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EHK
MCID: EPD002
MIFTS: 60

Epidermolytic Hyperkeratosis (EHK)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Epidermolytic Hyperkeratosis

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MalaCards integrated aliases for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 57 11 19 42 75 73 12 14 38
Bullous Congenital Ichthyosiform Erythroderma 57 11 19 42 73 53 14
Bullous Ichthyosiform Erythroderma 57 11 19 42 73 28 5
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 57 19 42 73
Bcie 57 19 42 73
Ehk 57 19 42 73
Superficial Epidermolytic Ichthyosis 11 58 5
Ichthyosis Bullosa of Siemens 11 58 43
Hyperkeratosis, Epidermolytic 42 43 71
Epidermolytic Ichthyosis 57 19 42
Bie 57 42 73
Congenital Bullous Ichthyosiform Erythroderma 19 31
Bullous Ichthyosiform Erythroderma Congenita 19
Epidermolytic Palmoplantar Hyperkeratosis 11
Epidermolytic Hyperkeratosis, Late-Onset 5
Epidermolytic Hyperkeratosis Late-Onset 73
Bullous Erythroderma Ichthyosiforme 42
Bullous Type Ichthyosis 11
Sei 58

Characteristics:


Inheritance:

Epidermolytic Hyperkeratosis: Autosomal dominant 57
Superficial Epidermolytic Ichthyosis: Autosomal dominant 58

Prevelance:

Superficial Epidermolytic Ichthyosis: <1/1000000 (Worldwide) 58

Age Of Onset:

Superficial Epidermolytic Ichthyosis: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
homozygous mutations in krt10 (e.g., ) have been reported in some ehk families


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0060877 DOID:4603
OMIM® 57 113800
SNOMED-CT 68 20512000 254169002
ICD10 31 Q80.3
MESH via Orphanet 44 D053560
ICD10 via Orphanet 32 Q80.8
UMLS via Orphanet 72 C0432306
Orphanet 58 ORPHA455
UMLS 71 C0079153 C0432306
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Summaries for Epidermolytic Hyperkeratosis

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MedlinePlus Genetics: 42 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).As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.

MalaCards based summary: Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to ichthyosis, annular epidermolytic, 1 and autosomal dominant epidermolytic ichthyosis, and has symptoms including scaly skin An important gene associated with Epidermolytic Hyperkeratosis is KRT1 (Keratin 1), and among its related pathways/superpathways are Nervous system development and COPI-independent Golgi-to-ER retrograde traffic. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, small intestine and breast, and related phenotypes are ichthyosis and palmoplantar keratoderma

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) (Updated 08-Dec-2022)

GARD: 19 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. 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 in the KRT1 or KRT10 genes. About half of cases are due to new genetic changes 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.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.

Wikipedia: 75 Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic... more...
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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 298)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, annular epidermolytic, 1 32.9 KRT10-AS1 KRT10 KRT1
2 autosomal dominant epidermolytic ichthyosis 32.9 KRT10 KRT1
3 ichthyosis, congenital, autosomal recessive 4a 32.5 TGM1 NIPAL4 LORICRIN KRT14 ABCA12
4 ichthyosis bullosa of siemens 32.4 KRT2 KRT10 KRT1
5 nevus, epidermal 32.2 KRT2 KRT10 KRT1 IVL COL7A1
6 ichthyosis, congenital, autosomal recessive 4b 32.0 TGM1 NIPAL4 LORICRIN KRT10 KRT1 IVL
7 palmoplantar keratoderma, epidermolytic 31.9 KRT9 KRT86 KRT6B KRT6A KRT5 KRT2
8 palmoplantar keratosis 31.0 LORICRIN KRT9 KRT6B KRT6A KRT5 KRT17
9 peeling skin syndrome 30.8 TGM1 LORICRIN FLG
10 keratosis, seborrheic 30.8 KRT5 KRT17 KRT10 IVL
11 ichthyosis hystrix, curth-macklin type 30.7 KRT5 KRT1
12 acanthoma 30.7 KRT5 KRT10 KRT1
13 epidermolysis bullosa 30.6 LORICRIN KRT5 KRT17 KRT16 KRT14 KRT10
14 dermatitis 30.6 LORICRIN KRT16 IVL FLG
15 alopecia 30.5 KRT86 KRT14 FLG
16 basal cell carcinoma 30.5 KRT5 KRT17 KRT16 KRT14 KRT10 KRT1
17 erythrokeratodermia variabilis et progressiva 1 30.5 TGM1 NIPAL4 LORICRIN KRT10 KRT1 ABCA12
18 epidermolytic acanthoma 30.5 KRT9 KRT2 KRT10-AS1 KRT10 KRT1
19 ichthyosis, congenital, autosomal recessive 1 30.5 TGM1 NIPAL4 ABCA12
20 ichthyosis 30.5 TGM1 NIPAL4 LORICRIN KRT86 KRT5 KRT2
21 palmoplantar keratoderma, nonepidermolytic 30.4 KRT9 KRT6A KRT17 KRT16 KRT1
22 autosomal recessive congenital ichthyosis 30.4 TGM1 NIPAL4 LORICRIN KRT6B KRT6A KRT2
23 epidermolysis bullosa dystrophica 30.4 KRT9 KRT5 KRT14 KRT1 IVL FLG
24 skin disease 30.4 TGM1 LORICRIN KRT9 KRT6A KRT5 KRT17
25 leukoplakia 30.4 KRT1 FLG
26 lichen planus 30.4 KRT16 KRT10 KRT1 IVL FLG
27 ichthyosis, x-linked 30.3 TGM1 NIPAL4 KRT2 KRT1 IVL FLG
28 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 30.3 NIPAL4 ABCA12
29 papilloma 30.3 KRT5 KRT14 KRT10 KRT1 IVL FLG
30 white sponge nevus 1 30.2 KRT86 KRT6B KRT6A KRT2 KRT14 KRT1
31 epidermolysis bullosa simplex 30.2 LORICRIN KRT9 KRT6B KRT6A KRT5 KRT2
32 ichthyosis vulgaris 30.1 TGM1 NIPAL4 LORICRIN KRT14 KRT10 KRT1
33 keratosis 30.0 TGM1 LORICRIN KRT9 KRT86 KRT5 KRT17
34 psoriasis 30.0 TGM1 LORICRIN KRT5 KRT17 KRT16 KRT14
35 ichthyosis, congenital, autosomal recessive 2 11.8
36 ichthyosis, congenital, autosomal recessive 3 11.5
37 chanarin-dorfman syndrome 11.5
38 ichthyosis, congenital, autosomal recessive 11 11.5
39 ichthyosis, congenital, autosomal recessive 5 11.5
40 ichthyosis, congenital, autosomal recessive 6 11.5
41 ichthyosis, congenital, autosomal recessive 8 11.5
42 ichthyosis, congenital, autosomal recessive 9 11.5
43 ichthyosis, congenital, autosomal recessive 10 11.5
44 ichthyosis, congenital, autosomal recessive 12 11.5
45 ichthyosis, congenital, autosomal recessive 14 11.5
46 ichthyosis, congenital, autosomal recessive 13 11.5
47 epidermolytic nevus 11.5
48 keratinopathic ichthyosis 11.3
49 autosomal recessive epidermolytic ichthyosis 11.2
50 peeling skin syndrome 4 11.1

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



Diseases related to Epidermolytic Hyperkeratosis
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Symptoms & Phenotypes for Epidermolytic Hyperkeratosis

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Human phenotypes related to Epidermolytic Hyperkeratosis:

58 30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008064
2 palmoplantar keratoderma 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000982
3 abnormal blistering of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008066
4 edema 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000969
5 acantholysis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100792
6 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000963
7 erythema 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010783
8 erythroderma 30 HP:0001019
9 palmoplantar hyperkeratosis 30 HP:0000972
10 epidermal acanthosis 30 HP:0025092
11 scaling skin 30 HP:0040189
12 congenital bullous ichthyosiform erythroderma 30 HP:0007475

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

UMLS symptoms related to Epidermolytic Hyperkeratosis:


scaly skin

MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ABCA12 COL7A1 IVL KRT1 KRT10 KRT14
2 craniofacial MP:0005382 9.85 ABCA12 COL7A1 KRT10 KRT14 KRT16 KRT17
3 digestive/alimentary MP:0005381 9.8 COL7A1 KRT14 KRT16 KRT17 KRT5 KRT6A
4 mortality/aging MP:0010768 9.8 ABCA12 COL7A1 KRT1 KRT10 KRT14 KRT16
5 pigmentation MP:0001186 9.77 KRT1 KRT14 KRT17 KRT2 KRT9
6 integument MP:0010771 9.55 ABCA12 COL7A1 KRT1 KRT10 KRT14 KRT16
Sources

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 2
2 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses Completed NCT03041038 Phase 2 Secukinumab;Placebo
2 Research Registry for Inherited Disorders of Keratinization Completed NCT00074685
3 Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis Not yet recruiting NCT05312073

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


carbamide peroxide
eucerin
EUCERITE
Urea
UREA POWDER

Cochrane evidence based reviews: ichthyosis bullosa of siemens

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Genetic Tests for Epidermolytic Hyperkeratosis

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Genetic tests related to Epidermolytic Hyperkeratosis:

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

Anatomical Context for Epidermolytic Hyperkeratosis

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Organs/tissues related to Epidermolytic Hyperkeratosis:

MalaCards : Skin, Small Intestine, Breast, Heart, Liver, Bone
ODiseA: Skin
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Publications for Epidermolytic Hyperkeratosis

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Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 639)
# Title Authors PMID Year
1
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. 62 57 5
20302579 2010
2
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. 62 57 5
19474805 2009
3
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. 62 57 5
16505000 2006
4
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. 62 57 5
12648226 2003
5
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. 62 57 5
11559215 2001
6
Genetic and clinical mosaicism in a type of epidermal nevus. 62 57 5
7526210 1994
7
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 62 57 5
7512983 1994
8
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. 62 57 5
1381288 1992
9
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 62 57 5
1380725 1992
10
Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form. 62 57 5
2182100 1990
11
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. 53 62 57
18219278 2008
12
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 53 62 5
11531804 2001
13
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. 53 62 5
8077693 1994
14
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis. 62 5
33363884 2020
15
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. 62 5
26581228 2016
16
Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. 62 5
12406348 2002
17
A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 62 5
10620137 2000
18
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. 62 5
10233323 1999
19
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. 62 5
9804344 1998
20
A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens. 62 5
9204966 1997
21
Ichthyosis bullosa of Siemens--a disease involving keratin 2e. 62 5
7521371 1994
22
Clinical heterogeneity in epidermolytic hyperkeratosis. 62 57
8053700 1994
23
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. 62 5
7524919 1994
24
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. 62 5
7508181 1994
25
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. 62 5
7509230 1993
26
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. 62 57
7682695 1993
27
Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12. 62 57
1385543 1992
28
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. 62 57
1381287 1992
29
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. 62 57
1284546 1992
30
[Keratoses with granular degeneration and their relations to each other. II. Heterophenotypic expression of hyperkeratosis (erythrodermia congenitalis ichthyosiformis bullosa), naevus hystricoides and Vörner keratosis palmoplantaris cum degeneratione granulosa]. 62 57
2529147 1989
31
Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells. 62 57
3512829 1986
32
Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. 62 57
6345689 1983
33
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. 62 57
6985700 1980
34
Dominant traits may give rise to paired patches of either excessive or absent involvement. 57
10323747 1999
35
A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. 57
9420534 1997
36
Epidermal disease: faulty keratin filaments take their toll. 5
7511022 1994
37
Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. 5
1380918 1992
38
Congenital ichthyosiform erythroderma and epidermal nevus. 57
2050459 1991
39
Autosomal dominant ichthyosis exfoliativa. 5
2004005 1991
40
Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. 57
7037606 1981
41
Electron microscopy in the early diagnosis of genetic disorders of the skin. 57
78862 1978
42
The ichthyoses. 57
935508 1976
43
[Bullous "congenital ichythyosiform erythroderma" in 2 generation]. 57
13906035 1962
44
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis. 53 62
20500210 2010
45
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. 53 62
19689541 2009
46
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. 53 62
17596149 2007
47
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. 53 62
16361731 2005
48
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. 53 62
15214894 2004
49
Disorders of keratinization: diagnosis and management. 53 62
14979740 2004
50
Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis. 53 62
14705805 2003
Sources

Variations for Epidermolytic Hyperkeratosis

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ClinVar genetic disease variations for Epidermolytic Hyperkeratosis:

5 (show top 50) (show all 146)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT2 NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) SNV Pathogenic
 9309 rs137852628 GRCh37: 12:53040532-53040532
GRCh38: 12:52646748-52646748
2 KRT2 NM_000423.3(KRT2):c.542A>C (p.Gln181Pro) SNV Pathogenic
 9311 rs57510142 GRCh37: 12:53045385-53045385
GRCh38: 12:52651601-52651601
3 KRT2 NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro) SNV Pathogenic
 9312 rs137852630 GRCh37: 12:53040558-53040558
GRCh38: 12:52646774-52646774
4 KRT2 NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr) SNV Pathogenic
 9313 rs137852631 GRCh37: 12:53045371-53045371
GRCh38: 12:52651587-52651587
5 KRT2 NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) SNV Pathogenic
 9314 rs56829062 GRCh37: 12:53040567-53040567
GRCh38: 12:52646783-52646783
6 KRT2 NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) SNV Pathogenic
 9315 rs137852631 GRCh37: 12:53045371-53045371
GRCh38: 12:52651587-52651587
7 KRT2 NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) SNV Pathogenic
 9316 rs137852632 GRCh37: 12:53045369-53045369
GRCh38: 12:52651585-52651585
8 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.482T>C (p.Leu161Ser) SNV Pathogenic
 14569 rs60118264 GRCh37: 17:38978356-38978356
GRCh38: 17:40822104-40822104
9 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.460A>C (p.Asn154His) SNV Pathogenic
 14571 rs57784225 GRCh37: 17:38978378-38978378
GRCh38: 17:40822126-40822126
10 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp) SNV Pathogenic
 14572 rs58414354 GRCh37: 17:38978360-38978360
GRCh38: 17:40822108-40822108
11 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln) SNV Pathogenic
 14575 rs58026994 GRCh37: 17:38975817-38975817
GRCh38: 17:40819565-40819565
12 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.449T>G (p.Met150Arg) SNV Pathogenic
 14577 rs58901407 GRCh37: 17:38978389-38978389
GRCh38: 17:40822137-40822137
13 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu) SNV Pathogenic
 14578 rs61434181 GRCh37: 17:38975827-38975827
GRCh38: 17:40819575-40819575
14 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.449T>C (p.Met150Thr) SNV Pathogenic
 14579 rs58901407 GRCh37: 17:38978389-38978389
GRCh38: 17:40822137-40822137
15 KRT1 NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) SNV Pathogenic
 15907 rs137853224 GRCh37: 12:53071466-53071466
GRCh38: 12:52677682-52677682
16 KRT1 NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) SNV Pathogenic
 15909 rs58420087 GRCh37: 12:53070089-53070089
GRCh38: 12:52676305-52676305
17 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter) SNV Pathogenic
 29764 rs60035576 GRCh37: 17:38975842-38975842
GRCh38: 17:40819590-40819590
18 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1281C>A (p.Cys427Ter) SNV Pathogenic
 29765 rs387906640 GRCh37: 17:38975861-38975861
GRCh38: 17:40819609-40819609
19 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1155+5G>A SNV Pathogenic
 66159 rs267607381 GRCh37: 17:38976296-38976296
GRCh38: 17:40820044-40820044
20 KRT1 NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) SNV Pathogenic
 66659 rs61616632 GRCh37: 12:53072509-53072509
GRCh38: 12:52678725-52678725
21 KRT2 NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) SNV Pathogenic
 9310 rs137852629 GRCh37: 12:53040534-53040534
GRCh38: 12:52646750-52646750
22 KRT1 NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) SNV Pathogenic
 1698955 GRCh37: 12:53070101-53070101
GRCh38: 12:52676317-52676317
23 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) SNV Pathogenic
Pathogenic
 14576 rs58852768 GRCh37: 17:38978372-38978372
GRCh38: 17:40822120-40822120
24 KRT1 NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) SNV Pathogenic
 15908 rs57695159 GRCh37: 12:53073651-53073651
GRCh38: 12:52679867-52679867
25 KRT1 NM_006121.4(KRT1):c.464T>A (p.Val155Asp) SNV Pathogenic
 15913 rs57959072 GRCh37: 12:53073669-53073669
GRCh38: 12:52679885-52679885
26 KRT1 NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) SNV Pathogenic
 15914 rs59429455 GRCh37: 12:53073569-53073569
GRCh38: 12:52679785-52679785
27 KRT1 NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) SNV Pathogenic
 15915 rs137853225 GRCh37: 12:53070110-53070110
GRCh38: 12:52676326-52676326
28 KRT1 NM_006121.4(KRT1):c.1757dup (p.Tyr587fs) DUP Pathogenic
 15921 GRCh37: 12:53069154-53069155
GRCh38: 12:52675370-52675371
29 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.467G>A (p.Arg156His) SNV Pathogenic
 14573 rs58075662 GRCh37: 17:38978371-38978371
GRCh38: 17:40822119-40822119
30 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs) INSERT Pathogenic
 66161 rs267607379 GRCh37: 17:38975827-38975828
GRCh38: 17:40819575-40819576
31 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.467G>T (p.Arg156Leu) SNV Pathogenic
 66176 rs58075662 GRCh37: 17:38978371-38978371
GRCh38: 17:40822119-40822119
32 KRT1 NM_006121.4(KRT1):c.563A>T (p.Asn188Ile) SNV Likely Pathogenic
 1339265 GRCh37: 12:53073570-53073570
GRCh38: 12:52679786-52679786
33 COL7A1 NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) SNV Likely Pathogenic
 373954 rs147040026 GRCh37: 3:48629171-48629171
GRCh38: 3:48591738-48591738
34 KRT2 NM_000423.3(KRT2):c.1051G>A (p.Glu351Lys) SNV Uncertain Significance
 309610 rs751634621 GRCh37: 12:53042028-53042028
GRCh38: 12:52648244-52648244
35 KRT2 NM_000423.3(KRT2):c.52G>A (p.Gly18Arg) SNV Uncertain Significance
 309630 rs779454673 GRCh37: 12:53045875-53045875
GRCh38: 12:52652091-52652091
36 KRT2 NM_000423.3(KRT2):c.*248C>T SNV Uncertain Significance
 309590 rs539170994 GRCh37: 12:53038555-53038555
GRCh38: 12:52644771-52644771
37 KRT2 NM_000423.3(KRT2):c.*301G>A SNV Uncertain Significance
 309586 rs886049628 GRCh37: 12:53038502-53038502
GRCh38: 12:52644718-52644718
38 KRT2 NM_000423.3(KRT2):c.864C>T (p.Asp288=) SNV Uncertain Significance
 309612 rs765620105 GRCh37: 12:53042884-53042884
GRCh38: 12:52649100-52649100
39 KRT2 NM_000423.3(KRT2):c.1829G>T (p.Gly610Val) SNV Uncertain Significance
 309595 rs886049630 GRCh37: 12:53038894-53038894
GRCh38: 12:52645110-52645110
40 KRT2 NM_000423.3(KRT2):c.*263C>T SNV Uncertain Significance
 883312 rs1189980977 GRCh37: 12:53038540-53038540
GRCh38: 12:52644756-52644756
41 KRT2 NM_000423.3(KRT2):c.*125T>G SNV Uncertain Significance
 883313 rs1941137697 GRCh37: 12:53038678-53038678
GRCh38: 12:52644894-52644894
42 KRT2 NM_000423.3(KRT2):c.800+9C>G SNV Uncertain Significance
 883364 rs1242347501 GRCh37: 12:53044114-53044114
GRCh38: 12:52650330-52650330
43 KRT2 NM_000423.3(KRT2):c.346G>C (p.Gly116Arg) SNV Uncertain Significance
 881005 rs1941253363 GRCh37: 12:53045581-53045581
GRCh38: 12:52651797-52651797
44 KRT2 NM_000423.3(KRT2):c.*438A>G SNV Uncertain Significance
 882264 rs1941133709 GRCh37: 12:53038365-53038365
GRCh38: 12:52644581-52644581
45 KRT2 NM_000423.3(KRT2):c.290G>A (p.Gly97Glu) SNV Uncertain Significance
 882362 rs1941256831 GRCh37: 12:53045637-53045637
GRCh38: 12:52651853-52651853
46 KRT2 NM_000423.3(KRT2):c.*346A>T SNV Uncertain Significance
 882527 rs1178289586 GRCh37: 12:53038457-53038457
GRCh38: 12:52644673-52644673
47 KRT2 NM_000423.3(KRT2):c.*324C>T SNV Uncertain Significance
 882528 rs1941135094 GRCh37: 12:53038479-53038479
GRCh38: 12:52644695-52644695
48 KRT2 NM_000423.3(KRT2):c.*322G>C SNV Uncertain Significance
 882529 rs1285903268 GRCh37: 12:53038481-53038481
GRCh38: 12:52644697-52644697
49 KRT2 NM_000423.3(KRT2):c.*302T>C SNV Uncertain Significance
 882530 rs745675085 GRCh37: 12:53038501-53038501
GRCh38: 12:52644717-52644717
50 KRT2 NM_000423.3(KRT2):c.301delinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly) INDEL Uncertain Significance
 309622 rs886049632 GRCh37: 12:53045626-53045626
GRCh38: 12:52651842-52651842

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

73 (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

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
Nervous system development 66
Show member pathways
 13.22 FLG IVL KRT1 KRT10 KRT14 KRT16
2
COPI-independent Golgi-to-ER retrograde traffic 66
Show member pathways
 12.19 KRT6A KRT5 KRT2 KRT17 KRT16 KRT14
3
Cytoskeletal Signaling 3
12.14 KRT6B KRT6A KRT5 KRT17 KRT10
4
Keratinization 66
Show member pathways
 12.06 TGM1 LORICRIN KRT9 KRT86 KRT6B KRT6A
5
Corticotropin-releasing hormone signaling pathway 74
11.5 KRT14 KRT1 IVL
6
Glucocorticoid receptor regulatory network 61
11.38 KRT5 KRT17 KRT14
Sources

GO Terms for Epidermolytic Hyperkeratosis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.55 ABCA12 FLG IVL KRT1 KRT10 KRT14
2 extracellular exosome GO:0070062 10.34 IVL KRT1 KRT10 KRT14 KRT16 KRT2
3 keratin filament GO:0045095 10.2 KRT25 KRT2 KRT17 KRT14 KRT10 KRT1
4 intermediate filament GO:0005882 9.89 KRT9 KRT86 KRT6B KRT6A KRT5 KRT25
5 cornified envelope GO:0001533 9.62 FLG IVL KRT1 KRT10 KRT14 KRT16

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 epithelial cell differentiation GO:0030855 10.13 KRT9 KRT17 KRT16 KRT14 KRT10
2 keratinocyte differentiation GO:0030216 10.13 ABCA12 FLG IVL KRT10 KRT14 KRT16
3 epidermis development GO:0008544 10.1 KRT9 KRT5 KRT2 KRT14 KRT10 COL7A1
4 keratinization GO:0031424 10.03 TGM1 LORICRIN KRT86 KRT6B KRT6A KRT5
5 establishment of skin barrier GO:0061436 10.01 ABCA12 FLG KRT1 KRT16
6 peptide cross-linking GO:0018149 10 TGM1 LORICRIN KRT2 KRT10 KRT1 IVL
7 hair cycle GO:0042633 9.93 KRT25 KRT16 KRT14
8 morphogenesis of an epithelium GO:0002009 9.91 KRT6A KRT17 KRT16 KRT10
9 keratinocyte migration GO:0051546 9.8 KRT2 KRT16
10 positive regulation of epidermis development GO:0045684 9.78 KRT2 KRT10
11 intermediate filament organization GO:0045109 9.66 KRT1 KRT14 KRT16 KRT17 KRT2 KRT25

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 9.86 KRT14 KRT16 KRT2 KRT5 KRT6A KRT6B
2 structural molecule activity GO:0005198 9.81 KRT9 KRT25 KRT17 KRT16 KRT14 KRT10
3 structural constituent of skin epidermis GO:0030280 9.58 LORICRIN KRT86 KRT6B KRT6A KRT5 KRT2
Sources

Sources for Epidermolytic Hyperkeratosis

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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