MCID: PLM102
MIFTS: 47

Palmoplantar Keratoderma, Epidermolytic

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
Keratosis Palmaris Et Plantaris Familiaris 57 53 75 73
Epidermolytic Palmoplantar Keratoderma 12 53 37 13
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 keratosis palmaris et plantaris familiaris, is related to palmoplantar keratoderma, nonepidermolytic and epidermolytic hyperkeratosis. 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, and related phenotypes are palmoplantar hyperkeratosis and increased ige level

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 all 40)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic 29.6 KRT1 KRT16 KRT17 KRT9
2 epidermolytic hyperkeratosis 29.6 KRT1 KRT16 KRT17 KRT9
3 palmoplantar keratosis 29.3 KRT1 KRT16 KRT9
4 tylosis with esophageal cancer 12.5
5 isolated focal non-epidermolytic palmoplantar keratoderma 12.2
6 ankylosing vertebral hyperostosis with tylosis 12.2
7 palmoplantar keratoderma, bothnian type 11.7
8 palmoplantar keratoderma, nonepidermolytic, focal 1 11.5
9 naxos disease 11.3
10 cardiomyopathy, dilated, with woolly hair and keratoderma 11.2
11 epidermolytic acanthoma 10.1 KRT1 KRT9
12 esophagitis 10.1
13 acanthoma 10.1 KRT1 KRT9
14 leukoplakia 10.0
15 esophageal cancer 10.0
16 squamous cell carcinoma 10.0
17 oral leukoplakia 10.0
18 beckwith-wiedemann syndrome 9.8
19 birt-hogg-dube syndrome 9.8
20 nipples, supernumerary 9.8
21 incontinentia pigmenti 9.8
22 heart disease 9.8
23 melanoma 9.8
24 hyperostosis 9.8
25 pachyonychia congenita 2 9.7 KRT16 KRT17
26 keratosis 9.7 KRT1 KRT9
27 tinea corporis 9.6 KRT16 KRT17
28 median rhomboid glossitis 9.6 KRT16 KRT17
29 steatocystoma multiplex 9.6 KRT16 KRT17
30 bowen's disease 9.6 KRT16 KRT17
31 glossitis 9.5 KRT16 KRT17
32 keratoacanthoma 9.4 KRT16 KRT17
33 primary cutaneous amyloidosis 9.3 KRT16 KRT17
34 pachyonychia congenita 1 9.2 KRT16 KRT17 KRT9
35 white sponge nevus 1 9.2 KRT1 KRT16 KRT9
36 ichthyosis bullosa of siemens 9.2 KRT1 KRT16 KRT9
37 monilethrix 9.1 KRT16 KRT17 KRT9
38 basal cell carcinoma 9.0 KRT16 KRT17
39 type i 9.0 KRT16 KRT17 KRT9
40 skin disease 8.6 KRT1 KRT16 KRT17 KRT9

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

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 KRT17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 KRT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.6 KRT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.6 KRT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 KRT17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 KRT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.6 KRT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.6 KRT17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.6 KRT17 KRT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.6 KRT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.6 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 KRT17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.6 KRT17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 KRT17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.6 KRT17
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 KRT17
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 KRT17
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.6 KRT1

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 EVPL KRT1 KRT16 KRT17

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

Publications for Palmoplantar Keratoderma, Epidermolytic

Articles related to Palmoplantar Keratoderma, Epidermolytic:

(show top 50) (show all 76)
# Title Authors Year
1
Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation. ( 27864007 )
2016
2
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
3
A Spontaneous KRT16 Mutation in a Dog Breed: A Model for Human Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK). ( 25521457 )
2015
4
A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review. ( 24899405 )
2014
5
[Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma]. ( 24510562 )
2014
6
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma. ( 24862219 )
2014
7
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9. ( 25299193 )
2014
8
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. ( 23278372 )
2013
9
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. ( 23397986 )
2013
10
Diffuse non-epidermolytic palmoplantar keratoderma. ( 24222295 )
2013
11
Case of epidermolytic palmoplantar keratoderma with knuckle pads. ( 21463360 )
2012
12
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. ( 22262370 )
2012
13
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). ( 23144341 )
2012
14
[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma]. ( 22678789 )
2012
15
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
16
Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma. ( 21489919 )
2011
17
A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. ( 20964665 )
2010
18
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. ( 19874353 )
2010
19
Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred. ( 19548225 )
2009
20
Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes. ( 19451521 )
2009
21
Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma. ( 19223272 )
2009
22
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. ( 17362238 )
2009
23
[Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma]. ( 19953481 )
2009
24
Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma. ( 18573708 )
2008
25
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. ( 18477167 )
2008
26
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ( 18360110 )
2008
27
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads. ( 17074468 )
2007
28
L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. ( 16911293 )
2006
29
A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma. ( 16961539 )
2006
30
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. ( 16439967 )
2006
31
An insertion-deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma. ( 15840121 )
2005
32
The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses. ( 16043929 )
2005
33
Diagnosis of epidermolytic palmoplantar keratoderma in a very early stage by gene analysis. ( 16361744 )
2005
34
A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. ( 15605275 )
2005
35
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. ( 15099359 )
2004
36
[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma]. ( 15583984 )
2004
37
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. ( 15214894 )
2004
38
[Present status of the molecular genetics in epidermolytic palmoplantar keratoderma]. ( 15300637 )
2004
39
A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. ( 15115518 )
2004
40
Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma. ( 15564199 )
2004
41
Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma. ( 12926810 )
2003
42
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. ( 12838553 )
2003
43
A de novo mutation in the keratin 9 gene in a family with epidermolytic palmoplantar keratoderma from northern Sweden. ( 12735645 )
2003
44
Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. ( 14675368 )
2003
45
De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma. ( 14517588 )
2003
46
Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. ( 12192490 )
2002
47
Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high- performance liquid chromatography. ( 12072061 )
2002
48
Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma. ( 12046815 )
2002
49
A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma. ( 12532041 )
2002
50
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. ( 11286630 )
2001

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 97)
# 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.469A> G (p.Met157Val) single nucleotide variant Pathogenic rs58597584 GRCh37 Chromosome 17, 39727776: 39727776
10 KRT9 NM_000226.3(KRT9): c.469A> G (p.Met157Val) single nucleotide variant Pathogenic rs58597584 GRCh38 Chromosome 17, 41571524: 41571524
11 KRT9 NM_000226.3(KRT9): c.482A> G (p.Asn161Ser) single nucleotide variant Pathogenic rs56707768 GRCh37 Chromosome 17, 39727763: 39727763
12 KRT9 NM_000226.3(KRT9): c.482A> G (p.Asn161Ser) single nucleotide variant Pathogenic rs56707768 GRCh38 Chromosome 17, 41571511: 41571511
13 KRT9 NM_000226.3(KRT9): c.503T> C (p.Leu168Ser) single nucleotide variant Pathogenic rs61157095 GRCh37 Chromosome 17, 39727742: 39727742
14 KRT9 NM_000226.3(KRT9): c.503T> C (p.Leu168Ser) single nucleotide variant Pathogenic rs61157095 GRCh38 Chromosome 17, 41571490: 41571490
15 KRT9 NM_000226.3(KRT9): c.478C> G (p.Leu160Val) single nucleotide variant Pathogenic rs28940896 GRCh37 Chromosome 17, 39727767: 39727767
16 KRT9 NM_000226.3(KRT9): c.478C> G (p.Leu160Val) single nucleotide variant Pathogenic rs28940896 GRCh38 Chromosome 17, 41571515: 41571515
17 KRT9 NM_000226.3(KRT9): c.470T> C (p.Met157Thr) single nucleotide variant Pathogenic rs59510579 GRCh37 Chromosome 17, 39727775: 39727775
18 KRT9 NM_000226.3(KRT9): c.470T> C (p.Met157Thr) single nucleotide variant Pathogenic rs59510579 GRCh38 Chromosome 17, 41571523: 41571523
19 KRT9 NM_000226.3(KRT9): c.511G> A (p.Val171Met) single nucleotide variant Pathogenic rs57019720 GRCh37 Chromosome 17, 39727734: 39727734
20 KRT9 NM_000226.3(KRT9): c.511G> A (p.Val171Met) single nucleotide variant Pathogenic rs57019720 GRCh38 Chromosome 17, 41571482: 41571482
21 KRT1 KRT1, IVS6, G-A, +1 single nucleotide variant Pathogenic
22 KRT9 NM_000226.3(KRT9): c.*309delC deletion Uncertain significance rs886052909 GRCh38 Chromosome 17, 41565884: 41565884
23 KRT9 NM_000226.3(KRT9): c.*309delC deletion Uncertain significance rs886052909 GRCh37 Chromosome 17, 39722136: 39722136
24 KRT9 NM_000226.3(KRT9): c.1800C> T (p.Tyr600=) single nucleotide variant Uncertain significance rs148193621 GRCh38 Chromosome 17, 41567345: 41567345
25 KRT9 NM_000226.3(KRT9): c.1800C> T (p.Tyr600=) single nucleotide variant Uncertain significance rs148193621 GRCh37 Chromosome 17, 39723597: 39723597
26 KRT9 NM_000226.3(KRT9): c.1520G> T (p.Gly507Val) single nucleotide variant Uncertain significance rs149321431 GRCh37 Chromosome 17, 39723877: 39723877
27 KRT9 NM_000226.3(KRT9): c.1520G> T (p.Gly507Val) single nucleotide variant Uncertain significance rs149321431 GRCh38 Chromosome 17, 41567625: 41567625
28 KRT9 NM_000226.3(KRT9): c.1407A> T (p.Gly469=) single nucleotide variant Likely benign rs3890472 GRCh37 Chromosome 17, 39723990: 39723990
29 KRT9 NM_000226.3(KRT9): c.1407A> T (p.Gly469=) single nucleotide variant Likely benign rs3890472 GRCh38 Chromosome 17, 41567738: 41567738
30 KRT9 NM_000226.3(KRT9): c.1394T> G (p.Phe465Cys) single nucleotide variant Uncertain significance rs753893753 GRCh37 Chromosome 17, 39724414: 39724414
31 KRT9 NM_000226.3(KRT9): c.1394T> G (p.Phe465Cys) single nucleotide variant Uncertain significance rs753893753 GRCh38 Chromosome 17, 41568162: 41568162
32 KRT9 NM_000226.3(KRT9): c.644T> C (p.Ile215Thr) single nucleotide variant Uncertain significance rs886052912 GRCh38 Chromosome 17, 41570219: 41570219
33 KRT9 NM_000226.3(KRT9): c.644T> C (p.Ile215Thr) single nucleotide variant Uncertain significance rs886052912 GRCh37 Chromosome 17, 39726471: 39726471
34 KRT9 NM_000226.3(KRT9): c.351T> C (p.Gly117=) single nucleotide variant Uncertain significance rs115965791 GRCh38 Chromosome 17, 41571642: 41571642
35 KRT9 NM_000226.3(KRT9): c.351T> C (p.Gly117=) single nucleotide variant Uncertain significance rs115965791 GRCh37 Chromosome 17, 39727894: 39727894
36 KRT9 NM_000226.3(KRT9): c.245G> A (p.Ser82Asn) single nucleotide variant Uncertain significance rs148867398 GRCh38 Chromosome 17, 41571748: 41571748
37 KRT9 NM_000226.3(KRT9): c.245G> A (p.Ser82Asn) single nucleotide variant Uncertain significance rs148867398 GRCh37 Chromosome 17, 39728000: 39728000
38 KRT9 NM_000226.3(KRT9): c.72C> T (p.Ser24=) single nucleotide variant Uncertain significance rs369925340 GRCh38 Chromosome 17, 41571921: 41571921
39 KRT9 NM_000226.3(KRT9): c.72C> T (p.Ser24=) single nucleotide variant Uncertain significance rs369925340 GRCh37 Chromosome 17, 39728173: 39728173
40 KRT9 NM_000226.3(KRT9): c.-31G> A single nucleotide variant Uncertain significance rs376504688 GRCh38 Chromosome 17, 41572023: 41572023
41 KRT9 NM_000226.3(KRT9): c.-31G> A single nucleotide variant Uncertain significance rs376504688 GRCh37 Chromosome 17, 39728275: 39728275
42 KRT9 NM_000226.3(KRT9): c.1839C> T (p.Tyr613=) single nucleotide variant Uncertain significance rs142173628 GRCh38 Chromosome 17, 41567306: 41567306
43 KRT9 NM_000226.3(KRT9): c.1839C> T (p.Tyr613=) single nucleotide variant Uncertain significance rs142173628 GRCh37 Chromosome 17, 39723558: 39723558
44 KRT9 NM_000226.3(KRT9): c.1594G> A (p.Gly532Ser) single nucleotide variant Uncertain significance rs372549420 GRCh37 Chromosome 17, 39723803: 39723803
45 KRT9 NM_000226.3(KRT9): c.1594G> A (p.Gly532Ser) single nucleotide variant Uncertain significance rs372549420 GRCh38 Chromosome 17, 41567551: 41567551
46 KRT9 NM_000226.3(KRT9): c.1560C> T (p.Tyr520=) single nucleotide variant Uncertain significance rs116616468 GRCh37 Chromosome 17, 39723837: 39723837
47 KRT9 NM_000226.3(KRT9): c.1560C> T (p.Tyr520=) single nucleotide variant Uncertain significance rs116616468 GRCh38 Chromosome 17, 41567585: 41567585
48 KRT9 NM_000226.3(KRT9): c.1519G> C (p.Gly507Arg) single nucleotide variant Uncertain significance rs144649847 GRCh37 Chromosome 17, 39723878: 39723878
49 KRT9 NM_000226.3(KRT9): c.1519G> C (p.Gly507Arg) single nucleotide variant Uncertain significance rs144649847 GRCh38 Chromosome 17, 41567626: 41567626
50 KRT9 NM_000226.3(KRT9): c.1336C> T (p.Arg446Trp) single nucleotide variant Uncertain significance rs201551901 GRCh37 Chromosome 17, 39724472: 39724472

Expression for Palmoplantar Keratoderma, Epidermolytic

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

Pathways for Palmoplantar Keratoderma, Epidermolytic

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 EVPL KRT1 KRT16 KRT17 KRT9
2
Show member pathways
12.3 KRT16 KRT17 KRT9
3
Show member pathways
11.48 EVPL KRT1 KRT16 KRT17 KRT9
4
Show member pathways
11.29 EVPL KRT1 KRT16 KRT17

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 9.72 EVPL KRT1 KRT16 KRT17 KRT9
2 extracellular exosome GO:0070062 9.35 EVPL KRT1 KRT16 KRT17 KRT9
3 cornified envelope GO:0001533 9.26 EVPL KRT1
4 intermediate filament cytoskeleton GO:0045111 9.16 EVPL KRT17
5 intermediate filament GO:0005882 8.92 KRT1 KRT16 KRT17 KRT9

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 9.46 EVPL KRT16 KRT17 KRT9
2 keratinocyte differentiation GO:0030216 9.37 EVPL KRT16
3 keratinization GO:0031424 9.35 EVPL KRT1 KRT16 KRT17 KRT9
4 peptide cross-linking GO:0018149 9.32 EVPL KRT1
5 intermediate filament organization GO:0045109 9.26 KRT17 KRT9
6 cornification GO:0070268 9.02 EVPL KRT1 KRT16 KRT17 KRT9

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 9.13 KRT16 KRT17 KRT9
2 structural molecule activity GO:0005198 8.92 EVPL KRT1 KRT16 KRT17

Sources for Palmoplantar Keratoderma, Epidermolytic

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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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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