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 56 12 74 52 25 73 13 15 39
Bullous Congenital Ichthyosiform Erythroderma 56 12 52 25 73 36 54 15
Bullous Ichthyosiform Erythroderma 56 12 52 25 73 29 6
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 56 52 25 73
Bcie 56 52 25 73
Ehk 56 52 25 73
Hyperkeratosis, Epidermolytic 25 43 71
Epidermolytic Ichthyosis 56 52 25
Bie 56 25 73
Congenital Bullous Ichthyosiform Erythroderma 52 32
Ichthyosis Bullosa of Siemens 12 43
Bullous Congenital Ichthyosiform Erythroderma; Bcie 56
Bullous Ichthyosiform Erythroderma Congenita 52
Epidermolytic Palmoplantar Hyperkeratosis 12
Epidermolytic Hyperkeratosis, Late-Onset 6
Bullous Ichthyosiform Erythroderma; Bie 56
Epidermolytic Hyperkeratosis Late-Onset 73
Superficial Epidermolytic Ichthyosis 12
Bullous Erythroderma Ichthyosiforme 25
Bullous Type Ichthyosis 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
autosomal recessive (in some families)

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


HPO:

31
epidermolytic hyperkeratosis:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolytic Hyperkeratosis

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). 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, cyclic, with epidermolytic hyperkeratosis and ichthyosis bullosa of siemens, 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 Relaxin signaling pathway. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotypes are ichthyosis and edema

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE have higher risk of developing severe infection, such as sepsis.

UniProtKB/Swiss-Prot : 73 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 : 74 Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic... 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 216)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, cyclic, with epidermolytic hyperkeratosis 35.1 KRT10 KRT1
2 ichthyosis bullosa of siemens 33.4 KRT2 KRT10 KRT1
3 nevus, epidermal 33.1 KRT10 KRT1 IVL
4 autosomal dominant epidermolytic ichthyosis 33.1 KRT10 KRT1
5 ichthyosis, congenital, autosomal recessive 4a 32.9 TGM1 LORICRIN KRT14
6 ichthyosis hystrix, curth-macklin type 32.6 KRT5 KRT1
7 palmoplantar keratoderma, bothnian type 32.3 KRT9 KRT17 KRT16 KRT1
8 ichthyosis, congenital, autosomal recessive 1 32.3 TGM1 PNPLA1 NIPAL4 LORICRIN
9 ichthyosis, congenital, autosomal recessive 4b 31.9 TGM1 PNPLA1 NIPAL4 LORICRIN KRT1 IVL
10 palmoplantar keratoderma, epidermolytic 31.5 TGM1 LORICRIN KRT9 KRT6A KRT5 KRT2
11 keratosis 31.4 TCHH KRT9 KRT5 KRT17 KRT10 KRT1
12 exfoliative ichthyosis 31.3 KRT5 KRT2
13 clear cell acanthoma 31.0 KRT10 IVL
14 acanthoma 30.9 KRT17 KRT10 KRT1
15 keratinopathic ichthyosis 30.9 KRT2 KRT10 KRT1
16 diffuse palmoplantar keratoderma 30.9 KRT9 KRT5 KRT1
17 dermatitis 30.7 LORICRIN KRT16 IVL FLG
18 epidermolysis bullosa simplex, localized 30.7 KRT5 KRT14
19 keratosis, seborrheic 30.7 KRT5 KRT17 KRT10 IVL
20 lichen planus 30.4 KRT16 KRT10 KRT1 IVL FLG
21 erythrokeratoderma 30.4 PNPLA1 LORICRIN IVL FLG
22 erythrokeratodermia variabilis et progressiva 1 30.4 TGM1 NIPAL4 LORICRIN KRT1
23 dermatitis, atopic 30.4 LORICRIN KRT14 IVL FLG
24 leukoplakia 30.3 KRT4 KRT1
25 epidermolytic acanthoma 30.2 TCHH KRT9 KRT2 KRT10 KRT1 IVL
26 ichthyosis, x-linked 30.1 TGM1 PNPLA1 NIPAL4 FLG
27 epidermolysis bullosa 30.1 LORICRIN KRT5 KRT17 KRT16 KRT14 KRT10
28 papilloma 30.1 KRT5 KRT14 KRT10 KRT1 IVL FLG
29 epidermolysis bullosa simplex 30.0 LORICRIN KRT5 KRT17 KRT16 KRT14 KRT10
30 basal cell carcinoma 30.0 TCHH KRT5 KRT17 KRT16 KRT14 KRT10
31 palmoplantar keratosis 29.4 NIPAL4 LORICRIN KRT9 KRT6B KRT6A KRT5
32 ichthyosis vulgaris 29.3 TGM1 NIPAL4 LORICRIN KRT14 KRT10 KRT1
33 white sponge nevus 1 29.3 KRT6B KRT6A KRT4 KRT2 KRT14 KRT10
34 psoriasis 29.0 TGM1 LORICRIN KRT5 KRT17 KRT16 KRT14
35 ichthyosis 28.7 TGM1 PNPLA1 NIPAL4 LORICRIN KRT5 KRT4
36 skin disease 28.7 TGM1 TCHH SPRR1B LORICRIN KRT9 KRT6A
37 autosomal recessive congenital ichthyosis 27.0 TGM1 TCHH PNPLA1 NIPAL4 LORICRIN KRT6B
38 autosomal recessive epidermolytic ichthyosis 12.5
39 ichthyosis, congenital, autosomal recessive 2 12.5
40 ichthyosis, congenital, autosomal recessive 3 12.0
41 chanarin-dorfman syndrome 11.8
42 ichthyosis, congenital, autosomal recessive 11 11.7
43 ichthyosis, congenital, autosomal recessive 5 11.7
44 ichthyosis, congenital, autosomal recessive 6 11.7
45 ichthyosis, congenital, autosomal recessive 8 11.7
46 ichthyosis, congenital, autosomal recessive 9 11.7
47 ichthyosis, congenital, autosomal recessive 10 11.7
48 ichthyosis, congenital, autosomal recessive 12 11.7
49 ichthyosis, congenital, autosomal recessive 14 11.7
50 ichthyosis, congenital, autosomal recessive 13 11.7

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



Diseases related to Epidermolytic Hyperkeratosis

Symptoms & Phenotypes for Epidermolytic Hyperkeratosis

Human phenotypes related to Epidermolytic Hyperkeratosis:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ichthyosis 31 hallmark (90%) HP:0008064
2 edema 31 hallmark (90%) HP:0000969
3 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
4 palmoplantar keratoderma 31 hallmark (90%) HP:0000982
5 acantholysis 31 hallmark (90%) HP:0100792
6 thin skin 31 hallmark (90%) HP:0000963
7 erythema 31 occasional (7.5%) HP:0010783
8 erythroderma 31 HP:0001019
9 palmoplantar hyperkeratosis 31 HP:0000972
10 epidermal acanthosis 31 HP:0025092
11 scaling skin 31 HP:0040189
12 congenital bullous ichthyosiform erythroderma 31 HP:0007475

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 KRT14 KRT16 KRT17 KRT4 KRT5 KRT6B
2 integument MP:0010771 9.36 KRT1 KRT14 KRT16 KRT17 KRT25 KRT4

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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 Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
2 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685

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

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:

40
Skin, Breast, Testes, Heart, Small Intestine, Liver

Publications for Epidermolytic Hyperkeratosis

Articles related to Epidermolytic Hyperkeratosis:

(show top 50) (show all 447)
# Title Authors PMID Year
1
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. 6 56 54 61
18219278 2008
2
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. 6 56 61
20302579 2010
3
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. 61 56 6
19474805 2009
4
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. 6 56 61
16505000 2006
5
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. 61 56 6
12648226 2003
6
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. 61 56 6
11559215 2001
7
Genetic and clinical mosaicism in a type of epidermal nevus. 61 56 6
7526210 1994
8
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 61 6 56
7512983 1994
9
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. 6 56 61
1381287 1992
10
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. 56 6 61
1381288 1992
11
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 61 56 6
1380725 1992
12
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. 56 61 6
1284546 1992
13
Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form. 6 56 61
2182100 1990
14
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 54 61 6
11531804 2001
15
Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. 61 6
12406348 2002
16
Clinical heterogeneity in epidermolytic hyperkeratosis. 61 56
8053700 1994
17
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. 61 6
7508181 1994
18
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. 61 6
7509230 1993
19
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. 61 56
7682695 1993
20
Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12. 61 56
1385543 1992
21
[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]. 61 56
2529147 1989
22
Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. 56 61
6345689 1983
23
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. 61 56
6985700 1980
24
Dominant traits may give rise to paired patches of either excessive or absent involvement. 56
10323747 1999
25
A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. 56
9420534 1997
26
Congenital ichthyosiform erythroderma and epidermal nevus. 56
2050459 1991
27
Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells. 56
3512829 1986
28
Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. 56
7037606 1981
29
Electron microscopy in the early diagnosis of genetic disorders of the skin. 56
78862 1978
30
The ichthyoses. 56
935508 1976
31
[Bullous "congenital ichythyosiform erythroderma" in 2 generation]. 56
13906035 1962
32
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis. 54 61
20500210 2010
33
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. 54 61
19689541 2009
34
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. 61 54
17596149 2007
35
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. 61 54
16361731 2005
36
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. 54 61
15214894 2004
37
Disorders of keratinization: diagnosis and management. 61 54
14979740 2004
38
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. 54 61
14705805 2003
39
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. 54 61
12406346 2002
40
Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination. 54 61
11841545 2002
41
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. 61 54
11286630 2001
42
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. 61 54
11204523 2000
43
Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. 61 54
10903910 2000
44
Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. 54 61
10844506 2000
45
The pathogenesis of severe congenital ichthyosis of the neonate. 61 54
10511478 1999
46
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. 54 61
10232402 1999
47
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. 54 61
9856846 1998
48
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 61 54
9856845 1998
49
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. 54 61
9742571 1998
50
Epidermolytic acanthomas: clinical characteristics and immunohistochemical features. 61 54
9185908 1997

Variations for Epidermolytic Hyperkeratosis

ClinVar genetic disease variations for Epidermolytic Hyperkeratosis:

6 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT10 KRT10, ARG10HISSNV Pathogenic 14568
2 KRT10 NM_000421.4(KRT10):c.482T>C (p.Leu161Ser)SNV Pathogenic 14569 rs60118264 17:38978356-38978356 17:40822104-40822104
3 KRT10 KRT10, ARG10LEUundetermined variant Pathogenic 14570
4 KRT10 NM_000421.4(KRT10):c.460A>C (p.Asn154His)SNV Pathogenic 14571 rs57784225 17:38978378-38978378 17:40822126-40822126
5 KRT10 NM_000421.4(KRT10):c.478T>G (p.Tyr160Asp)SNV Pathogenic 14572 rs58414354 17:38978360-38978360 17:40822108-40822108
6 KRT10 NM_000421.4(KRT10):c.467G>A (p.Arg156His)SNV Pathogenic 14573 rs58075662 17:38978371-38978371 17:40822119-40822119
7 KRT10 KRT10, ARG10CYSundetermined variant Pathogenic 14574
8 KRT10 NM_000421.4(KRT10):c.1325T>A (p.Leu442Gln)SNV Pathogenic 14575 rs58026994 17:38975817-38975817 17:40819565-40819565
9 KRT10 NM_000421.4(KRT10):c.466C>T (p.Arg156Cys)SNV Pathogenic 14576 rs58852768 17:38978372-38978372 17:40822120-40822120
10 KRT10 NM_000421.4(KRT10):c.449T>G (p.Met150Arg)SNV Pathogenic 14577 rs58901407 17:38978389-38978389 17:40822137-40822137
11 KRT10 NM_000421.4(KRT10):c.1315A>G (p.Lys439Glu)SNV Pathogenic 14578 rs61434181 17:38975827-38975827 17:40819575-40819575
12 KRT10 NM_000421.4(KRT10):c.449T>C (p.Met150Thr)SNV Pathogenic 14579 rs58901407 17:38978389-38978389 17:40822137-40822137
13 KRT10 NM_000421.4(KRT10):c.1300C>T (p.Gln434Ter)SNV Pathogenic 29764 rs60035576 17:38975842-38975842 17:40819590-40819590
14 KRT10 NM_000421.4(KRT10):c.1281C>A (p.Cys427Ter)SNV Pathogenic 29765 rs387906640 17:38975861-38975861 17:40819609-40819609
15 KRT10 KRT10, 1-BP INS, 1325Cinsertion Pathogenic 29766
16 KRT1 NM_006121.4(KRT1):c.623T>C (p.Leu208Pro)SNV Pathogenic 66659 rs61616632 12:53072509-53072509 12:52678725-52678725
17 KRT1 KRT1, 1-BP INS, 1752Ginsertion Pathogenic 15921
18 KRT1 NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro)SNV Pathogenic 15915 rs137853225 12:53070110-53070110 12:52676326-52676326
19 KRT1 NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)SNV Pathogenic 15914 rs59429455 12:53073569-53073569 12:52679785-52679785
20 KRT1 NM_006121.4(KRT1):c.464T>A (p.Val155Asp)SNV Pathogenic 15913 rs57959072 12:53073669-53073669 12:52679885-52679885
21 KRT1 NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys)SNV Pathogenic 15909 rs58420087 12:53070089-53070089 12:52676305-52676305
22 KRT1 NM_006121.4(KRT1):c.482T>C (p.Leu161Pro)SNV Pathogenic 15908 rs57695159 12:53073651-53073651 12:52679867-52679867
23 KRT1 NM_006121.4(KRT1):c.931G>C (p.Glu311Gln)SNV Pathogenic 15907 rs137853224 12:53071466-53071466 12:52677682-52677682
24 KRT10 NM_000421.4(KRT10):c.1155+5G>ASNV Pathogenic 66159 rs267607381 17:38976296-38976296 17:40820044-40820044
25 COL7A1 NM_000094.3(COL7A1):c.1442G>A (p.Arg481His)SNV Likely pathogenic 373954 rs147040026 3:48629171-48629171 3:48591738-48591738
26 KRT1 NM_006121.4(KRT1):c.982A>T (p.Thr328Ser)SNV Conflicting interpretations of pathogenicity 309648 rs139428176 12:53071246-53071246 12:52677462-52677462
27 KRT1 NM_006121.4(KRT1):c.*372G>ASNV Uncertain significance 309631 rs886049633 12:53068605-53068605 12:52674821-52674821
28 KRT1 NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro)SNV Uncertain significance 883452 12:53070176-53070176 12:52676392-52676392
29 KRT1 NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser)SNV Uncertain significance 881054 12:53069348-53069348 12:52675564-52675564
30 KRT1 NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser)SNV Uncertain significance 881053 12:53069246-53069246 12:52675462-52675462
31 KRT1 NM_006121.4(KRT1):c.*72G>TSNV Uncertain significance 883407 12:53068905-53068905 12:52675121-52675121
32 KRT1 NM_006121.4(KRT1):c.729C>T (p.Asp243=)SNV Uncertain significance 881567 12:53072403-53072403 12:52678619-52678619
33 KRT1 NM_006121.4(KRT1):c.1002T>C (p.Asn334=)SNV Uncertain significance 881095 12:53071226-53071226 12:52677442-52677442
34 KRT1 NM_006121.4(KRT1):c.*275G>ASNV Uncertain significance 309633 rs886049634 12:53068702-53068702 12:52674918-52674918
35 KRT1 NM_006121.4(KRT1):c.257G>A (p.Arg86His)SNV Uncertain significance 309655 rs886049637 12:53073876-53073876 12:52680092-52680092
36 KRT1 NM_006121.4(KRT1):c.477G>C (p.Gln159His)SNV Uncertain significance 309652 rs886049635 12:53073656-53073656 12:52679872-52679872
37 KRT1 NM_006121.4(KRT1):c.374G>A (p.Gly125Asp)SNV Uncertain significance 309653 rs886049636 12:53073759-53073759 12:52679975-52679975
38 KRT1 NM_006121.4(KRT1):c.302G>T (p.Gly101Val)SNV Uncertain significance 309654 rs147840212 12:53073831-53073831 12:52680047-52680047
39 KRT1 NM_006121.4(KRT1):c.1475+14G>ASNV Likely benign 309643 rs369324638 12:53070045-53070045 12:52676261-52676261
40 KRT1 NM_006121.4(KRT1):c.1482T>C (p.Ser494=)SNV Benign/Likely benign 309642 rs181516749 12:53069522-53069522 12:52675738-52675738
41 KRT1 NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala)SNV Benign/Likely benign 309636 rs140098565 12:53069000-53069000 12:52675216-52675216
42 KRT1 NM_006121.4(KRT1):c.1074C>T (p.Tyr358=)SNV Benign/Likely benign 309645 rs150503977 12:53071154-53071154 12:52677370-52677370
43 KRT1 NM_006121.4(KRT1):c.113G>A (p.Arg38His)SNV Benign/Likely benign 309656 rs34787940 12:53074020-53074020 12:52680236-52680236
44 KRT1 NM_006121.4(KRT1):c.1511-11T>CSNV Benign/Likely benign 881514 12:53069412-53069412 12:52675628-52675628
45 KRT1 NM_006121.4(KRT1):c.45G>A (p.Gly15=)SNV Benign/Likely benign 883502 12:53074088-53074088 12:52680304-52680304
46 KRT1 NM_006121.4(KRT1):c.1527C>T (p.His509=)SNV Benign/Likely benign 309640 rs371428130 12:53069385-53069385 12:52675601-52675601
47 KRT1 NM_006121.4(KRT1):c.1107C>T (p.Ala369=)SNV Benign/Likely benign 309644 rs183980482 12:53071121-53071121 12:52677337-52677337
48 KRT1 NM_006121.4(KRT1):c.592-8G>ASNV Benign 309651 rs147622831 12:53072548-53072548 12:52678764-52678764
49 KRT1 NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly)SNV Benign 309639 rs77846840 12:53069243-53069243 12:52675459-52675459
50 KRT1 NM_006121.4(KRT1):c.75C>T (p.Ile25=)SNV Benign 66664 rs828367 12:53074058-53074058 12:52680274-52680274

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

Expression for Epidermolytic Hyperkeratosis

Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.

Pathways for Epidermolytic Hyperkeratosis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 TGM1 TCHH SPRR1B LORICRIN KRT9 KRT6B
2
Show member pathways
12.44 KRT9 KRT25 KRT17 KRT16 KRT14 KRT10
3
Show member pathways
12.36 TGM1 TCHH SPRR1B LORICRIN KRT9 KRT6B
4 12.29 KRT6B KRT6A KRT5 KRT4 KRT17 KRT10
5
Show member pathways
11.79 KRT6A KRT5 KRT4 KRT2 KRT17 KRT16
6 11.72 KRT9 KRT25 KRT17 KRT16 KRT14 KRT10
7 11.58 KRT14 KRT1 IVL
8 11.49 KRT5 KRT17 KRT14

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 cytosol GO:0005829 10.21 TGM1 TCHH SPRR1B LORICRIN KRT9 KRT6B
2 extracellular exosome GO:0070062 10.1 TGM1 KRT9 KRT6B KRT6A KRT5 KRT25
3 keratin filament GO:0045095 9.7 KRT6B KRT6A KRT5 KRT4 KRT2 KRT14
4 cornified envelope GO:0001533 9.61 TGM1 TCHH SPRR1B LORICRIN KRT2 KRT10
5 intermediate filament GO:0005882 9.44 KRT9 KRT6B KRT6A KRT5 KRT4 KRT25

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.91 LORICRIN KRT6B KRT6A KRT5 KRT4 KRT25
2 keratinization GO:0031424 9.89 TGM1 TCHH SPRR1B LORICRIN KRT9 KRT6B
3 epidermis development GO:0008544 9.8 SPRR1B KRT9 KRT5 KRT2 KRT14
4 keratinocyte differentiation GO:0030216 9.8 TGM1 SPRR1B LORICRIN KRT16 KRT10 IVL
5 peptide cross-linking GO:0018149 9.76 TGM1 SPRR1B LORICRIN KRT2 KRT10 KRT1
6 intermediate filament organization GO:0045109 9.72 TCHH KRT9 KRT25 KRT2 KRT17
7 establishment of skin barrier GO:0061436 9.65 KRT16 KRT1 FLG
8 morphogenesis of an epithelium GO:0002009 9.63 KRT6A KRT17 KRT16
9 hair cycle GO:0042633 9.61 KRT25 KRT16 KRT14
10 cornification GO:0070268 9.58 TGM1 TCHH SPRR1B LORICRIN KRT9 KRT6B
11 protein heterotetramerization GO:0051290 9.54 KRT10 KRT1
12 hemidesmosome assembly GO:0031581 9.52 KRT5 KRT14
13 keratinocyte migration GO:0051546 9.51 KRT2 KRT16
14 positive regulation of epidermis development GO:0045684 9.49 KRT2 KRT10

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 9.61 SPRR1B LORICRIN KRT9 KRT25 KRT17 KRT16
2 structural constituent of epidermis GO:0030280 9.55 LORICRIN KRT2 KRT10 KRT1 FLG
3 transition metal ion binding GO:0046914 9.26 TCHH FLG
4 structural constituent of cytoskeleton GO:0005200 9.23 LORICRIN KRT9 KRT6B KRT6A KRT5 KRT2

Sources for Epidermolytic Hyperkeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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