EHK
MCID: EPD002
MIFTS: 56

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 75 13 15
Bullous Congenital Ichthyosiform Erythroderma 57 12 53 25 75 37 55 15
Bullous Ichthyosiform Erythroderma 57 12 53 25 75 29 6
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 57 53 25 75
Bcie 57 53 25 75
Ehk 57 53 25 75
Hyperkeratosis, Epidermolytic 25 44 73
Epidermolytic Ichthyosis 57 53 25
Bie 57 25 75
Ichthyosis Bullosa of Siemens 12 44
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
Superficial Epidermolytic Ichthyosis 12
Bullous Erythroderma Ichthyosiforme 25
Epidermolytic Hyperkeratosis ) 40
Bullous Type Ichthyosis 12

Characteristics:

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:



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 Ketamine and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and tongue, 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 : 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).

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.

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.

Wikipedia : 76 Epidermolytic ichthyosis (EI), (also known as "epidermolytic hyperkeratosis (EHK)", "bullous congenital... 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 132)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, cyclic, with epidermolytic hyperkeratosis 34.2 KRT10 KRT1
2 palmoplantar keratoderma, epidermolytic 32.7 LOR KRT9 KRT16 KRT10 KRT1 FLG
3 autosomal dominant epidermolytic ichthyosis 32.7 KRT10 KRT1
4 ichthyosis bullosa of siemens 32.5 KRT2 KRT10 KRT1
5 nevus, epidermal 32.3 KRT16 KRT10
6 ichthyosis hystrix, curth-macklin type 31.9 KRT5 KRT1
7 palmoplantar keratoderma, bothnian type 31.6 KRT9 KRT17 KRT16
8 exfoliative ichthyosis 30.5 KRT5 KRT2
9 epidermolysis bullosa simplex 30.5 KRT5 KRT10 KRT1
10 ichthyosis 30.4 LOR KRT5 KRT2 KRT10 KRT1 FLG
11 autosomal recessive congenital ichthyosis 30.4 LOR KRT10 FLG
12 keratosis 30.3 KRT9 KRT10 KRT1 FLG
13 lichen planus 30.2 KRT16 KRT10 FLG
14 palmoplantar keratosis 29.9 LOR KRT9 KRT5 KRT16 KRT1
15 basal cell carcinoma 29.6 TCHH KRT5 KRT17 KRT16 KRT10
16 psoriasis 29.6 LOR KRT17 KRT16 KRT10 FLG
17 skin disease 28.6 LOR KRT9 KRT6A KRT5 KRT17 KRT16
18 autosomal recessive epidermolytic ichthyosis 12.3
19 ichthyosis, congenital, autosomal recessive 2 12.1
20 ichthyosis, congenital, autosomal recessive 1 11.6
21 ichthyosis, congenital, autosomal recessive 4a 11.6
22 ichthyosis, congenital, autosomal recessive 11 11.6
23 ichthyosis, congenital, autosomal recessive 5 11.6
24 ichthyosis, congenital, autosomal recessive 3 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 dominant ichthyosis vulgaris 11.2
35 epidermolytic nevus 11.2
36 peeling skin syndrome 4 11.2
37 recessive dystrophic epidermolysis bullosa-generalized other 11.2
38 ichthyosis hystrix gravior 11.2
39 wilson disease 11.1
40 menkes disease 11.1
41 nevus comedonicus 10.5
42 epidermolysis bullosa 10.3
43 basal cell carcinoma 1 10.2
44 epidermolytic acanthoma 10.2 KRT10 KRT1
45 erythroderma, ichthyosiform, congenital reticular 10.2 KRT10 KRT1
46 noonan syndrome 1 10.2
47 vitamin d-dependent rickets, type 2a 10.2
48 epidermolysis bullosa dystrophica 10.2
49 ocular albinism 10.2
50 open-angle glaucoma 10.2

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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ichthyosis 32 hallmark (90%) HP:0008064
2 palmoplantar keratoderma 32 hallmark (90%) HP:0000982
3 scaling skin 32 HP:0040189
4 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
5 edema 32 hallmark (90%) HP:0000969
6 thin skin 32 hallmark (90%) HP:0000963
7 erythema 32 occasional (7.5%) HP:0010783
8 erythroderma 32 HP:0001019
9 acantholysis 32 hallmark (90%) HP:0100792
10 epidermal acanthosis 32 HP:0025092
11 palmoplantar hyperkeratosis 32 HP:0000972
12 congenital bullous ichthyosiform erythroderma 32 HP:0007475

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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Etomidate Approved Phase 4 33125-97-2 667484 36339
4
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
5 Central Nervous System Depressants Phase 4
6 Anesthetics, Dissociative Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Hypnotics and Sedatives Phase 4
9 Anesthetics Phase 4
10 Excitatory Amino Acids Phase 4
11 Anesthetics, Intravenous Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Neurotransmitter Agents Phase 4
14 Anesthetics, General Phase 4
15 Analgesics Phase 4
16 Immunologic Factors Phase 2
17 Antibodies Phase 2
18 Antibodies, Monoclonal Phase 2
19 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 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 73 / NDF-RT 51 :


Cochrane evidence based reviews: ichthyosis bullosa of siemens

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, Breast, Tongue

Publications for Epidermolytic Hyperkeratosis

Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 203)
# Title Authors Year
1
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families. ( 29935003 )
2018
2
Juvenile Open Angle Glaucoma with Non Bullous Congenital Ichthyosiform Erythroderma. ( 29952820 )
2018
3
Extramammary Paget disease with histologic presence of epidermolytic hyperkeratosis: An unusual presentation. ( 29536968 )
2018
4
Late-Onset Nevus Comedonicus With Follicular Epidermolytic Hyperkeratosis-Case Report and Review of the Literature. ( 30461425 )
2018
5
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. ( 27520397 )
2016
6
Incidental focal epidermolytic hyperkeratosis in rosacea. ( 27401945 )
2016
7
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
8
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
9
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. ( 25751346 )
2015
10
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. ( 26790514 )
2015
11
Epidermolytic Hyperkeratosis--case report. ( 26734873 )
2015
12
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. ( 26379388 )
2015
13
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. ( 26373619 )
2015
14
Non-bullous congenital ichthyosiform erythroderma. ( 25129016 )
2014
15
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. ( 25436919 )
2014
16
Systematized linear epidermolytic hyperkeratosis. ( 24456951 )
2014
17
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
18
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. ( 23623204 )
2013
19
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. ( 22938157 )
2013
20
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. ( 23182068 )
2013
21
Grover Disease With Features of Epidermolytic Hyperkeratosis. ( 23435360 )
2013
22
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. ( 24320759 )
2013
23
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. ( 21463361 )
2012
24
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). ( 22250628 )
2012
25
Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. ( 22257947 )
2012
26
Bullous congenital ichthyosiform erythroderma. ( 22253153 )
2011
27
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. ( 21496707 )
2011
28
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. ( 22068776 )
2011
29
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. ( 21772595 )
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
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. ( 21352327 )
2011
33
Seborrheic keratosis in a young patient with non-bullous congenital ichthyosiform erythroderma. ( 21700545 )
2011
34
Two cases of linear epidermolytic hyperkeratosis: therapeutic challenge with acitretin. ( 20388608 )
2010
35
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. ( 20632830 )
2010
36
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. ( 19930990 )
2009
37
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. ( 19474805 )
2009
38
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. ( 19443303 )
2009
39
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. ( 20102018 )
2009
40
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. ( 19635120 )
2009
41
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. ( 19262603 )
2009
42
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. ( 19689541 )
2009
43
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. ( 18435726 )
2009
44
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. ( 19200214 )
2009
45
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. ( 19112765 )
2008
46
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. ( 18261139 )
2008
47
A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue. ( 18498407 )
2008
48
Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy. ( 18505142 )
2008
49
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. ( 18571597 )
2008
50
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. ( 18429807 )
2008

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 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 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh37 Chromosome 12, 53073669: 53073669
2 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh38 Chromosome 12, 52679885: 52679885
3 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh37 Chromosome 12, 53073569: 53073569
4 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh38 Chromosome 12, 52679785: 52679785
5 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh37 Chromosome 12, 53070110: 53070110
6 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh38 Chromosome 12, 52676326: 52676326
7 KRT1 KRT1, 1-BP INS, 1752G insertion Pathogenic
8 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh37 Chromosome 17, 38975842: 38975842
9 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh38 Chromosome 17, 40819590: 40819590
10 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh37 Chromosome 17, 38975861: 38975861
11 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh38 Chromosome 17, 40819609: 40819609
12 KRT10 KRT10, 1-BP INS, 1325C insertion Pathogenic
13 KRT10 KRT10, IVS5DS, G-A, +5 single nucleotide variant Pathogenic
14 KRT1 NM_006121.3(KRT1): c.302G> T (p.Gly101Val) single nucleotide variant Uncertain significance rs147840212 GRCh37 Chromosome 12, 53073831: 53073831
15 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh38 Chromosome 3, 48591738: 48591738
16 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh37 Chromosome 3, 48629171: 48629171
17 KRT1 NM_006121.3(KRT1): c.-21C> T single nucleotide variant Likely benign rs189087382 GRCh37 Chromosome 12, 53074153: 53074153
18 KRT1 NM_006121.3(KRT1): c.-21C> T single nucleotide variant Likely benign rs189087382 GRCh38 Chromosome 12, 52680369: 52680369
19 KRT1 NM_006121.3(KRT1): c.1898A> G (p.Lys633Arg) single nucleotide variant Benign rs14024 GRCh38 Chromosome 12, 52675230: 52675230
20 KRT1 NM_006121.3(KRT1): c.1898A> G (p.Lys633Arg) single nucleotide variant Benign rs14024 GRCh37 Chromosome 12, 53069014: 53069014
21 KRT1 NM_006121.3(KRT1): c.*95G> A single nucleotide variant Likely benign rs144520865 GRCh38 Chromosome 12, 52675098: 52675098
22 KRT1 NM_006121.3(KRT1): c.*95G> A single nucleotide variant Likely benign rs144520865 GRCh37 Chromosome 12, 53068882: 53068882
23 KRT1 NM_006121.3(KRT1): c.*275G> A single nucleotide variant Uncertain significance rs886049634 GRCh38 Chromosome 12, 52674918: 52674918
24 KRT1 NM_006121.3(KRT1): c.*275G> A single nucleotide variant Uncertain significance rs886049634 GRCh37 Chromosome 12, 53068702: 53068702
25 KRT1 NM_006121.3(KRT1): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs34787940 GRCh37 Chromosome 12, 53074020: 53074020
26 KRT1 NM_006121.3(KRT1): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs34787940 GRCh38 Chromosome 12, 52680236: 52680236
27 KRT1 NM_006121.3(KRT1): c.257G> A (p.Arg86His) single nucleotide variant Uncertain significance rs886049637 GRCh37 Chromosome 12, 53073876: 53073876
28 KRT1 NM_006121.3(KRT1): c.257G> A (p.Arg86His) single nucleotide variant Uncertain significance rs886049637 GRCh38 Chromosome 12, 52680092: 52680092
29 KRT1 NM_006121.3(KRT1): c.477G> C (p.Gln159His) single nucleotide variant Uncertain significance rs886049635 GRCh37 Chromosome 12, 53073656: 53073656
30 KRT1 NM_006121.3(KRT1): c.477G> C (p.Gln159His) single nucleotide variant Uncertain significance rs886049635 GRCh38 Chromosome 12, 52679872: 52679872
31 KRT1 NM_006121.3(KRT1): c.741T> C (p.Ser247=) single nucleotide variant Likely benign rs56895471 GRCh37 Chromosome 12, 53072391: 53072391
32 KRT1 NM_006121.3(KRT1): c.741T> C (p.Ser247=) single nucleotide variant Likely benign rs56895471 GRCh38 Chromosome 12, 52678607: 52678607
33 KRT1 NM_006121.3(KRT1): c.982A> T (p.Thr328Ser) single nucleotide variant Likely benign rs139428176 GRCh37 Chromosome 12, 53071246: 53071246
34 KRT1 NM_006121.3(KRT1): c.982A> T (p.Thr328Ser) single nucleotide variant Likely benign rs139428176 GRCh38 Chromosome 12, 52677462: 52677462
35 KRT1 NM_006121.3(KRT1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs34154891 GRCh38 Chromosome 12, 52675714: 52675714
36 KRT1 NM_006121.3(KRT1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs34154891 GRCh37 Chromosome 12, 53069498: 53069498
37 KRT1 NM_006121.3(KRT1): c.1677C> T (p.Tyr559=) single nucleotide variant Benign rs11170232 GRCh38 Chromosome 12, 52675451: 52675451
38 KRT1 NM_006121.3(KRT1): c.1677C> T (p.Tyr559=) single nucleotide variant Benign rs11170232 GRCh37 Chromosome 12, 53069235: 53069235
39 KRT1 NM_006121.3(KRT1): c.*344C> T single nucleotide variant Benign rs11170231 GRCh38 Chromosome 12, 52674849: 52674849
40 KRT1 NM_006121.3(KRT1): c.*344C> T single nucleotide variant Benign rs11170231 GRCh37 Chromosome 12, 53068633: 53068633
41 KRT1 NM_006121.3(KRT1): c.*372G> A single nucleotide variant Uncertain significance rs886049633 GRCh38 Chromosome 12, 52674821: 52674821
42 KRT1 NM_006121.3(KRT1): c.*372G> A single nucleotide variant Uncertain significance rs886049633 GRCh37 Chromosome 12, 53068605: 53068605
43 KRT1 NM_006121.3(KRT1): c.592-8G> A single nucleotide variant Likely benign rs147622831 GRCh37 Chromosome 12, 53072548: 53072548
44 KRT1 NM_006121.3(KRT1): c.592-8G> A single nucleotide variant Likely benign rs147622831 GRCh38 Chromosome 12, 52678764: 52678764
45 KRT1 NM_006121.3(KRT1): c.1107C> T (p.Ala369=) single nucleotide variant Likely benign rs183980482 GRCh37 Chromosome 12, 53071121: 53071121
46 KRT1 NM_006121.3(KRT1): c.1107C> T (p.Ala369=) single nucleotide variant Likely benign rs183980482 GRCh38 Chromosome 12, 52677337: 52677337
47 KRT1 NM_006121.3(KRT1): c.1527C> T (p.His509=) single nucleotide variant Uncertain significance rs371428130 GRCh38 Chromosome 12, 52675601: 52675601
48 KRT1 NM_006121.3(KRT1): c.1527C> T (p.His509=) single nucleotide variant Uncertain significance rs371428130 GRCh37 Chromosome 12, 53069385: 53069385
49 KRT1 NM_006121.3(KRT1): c.1669A> G (p.Ser557Gly) single nucleotide variant Likely benign rs77846840 GRCh38 Chromosome 12, 52675459: 52675459
50 KRT1 NM_006121.3(KRT1): c.1669A> G (p.Ser557Gly) single nucleotide variant Likely benign rs77846840 GRCh37 Chromosome 12, 53069243: 53069243

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 9.92 KRT1 KRT10 KRT16 KRT17 KRT2 KRT5
2 cytosol GO:0005829 9.9 FLG KRT1 KRT10 KRT16 KRT17 KRT2
3 keratin filament GO:0045095 9.56 KRT1 KRT2 KRT5 KRT6A
4 cornified envelope GO:0001533 9.43 FLG KRT1 KRT10 KRT2 LOR TCHH
5 intermediate filament GO:0005882 9.28 FLG KRT1 KRT10 KRT16 KRT17 KRT2
6 nucleus GO:0005634 10.02 FLG KRT1 KRT10 KRT16 KRT2 KRT5

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.77 KRT16 KRT17 KRT5 KRT6A LOR
2 epidermis development GO:0008544 9.72 KRT16 KRT17 KRT2 KRT5 KRT9
3 keratinocyte differentiation GO:0030216 9.71 FLG KRT10 KRT16 LOR
4 cornification GO:0070268 9.7 FLG KRT1 KRT10 KRT16 KRT17 KRT2
5 establishment of skin barrier GO:0061436 9.61 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 9.51 KRT1 KRT10
9 morphogenesis of an epithelium GO:0002009 9.49 KRT16 KRT6A
10 keratinocyte migration GO:0051546 9.48 KRT16 KRT2
11 positive regulation of epidermis development GO:0045684 9.46 KRT10 KRT2
12 keratinization GO:0031424 9.32 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 molecule activity GO:0005198 9.56 FLG KRT1 KRT10 KRT16 KRT17 KRT2
2 structural constituent of epidermis GO:0030280 9.55 FLG KRT1 KRT10 KRT2 LOR
3 transition metal ion binding GO:0046914 9.26 FLG TCHH
4 structural constituent of cytoskeleton GO:0005200 9.17 KRT16 KRT17 KRT2 KRT5 KRT6A KRT9

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
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