EPPK
MCID: PLM102
MIFTS: 49

Palmoplantar Keratoderma, Epidermolytic (EPPK)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

MalaCards integrated aliases for Palmoplantar Keratoderma, Epidermolytic:

Name: Palmoplantar Keratoderma, Epidermolytic 57 53 55
Epidermolytic Palmoplantar Keratoderma 12 53 37 13 15
Keratosis Palmaris Et Plantaris Familiaris 57 53 75 73
Keratoderma, Palmoplantar, Epidermolytic 75 40 73
Localized Epidermolytic Hyperkeratosis 75 29 6
Keratosis of Greither 57 53 75
Tylosis 57 53 75
Eppk 57 53 75
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 53 73
Epidermolytic Palmoplantar Keratoderma Vorner Type 53 73
Keratoderma, Epidermolytic Palmoplantar 57 53
Hyperkeratosis, Localized Epidermolytic 57 53
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type 53
Hyperkeratosis Palmoplantar Localized Epidermolytic 53
Epidermolytic Palmoplantar Keratoderma of Voerner 53
Epidermolytic Palmoplantar Keratoderma of Vörner 53
Focal Non Epidermolytic Palmoplantar Keratoderma 53
Palmoplantar Keratoderma, Nonepidermolytic 73
Unilateral Palmoplantar Verrucous Nevus 75
Palmoplantar Keratoderma, Vorner Type 57
Palmoplantar Keratoderma Vorner Type 75
Keratoderma, Palmoplantar, Diffuse 73
Epidermolytic Unna-Thost Disease 75
Early Onset Tylosis 53
Late Onset Tylosis 53
Familial Tylosis 53
Hyperkeratosis 73
Type B Tylosis 73
Type a Tylosis 73
Ehppk 75
Ppke 57
Upvn 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
palmoplantar keratoderma, epidermolytic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Palmoplantar Keratoderma, Epidermolytic

OMIM : 57 Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). (144200)

MalaCards based summary : Palmoplantar Keratoderma, Epidermolytic, also known as epidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, bothnian type and palmoplantar keratoderma, nonepidermolytic. An important gene associated with Palmoplantar Keratoderma, Epidermolytic is KRT9 (Keratin 9), and among its related pathways/superpathways are Developmental Biology and Circadian entrainment. Affiliated tissues include skin, heart and tongue, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

NIH Rare Diseases : 53 Tylosis is a rare genetic disorder characterized by hyperkeratosis of the palms of the hands and soles of the feet. Hyperkeratosis is an overgrowth of the outer skin layer (epidermis). The hyperkeratosis may be limited to pressure-bearing areas or cover the entire surface of the palms and soles. The degree and pattern of involvement can vary between the hands and feet of the same individual, within families, and among families. Tylosis is inherited in an autosomal dominant pattern. Two types of tylosis have been described, a late onset form and an early onset form. Late onset tylosis (type A) occurs between the ages of 5 and 15 and is reported to be associated with a high incidence of esophageal cancer. Early onset tylosis (type B) occurs in the first year of life and appears to be a benign disorder. Distinguishing between the two is important for management and prognosis.

UniProtKB/Swiss-Prot : 75 Keratoderma, palmoplantar, epidermolytic: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. Unilateral palmoplantar verrucous nevus: UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko.

Related Diseases for Palmoplantar Keratoderma, Epidermolytic

Diseases related to Palmoplantar Keratoderma, Epidermolytic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, bothnian type 33.1 KRT9 KRT16
2 palmoplantar keratoderma, nonepidermolytic 32.2 KRT16 KRT1
3 epidermolytic hyperkeratosis 31.2 LOR KRT9 KRT16 KRT10 KRT1 FLG
4 palmoplantar keratosis 30.6 KRT1 KRT16 KRT9 LOR
5 skin disease 28.9 LOR KRT9 KRT16 KRT14 KRT10 KRT1
6 tylosis with esophageal cancer 12.6
7 isolated focal non-epidermolytic palmoplantar keratoderma 12.4
8 ankylosing vertebral hyperostosis with tylosis 12.3
9 naxos disease 11.5
10 cardiomyopathy, dilated, with woolly hair and keratoderma 11.4
11 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.4
12 ichthyosis hystrix, curth-macklin type 11.3
13 papillon-lefevre syndrome 11.3
14 palmoplantar keratoderma, nonepidermolytic, focal 1 11.3
15 knuckle pads 10.6
16 ovarian cancer 10.4
17 esophageal cancer 10.3
18 dilated cardiomyopathy 10.2
19 diphtheria 10.2
20 ehlers-danlos syndrome 10.2
21 woolly hair syndrome 10.2
22 keratoderma with woolly hair 10.2
23 leukoplakia 10.2
24 acanthoma 10.2 KRT10 KRT1
25 epidermolytic acanthoma 10.2 KRT10 KRT1
26 erythroderma, ichthyosiform, congenital reticular 10.2 KRT10 KRT1
27 eccrine acrospiroma 10.2 KRT9 KRT10
28 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.1 KRT10 KRT1
29 ichthyosis bullosa of siemens 10.1 KRT10 KRT1
30 bowen's disease 10.1 KRT16 KRT10
31 steatocystoma multiplex 10.1 KRT16 KRT10
32 squamous cell carcinoma of the oral tongue 10.1 KRT16 KRT10
33 autosomal dominant epidermolytic ichthyosis 10.1 KRT10 KRT1
34 oral leukoplakia 10.1
35 basal cell carcinoma, infundibulocystic 10.1 KRT14 KRT10
36 large cell acanthoma 10.1 KRT14 KRT10
37 breast squamous cell carcinoma 10.1 KRT14 KRT10
38 epidermolysis bullosa simplex with mottled pigmentation 10.1 KRT14 KRT10
39 nevus, epidermal 10.1 KRT16 KRT10
40 epidermolysis bullosa simplex, dowling-meara type 10.0 KRT14 KRT10
41 intraneural perineurioma 10.0 KRT14 KRT10
42 hidradenitis 10.0 KRT14 KRT10
43 skin benign neoplasm 10.0 KRT14 KRT1
44 hidradenitis suppurativa 10.0 KRT14 KRT10
45 irritant dermatitis 10.0 KRT16 FLG
46 adermatoglyphia 10.0 LOR KRT14
47 dermatitis, atopic, 2 10.0 LOR FLG
48 recessive dystrophic epidermolysis bullosa 10.0 KRT1 FLG
49 epidermodysplasia verruciformis 10.0 KRT14 KRT10
50 striate palmoplantar keratoderma 10.0 KRT1 KRT10 KRT14

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Epidermolytic:



Diseases related to Palmoplantar Keratoderma, Epidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Epidermolytic

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
localized epidermolytic hyperkeratosis
thick, waxy skin of palms and soles with well-defined erythematous border
keratosis palmaris
keratosis plantaris
hyperkeratosis on dorsal surface of fingers and toes (knuckle pads, in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
cytolysis of keratinocytes in spinous and granular layers
aggregated tonofilaments at cell surface

Skin Nails Hair Skin Histology:
thickened granular layer of epidermis
large irregularly shaped keratohyalin granules
perinuclear vacuolization of keratinocytes


Clinical features from OMIM:

144200

Human phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 frequent (33%) HP:0000975
2 palmoplantar keratoderma 32 hallmark (90%) HP:0000982
3 abnormality of the fingernails 32 frequent (33%) HP:0001231
4 erythema 32 hallmark (90%) HP:0010783
5 eczema 32 frequent (33%) HP:0000964
6 verrucae 32 hallmark (90%) HP:0200043
7 increased ige level 32 HP:0003212
8 palmoplantar hyperkeratosis 32 HP:0000972
9 localized epidermolytic hyperkeratosis 32 hallmark (90%) HP:0007559

Drugs & Therapeutics for Palmoplantar Keratoderma, Epidermolytic

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Epidermolytic

Genetic tests related to Palmoplantar Keratoderma, Epidermolytic:

# Genetic test Affiliating Genes
1 Localized Epidermolytic Hyperkeratosis 29 KRT1 KRT9

Anatomical Context for Palmoplantar Keratoderma, Epidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

41
Skin, Heart, Tongue

Publications for Palmoplantar Keratoderma, Epidermolytic

Articles related to Palmoplantar Keratoderma, Epidermolytic:

(show top 50) (show all 82)
# Title Authors Year
1
Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families. ( 29044727 )
2018
2
Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma. ( 29068086 )
2018
3
Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma. ( 29719290 )
2018
4
CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse. ( 30195761 )
2018
5
A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma. ( 27726289 )
2017
6
Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation. ( 27864007 )
2016
7
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. ( 27255181 )
2016
8
A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy. ( 27003758 )
2016
9
A Spontaneous KRT16 Mutation in a Dog Breed: A Model for Human Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK). ( 25521457 )
2015
10
A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review. ( 24899405 )
2014
11
[Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma]. ( 24510562 )
2014
12
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma. ( 24862219 )
2014
13
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9. ( 25299193 )
2014
14
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. ( 23278372 )
2013
15
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. ( 23397986 )
2013
16
Diffuse non-epidermolytic palmoplantar keratoderma. ( 24222295 )
2013
17
Case of epidermolytic palmoplantar keratoderma with knuckle pads. ( 21463360 )
2012
18
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. ( 22262370 )
2012
19
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). ( 23144341 )
2012
20
[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma]. ( 22678789 )
2012
21
A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. ( 21715251 )
2011
22
Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma. ( 21489919 )
2011
23
A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. ( 20964665 )
2010
24
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. ( 19874353 )
2010
25
Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred. ( 19548225 )
2009
26
Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes. ( 19451521 )
2009
27
Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma. ( 19223272 )
2009
28
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. ( 17362238 )
2009
29
[Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma]. ( 19953481 )
2009
30
Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma. ( 18573708 )
2008
31
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. ( 18477167 )
2008
32
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ( 18360110 )
2008
33
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads. ( 17074468 )
2007
34
L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. ( 16911293 )
2006
35
A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma. ( 16961539 )
2006
36
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. ( 16439967 )
2006
37
An insertion-deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma. ( 15840121 )
2005
38
The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses. ( 16043929 )
2005
39
Diagnosis of epidermolytic palmoplantar keratoderma in a very early stage by gene analysis. ( 16361744 )
2005
40
A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. ( 15605275 )
2005
41
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. ( 15099359 )
2004
42
[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma]. ( 15583984 )
2004
43
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. ( 15214894 )
2004
44
[Present status of the molecular genetics in epidermolytic palmoplantar keratoderma]. ( 15300637 )
2004
45
A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. ( 15115518 )
2004
46
Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma. ( 15564199 )
2004
47
Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma. ( 12926810 )
2003
48
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. ( 12838553 )
2003
49
A de novo mutation in the keratin 9 gene in a family with epidermolytic palmoplantar keratoderma from northern Sweden. ( 12735645 )
2003
50
Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. ( 14675368 )
2003

Variations for Palmoplantar Keratoderma, Epidermolytic

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

75 (show all 21)
# Symbol AA change Variation ID SNP ID
1 KRT9 p.Asn161Lys VAR_003822 rs57536312
2 KRT9 p.Arg163Gln VAR_003823 rs57758262
3 KRT9 p.Arg163Trp VAR_003824 rs59616921
4 KRT9 p.Leu168Ser VAR_003825 rs61157095
5 KRT9 p.Met157Thr VAR_010499 rs59510579
6 KRT9 p.Met157Val VAR_010500 rs58597584
7 KRT9 p.Leu160Val VAR_010501 rs28940896
8 KRT9 p.Asn161Ser VAR_010502 rs56707768
9 KRT9 p.Asn161Tyr VAR_010503 rs59296273
10 KRT9 p.Gln172Pro VAR_010504 rs59878153
11 KRT9 p.Leu160Phe VAR_035438 rs28940896
12 KRT9 p.Val171Met VAR_035439 rs57019720
13 KRT9 p.Met157Arg VAR_036805 rs59510579
14 KRT9 p.Asn161His VAR_036806 rs59296273
15 KRT9 p.Asn161Ile VAR_036807 rs56707768
16 KRT9 p.Arg163Pro VAR_036808 rs57758262
17 KRT9 p.Leu458Phe VAR_036810 rs58120120
18 KRT9 p.Met157Lys VAR_071977 rs59510579
19 KRT9 p.Cys406Arg VAR_071978 rs77688767
20 KRT9 p.Tyr454His VAR_071979 rs267607420
21 KRT9 p.Leu458Pro VAR_071980

ClinVar genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

6 (show top 50) (show all 103)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT9 NM_000226.3(KRT9): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic/Likely pathogenic rs59616921 GRCh37 Chromosome 17, 39727758: 39727758
2 KRT9 NM_000226.3(KRT9): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic/Likely pathogenic rs59616921 GRCh38 Chromosome 17, 41571506: 41571506
3 KRT9 NM_000226.3(KRT9): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs59878153 GRCh37 Chromosome 17, 39727730: 39727730
4 KRT9 NM_000226.3(KRT9): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs59878153 GRCh38 Chromosome 17, 41571478: 41571478
5 KRT9 NM_000226.3(KRT9): c.481A> T (p.Asn161Tyr) single nucleotide variant Pathogenic rs59296273 GRCh37 Chromosome 17, 39727764: 39727764
6 KRT9 NM_000226.3(KRT9): c.481A> T (p.Asn161Tyr) single nucleotide variant Pathogenic rs59296273 GRCh38 Chromosome 17, 41571512: 41571512
7 KRT9 NM_000226.3(KRT9): c.483T> A (p.Asn161Lys) single nucleotide variant Pathogenic rs57536312 GRCh37 Chromosome 17, 39727762: 39727762
8 KRT9 NM_000226.3(KRT9): c.483T> A (p.Asn161Lys) single nucleotide variant Pathogenic rs57536312 GRCh38 Chromosome 17, 41571510: 41571510
9 KRT9 NM_000226.3(KRT9): c.488G> A (p.Arg163Gln) single nucleotide variant Uncertain significance rs57758262 GRCh37 Chromosome 17, 39727757: 39727757
10 KRT9 NM_000226.3(KRT9): c.488G> A (p.Arg163Gln) single nucleotide variant Uncertain significance rs57758262 GRCh38 Chromosome 17, 41571505: 41571505
11 KRT9 NM_000226.3(KRT9): c.469A> G (p.Met157Val) single nucleotide variant Pathogenic rs58597584 GRCh37 Chromosome 17, 39727776: 39727776
12 KRT9 NM_000226.3(KRT9): c.469A> G (p.Met157Val) single nucleotide variant Pathogenic rs58597584 GRCh38 Chromosome 17, 41571524: 41571524
13 KRT9 NM_000226.3(KRT9): c.482A> G (p.Asn161Ser) single nucleotide variant Pathogenic rs56707768 GRCh37 Chromosome 17, 39727763: 39727763
14 KRT9 NM_000226.3(KRT9): c.482A> G (p.Asn161Ser) single nucleotide variant Pathogenic rs56707768 GRCh38 Chromosome 17, 41571511: 41571511
15 KRT9 NM_000226.3(KRT9): c.503T> C (p.Leu168Ser) single nucleotide variant Pathogenic rs61157095 GRCh37 Chromosome 17, 39727742: 39727742
16 KRT9 NM_000226.3(KRT9): c.503T> C (p.Leu168Ser) single nucleotide variant Pathogenic rs61157095 GRCh38 Chromosome 17, 41571490: 41571490
17 KRT9 NM_000226.3(KRT9): c.478C> G (p.Leu160Val) single nucleotide variant Pathogenic rs28940896 GRCh37 Chromosome 17, 39727767: 39727767
18 KRT9 NM_000226.3(KRT9): c.478C> G (p.Leu160Val) single nucleotide variant Pathogenic rs28940896 GRCh38 Chromosome 17, 41571515: 41571515
19 KRT9 NM_000226.3(KRT9): c.470T> C (p.Met157Thr) single nucleotide variant Pathogenic rs59510579 GRCh37 Chromosome 17, 39727775: 39727775
20 KRT9 NM_000226.3(KRT9): c.470T> C (p.Met157Thr) single nucleotide variant Pathogenic rs59510579 GRCh38 Chromosome 17, 41571523: 41571523
21 KRT9 NM_000226.3(KRT9): c.511G> A (p.Val171Met) single nucleotide variant Pathogenic rs57019720 GRCh37 Chromosome 17, 39727734: 39727734
22 KRT9 NM_000226.3(KRT9): c.511G> A (p.Val171Met) single nucleotide variant Pathogenic rs57019720 GRCh38 Chromosome 17, 41571482: 41571482
23 KRT1 KRT1, IVS6, G-A, +1 single nucleotide variant Pathogenic
24 KRT9 NM_000226.3(KRT9): c.1216T> C (p.Cys406Arg) single nucleotide variant Uncertain significance rs77688767 GRCh37 Chromosome 17, 39724592: 39724592
25 KRT9 NM_000226.3(KRT9): c.1216T> C (p.Cys406Arg) single nucleotide variant Uncertain significance rs77688767 GRCh38 Chromosome 17, 41568340: 41568340
26 KRT9 NM_000226.3(KRT9): c.429A> C (p.Gly143=) single nucleotide variant Likely benign rs8075921 GRCh37 Chromosome 17, 39727816: 39727816
27 KRT9 NM_000226.3(KRT9): c.429A> C (p.Gly143=) single nucleotide variant Likely benign rs8075921 GRCh38 Chromosome 17, 41571564: 41571564
28 KRT9 NM_000226.3(KRT9): c.*309delC deletion Uncertain significance rs886052909 GRCh38 Chromosome 17, 41565884: 41565884
29 KRT9 NM_000226.3(KRT9): c.*309delC deletion Uncertain significance rs886052909 GRCh37 Chromosome 17, 39722136: 39722136
30 KRT9 NM_000226.3(KRT9): c.1800C> T (p.Tyr600=) single nucleotide variant Uncertain significance rs148193621 GRCh38 Chromosome 17, 41567345: 41567345
31 KRT9 NM_000226.3(KRT9): c.1800C> T (p.Tyr600=) single nucleotide variant Uncertain significance rs148193621 GRCh37 Chromosome 17, 39723597: 39723597
32 KRT9 NM_000226.3(KRT9): c.1520G> T (p.Gly507Val) single nucleotide variant Uncertain significance rs149321431 GRCh37 Chromosome 17, 39723877: 39723877
33 KRT9 NM_000226.3(KRT9): c.1520G> T (p.Gly507Val) single nucleotide variant Uncertain significance rs149321431 GRCh38 Chromosome 17, 41567625: 41567625
34 KRT9 NM_000226.3(KRT9): c.1407A> T (p.Gly469=) single nucleotide variant Likely benign rs3890472 GRCh37 Chromosome 17, 39723990: 39723990
35 KRT9 NM_000226.3(KRT9): c.1407A> T (p.Gly469=) single nucleotide variant Likely benign rs3890472 GRCh38 Chromosome 17, 41567738: 41567738
36 KRT9 NM_000226.3(KRT9): c.1394T> G (p.Phe465Cys) single nucleotide variant Uncertain significance rs753893753 GRCh37 Chromosome 17, 39724414: 39724414
37 KRT9 NM_000226.3(KRT9): c.1394T> G (p.Phe465Cys) single nucleotide variant Uncertain significance rs753893753 GRCh38 Chromosome 17, 41568162: 41568162
38 KRT9 NM_000226.3(KRT9): c.644T> C (p.Ile215Thr) single nucleotide variant Uncertain significance rs886052912 GRCh38 Chromosome 17, 41570219: 41570219
39 KRT9 NM_000226.3(KRT9): c.644T> C (p.Ile215Thr) single nucleotide variant Uncertain significance rs886052912 GRCh37 Chromosome 17, 39726471: 39726471
40 KRT9 NM_000226.3(KRT9): c.351T> C (p.Gly117=) single nucleotide variant Uncertain significance rs115965791 GRCh38 Chromosome 17, 41571642: 41571642
41 KRT9 NM_000226.3(KRT9): c.351T> C (p.Gly117=) single nucleotide variant Uncertain significance rs115965791 GRCh37 Chromosome 17, 39727894: 39727894
42 KRT9 NM_000226.3(KRT9): c.245G> A (p.Ser82Asn) single nucleotide variant Uncertain significance rs148867398 GRCh38 Chromosome 17, 41571748: 41571748
43 KRT9 NM_000226.3(KRT9): c.245G> A (p.Ser82Asn) single nucleotide variant Uncertain significance rs148867398 GRCh37 Chromosome 17, 39728000: 39728000
44 KRT9 NM_000226.3(KRT9): c.72C> T (p.Ser24=) single nucleotide variant Uncertain significance rs369925340 GRCh38 Chromosome 17, 41571921: 41571921
45 KRT9 NM_000226.3(KRT9): c.72C> T (p.Ser24=) single nucleotide variant Uncertain significance rs369925340 GRCh37 Chromosome 17, 39728173: 39728173
46 KRT9 NM_000226.3(KRT9): c.-31G> A single nucleotide variant Uncertain significance rs376504688 GRCh38 Chromosome 17, 41572023: 41572023
47 KRT9 NM_000226.3(KRT9): c.-31G> A single nucleotide variant Uncertain significance rs376504688 GRCh37 Chromosome 17, 39728275: 39728275
48 KRT9 NM_000226.3(KRT9): c.1839C> T (p.Tyr613=) single nucleotide variant Uncertain significance rs142173628 GRCh38 Chromosome 17, 41567306: 41567306
49 KRT9 NM_000226.3(KRT9): c.1839C> T (p.Tyr613=) single nucleotide variant Uncertain significance rs142173628 GRCh37 Chromosome 17, 39723558: 39723558
50 KRT9 NM_000226.3(KRT9): c.1594G> A (p.Gly532Ser) single nucleotide variant Uncertain significance rs372549420 GRCh37 Chromosome 17, 39723803: 39723803

Expression for Palmoplantar Keratoderma, Epidermolytic

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Epidermolytic.

Pathways for Palmoplantar Keratoderma, Epidermolytic

GO Terms for Palmoplantar Keratoderma, Epidermolytic

Cellular components related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 EVPL FLG KRT1 KRT10 KRT14 KRT16
2 extracellular exosome GO:0070062 9.8 EVPL KRT1 KRT10 KRT14 KRT16 KRT9
3 keratin filament GO:0045095 9.43 KRT1 KRT14 KRT86
4 cornified envelope GO:0001533 9.35 EVPL FLG KRT1 KRT10 LOR
5 intermediate filament GO:0005882 9.23 EVPL FLG KRT1 KRT10 KRT14 KRT16

Biological processes related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.67 EVPL KRT14 KRT16 KRT9
2 keratinocyte differentiation GO:0030216 9.65 EVPL FLG KRT10 KRT16 LOR
3 keratinization GO:0031424 9.56 EVPL KRT1 KRT10 KRT14 KRT16 KRT86
4 peptide cross-linking GO:0018149 9.55 EVPL FLG KRT1 KRT10 LOR
5 establishment of skin barrier GO:0061436 9.5 FLG KRT1 KRT16
6 protein heterotetramerization GO:0051290 9.46 KRT1 KRT10
7 intermediate filament cytoskeleton organization GO:0045104 9.43 EVPL KRT16
8 hair cycle GO:0042633 9.4 KRT14 KRT16
9 cornification GO:0070268 9.28 EVPL FLG KRT1 KRT10 KRT14 KRT16

Molecular functions related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.46 KRT14 KRT16 KRT9 LOR
2 protein binding, bridging GO:0030674 9.26 EVPL LOR
3 structural constituent of epidermis GO:0030280 9.26 FLG KRT1 KRT10 LOR
4 structural molecule activity GO:0005198 9.17 EVPL FLG KRT1 KRT10 KRT16 KRT86

Sources for Palmoplantar Keratoderma, Epidermolytic

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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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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