EHK
MCID: EPD002
MIFTS: 55

Epidermolytic Hyperkeratosis (EHK)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolytic Hyperkeratosis

MalaCards integrated aliases for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 57 12 76 53 25 59 75 13 15
Bullous Congenital Ichthyosiform Erythroderma 57 12 53 25 59 75 37 55
Bullous Ichthyosiform Erythroderma 57 12 53 25 75 29 6
Bcie 57 53 25 59 75
Ehk 57 53 25 59 75
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 57 53 25 75
Epidermolytic Ichthyosis 57 53 25 59
Hyperkeratosis, Epidermolytic 25 44 73
Bie 57 25 75
Bullous Congenital Ichthyosiform Erythroderma of Brock 59
Bullous Congenital Ichthyosiform Erythroderma; Bcie 57
Congenital Bullous Ichthyosiform Erythroderma 53
Bullous Ichthyosiform Erythroderma Congenita 53
Epidermolytic Palmoplantar Hyperkeratosis 12
Epidermolytic Hyperkeratosis, Late-Onset 6
Bullous Ichthyosiform Erythroderma; Bie 57
Epidermolytic Hyperkeratosis Late-Onset 75
Bullous Erythroderma Ichthyosiforme 25
Epidermolytic Hyperkeratosis ) 40
Bullous Ichthyosis 59
Ei 59

Characteristics:

Orphanet epidemiological data:

59
epidermolytic ichthyosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (in some families)

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


HPO:

32
epidermolytic hyperkeratosis:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 113800
Disease Ontology 12 DOID:4603
ICD10 33 Q80.3
MeSH 44 D017488
NCIt 50 C62569
Orphanet 59 ORPHA312
UMLS via Orphanet 74 C0079153
ICD10 via Orphanet 34 Q80.3
KEGG 37 H00691
UMLS 73 C0079153

Summaries for Epidermolytic Hyperkeratosis

OMIM : 57 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 scaly skin An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways/superpathways are Developmental Biology and Circadian entrainment. The drugs Etomidate and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are erythroderma and weight loss

UniProtKB/Swiss-Prot : 75 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 : 53 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.

CDC : 3 EIS is a long-standing, globally-recognized fellowship program, renowned for its investigative and emergency response efforts. Learn about the disease detectives and alumni who make up this program’s distinguished network.

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 : 76 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 90)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, cyclic, with epidermolytic hyperkeratosis 34.6 KRT1 KRT10
2 palmoplantar keratoderma, epidermolytic 31.8 KRT1 KRT16 KRT17 KRT9
3 epidermolysis bullosa simplex 30.5 KRT1 KRT10 KRT5
4 ichthyosis bullosa of siemens 29.9 KRT1 KRT10 KRT16 KRT2 KRT5 KRT9
5 keratosis 29.8 FLG KRT1 KRT10 KRT9
6 lichen planus 29.7 FLG KRT10 KRT16
7 ichthyosis 29.6 FLG KRT1 KRT10 KRT2 LOR
8 congenital ichthyosiform erythroderma 29.4 FLG KRT1 KRT10 KRT2 LOR
9 basal cell carcinoma 28.3 KRT10 KRT16 KRT17 TCHH
10 palmoplantar keratosis 28.2 KRT1 KRT16 KRT5 KRT9 LOR
11 skin disease 25.9 FLG KRT1 KRT10 KRT16 KRT17 KRT5
12 ichthyosis, congenital, autosomal recessive 2 12.0
13 nevus, epidermal 11.4
14 epidermolytic nevus 11.1
15 estrogen resistance 11.0
16 ichthyosis hystrix gravior 11.0
17 palmoplantar keratoderma, bothnian type 11.0
18 wilson disease 10.9
19 menkes disease 10.9
20 erythroderma, ichthyosiform, congenital reticular 10.7 KRT1 KRT10
21 striate palmoplantar keratoderma 10.6 KRT1 KRT10
22 ichthyosis hystrix, curth-macklin type 10.6 KRT1 KRT5
23 epidermolysis bullosa simplex with mottled pigmentation 10.5 KRT10 KRT5
24 breast squamous cell carcinoma 10.5 KRT10 KRT5
25 gastric squamous cell carcinoma 10.5 KRT10 KRT5
26 exfoliative ichthyosis 10.5 KRT2 KRT5
27 ichthyosis, x-linked 10.5 FLG KRT10
28 malignant biphasic mesothelioma 10.4 KRT10 KRT5
29 epidermolysis bullosa simplex, dowling-meara type 10.4 KRT10 KRT5
30 basal cell carcinoma, infundibulocystic 10.4 KRT10 KRT17
31 intraneural perineurioma 10.4 KRT10 KRT5
32 dermatitis, atopic, 2 10.3 FLG LOR
33 nevus comedonicus 10.3
34 osteofibrous dysplasia 10.3 KRT1 KRT5
35 filamentary keratitis 10.3 FLG KRT1 KRT10
36 squamous cell carcinoma of the oral tongue 10.3 KRT10 KRT16
37 skin benign neoplasm 10.2 KRT1 KRT5
38 epidermodysplasia verruciformis 10.2 KRT1 KRT10
39 epidermolytic acanthoma 10.2 KRT1 KRT10 KRT9
40 acanthoma 10.2 KRT1 KRT10 KRT9
41 epidermolysis bullosa 10.2
42 molluscum contagiosum 10.2 FLG LOR
43 irritant dermatitis 10.1 FLG KRT16
44 pinguecula 10.1 KRT10 KRT16
45 basal cell carcinoma 1 10.1
46 pre-malignant neoplasm 10.1 KRT17 KRT5
47 pachyonychia congenita 2 10.0 KRT16 KRT17
48 tinea corporis 10.0 KRT16 KRT17
49 median rhomboid glossitis 10.0 KRT16 KRT17
50 in situ carcinoma 10.0 KRT17 KRT5

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:

57
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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001019
2 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
3 poor appetite 59 32 hallmark (90%) Very frequent (99-80%) HP:0004396
4 congenital bullous ichthyosiform erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007475
5 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
6 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
7 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
8 conjunctival hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100780
9 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
10 hyperkeratosis 59 Very frequent (99-80%)
11 ichthyosis 59 Very frequent (99-80%)
12 palmoplantar hyperkeratosis 32 HP:0000972
13 epidermal acanthosis 32 HP:0025092
14 scaling skin 32 HP:0040189

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 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:


# 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
3 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 KRT1 KRT10

Anatomical Context for Epidermolytic Hyperkeratosis

MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

41
Skin

Publications for Epidermolytic Hyperkeratosis

Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 149)
# Title Authors Year
1
Extramammary Paget disease with histologic presence of epidermolytic hyperkeratosis: An unusual presentation. ( 29536968 )
2018
2
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. ( 27520397 )
2016
3
Incidental focal epidermolytic hyperkeratosis in rosacea. ( 27401945 )
2016
4
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
5
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. ( 26790514 )
2015
6
Epidermolytic Hyperkeratosis--case report. ( 26734873 )
2015
7
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. ( 26373619 )
2015
8
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. ( 25436919 )
2014
9
Systematized linear epidermolytic hyperkeratosis. ( 24456951 )
2014
10
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
11
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. ( 23623204 )
2013
12
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. ( 22938157 )
2013
13
Grover Disease With Features of Epidermolytic Hyperkeratosis. ( 23435360 )
2013
14
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. ( 21463361 )
2012
15
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). ( 22250628 )
2012
16
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. ( 21496707 )
2011
17
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. ( 22068776 )
2011
18
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. ( 21772595 )
2011
19
Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. ( 21838083 )
2011
20
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. ( 21773039 )
2011
21
Two cases of linear epidermolytic hyperkeratosis: therapeutic challenge with acitretin. ( 20388608 )
2010
22
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. ( 20632830 )
2010
23
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. ( 19474805 )
2009
24
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. ( 19443303 )
2009
25
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. ( 20102018 )
2009
26
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. ( 19200214 )
2009
27
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. ( 19112765 )
2008
28
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. ( 18261139 )
2008
29
Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy. ( 18505142 )
2008
30
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. ( 18571597 )
2008
31
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ( 18360110 )
2008
32
Epidermolytic hyperkeratosis with a rare digital contracture. ( 17684790 )
2007
33
Epidermolytic hyperkeratosis type NPS-3: a case report. ( 17433175 )
2007
34
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. ( 17255957 )
2007
35
Epidermolytic hyperkeratosis within infundibular cysts. ( 17381810 )
2007
36
Nevus comedonicus with epidermolytic hyperkeratosis. ( 17337416 )
2007
37
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. ( 17683385 )
2007
38
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. ( 17101470 )
2006
39
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. ( 16528356 )
2006
40
Epidermolytic hyperkeratosis with rickets. ( 16707822 )
2006
41
Epidermolytic hyperkeratosis. ( 16962021 )
2006
42
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. ( 16505000 )
2006
43
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. ( 16677804 )
2006
44
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. ( 16990804 )
2006
45
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. ( 16487115 )
2006
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
Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. ( 16029326 )
2005
48
Epidermolytic hyperkeratosis as an incidental finding in drug-induced acne. ( 16334875 )
2005
49
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. ( 15663649 )
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:

75 (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 top 50) (show all 98)
# 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 NM_000421.3(KRT10): c.482T> C (p.Leu161Ser) single nucleotide variant Pathogenic rs60118264 GRCh38 Chromosome 17, 40822104: 40822104
4 KRT10 KRT10, ARG10LEU undetermined variant Pathogenic
5 KRT10 NM_000421.3(KRT10): c.460A> C (p.Asn154His) single nucleotide variant Pathogenic rs57784225 GRCh37 Chromosome 17, 38978378: 38978378
6 KRT10 NM_000421.3(KRT10): c.460A> C (p.Asn154His) single nucleotide variant Pathogenic rs57784225 GRCh38 Chromosome 17, 40822126: 40822126
7 KRT10 NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp) single nucleotide variant Pathogenic rs58414354 GRCh37 Chromosome 17, 38978360: 38978360
8 KRT10 NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp) single nucleotide variant Pathogenic rs58414354 GRCh38 Chromosome 17, 40822108: 40822108
9 KRT10 NM_000421.3(KRT10): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs58075662 GRCh37 Chromosome 17, 38978371: 38978371
10 KRT10 NM_000421.3(KRT10): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs58075662 GRCh38 Chromosome 17, 40822119: 40822119
11 KRT10 KRT10, ARG10CYS undetermined variant Pathogenic
12 KRT10 NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln) single nucleotide variant Pathogenic rs58026994 GRCh37 Chromosome 17, 38975817: 38975817
13 KRT10 NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln) single nucleotide variant Pathogenic rs58026994 GRCh38 Chromosome 17, 40819565: 40819565
14 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh37 Chromosome 17, 38978372: 38978372
15 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh38 Chromosome 17, 40822120: 40822120
16 KRT10 NM_000421.3(KRT10): c.449T> G (p.Met150Arg) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
17 KRT10 NM_000421.3(KRT10): c.449T> G (p.Met150Arg) single nucleotide variant Pathogenic rs58901407 GRCh38 Chromosome 17, 40822137: 40822137
18 KRT10 NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu) single nucleotide variant Pathogenic rs61434181 GRCh37 Chromosome 17, 38975827: 38975827
19 KRT10 NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu) single nucleotide variant Pathogenic rs61434181 GRCh38 Chromosome 17, 40819575: 40819575
20 KRT10 NM_000421.3(KRT10): c.449T> C (p.Met150Thr) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
21 KRT10 NM_000421.3(KRT10): c.449T> C (p.Met150Thr) single nucleotide variant Pathogenic rs58901407 GRCh38 Chromosome 17, 40822137: 40822137
22 KRT1 NM_006121.3(KRT1): c.931G> C (p.Glu311Gln) single nucleotide variant Pathogenic rs137853224 GRCh37 Chromosome 12, 53071466: 53071466
23 KRT1 NM_006121.3(KRT1): c.931G> C (p.Glu311Gln) single nucleotide variant Pathogenic rs137853224 GRCh38 Chromosome 12, 52677682: 52677682
24 KRT1 NM_006121.3(KRT1): c.482T> C (p.Leu161Pro) single nucleotide variant Pathogenic rs57695159 GRCh37 Chromosome 12, 53073651: 53073651
25 KRT1 NM_006121.3(KRT1): c.482T> C (p.Leu161Pro) single nucleotide variant Pathogenic rs57695159 GRCh38 Chromosome 12, 52679867: 52679867
26 KRT1 NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys) single nucleotide variant Pathogenic rs58420087 GRCh37 Chromosome 12, 53070089: 53070089
27 KRT1 NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys) single nucleotide variant Pathogenic rs58420087 GRCh38 Chromosome 12, 52676305: 52676305
28 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh37 Chromosome 12, 53073669: 53073669
29 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh38 Chromosome 12, 52679885: 52679885
30 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh37 Chromosome 12, 53073569: 53073569
31 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh38 Chromosome 12, 52679785: 52679785
32 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh37 Chromosome 12, 53070110: 53070110
33 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh38 Chromosome 12, 52676326: 52676326
34 KRT1 KRT1, 1-BP INS, 1752G insertion Pathogenic
35 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh37 Chromosome 17, 38975842: 38975842
36 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh38 Chromosome 17, 40819590: 40819590
37 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh37 Chromosome 17, 38975861: 38975861
38 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh38 Chromosome 17, 40819609: 40819609
39 KRT10 KRT10, 1-BP INS, 1325C insertion Pathogenic
40 KRT10 KRT10, IVS5DS, G-A, +5 single nucleotide variant Pathogenic
41 KRT1 NM_006121.3(KRT1): c.623T> C (p.Leu208Pro) single nucleotide variant Pathogenic rs61616632 GRCh37 Chromosome 12, 53072509: 53072509
42 KRT1 NM_006121.3(KRT1): c.623T> C (p.Leu208Pro) single nucleotide variant Pathogenic rs61616632 GRCh38 Chromosome 12, 52678725: 52678725
43 KRT1 NM_006121.3(KRT1): c.*91T> C single nucleotide variant Likely benign rs560913567 GRCh37 Chromosome 12, 53068886: 53068886
44 KRT1 NM_006121.3(KRT1): c.*91T> C single nucleotide variant Likely benign rs560913567 GRCh38 Chromosome 12, 52675102: 52675102
45 KRT1 NM_006121.3(KRT1): c.1912A> G (p.Thr638Ala) single nucleotide variant Likely benign rs140098565 GRCh37 Chromosome 12, 53069000: 53069000
46 KRT1 NM_006121.3(KRT1): c.1912A> G (p.Thr638Ala) single nucleotide variant Likely benign rs140098565 GRCh38 Chromosome 12, 52675216: 52675216
47 KRT1 NM_006121.3(KRT1): c.1482T> C (p.Ser494=) single nucleotide variant Likely benign rs181516749 GRCh38 Chromosome 12, 52675738: 52675738
48 KRT1 NM_006121.3(KRT1): c.1482T> C (p.Ser494=) single nucleotide variant Likely benign rs181516749 GRCh37 Chromosome 12, 53069522: 53069522
49 KRT1 NM_006121.3(KRT1): c.1475+14G> A single nucleotide variant Uncertain significance rs369324638 GRCh38 Chromosome 12, 52676261: 52676261
50 KRT1 NM_006121.3(KRT1): c.1475+14G> A single nucleotide variant Uncertain significance rs369324638 GRCh37 Chromosome 12, 53070045: 53070045

Expression for Epidermolytic Hyperkeratosis

Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.

Pathways for Epidermolytic Hyperkeratosis

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 peptide cross-linking GO:0018149 9.65 FLG KRT1 KRT10 KRT2 LOR
2 cornification GO:0070268 9.65 FLG KRT1 KRT10 KRT16 KRT17 KRT2
3 cytoskeleton organization GO:0007010 9.63 KRT16 KRT5 LOR
4 epidermis development GO:0008544 9.63 FLG KRT16 KRT17 KRT2 KRT5 KRT9
5 keratinocyte differentiation GO:0030216 9.62 FLG KRT10 KRT16 LOR
6 intermediate filament organization GO:0045109 9.54 KRT17 KRT2 KRT9
7 establishment of skin barrier GO:0061436 9.43 FLG KRT16
8 keratinocyte migration GO:0051546 9.4 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....