MCID: EPD002
MIFTS: 53

Epidermolytic Hyperkeratosis

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolytic Hyperkeratosis

MalaCards integrated aliases for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 54 12 50 25 56 71 13 14
Bullous Congenital Ichthyosiform Erythroderma 12 50 25 56 71 52
Bullous Ichthyosiform Erythroderma 12 50 25 71 29
Bcie 50 25 56 71
Ehk 50 25 56 71
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 50 25 71
Hyperkeratosis, Epidermolytic 25 42 69
Epidermolytic Ichthyosis 50 25 56
Congenital Bullous Ichthyosiform Erythroderma 50 29
Bie 25 71
Bullous Congenital Ichthyosiform Erythroderma of Brock 56
Bullous Ichthyosiform Erythroderma Congenita 50
Epidermolytic Palmoplantar Hyperkeratosis 12
Epidermolytic Hyperkeratosis Late-Onset 71
Bullous Erythroderma Ichthyosiforme 25
Bullous Ichthyosis 56
Ei 56

Characteristics:

Orphanet epidemiological data:

56
epidermolytic ichthyosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal;

OMIM:

54
Miscellaneous:
homozygous mutations in krt10 (e.g., ) have been reported in some ehk families

Inheritance:
autosomal dominant
autosomal recessive (in some families)


HPO:

32
epidermolytic hyperkeratosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 113800
Disease Ontology 12 DOID:4603
ICD10 33 Q80.3
MeSH 42 D017488
NCIt 47 C62569
Orphanet 56 ORPHA312
UMLS via Orphanet 70 C0079153
ICD10 via Orphanet 34 Q80.3
UMLS 69 C0079153

Summaries for Epidermolytic Hyperkeratosis

OMIM : 54
Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by Muller et al., 2006). Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see 146600) when localized. They are presumably distinct entities. A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), is caused by mutation in the keratin gene KRT9 (607606), and a mild form of EPPK can also be caused by mutation in KRT1. (113800)

MalaCards based summary : Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to palmoplantar keratoderma, epidermolytic and squamous cell carcinoma, and has symptoms including palmoplantar hyperkeratosis, erythroderma and scaling skin. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Etomidate and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include skin.

NIH Rare Diseases : 50 epidermolytic ichthyosis (ei) is a rare, genetic skin disorder. it becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. hyperkeratosis (thickening of the skin) develops within months and worsens over time. blister formation decreases, but may still occur after skin trauma or during summer months. skin can be itchy and smelly, and prone to infection. other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. ei is caused by changes (mutations) in the krt1 or krt10 genes. about half of cases are due to new mutations and are not inherited from a parent (sporadic). other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes. last updated: 2/24/2016

UniProtKB/Swiss-Prot : 71 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.

CDC : 3 EIS Officer Tushar Singh contributes to CDC's work in reducing youth exposure to e-cigarettes in a January 2016 CDC Vital Signs article.

Genetics Home Reference : 25 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).

Wikipedia : 72 Epidermolytic ichthyosis (EI), (also known as \"epidermolytic hyperkeratosis (EHK)\", \"bullous... more...

Related Diseases for Epidermolytic Hyperkeratosis

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 108)
id Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, epidermolytic 31.5 KRT1 KRT16 KRT9 LOR
2 squamous cell carcinoma 30.1 KRT1 KRT10 KRT9
3 rosacea 30.1 FLG LOR
4 ichthyosis, cyclic, with epidermolytic hyperkeratosis 28.1 FLG KRT1 KRT10 KRT16 KRT17 KRT2
5 krt1-related epidermolytic hyperkeratosis 12.0
6 krt10-related epidermolytic hyperkeratosis 12.0
7 ichthyosis, congenital, autosomal recessive 2 11.9
8 eys-related retinitis pigmentosa 11.8
9 autosomal recessive congenital ichthyosis 11.4
10 ichthyosis, congenital, autosomal recessive 1 11.3
11 ichthyosis, congenital, autosomal recessive 9 11.3
12 ichthyosis, congenital, autosomal recessive 3 11.3
13 ichthyosis, congenital, autosomal recessive 4a 11.3
14 ichthyosis, congenital, autosomal recessive 5 11.3
15 ichthyosis, congenital, autosomal recessive 6 11.3
16 ichthyosis, congenital, autosomal recessive 12 11.3
17 ichthyosis, congenital, autosomal recessive 10 11.3
18 ichthyosis, congenital, autosomal recessive 8 11.3
19 ichthyosis, congenital, autosomal recessive 11 11.3
20 ichthyosis bullosa of siemens 11.3
21 estrogen resistance 10.9
22 epidermal nevus, somatic 10.9
23 ichthyosis hystrix gravior 10.9
24 palmoplantar keratoderma, bothnian type 10.9
25 wilson disease 10.8
26 menkes disease 10.8
27 andersen syndrome 10.6 KRT1 KRT10
28 ichthyosis histrix, curth-macklin type 10.6 KRT1 KRT10
29 idiopathic neonatal atrial flutter 10.6 KRT1 KRT10
30 penis squamous cell carcinoma 10.5 KRT10 KRT5
31 pneumonia 10.5 KRT10 KRT5
32 celiac trunk compression syndrome 10.5 KRT2 KRT5
33 chondrodysplasia punctata, x-linked recessive 10.4 FLG KRT10
34 malignant peritoneal solitary fibrous tumor 10.4 KRT10 KRT5
35 epidermolysis bullosa simplex, koebner type 10.4 KRT10 KRT5
36 pigmented basal cell carcinoma 10.4 KRT10 KRT17
37 epicardium cancer 10.4 KRT10 KRT5
38 ichthyosis 10.4
39 dermatitis, atopic 2 10.3 FLG LOR
40 mitochondrial myopathy with lactic acidosis 10.3 KRT1 KRT5
41 lacrimal gland mucoepidermoid carcinoma 10.3 KRT10 KRT5
42 uremic neuropathy 10.3 FLG KRT1 KRT10
43 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.3 KRT10 KRT16
44 marburg hemorrhagic fever 10.2 KRT1 KRT10 KRT9
45 rare endometriosis 10.2 KRT10 KRT5
46 bamforth-lazarus syndrome 10.2 KRT1 KRT10 KRT9
47 congenital ichthyosiform erythroderma 10.2
48 lung sarcoma 10.2 FLG KRT16
49 bullous keratopathy 10.1 KRT10 KRT16
50 epidermolysis bullosa 10.1

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



Diseases related to Epidermolytic Hyperkeratosis

Symptoms & Phenotypes for Epidermolytic Hyperkeratosis

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin Histology:
vacuolation of stratum granulosum
keratin clumping in suprabasal epidermal layers
hyperkeratosis of stratum corneum
acanthotic epidermis

Skin Nails & Hair- Skin:
warty thickening of flexural skin
hyperkeratosis of palms and soles
scaly skin
skin blistering
generalized erythroderma

Skin Nails & Hair- Skin Electron Microscopy:
tonofilament aggregation in suprabasal keratinocytes


Clinical features from OMIM:

113800

Human phenotypes related to Epidermolytic Hyperkeratosis:

32
id Description HPO Frequency HPO Source Accession
1 palmoplantar hyperkeratosis 32 HP:0000972
2 erythroderma 32 HP:0001019
3 scaling skin 32 HP:0040189
4 abnormal blistering of the skin 32 HP:0008066

UMLS symptoms related to Epidermolytic Hyperkeratosis:


scaly skin

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

Drugs for Epidermolytic Hyperkeratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etomidate Approved Phase 4 33125-97-2 36339 667484
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
4
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
5 Analgesics Phase 4
6 Anesthetics Phase 4
7 Anesthetics, Dissociative Phase 4
8 Anesthetics, General Phase 4
9 Anesthetics, Intravenous Phase 4
10 Central Nervous System Depressants Phase 4
11 Excitatory Amino Acid Antagonists Phase 4
12 Excitatory Amino Acids Phase 4
13 Hypnotics and Sedatives Phase 4
14 Neurotransmitter Agents Phase 4
15 Peripheral Nervous System Agents Phase 4
16 Antibodies Phase 2
17 Antibodies, Monoclonal Phase 2
18 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Comparison of Etomidate and Ketamine for Anesthesia Induction in Coronary Artery Bypass Graft Surgery Unknown status NCT01386229 Phase 4 Ketamine;Etomidate
2 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hyperkeratosis, epidermolytic

Genetic Tests for Epidermolytic Hyperkeratosis

Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma 29
2 Congenital Bullous Ichthyosiform Erythroderma 29

Anatomical Context for Epidermolytic Hyperkeratosis

MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

39
Skin

Publications for Epidermolytic Hyperkeratosis

Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 148)
id Title Authors Year
1
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. ( 27520397 )
2016
2
Incidental focal epidermolytic hyperkeratosis in rosacea. ( 27401945 )
2016
3
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
4
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. ( 26790514 )
2015
5
Epidermolytic Hyperkeratosis--case report. ( 26734873 )
2015
6
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. ( 26373619 )
2015
7
Epidermolytic hyperkeratosis of the vulva associated with basal cell carcinoma in a patient with vaginal condyloma acuminatum and vaginal intraepithelial neoplasia harboring HPV, type 42. ( 24758505 )
2014
8
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. ( 25436919 )
2014
9
Systematized linear epidermolytic hyperkeratosis. ( 24456951 )
2014
10
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. ( 23623204 )
2013
11
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. ( 22938157 )
2013
12
Grover Disease With Features of Epidermolytic Hyperkeratosis. ( 23435360 )
2013
13
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). ( 22250628 )
2012
14
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. ( 21463361 )
2012
15
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. ( 21496707 )
2011
16
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. ( 21772595 )
2011
17
Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. ( 21838083 )
2011
18
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. ( 22068776 )
2011
19
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. ( 21773039 )
2011
20
Two cases of linear epidermolytic hyperkeratosis: therapeutic challenge with acitretin. ( 20388608 )
2010
21
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. ( 20632830 )
2010
22
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. ( 20102018 )
2009
23
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. ( 19200214 )
2009
24
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. ( 19443303 )
2009
25
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. ( 19474805 )
2009
26
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. ( 18261139 )
2008
27
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. ( 18571597 )
2008
28
Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy. ( 18505142 )
2008
29
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ( 18360110 )
2008
30
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. ( 19112765 )
2008
31
Epidermolytic hyperkeratosis type NPS-3: a case report. ( 17433175 )
2007
32
Nevus comedonicus with epidermolytic hyperkeratosis. ( 17337416 )
2007
33
Epidermolytic hyperkeratosis within infundibular cysts. ( 17381810 )
2007
34
Epidermolytic hyperkeratosis with a rare digital contracture. ( 17684790 )
2007
35
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. ( 17683385 )
2007
36
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. ( 17255957 )
2007
37
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. ( 16487115 )
2006
38
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. ( 16505000 )
2006
39
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. ( 16677804 )
2006
40
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. ( 16990804 )
2006
41
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. ( 17101470 )
2006
42
Epidermolytic hyperkeratosis. ( 16962021 )
2006
43
Epidermolytic hyperkeratosis with rickets. ( 16707822 )
2006
44
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. ( 16528356 )
2006
45
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. ( 15663649 )
2005
46
Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women. ( 16614655 )
2005
47
Complex total hip replacement in a patient with epidermolytic hyperkeratosis. A case report. ( 16322630 )
2005
48
Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. ( 16029326 )
2005
49
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
50
Epidermolytic hyperkeratosis as an incidental finding in drug-induced acne. ( 16334875 )
2005

Variations for Epidermolytic Hyperkeratosis

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

71 (show all 31)
id Symbol AA change Variation ID SNP ID
1 KRT10 p.Asn154His VAR_003826 rs57784225
2 KRT10 p.Arg156His VAR_003827 rs58075662
3 KRT10 p.Arg156Cys VAR_003828 rs58852768
4 KRT10 p.Arg156Pro VAR_003829 rs58075662
5 KRT10 p.Arg156Ser VAR_003830 rs58852768
6 KRT10 p.Tyr160Asp VAR_003831 rs58414354
7 KRT10 p.Leu161Ser VAR_003832 rs60118264
8 KRT10 p.Leu442Gln VAR_003833 rs58026994
9 KRT10 p.Met150Arg VAR_010506 rs58901407
10 KRT10 p.Met150Thr VAR_010507 rs58901407
11 KRT10 p.Tyr160Asn VAR_010508
12 KRT10 p.Tyr160Ser VAR_010509 rs58735429
13 KRT10 p.Lys439Glu VAR_010510 rs61434181
14 KRT10 p.Tyr449Cys VAR_071985 rs267607383
15 KRT1 p.Val155Gly VAR_003853 rs57959072
16 KRT1 p.Leu161Pro VAR_003854 rs57695159
17 KRT1 p.Ser186Pro VAR_003855 rs60022878
18 KRT1 p.Asn188Ser VAR_003856 rs58928370
19 KRT1 p.Ser193Pro VAR_003857 rs60937700
20 KRT1 p.Glu490Gln VAR_003861 rs60279707
21 KRT1 p.Val155Asp VAR_017820 rs57959072
22 KRT1 p.Asn188Lys VAR_017821 rs59429455
23 KRT1 p.Asn188Thr VAR_017822 rs58928370
24 KRT1 p.Leu214Pro VAR_017823 rs61549035
25 KRT1 p.Asp340Val VAR_017824 rs58062863
26 KRT1 p.Ile479Thr VAR_017826 rs57837128
27 KRT1 p.Tyr482Cys VAR_017827 rs58420087
28 KRT1 p.Leu486Pro VAR_017828 rs56914602
29 KRT1 p.Glu478Gln VAR_071986 rs59089201
30 KRT1 p.Leu485Pro VAR_071987 rs267607430
31 KRT1 p.Glu490Lys VAR_071988 rs60279707

ClinVar genetic disease variations for Epidermolytic Hyperkeratosis:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT10 KRT10, ARG10HIS single nucleotide variant Pathogenic
2 KRT10 NM_000421.3(KRT10): c.482T> C (p.Leu161Ser) single nucleotide variant Pathogenic rs60118264 GRCh37 Chromosome 17, 38978356: 38978356
3 KRT10 KRT10, ARG10LEU undetermined variant Pathogenic
4 KRT10 NM_000421.3(KRT10): c.460A> C (p.Asn154His) single nucleotide variant Pathogenic rs57784225 GRCh37 Chromosome 17, 38978378: 38978378
5 KRT10 NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp) single nucleotide variant Pathogenic rs58414354 GRCh37 Chromosome 17, 38978360: 38978360
6 KRT10 NM_000421.3(KRT10): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs58075662 GRCh37 Chromosome 17, 38978371: 38978371
7 KRT10 KRT10, ARG10CYS undetermined variant Pathogenic
8 KRT10 NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln) single nucleotide variant Pathogenic rs58026994 GRCh37 Chromosome 17, 38975817: 38975817
9 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh37 Chromosome 17, 38978372: 38978372
10 KRT10 NM_000421.3(KRT10): c.449T> G (p.Met150Arg) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
11 KRT10 NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu) single nucleotide variant Pathogenic rs61434181 GRCh37 Chromosome 17, 38975827: 38975827
12 KRT10 NM_000421.3(KRT10): c.449T> C (p.Met150Thr) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
13 KRT1 NM_006121.3(KRT1): c.931G> C (p.Glu311Gln) single nucleotide variant Pathogenic rs137853224 GRCh37 Chromosome 12, 53071466: 53071466
14 KRT1 NM_006121.3(KRT1): c.482T> C (p.Leu161Pro) single nucleotide variant Pathogenic rs57695159 GRCh37 Chromosome 12, 53073651: 53073651
15 KRT1 NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys) single nucleotide variant Pathogenic rs58420087 GRCh37 Chromosome 12, 53070089: 53070089
16 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh37 Chromosome 12, 53073669: 53073669
17 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh37 Chromosome 12, 53073569: 53073569
18 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh37 Chromosome 12, 53070110: 53070110
19 KRT1 KRT1, 1-BP INS, 1752G insertion Pathogenic
20 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh37 Chromosome 17, 38975842: 38975842
21 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh37 Chromosome 17, 38975861: 38975861
22 KRT10 KRT10, 1-BP INS, 1325C insertion Pathogenic
23 KRT10 KRT10, IVS5DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Epidermolytic Hyperkeratosis

Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.

Pathways for Epidermolytic Hyperkeratosis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 FLG KRT1 KRT10 KRT16 KRT17 KRT2
2 11.92 KRT10 KRT17 KRT5
3
Show member pathways
11.78 FLG KRT1 KRT10 KRT16 KRT17 KRT2
4
Show member pathways
11.59 KRT1 KRT16 KRT17 KRT2 KRT5

GO Terms for Epidermolytic Hyperkeratosis

Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.87 KRT1 KRT10 KRT16 KRT17 KRT2 KRT5
2 cytosol GO:0005829 9.85 FLG KRT1 KRT10 KRT16 KRT17 KRT2
3 keratin filament GO:0045095 9.43 KRT1 KRT2 KRT5
4 cornified envelope GO:0001533 9.43 FLG KRT1 KRT10 KRT2 LOR TCHH
5 intermediate filament GO:0005882 9.23 FLG KRT1 KRT10 KRT16 KRT17 KRT2

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

id Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.72 KRT16 KRT17 KRT2 KRT5 KRT9
2 keratinocyte differentiation GO:0030216 9.67 FLG KRT10 KRT16 LOR
3 cytoskeleton organization GO:0007010 9.65 KRT16 KRT5 LOR
4 peptide cross-linking GO:0018149 9.65 FLG KRT1 KRT10 KRT2 LOR
5 cornification GO:0070268 9.65 FLG KRT1 KRT10 KRT16 KRT17 KRT2
6 establishment of skin barrier GO:0061436 9.61 FLG KRT1 KRT16
7 intermediate filament organization GO:0045109 9.58 KRT17 KRT2 KRT9
8 skin epidermis development GO:0098773 9.55 FLG KRT1 KRT10 KRT2 LOR
9 keratinocyte migration GO:0051546 9.46 KRT16 KRT2
10 keratinization GO:0031424 9.28 KRT1 KRT10 KRT16 KRT17 KRT2 KRT5

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.63 KRT16 KRT17 KRT2 KRT5 KRT9 LOR
2 structural molecule activity GO:0005198 9.43 FLG KRT1 KRT16 KRT17 KRT2 LOR
3 transition metal ion binding GO:0046914 9.26 FLG TCHH
4 structural constituent of epidermis GO:0030280 9.02 FLG KRT1 KRT10 KRT2 LOR

Sources for Epidermolytic Hyperkeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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