MCID: EPD002
MIFTS: 56

Epidermolytic Hyperkeratosis

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolytic Hyperkeratosis

MalaCards integrated aliases for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 53 12 72 49 24 55 71 13 14
Bullous Congenital Ichthyosiform Erythroderma 53 12 49 24 55 71 36 51
Bullous Ichthyosiform Erythroderma 53 12 49 24 71 28
Bcie 53 49 24 55 71
Ehk 53 49 24 55 71
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 53 49 24 71
Epidermolytic Ichthyosis 53 49 24 55
Hyperkeratosis, Epidermolytic 24 41 69
Bie 53 24 71
Congenital Bullous Ichthyosiform Erythroderma 49 28
Bullous Congenital Ichthyosiform Erythroderma of Brock 55
Bullous Congenital Ichthyosiform Erythroderma; Bcie 53
Bullous Ichthyosiform Erythroderma Congenita 49
Epidermolytic Palmoplantar Hyperkeratosis 12
Bullous Ichthyosiform Erythroderma; Bie 53
Epidermolytic Hyperkeratosis Late-Onset 71
Bullous Erythroderma Ichthyosiforme 24
Bullous Ichthyosis 55
Ei 55

Characteristics:

Orphanet epidemiological data:

55
epidermolytic ichthyosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive (in some families)

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


HPO:

31
epidermolytic hyperkeratosis:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 113800
Disease Ontology 12 DOID:4603
ICD10 32 Q80.3
MeSH 41 D017488
NCIt 46 C62569
Orphanet 55 ORPHA312
UMLS via Orphanet 70 C0079153
ICD10 via Orphanet 33 Q80.3
KEGG 36 H00691
UMLS 69 C0079153

Summaries for Epidermolytic Hyperkeratosis

OMIM : 53 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 ichthyosis, cyclic, with epidermolytic hyperkeratosis and palmoplantar keratoderma, epidermolytic, and has symptoms including palmoplantar keratoderma, abnormal blistering of the skin and weight loss. 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.

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.

NIH Rare Diseases : 49 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

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 : 24 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 related to Epidermolytic Hyperkeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, cyclic, with epidermolytic hyperkeratosis 34.2 KRT1 KRT10
2 palmoplantar keratoderma, epidermolytic 32.0 KRT1 KRT16 KRT17 KRT9
3 palmoplantar keratoderma, bothnian type 32.0 KRT1 KRT9
4 ichthyosis bullosa of siemens 30.7 KRT1 KRT10 KRT16 KRT2 KRT5 KRT9
5 ichthyosis 30.0 FLG KRT1 KRT10 KRT2 LOR
6 lichen planus 29.8 FLG KRT10 KRT16
7 epidermolysis bullosa simplex 29.4 FLG KRT1 KRT10 KRT17 KRT5
8 keratosis 29.3 FLG KRT1 KRT10 KRT17 KRT9
9 congenital ichthyosiform erythroderma 29.2 FLG KRT1 KRT10 KRT2 KRT9 LOR
10 basal cell carcinoma 28.5 KRT10 KRT16 KRT17 KRT5 TCHH
11 skin disease 28.0 FLG KRT1 KRT10 KRT16 KRT5 KRT9
12 ichthyosis, congenital, autosomal recessive 2 12.0
13 epidermolytic nevus 11.1
14 ichthyosis hystrix gravior 11.0
15 nevus, epidermal 11.0
16 estrogen resistance 11.0
17 wilson disease 10.9
18 menkes disease 10.9
19 erythroderma, ichthyosiform, congenital reticular 10.4 KRT1 KRT10
20 striate palmoplantar keratoderma 10.4 KRT1 KRT10
21 ichthyosis hystrix, curth-macklin type 10.3 KRT1 KRT5
22 epidermolysis bullosa simplex with mottled pigmentation 10.3 KRT10 KRT5
23 breast squamous cell carcinoma 10.3 KRT10 KRT5
24 gastric squamous cell carcinoma 10.3 KRT10 KRT5
25 exfoliative ichthyosis 10.3 KRT2 KRT5
26 nevus comedonicus 10.3
27 ichthyosis, x-linked 10.3 FLG KRT10
28 malignant biphasic mesothelioma 10.3 KRT10 KRT5
29 epidermolysis bullosa simplex, dowling-meara type 10.3 KRT10 KRT5
30 recessive dystrophic epidermolysis bullosa 10.3 FLG KRT1
31 basal cell carcinoma, infundibulocystic 10.3 KRT10 KRT17
32 breast metaplastic carcinoma 10.2 KRT10 KRT5
33 intraneural perineurioma 10.2 KRT10 KRT5
34 dermatitis, atopic, 2 10.2 FLG LOR
35 epidermolysis bullosa 10.2
36 osteofibrous dysplasia 10.2 KRT1 KRT5
37 filamentary keratitis 10.2 FLG KRT1 KRT10
38 epidermodysplasia verruciformis 10.2 FLG KRT1 KRT10
39 squamous cell carcinoma of the oral tongue 10.2 KRT10 KRT16
40 epidermolytic acanthoma 10.1 KRT1 KRT10 KRT9
41 acanthoma 10.1 KRT1 KRT10 KRT9
42 blood group, i system 10.1
43 basal cell carcinoma 1 10.1
44 skin benign neoplasm 10.1 KRT1 KRT5
45 ichthyosis, congenital, autosomal recessive 1 10.1 FLG KRT10
46 molluscum contagiosum 10.1 FLG LOR
47 irritant dermatitis 10.1 FLG KRT16
48 pinguecula 10.0 KRT10 KRT16
49 pachyonychia congenita 2 10.0 KRT16 KRT17
50 tinea corporis 10.0 KRT16 KRT17

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:

53
Skin Nails Hair Skin:
scaly skin
generalized erythroderma
skin blistering
hyperkeratosis of palms and soles
warty thickening of flexural skin

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

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


Clinical features from OMIM:

113800

Human phenotypes related to Epidermolytic Hyperkeratosis:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000982
2 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
3 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 skin ulcer 55 31 occasional (7.5%) Occasional (29-5%) HP:0200042
5 cutaneous photosensitivity 55 31 frequent (33%) Frequent (79-30%) HP:0000992
6 conjunctival hamartoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0100780
7 erythroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001019
8 poor appetite 55 31 hallmark (90%) Very frequent (99-80%) HP:0004396
9 congenital bullous ichthyosiform erythroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0007475
10 ichthyosis 55 Very frequent (99-80%)
11 hyperkeratosis 55 Very frequent (99-80%)
12 scaling skin 31 HP:0040189
13 palmoplantar hyperkeratosis 31 HP:0000972
14 epidermal acanthosis 31 HP:0025092

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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etomidate Approved Phase 4 33125-97-2 667484 36339
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:


# 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 47 :


Cochrane evidence based reviews: hyperkeratosis, epidermolytic

Genetic Tests for Epidermolytic Hyperkeratosis

Genetic tests related to Epidermolytic Hyperkeratosis:

# Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma 28 KRT1 KRT10
2 Congenital Bullous Ichthyosiform Erythroderma 28

Anatomical Context for Epidermolytic Hyperkeratosis

MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

38
Skin

Publications for Epidermolytic Hyperkeratosis

Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 148)
# 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
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. ( 26373619 )
2015
5
Epidermolytic Hyperkeratosis--case report. ( 26734873 )
2015
6
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. ( 26790514 )
2015
7
Systematized linear epidermolytic hyperkeratosis. ( 24456951 )
2014
8
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
9
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. ( 25436919 )
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
Grover Disease With Features of Epidermolytic Hyperkeratosis. ( 23435360 )
2013
12
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. ( 22938157 )
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
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. ( 21772595 )
2011
16
Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. ( 21838083 )
2011
17
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. ( 21496707 )
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
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. ( 19474805 )
2009
23
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. ( 20102018 )
2009
24
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. ( 19443303 )
2009
25
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. ( 19200214 )
2009
26
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ( 18360110 )
2008
27
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. ( 19112765 )
2008
28
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. ( 18571597 )
2008
29
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. ( 18261139 )
2008
30
Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy. ( 18505142 )
2008
31
Nevus comedonicus with epidermolytic hyperkeratosis. ( 17337416 )
2007
32
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. ( 17683385 )
2007
33
Epidermolytic hyperkeratosis with a rare digital contracture. ( 17684790 )
2007
34
Epidermolytic hyperkeratosis within infundibular cysts. ( 17381810 )
2007
35
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. ( 17255957 )
2007
36
Epidermolytic hyperkeratosis type NPS-3: a case report. ( 17433175 )
2007
37
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. ( 16677804 )
2006
38
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. ( 16528356 )
2006
39
Epidermolytic hyperkeratosis. ( 16962021 )
2006
40
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. ( 17101470 )
2006
41
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. ( 16505000 )
2006
42
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. ( 16487115 )
2006
43
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. ( 16990804 )
2006
44
Epidermolytic hyperkeratosis with rickets. ( 16707822 )
2006
45
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. ( 15663649 )
2005
46
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
47
Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women. ( 16614655 )
2005
48
Epidermolytic hyperkeratosis as an incidental finding in drug-induced acne. ( 16334875 )
2005
49
Complex total hip replacement in a patient with epidermolytic hyperkeratosis. A case report. ( 16322630 )
2005
50
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. ( 15663507 )
2005

Variations for Epidermolytic Hyperkeratosis

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

71 (show all 31)
# 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 24)
# 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
24 KRT1 NM_006121.3(KRT1): c.623T> C (p.Leu208Pro) single nucleotide variant Pathogenic rs61616632 GRCh37 Chromosome 12, 53072509: 53072509

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:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.65 KRT16 KRT17 KRT2 KRT5 KRT9
2 cornification GO:0070268 9.65 FLG KRT1 KRT10 KRT16 KRT17 KRT2
3 cytoskeleton organization GO:0007010 9.63 KRT16 KRT5 LOR
4 keratinocyte differentiation GO:0030216 9.62 FLG KRT10 KRT16 LOR
5 establishment of skin barrier GO:0061436 9.58 FLG KRT1 KRT16
6 peptide cross-linking GO:0018149 9.55 FLG KRT1 KRT10 KRT2 LOR
7 intermediate filament organization GO:0045109 9.54 KRT17 KRT2 KRT9
8 keratinocyte migration GO:0051546 9.43 KRT16 KRT2
9 keratinization GO:0031424 9.28 KRT1 KRT10 KRT16 KRT17 KRT2 KRT5

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

# 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 9.5 FLG KRT1 KRT10 KRT16 KRT17 KRT2
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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