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EHK
MCID: EPD002
MIFTS: 55

Epidermolytic Hyperkeratosis (EHK)

Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Epidermolytic Hyperkeratosis

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MalaCards integrated aliases for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 58 12 77 54 26 76 13 15
Bullous Congenital Ichthyosiform Erythroderma 58 12 54 26 76 38 56 15
Bullous Ichthyosiform Erythroderma 58 12 54 26 76 30 6
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 58 54 26 76
Bcie 58 54 26 76
Ehk 58 54 26 76
Hyperkeratosis, Epidermolytic 26 45 74
Epidermolytic Ichthyosis 58 54 26
Bie 58 26 76
Ichthyosis Bullosa of Siemens 12 45
Bullous Congenital Ichthyosiform Erythroderma; Bcie 58
Congenital Bullous Ichthyosiform Erythroderma 54
Bullous Ichthyosiform Erythroderma Congenita 54
Epidermolytic Palmoplantar Hyperkeratosis 12
Epidermolytic Hyperkeratosis, Late-Onset 6
Bullous Ichthyosiform Erythroderma; Bie 58
Epidermolytic Hyperkeratosis Late-Onset 76
Superficial Epidermolytic Ichthyosis 12
Bullous Erythroderma Ichthyosiforme 26
Epidermolytic Hyperkeratosis ) 41
Bullous Type Ichthyosis 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
autosomal recessive (in some families)

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


HPO:

33
epidermolytic hyperkeratosis:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34


Sources

Summaries for Epidermolytic Hyperkeratosis

About this section
OMIM : 58 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 autosomal dominant epidermolytic ichthyosis, 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 Midazolam have been mentioned in the context of this disorder. Affiliated tissues include skin and breast, and related phenotypes are ichthyosis and palmoplantar keratoderma

Disease Ontology : 12 An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has material basis in heterozygous mutation in the KRT2 gene on chromosome 12q13.

Genetics Home Reference : 26 Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 Epidermolytic hyperkeratosis: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.

Wikipedia : 77 Epidermolytic ichthyosis (EI), (also known as "Bullous Epidermis Ichthyosis (BEI)", epidermolytic... more...

Sources

Related Diseases for Epidermolytic Hyperkeratosis

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

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, cyclic, with epidermolytic hyperkeratosis 34.4 KRT1 KRT10
2 autosomal dominant epidermolytic ichthyosis 32.8 KRT1 KRT10
3 ichthyosis bullosa of siemens 32.6 KRT1 KRT10 KRT2
4 nevus, epidermal 32.3 KRT10 KRT16
5 palmoplantar keratoderma, epidermolytic 32.2 FLG KRT1 KRT10 KRT16 KRT9 LOR
6 ichthyosis hystrix, curth-macklin type 32.0 KRT1 KRT5
7 palmoplantar keratoderma, bothnian type 31.6 KRT16 KRT17 KRT9
8 exfoliative ichthyosis 31.1 KRT2 KRT5
9 epidermolysis bullosa simplex 30.5 KRT1 KRT10 KRT5
10 autosomal recessive congenital ichthyosis 30.3 FLG KRT10 LOR
11 keratosis 30.3 FLG KRT1 KRT10 KRT9
12 keratosis, seborrheic 30.3 KRT10 KRT17 KRT5
13 lichen planus 30.0 FLG KRT10 KRT16
14 basal cell carcinoma 30.0 KRT10 KRT17 TCHH
15 ichthyosis 30.0 FLG KRT1 KRT10 KRT2 KRT5 LOR
16 palmoplantar keratosis 29.5 KRT1 KRT16 KRT5 KRT9 LOR
17 skin disease 28.2 FLG KRT1 KRT10 KRT16 KRT17 KRT5
18 autosomal recessive epidermolytic ichthyosis 12.4
19 ichthyosis, congenital, autosomal recessive 2 12.4
20 ichthyosis, congenital, autosomal recessive 3 11.9
21 ichthyosis, congenital, autosomal recessive 1 11.6
22 ichthyosis, congenital, autosomal recessive 4a 11.6
23 ichthyosis, congenital, autosomal recessive 11 11.6
24 ichthyosis, congenital, autosomal recessive 5 11.6
25 ichthyosis, congenital, autosomal recessive 6 11.6
26 ichthyosis, congenital, autosomal recessive 8 11.6
27 ichthyosis, congenital, autosomal recessive 9 11.6
28 ichthyosis, congenital, autosomal recessive 10 11.6
29 ichthyosis, congenital, autosomal recessive 12 11.6
30 ichthyosis, congenital, autosomal recessive 14 11.6
31 ichthyosis, congenital, autosomal recessive 13 11.6
32 ichthyosis, congenital, autosomal recessive 4b 11.4
33 chanarin-dorfman syndrome 11.4
34 epidermolytic nevus 11.3
35 peeling skin syndrome 4 11.3
36 recessive dystrophic epidermolysis bullosa-generalized other 11.3
37 ichthyosis hystrix gravior 11.2
38 wilson disease 11.1
39 menkes disease 11.1
40 nevus comedonicus 10.5
41 epidermolysis bullosa 10.3
42 epidermolytic acanthoma 10.3 KRT1 KRT10
43 erythroderma, ichthyosiform, congenital reticular 10.3 KRT1 KRT10
44 striate palmoplantar keratoderma 10.3 KRT1 KRT10
45 basal cell carcinoma 1 10.3
46 melanoma in congenital melanocytic nevus 10.3
47 breast squamous cell carcinoma 10.2 KRT10 KRT5
48 epidermolysis bullosa simplex with mottled pigmentation 10.2 KRT10 KRT5
49 noonan syndrome 1 10.2
50 vitamin d-dependent rickets, type 2a 10.2

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



Diseases related to Epidermolytic Hyperkeratosis
Sources

Symptoms & Phenotypes for Epidermolytic Hyperkeratosis

About this section

Human phenotypes related to Epidermolytic Hyperkeratosis:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ichthyosis 33 hallmark (90%) HP:0008064
2 palmoplantar keratoderma 33 hallmark (90%) HP:0000982
3 abnormal blistering of the skin 33 hallmark (90%) HP:0008066
4 edema 33 hallmark (90%) HP:0000969
5 thin skin 33 hallmark (90%) HP:0000963
6 acantholysis 33 hallmark (90%) HP:0100792
7 erythema 33 occasional (7.5%) HP:0010783
8 scaling skin 33 HP:0040189
9 erythroderma 33 HP:0001019
10 epidermal acanthosis 33 HP:0025092
11 palmoplantar hyperkeratosis 33 HP:0000972
12 congenital bullous ichthyosiform erythroderma 33 HP:0007475

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Epidermolytic Hyperkeratosis:


scaly skin
Sources

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etomidate Approved Phase 4 33125-97-2 667484 36339
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5 Anesthetics Phase 4
6 Excitatory Amino Acids Phase 4
7 Anesthetics, Intravenous Phase 4
8 Neurotransmitter Agents Phase 4
9 Anesthetics, General Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Excitatory Amino Acid Antagonists Phase 4
12 Analgesics Phase 4
13 Hypnotics and Sedatives Phase 4
14 Anesthetics, Dissociative Phase 4
15 Central Nervous System Depressants Phase 4
16 Immunoglobulins Phase 2
17 Antibodies, Monoclonal Phase 2
18 Immunologic Factors Phase 2
19 Antibodies 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 Active, not 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 74 / NDF-RT 52 :


Cochrane evidence based reviews: ichthyosis bullosa of siemens

Sources

Genetic Tests for Epidermolytic Hyperkeratosis

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Genetic tests related to Epidermolytic Hyperkeratosis:

# Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma 30 KRT1 KRT10
Sources

Anatomical Context for Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

42
Skin, Breast
Sources

Publications for Epidermolytic Hyperkeratosis

About this section

Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 205)
# Title Authors Year
1
An interesting case of coincidental epidermolytic hyperkeratosis and erythema annulare centrifugum in the setting of latent tuberculosis in a 12-year-old female. ( 30623423 )
2019
2
Late-Onset Nevus Comedonicus With Follicular Epidermolytic Hyperkeratosis-Case Report and Review of the Literature. ( 30461425 )
2019
3
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families. ( 29935003 )
2019
4
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis. ( 30859768 )
2018
5
Extramammary Paget disease with histologic presence of epidermolytic hyperkeratosis: An unusual presentation. ( 29536968 )
2018
6
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. ( 27520397 )
2017
7
Incidental focal epidermolytic hyperkeratosis in rosacea. ( 27401945 )
2017
8
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
9
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. ( 26373619 )
2016
10
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. ( 25751346 )
2015
11
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. ( 26790514 )
2015
12
Epidermolytic Hyperkeratosis--case report. ( 26734873 )
2015
13
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. ( 25436919 )
2015
14
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction. ( 26370990 )
2015
15
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. ( 26379388 )
2015
16
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. ( 24320759 )
2014
17
Systematized linear epidermolytic hyperkeratosis. ( 24456951 )
2014
18
Grover disease with features of epidermolytic hyperkeratosis. ( 23435360 )
2014
19
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
20
Non-bullous congenital ichthyosiform erythroderma. ( 25129016 )
2014
21
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. ( 23182068 )
2013
22
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. ( 23623204 )
2013
23
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. ( 22938157 )
2013
24
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). ( 22250628 )
2012
25
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. ( 21463361 )
2012
26
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. ( 22068776 )
2011
27
Seborrheic keratosis in a young patient with non-bullous congenital ichthyosiform erythroderma. ( 21700545 )
2011
28
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. ( 21352327 )
2011
29
Bullous congenital ichthyosiform erythroderma. ( 22253153 )
2011
30
Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. ( 21838083 )
2011
31
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. ( 21773039 )
2011
32
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. ( 21772595 )
2011
33
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. ( 21496707 )
2011
34
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. ( 20302579 )
2010
35
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. ( 20632830 )
2010
36
Two cases of linear epidermolytic hyperkeratosis: therapeutic challenge with acitretin. ( 20388608 )
2010
37
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. ( 19262603 )
2009
38
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. ( 19635120 )
2009
39
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. ( 19689541 )
2009
40
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. ( 18435726 )
2009
41
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. ( 20102018 )
2009
42
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. ( 19474805 )
2009
43
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. ( 19443303 )
2009
44
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. ( 19200214 )
2009
45
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. ( 19930990 )
2009
46
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. ( 18219278 )
2008
47
A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue. ( 18498407 )
2008
48
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. ( 18429807 )
2008
49
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. ( 19112765 )
2008
50
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. ( 18571597 )
2008
Sources

Variations for Epidermolytic Hyperkeratosis

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

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

ClinVar genetic disease variations for Epidermolytic Hyperkeratosis:

6 (show top 50) (show all 105)
# 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 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh37 Chromosome 17, 38975842: 38975842
23 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh38 Chromosome 17, 40819590: 40819590
24 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh37 Chromosome 17, 38975861: 38975861
25 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh38 Chromosome 17, 40819609: 40819609
26 KRT10 KRT10, 1-BP INS, 1325C insertion Pathogenic
27 KRT10 NM_000421.3(KRT10): c.1155+5G> A single nucleotide variant Pathogenic rs267607381 GRCh37 Chromosome 17, 38976296: 38976296
28 KRT10 NM_000421.3(KRT10): c.1155+5G> A single nucleotide variant Pathogenic rs267607381 GRCh38 Chromosome 17, 40820044: 40820044
29 KRT1 NM_006121.3(KRT1): c.1360G> T (p.Ala454Ser) single nucleotide variant Likely benign rs17678945 GRCh37 Chromosome 12, 53070174: 53070174
30 KRT1 NM_006121.3(KRT1): c.1360G> T (p.Ala454Ser) single nucleotide variant Likely benign rs17678945 GRCh38 Chromosome 12, 52676390: 52676390
31 KRT1 NM_006121.3(KRT1): c.1389C> T (p.Arg463=) single nucleotide variant Benign rs936958 GRCh37 Chromosome 12, 53070145: 53070145
32 KRT1 NM_006121.3(KRT1): c.1389C> T (p.Arg463=) single nucleotide variant Benign rs936958 GRCh38 Chromosome 12, 52676361: 52676361
33 KRT1 NM_006121.3(KRT1): c.623T> C (p.Leu208Pro) single nucleotide variant Pathogenic rs61616632 GRCh37 Chromosome 12, 53072509: 53072509
34 KRT1 NM_006121.3(KRT1): c.623T> C (p.Leu208Pro) single nucleotide variant Pathogenic rs61616632 GRCh38 Chromosome 12, 52678725: 52678725
35 KRT1 NM_006121.3(KRT1): c.75C> T (p.Ile25=) single nucleotide variant Likely benign rs828367 GRCh37 Chromosome 12, 53074058: 53074058
36 KRT1 NM_006121.3(KRT1): c.75C> T (p.Ile25=) single nucleotide variant Likely benign rs828367 GRCh38 Chromosome 12, 52680274: 52680274
37 KRT1 NM_006121.3(KRT1): c.762G> A (p.Ser254=) single nucleotide variant Likely benign rs2741155 GRCh38 Chromosome 12, 52678586: 52678586
38 KRT1 NM_006121.3(KRT1): c.762G> A (p.Ser254=) single nucleotide variant Likely benign rs2741155 GRCh37 Chromosome 12, 53072370: 53072370
39 KRT1 NM_006121.3(KRT1): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance rs886049636 GRCh38 Chromosome 12, 52679975: 52679975
40 KRT1 NM_006121.3(KRT1): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance rs886049636 GRCh37 Chromosome 12, 53073759: 53073759
41 KRT1 NM_006121.3(KRT1): c.302G> T (p.Gly101Val) single nucleotide variant Uncertain significance rs147840212 GRCh38 Chromosome 12, 52680047: 52680047
42 KRT1 NM_006121.3(KRT1): c.302G> T (p.Gly101Val) single nucleotide variant Uncertain significance rs147840212 GRCh37 Chromosome 12, 53073831: 53073831
43 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh38 Chromosome 3, 48591738: 48591738
44 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh37 Chromosome 3, 48629171: 48629171
45 KRT1 NM_006121.3(KRT1): c.*275G> A single nucleotide variant Uncertain significance rs886049634 GRCh38 Chromosome 12, 52674918: 52674918
46 KRT1 NM_006121.3(KRT1): c.*275G> A single nucleotide variant Uncertain significance rs886049634 GRCh37 Chromosome 12, 53068702: 53068702
47 KRT1 NM_006121.3(KRT1): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs34787940 GRCh37 Chromosome 12, 53074020: 53074020
48 KRT1 NM_006121.3(KRT1): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs34787940 GRCh38 Chromosome 12, 52680236: 52680236
49 KRT1 NM_006121.3(KRT1): c.257G> A (p.Arg86His) single nucleotide variant Uncertain significance rs886049637 GRCh37 Chromosome 12, 53073876: 53073876
50 KRT1 NM_006121.3(KRT1): c.257G> A (p.Arg86His) single nucleotide variant Uncertain significance rs886049637 GRCh38 Chromosome 12, 52680092: 52680092
Sources

Expression for Epidermolytic Hyperkeratosis

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Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.
Sources

Pathways for Epidermolytic Hyperkeratosis

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

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 67
Show member pathways
 12.87 FLG KRT1 KRT10 KRT16 KRT17 KRT2
2
Circadian entrainment 38
Show member pathways
 12.43 KRT10 KRT16 KRT17 KRT9
3
Cytoskeletal Signaling 4
11.99 KRT10 KRT17 KRT5
4
Keratinization 67
Show member pathways
 11.78 FLG KRT1 KRT10 KRT16 KRT17 KRT2
5
Cytoskeleton remodeling Neurofilaments 23
Show member pathways
 11.59 KRT1 KRT16 KRT17 KRT2 KRT5
Sources

GO Terms for Epidermolytic Hyperkeratosis

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.85 FLG KRT1 KRT10 KRT16 KRT17 KRT2
2 extracellular exosome GO:0070062 9.8 KRT1 KRT10 KRT16 KRT17 KRT2 KRT5
3 keratin filament GO:0045095 9.5 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.73 KRT16 KRT17 KRT5 LOR
2 epidermis development GO:0008544 9.72 KRT16 KRT17 KRT2 KRT5 KRT9
3 keratinocyte differentiation GO:0030216 9.67 FLG KRT10 KRT16 LOR
4 cornification GO:0070268 9.65 FLG KRT1 KRT10 KRT16 KRT17 KRT2
5 establishment of skin barrier GO:0061436 9.58 FLG KRT1 KRT16
6 intermediate filament organization GO:0045109 9.56 KRT17 KRT2 KRT9 TCHH
7 peptide cross-linking GO:0018149 9.55 FLG KRT1 KRT10 KRT2 LOR
8 protein heterotetramerization GO:0051290 9.49 KRT1 KRT10
9 keratinocyte migration GO:0051546 9.48 KRT16 KRT2
10 positive regulation of epidermis development GO:0045684 9.46 KRT10 KRT2
11 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

Sources for Epidermolytic Hyperkeratosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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