EI
MCID: EPD002
MIFTS: 71

Epidermolytic Hyperkeratosis (EI) malady

Skin diseases category

Summaries for Epidermolytic Hyperkeratosis

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21Genetics Home Reference, 42NIH Rare Diseases, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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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: Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to congenital ichthyosiform erythroderma and ichthyosis, cyclic, with epidermolytic hyperkeratosis, and has symptoms including follicular/conjunctival hamartomas, chronic skin infection/ulcerations/ulcers/cancrum and palmoplantar hyperkeratosis/keratoderma. 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 integument.

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

Description from OMIM:46 113800,607602

Aliases & Classifications for Epidermolytic Hyperkeratosis

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 22GTR, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

epidermolytic hyperkeratosis 8 9 42 21 46 10 48
bullous congenital ichthyosiform erythroderma 8 42 21 44 48 60
bullous ichthyosiform erythroderma 8 42 22 21
bcie 42 21 48
bullous erythroderma ichthyosiformis congenita of brocq 42 21
epidermolytic ichthyosis 21 48
bie 42 21
ehk 21 48
bullous congenital ichthyosiform erythroderma of brock 48
epidermolytic palmoplantar hyperkeratosis 8
bullous erythroderma ichthyosiforme 21
hyperkeratosis, epidermolytic 21
congenital ichthyosis 60
bullous ichthyosis 48
ei 48


External Ids:

Disease Ontology8 DOID:4603
NCIt39 C62569
SNOMED-CT via Orphanet57 254166009
ICD10 via Orphanet26 Q80.3
UMLS via Orphanet61 C0079153
ICD1025 Q80.3

Related Diseases for Epidermolytic Hyperkeratosis

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Sources:
17GeneCards, 18GeneDecks
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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 174)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.7LOR, TGM1
2ichthyosis, cyclic, with epidermolytic hyperkeratosis30.5KRT1, KRT10
3epidermolysis bullosa30.5FLG, KRT5
4ichthyosis bullosa of siemens30.4KRT2
5palmoplantar keratoderma, epidermolytic30.4KRT9, KRT1, KRT16
6netherton syndrome30.3TGM1
7keratosis30.3KRT6A, KRT10, KRT1, KRT16, KRT86, IVL
8epidermolysis bullosa simplex30.3KRT9, KRT10, KRT2, KRT81, KRT1, KRT5
9psoriasis30.3LOR, FLG, IVL, LELP1, KRT16, KRT5
10x-linked ichthyosis30.3FLG, TGM1
11basal cell carcinoma30.1IVL, TCHH, KRT16, KRT10
12lichen planus30.1FLG, IVL, KRT16, KRT1, KRT10
13squamous cell carcinoma30.1IVL, LELP1, TCHH, KRT16, KRT5, KRT1
14skin disease30.1FLG, LOR, IVL, LELP1, TGM1, SPRR1B
15harlequin type ichthyosis30.1FLG, TGM1
16ichthyosis vulgaris30.0TGM1, IVL, FLG, LOR
17alopecia29.8KRT86
18autosomal recessive congenital ichthyosis10.7
19retinitis pigmentosa10.5
20ophthalmoplegia10.5
21internuclear ophthalmoplegia10.5
22retinitis10.4
23retinitis pigmentosa 2510.4
24peeling skin syndrome10.4
25fibrous histiocytoma10.3
26cutaneous fibrous histiocytoma10.3
27noonan syndrome10.3
28ocular albinism10.3
29histiocytoma10.3
30sarcoma10.3
31seborrheic keratosis10.3
32skin melanoma10.3
33albinism10.3
34krt1-related epidermolytic hyperkeratosis10.3
35krt10-related epidermolytic hyperkeratosis10.3
36cataract and congenital ichthyosis10.3
37ichthyosis, autosomal recessive 4b10.3
38ichthyosis, congenital, autosomal recessive 110.3
39ichthyosis histrix, curth-macklin type10.3
40ichthyosis, congenital, autosomal recessive 210.3
41eys-related retinitis pigmentosa10.2
42ichthyosis, spastic quadriplegia, and mental retardation10.2
43oculocutaneous albinism10.2
44myopathy10.2
45retinitis pigmentosa 610.2
46sjogren-larsson syndrome10.2
47ichthyosis, congenital, autosomal recessive 4a10.2
48ichthyosis, congenital, autosomal recessive 610.2
49ichthyosis, congenital, autosomal recessive 1010.2
50ichthyosis, congenital, autosomal recessive 810.2

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



Diseases related to epidermolytic hyperkeratosis

Clinical Features for Epidermolytic Hyperkeratosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

113800,607602

Clinical synopsis from OMIM:

113800

Symptoms:

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

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Epidermolytic Hyperkeratosis

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Sources:
22GTR
See all sources

Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma22

Anatomical Context for Epidermolytic Hyperkeratosis

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Sources:
32MalaCards
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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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Sources:
36MGI
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MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8KRT16, KRT5, KRT2, KRT10, KRT6A, FLG
2MP:00107717.8TGM1, LOR, FLG, KRT16, KRT5, KRT1

Publications for Epidermolytic Hyperkeratosis

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Sources:
50PubMed
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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. (23623204)
2013
2
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. (20632830)
2010
3
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. (19443303)
2009
4
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. (20102018)
2009
5
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
6
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
7
Nevus comedonicus with epidermolytic hyperkeratosis. (17337416)
2007
8
Epidermolytic hyperkeratosis with a rare digital contracture. (17684790)
2007
9
Epidermolytic hyperkeratosis within infundibular cysts. (17381810)
2007
10
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. (17683385)
2007
11
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
12
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. (16505000)
2006
13
Epidermolytic hyperkeratosis with rickets. (16707822)
2006
14
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. (16487115)
2006
15
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
16
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. (14708600)
2003
17
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. (12648226)
2003
18
Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. (11676820)
2001
19
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. (10053007)
1999
20
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
21
Epidermolytic hyperkeratosis in the lower female genital tract: an uncommon simulant of mucocutaneous papillomavirus infection--a report of two cases. (9100071)
1997
22
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. (8751983)
1996
23
Epidermolytic hyperkeratosis in nevi. A possible marker for atypia. (8739990)
1996
24
Characterization of an immortalized cell line from a patient with epidermolytic hyperkeratosis. (8648165)
1996
25
Incidental epidermolytic hyperkeratosis. (7695008)
1995
26
Altered distribution of keratinization markers in epidermolytic hyperkeratosis. (8554380)
1995
27
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. (7523529)
1994
28
Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. (7513736)
1994
29
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. (7507151)
1994
30
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (7512983)
1994
31
Incidental epidermolytic hyperkeratosis in progressive systemic sclerosis. (8478498)
1993
32
Acral epidermolytic hyperkeratosis. (8471521)
1993
33
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. (7509230)
1993
34
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. (7678607)
1993
35
Epidermolytic hyperkeratosis. (7692917)
1993
36
A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. (1381288)
1992
37
Picture of the month. Epidermolytic hyperkeratosis. (3052035)
1988
38
Focal acantholytic dyskeratosis and epidermolytic hyperkeratosis of the oral mucosa adjacent to squamous cell carcinoma. (3858775)
1985
39
Generalized epidermolytic hyperkeratosis in the child of a parent with nevus comedonicus. (6696475)
1984
40
Epidermolytic hyperkeratosis as an incidental finding in normal oral mucosa. Report of two cases. (6371068)
1984
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
Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant. (6187867)
1983
43
Nevus comedonicus with epidermolytic hyperkeratosis. A report of four cases. (7008704)
1981
44
Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma. (6449393)
1980
45
Epidermolytic hyperkeratosis and focal acantholytic dyskeratosis: a unified concept. (364381)
1978
46
A radiologic sign of epidermolytic hyperkeratosis. (862428)
1977
47
Proceedings: Epidermolytic hyperkeratosis. (4764717)
1973
48
Epidermolytic hyperkeratosis. Effect of tretinoin therapy on the clinical course and the basic defects in the stratum corneum. (4697685)
1973
49
Histopathologic concept of epidermolytic hyperkeratosis. (5456015)
1970
50
Localized epidermolytic hyperkeratosis. A form of keratoderma of the palms and soles. (5414885)
1970

Genetic Variations for Epidermolytic Hyperkeratosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Epidermolytic Hyperkeratosis:

62 (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

Expression for genes affiliated with Epidermolytic Hyperkeratosis

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1BioGPS, 15Gene 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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12EMD Millipore
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Pathways related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2KRT6A, KRT2, KRT1, KRT5, KRT16

Compounds for genes affiliated with Epidermolytic Hyperkeratosis

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1tazarotene44 1111.2KRT1, KRT2, KRT10
2isotretinoin44 1111.0KRT10, KRT1, KRT16
3cholesterol-sulfate44 1110.6IVL, TGM1
4monodansylcadaverine449.5TGM1, IVL
5histidine449.5LOR, FLG, KRT5, KRT10, KRT9
6collodion449.5TGM1, IVL, LOR
7epsilon-(gamma-glutamyl)lysine449.5LOR, IVL, TGM1
8arsenate449.5IVL, FLG
9acitretin44 1110.4KRT5, IVL
10vitamin a44 11 2411.2LOR, LELP1, KRT16, KRT5, TGM1
11dithranol449.2FLG, IVL, KRT16, KRT10
12ceramides449.2KRT1, IVL
13bromodeoxyuridine449.2FLG, IVL, KRT1, KRT10
14sodium dodecylsulfate449.1TGM1, KRT1, KRT16, IVL
151,25 dihydroxy vitamin d3449.1IVL, KRT16, KRT10, TGM1
16urea44 11 2411.1FLG, IVL, KRT5
17nicotine44 49 28 1112.1KRT1, IVL, FLG
18gf 109203x44 5910.1FLG, IVL, KRT10, TGM1
19hematoxylin449.1LOR, FLG, IVL, KRT1, KRT10
20paraffin448.9KRT10, KRT1, KRT5, KRT16, IVL
21calcitriol44 59 11 2411.8FLG, IVL, KRT16, KRT10, TGM1
22arginine448.7FLG, TCHH, KRT5, KRT1, KRT10, KRT9
23calcipotriol44 59 28 1111.6TGM1, FLG, IVL, KRT16, KRT5, KRT10
24glutamine448.6IVL, LELP1, KRT9, TGM1
25lysine448.6IVL, LELP1, KRT86, KRT5, KRT1, KRT2
26steroid448.4LOR, FLG, IVL, KRT16, KRT1, KRT10
27retinoid448.2FLG, IVL, KRT16, KRT5, KRT1, KRT2
28serine448.2LOR, FLG, IVL, KRT16, KRT5, KRT1
29proline447.5LOR, IVL, LELP1, KRT16, KRT5, KRT1
30retinoic acid44 248.5LOR, FLG, IVL, KRT16, KRT5, KRT1
31calcium44 49 11 249.4LOR, FLG, IVL, LELP1, TCHH, KRT5

GO Terms for genes affiliated with Epidermolytic Hyperkeratosis

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Sources:
16Gene Ontology
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Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015338.6TGM1, SPRR1B, IVL, LOR
2intermediate filamentGO:0058828.1FLG, KRT86, KRT16, KRT5, KRT2, KRT10
3keratin filamentGO:0450957.9KRTAP11-1, KRT86, KRT5, KRT1, KRT81, KRT2

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085448.9SPRR1B, KRT9, KRT2, KRT5, KRT16
2peptide cross-linkingGO:0181498.3LOR, IVL, SPRR1B, TGM1
3keratinocyte differentiationGO:0302168.0LOR, FLG, IVL, KRT10, SPRR1B, TGM1
4keratinizationGO:0314247.8TGM1, SPRR1B, KRT2, TCHH, IVL, LOR

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

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306748.9SPRR1B, IVL, LOR
2structural constituent of cytoskeletonGO:0052008.6LOR, KRT16, KRT5, KRT2, KRT6A, KRT9
3structural molecule activityGO:0051987.3SPRR1B, LOR, FLG, IVL, KRT86, KRT1

Products for genes affiliated with Epidermolytic Hyperkeratosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermolytic Hyperkeratosis

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet