichoodontoonychodysplasia-syndactyly10.4
29krt1-related epidermolytic hyperkeratosis10.3
30krt10-related epidermolytic hyperkeratosis10.3
31netherton syndrome10.3
32generalized pustular psoriasis10.3
33ichthyosis histrix, curth-macklin type10.3
34ichthyosis, congenital, autosomal recessive 210.3
35oculocutaneous albinism10.2
36hepatitis c10.2
37pityriasis rubra pilaris10.2
38rickets10.2
39superficial basal cell carcinoma10.2
40acne10.2
41hepatitis10.2
42melanoma10.2
43hyperkeratosis palmoplantar localized epidermolytic10.2
44ichthyosis hystrix gravior10.2
45inflammatory linear verrucous epidermal nevus10.2
46epidermal nevus, somatic10.2
47hepatitis c virus10.2
48oral erosive lichen10.2
49hypercalcemia10.2
50angelman syndrome10.2

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



Diseases related to epidermolytic hyperkeratosis

Symptoms for Epidermolytic Hyperkeratosis

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

113800

Clinical features from OMIM:

113800,607602

Symptoms:

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

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Epidermolytic Hyperkeratosis

Drug clinical trials:

Search ClinicalTrials for Epidermolytic Hyperkeratosis

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Search CenterWatch for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Epidermolytic Hyperkeratosis

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23GTR
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Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma23

Anatomical Context for Epidermolytic Hyperkeratosis

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34MalaCards
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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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38MGI
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MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

38
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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Sources:
53PubMed
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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 138)
idTitleAuthorsYear
1
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. (21463361)
2012
2
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). (22250628)
2012
3
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
4
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
5
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. (22068776)
2011
6
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. (21496707)
2011
7
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (19474805)
2009
8
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
9
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
10
Epidermolytic hyperkeratosis. (16962021)
2006
11
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
12
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. (16677804)
2006
13
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. (15663507)
2005
14
Incidental epidermolytic hyperkeratosis and focal acantholytic dyskeratosis in common acquired melanocytic nevi and atypical melanocytic lesions. (14988681)
2004
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Epidermolytic Hyperkeratosis:

65 (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:

1 (show all 22)
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
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 61Thomson Reuters
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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

About this section
Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB, 62Tocris Bioscience
See all sources

Compounds related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1tazarotene46 1211.1KRT1, KRT10, KRT2
2isotretinoin46 1211.0KRT16, KRT1, KRT10
3ceramides469.9KRT1, IVL
4arsenate469.9FLG, IVL
5cholesterol-sulfate46 1210.8IVL, TGM1
6monodansylcadaverine469.8TGM1, IVL
7acitretin46 1210.8KRT5, IVL
8methylcellulose469.7KRT10, IVL
9collodion469.7IVL, TGM1, LOR
10epsilon-(gamma-glutamyl)lysine469.7IVL, TGM1, LOR
11tcdd469.6KRT10, IVL
12nicotine46 30 52 1212.6IVL, FLG, KRT1
13urea46 25 1211.5IVL, FLG, KRT5
14dithranol469.5IVL, FLG, KRT10, KRT16
15bromodeoxyuridine469.5IVL, FLG, KRT10, KRT1
16progesterone46 30 62 25 1213.4TGM1, KRT10, KRT1, KRT5
17citrulline46 2510.4TCHH, FLG
18histidine469.4FLG, LOR, KRT10, KRT9, KRT5
1912-o-tetradecanoylphorbol 13-acetate469.4IVL, KRT1, KRT5
201,25 dihydroxy vitamin d3469.3KRT16, KRT10, TGM1, IVL
21sodium dodecylsulfate469.3IVL, TGM1, KRT1, KRT16
22gf 109203x46 6210.3IVL, TGM1, FLG, KRT10
23hematoxylin469.3KRT1, KRT10, LOR, FLG, IVL
24paraffin469.1IVL, KRT10, KRT1, KRT16, KRT5
25calcitriol46 62 25 1212.0IVL, TGM1, FLG, KRT10, KRT16
26vitamin d469.0KRT10, TGM1, IVL
27glutamine469.0IVL, LELP1, TGM1, KRT9
28vitamin a46 25 1211.0LELP1, TGM1, LOR, KRT16, KRT5
29lipid468.8IVL, TGM1, FLG, LOR, KRT1
30calcipotriol46 62 30 1211.7KRT5, IVL, TGM1, FLG, KRT10, KRT16
31lysine468.7IVL, LELP1, KRT2, KRT1, KRT86, KRT5
32steroid468.6IVL, TGM1, FLG, LOR, KRT10, KRT1
33serine468.5IVL, FLG, LOR, KRT10, KRT1, KRT16
34retinoid468.2IVL, TGM1, FLG, KRT2, KRT10, KRT1
35arginine468.2TGM1, FLG, TCHH, KRT10, KRT1, KRT9
36proline467.8SPRR1B, IVL, LELP1, LOR, KRT10, KRT1
37retinoic acid46 258.3SPRR1B, IVL, TGM1, FLG, LOR, KRT2
38calcium46 52 25 129.5SPRR1B, IVL, LELP1, TGM1, FLG, TCHH

GO Terms for genes affiliated with Epidermolytic Hyperkeratosis

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Sources:
17Gene Ontology
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Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.9KRT9, KRT86, KRT1, KRT10, KRT2, KRT81
2intermediate filamentGO:0058828.7KRT9, KRT16, KRT5, KRT2, FLG, KRT10
3cornified envelopeGO:0015338.6LOR, TGM1, SPRR1B, IVL
4keratin filamentGO:0450958.4KRT5, 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
  • Antibodies

Sources for Epidermolytic Hyperkeratosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet