MCID: EPD002
MIFTS: 64

Epidermolytic Hyperkeratosis malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Epidermolytic Hyperkeratosis

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 47Novoseek, 24GTR, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 49 10 11 45 23 12 51 67
Bullous Congenital Ichthyosiform Erythroderma 10 45 23 47 51 67
Bullous Ichthyosiform Erythroderma 10 45 23 67
Bcie 45 23 51 67
Ehk 45 23 51 67
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 45 23 67
Hyperkeratosis, Epidermolytic 23 65 36
Bie 45 23 67
Bullous Erythroderma Ichthyosiforme 23 24
 
Epidermolytic Ichthyosis 23 51
Bullous Congenital Ichthyosiform Erythroderma of Brock 51
Congenital Bullous Ichthyosiform Erythroderma 45
Bullous Ichthyosiform Erythroderma Congenita 45
Epidermolytic Palmoplantar Hyperkeratosis 10
Epidermolytic Hyperkeratosis Late-Onset 67
Bullous Ichthyosis 51
Ei 51


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
epidermolytic hyperkeratosis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal


External Ids:

OMIM49 113800
Disease Ontology10 DOID:4603
NCIt42 C62569
Orphanet51 312
ICD10 via Orphanet28 Q80.3
UMLS via Orphanet66 C0079153
ICD1027 Q80.3

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 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, Type I), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. The drugs urea and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and digestive/alimentary.

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).

NIH Rare Diseases:45 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

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.

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 184)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, cyclic, with epidermolytic hyperkeratosis31.0KRT1, KRT10, KRT16, KRT9
2ichthyosis bullosa of siemens31.0KRT1, KRT10, KRT2
3ichthyosis histrix, curth-macklin type30.8KRT1, KRT16, KRT9
4palmoplantar keratoderma, epidermolytic30.8KRT1, KRT16, KRT17, KRT9
5ichthyosis, autosomal recessive 4b30.5ABCA12, FLG, TGM1
6retinitis pigmentosa10.9
7ichthyosis10.7
8retinitis pigmentosa 2510.7
9retinitis pigmentosa autosomal recessive10.7
10superficial epidermolytic ichthyosis10.7
11ichthyosis, congenital, autosomal recessive 210.6
12ophthalmoplegia10.6
13internuclear ophthalmoplegia10.6
14ichthyosis, congenital, autosomal recessive 4a10.5
15ichthyosis, congenital, autosomal recessive 610.5
16ichthyosis, congenital, autosomal recessive 1010.5
17ichthyosis, congenital, autosomal recessive 810.5
18ichthyosis, congenital, autosomal recessive 1110.5
19ichthyosis, congenital, autosomal recessive 110.5
20ichthyosis, congenital, autosomal recessive 910.5
21ichthyosis, congenital, autosomal recessive 310.5
22ichthyosis, congenital, autosomal recessive 510.5
23cone-rod dystrophy10.5
24chylomicron retention disease10.5
25refsum disease10.5
26leber congenital amaurosis 410.5
27cone-rod dystrophy 610.5
28rhyns syndrome10.5
29retinitis10.5
30congenital ichthyosiform erythroderma10.4
31epidermolysis bullosa10.4
32krt1-related epidermolytic hyperkeratosis10.4
33krt10-related epidermolytic hyperkeratosis10.4
34chanarin-dorfman syndrome10.4
35ocular albinism10.4
36fibrous histiocytoma10.4
37histiocytoma10.4
38sarcoma10.4
39albinism10.4
40undifferentiated pleomorphic sarcoma10.4
41epidermolysis bullosa simplex10.4
42basal cell carcinoma10.4
43keratosis10.4
44cardiomyopathy, dilated, with woolly hair and keratoderma10.3
45ectodermal dysplasia-syndactyly syndrome 210.3
46psoriasis10.3
47autosomal recessive congenital ichthyosis10.3
48pustular psoriasis10.3
49oculocutaneous albinism10.3
50frontotemporal lobar degeneration with ubiquitin-positive inclusions10.3KRT1, KRT10

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:

 51 (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 12)
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
12 scaling skin HP:0040189

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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Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma24

Anatomical Context for Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

33
Skin

Animal Models for Epidermolytic Hyperkeratosis or affiliated genes

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MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7KRT1, KRT17, KRT2, KRT9
2MP:00053817.9AQP5, ATP2A2, KRT16, KRT17, KRT5, KRT6A
3MP:00053827.5ABCA12, FLG, KRT10, KRT16, KRT17, KRT2
4MP:00053866.3ABCA12, AQP5, ATP2A2, KRT16, KRT5, KRT6A
5MP:00053766.3ABCA12, AQP5, ATP2A2, FLG, KRT1, KRT16
6MP:00053785.9ABCA12, AQP5, ATP2A2, FLG, KRT1, KRT10
7MP:00107685.8ABCA12, AQP5, ATP2A2, FLG, KRT1, KRT10
8MP:00107715.2ABCA12, ATP2A2, FLG, KRT1, KRT10, KRT16

Publications for Epidermolytic Hyperkeratosis

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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 138)
idTitleAuthorsYear
1
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. (26373619)
2015
2
Systematized linear epidermolytic hyperkeratosis. (24456951)
2014
3
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. (21463361)
2012
4
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). (22250628)
2012
5
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
6
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
7
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. (22068776)
2011
8
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. (21496707)
2011
9
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (19474805)
2009
10
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
11
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
12
Epidermolytic hyperkeratosis. (16962021)
2006
13
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
14
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. (16677804)
2006
15
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. (15663507)
2005
16
Incidental epidermolytic hyperkeratosis and focal acantholytic dyskeratosis in common acquired melanocytic nevi and atypical melanocytic lesions. (14988681)
2004
17
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (12234709)
2002
18
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. (11558869)
2001
19
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (10688370)
2000
20
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
21
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. (10053007)
1999
22
A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (10201536)
1999
23
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. (10597140)
1999
24
Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. (10469329)
1999
25
Epidermolytic hyperkeratosis. (10632770)
1999
26
Epidermolytic hyperkeratosis in the lower female genital tract: an uncommon simulant of mucocutaneous papillomavirus infection--a report of two cases. (9100071)
1997
27
Oral erosive lichen planus with epidermolytic hyperkeratosis during interferon alfa-2b therapy for chronic hepatitis C virus infection. (9204077)
1997
28
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. (8751983)
1996
29
Epidermolytic hyperkeratosis of the nails in keratosis palmoplantaris nummularis. (8615066)
1995
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
Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. (7525738)
1994
35
Incidental epidermolytic hyperkeratosis in progressive systemic sclerosis. (8478498)
1993
36
Acral epidermolytic hyperkeratosis. (8471521)
1993
37
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. (7509230)
1993
38
Epidermolytic hyperkeratosis treated with etretinate. (2070649)
1991
39
Congenital epidermolytic hyperkeratosis associated with multiple malignancies. (2700664)
1989
40
Leukoplakia of the prepuce with epidermolytic hyperkeratosis: a case report. (6198860)
1983
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
Nevoid follicular epidermolytic hyperkeratosis. (123434)
1975
45
Familial congenital epidermolytic hyperkeratosis confined to the palms and soles. (4277481)
1974
46
Combined epidermolytic hyperkeratosis and focal acantholytic dyskeratosis. (4814939)
1974
47
Proceedings: Epidermolytic hyperkeratosis. (4764717)
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:

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 pathways (with members indented)ScoreTop Affiliating Genes
18.7KRT10, KRT17, KRT5, KRT6A
2
Show member pathways
8.1KRT1, KRT16, KRT17, 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
1cornified envelopeGO:000153310.1LOR, TGM1
2keratin filamentGO:00450959.1KRT1, KRT10, KRT2, KRT5, KRT6A
3intermediate filamentGO:00058827.9FLG, KRT1, KRT10, KRT16, KRT17, KRT2
4membraneGO:00160207.2AQP5, ATP2A2, KRT1, KRT10, KRT2, KRT5
5extracellular 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:005154610.4KRT16, KRT2
2intermediate filament organizationGO:004510910.1KRT17, KRT9
3intermediate filament cytoskeleton organizationGO:00451049.6KRT16, KRT6A
4establishment of skin barrierGO:00614369.4ABCA12, FLG, KRT1, KRT16
5morphogenesis of an epitheliumGO:00020098.9KRT16, KRT17, KRT6A
6keratinocyte differentiationGO:00302168.1ABCA12, FLG, KRT10, KRT16, LOR, TGM1
7keratinizationGO:00314248.1ABCA12, KRT16, KRT17, KRT2, LOR, TGM1
8epidermis developmentGO:00085448.0ATP2A2, KRT16, KRT17, KRT2, KRT5, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052007.7KRT16, KRT17, KRT2, KRT5, KRT6A, KRT9
2structural molecule activityGO:00051986.6FLG, KRT1, KRT10, KRT16, KRT17, KRT2

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