EPPK
MCID: PLM102
MIFTS: 41

Palmoplantar Keratoderma, Epidermolytic (EPPK) malady

Skin category

Summaries for Palmoplantar Keratoderma, Epidermolytic

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64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

MalaCards: Palmoplantar Keratoderma, Epidermolytic, also known as keratoderma, epidermolytic palmoplantar, is related to keratoderma and diffuse palmoplantar keratoderma, bothnian type, and has symptoms including hyperhidrosis/increased sweating, autosomal dominant inheritance and hyperkeratosis/ainhum/hyperkeratotic skin fissures. An important gene associated with Palmoplantar Keratoderma, Epidermolytic is KRT9 (keratin 9), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The compounds asparagine and sodium dodecylsulfate have been mentioned in the context of this disorder. Affiliated tissues include skin and breast, and related mouse phenotype integument.

Description from OMIM:47 144200

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 61UMLS, 49Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Aliases & Descriptions:

palmoplantar keratoderma, epidermolytic 43 47 45
keratoderma, epidermolytic palmoplantar 43 20 22
epidermolytic palmoplantar keratoderma vorner type 43 61
eppk 43 49
diffuse erythrodermic palmoplantar keratoderma, vörner type 49
diffuse erythrodermic palmoplantar keratoderma, voerner type 49
epidermolytic palmoplantar keratoderma of vörner 49
epidermolytic palmoplantar keratoderma of voerner 49
keratoderma, palmoplantar, epidermolytic 61
hyperkeratosis, localized epidermolytic 43
epidermolytic palmoplantar keratoderma 49
keratosis of greither 43


External Ids:

OMIM47 144200
ICD10 via Orphanet26 Q82.8

Related Diseases for Palmoplantar Keratoderma, Epidermolytic

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Epidermolytic:



Diseases related to palmoplantar keratoderma, epidermolytic

Clinical Features for Palmoplantar Keratoderma, Epidermolytic

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

144200

Clinical synopsis from OMIM:

144200

Symptoms:

49 (show all 8)
  • hyperhidrosis/increased sweating
  • autosomal dominant inheritance
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • warts/papillomas
  • palmoplantar hyperkeratosis/keratoderma
  • eczema
  • abnormal fingernails

Drugs & Therapeutics for Palmoplantar Keratoderma, Epidermolytic

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Palmoplantar Keratoderma, Epidermolytic

Drug clinical trials:

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Search NIH Clinical Center for Palmoplantar Keratoderma, Epidermolytic

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Genetic Tests for Palmoplantar Keratoderma, Epidermolytic

Sources:
20GeneTests, 22GTR
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Genetic tests related to Palmoplantar Keratoderma, Epidermolytic:

id Genetic test Affiliating Genes
1 Epidermolytic Palmoplantar Keratoderma20 22 KRT9

Anatomical Context for Palmoplantar Keratoderma, Epidermolytic

Sources:
33MalaCards
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MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

33
Skin, Breast

Animal Models for Palmoplantar Keratoderma, Epidermolytic or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0KRT1, KRT16

Publications for Palmoplantar Keratoderma, Epidermolytic

Sources:
51PubMed
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Articles related to Palmoplantar Keratoderma, Epidermolytic:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Diffuse non-epidermolytic palmoplantar keratoderma. (24222295)
2013
2
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. (23278372)
2013
3
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. (22262370)
2012
4
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). (23144341)
2012
5
Case of epidermolytic palmoplantar keratoderma with knuckle pads. (21463360)
2012
6
Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma. (21489919)
2011
7
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. (19874353)
2010
8
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. (17362238)
2009
9
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. (19443303)
2009
10
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. (18477167)
2008
11
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. (18360110)
2008
12
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads. (17074468)
2007
13
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. (16439967)
2006
14
L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. (16911293)
2006
15
A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. (15605275)
2005
16
Diagnosis of epidermolytic palmoplantar keratoderma in a very early stage by gene analysis. (16361744)
2005
17
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. (15214894)
2004
18
Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma]. (15583984)
2004
19
Present status of the molecular genetics in epidermolytic palmoplantar keratoderma]. (15300637)
2004
20
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. (15099359)
2004
21
Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report. (15538081)
2004
22
De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma. (14517588)
2003
23
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. (12838553)
2003
24
Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. (14675368)
2003
25
Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. (12192490)
2002
26
A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma. (12532041)
2002
27
Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene. (10844507)
2000
28
Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins. (10536965)
1999
29
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. (9738775)
1998
30
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. (9856842)
1998
31
Hereditary epidermolytic palmoplantar keratoderma (VAPrner type) in a family with Ehlers-Danlos syndrome. (9591795)
1998
32
Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. (9833037)
1998
33
A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. (9204965)
1997
34
A child with unusual palms and soles. Epidermolytic palmoplantar keratoderma (PPK) of VAPrner. (8961887)
1996
35
Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. (8647270)
1996
36
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. (7544664)
1995
37
Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. (7532198)
1995
38
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. (7516304)
1994
39
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. (7511021)
1994
40
Topical calcipotriol in the treatment of epidermolytic palmoplantar keratoderma of VAPrner. (8186131)
1994
41
Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. (1385292)
1992
42
Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints. (1751358)
1991
43
Autosomal recessive epidermolytic palmoplantar keratoderma. (2145438)
1990
44
Epidermolytic hereditary palmoplantar keratoderma. Histologic, ultrastructural, protein-chemical, and DNA analyses in two patients. (2451476)
1988
45
Epidermolytic palmoplantar keratoderma of VAPrner: is it the most frequent type of hereditary palmoplantar keratoderma? (2971584)
1988
46
Hereditary epidermolytic palmoplantar keratoderma (VAPrner type). Report of a familial case and review of the literature. (2958520)
1987
47
Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. (2960371)
1987
48
Epidermolytic variant of hereditary palmoplantar keratoderma. (3155959)
1985
49
Hereditary epidermolytic palmoplantar keratoderma. (6452099)
1981
50
Epidermolytic hereditary palmoplantar keratoderma. Report of a family and treatment with an oral aromatic retinoid. (152116)
1978

Genetic Variations for Palmoplantar Keratoderma, Epidermolytic

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

63 (show all 17)
id Symbol AA change Variation SNP ID
1KRT9p.Asn161LysVAR_003822rs57536312
2KRT9p.Arg163GlnVAR_003823rs57758262
3KRT9p.Arg163TrpVAR_003824rs59616921
4KRT9p.Leu168SerVAR_003825rs61157095
5KRT9p.Met157ThrVAR_010499rs59510579
6KRT9p.Met157ValVAR_010500rs58597584
7KRT9p.Leu160ValVAR_010501
8KRT9p.Asn161SerVAR_010502rs56707768
9KRT9p.Asn161TyrVAR_010503rs59296273
10KRT9p.Gln172ProVAR_010504rs59878153
11KRT9p.Leu160PheVAR_035438rs28940896
12KRT9p.Val171MetVAR_035439rs57019720
13KRT9p.Met157ArgVAR_036805
14KRT9p.Asn161HisVAR_036806
15KRT9p.Asn161IleVAR_036807
16KRT9p.Arg163ProVAR_036808
17KRT9p.Leu458PheVAR_036810rs58120120

Expression for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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

Pathways for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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12EMD Millipore
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Pathways related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5KRT1, KRT16, KRT6C

Compounds for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

Sources:
45Novoseek, 11DrugBank
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Compounds related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1asparagine459.9KRT1
2sodium dodecylsulfate459.1KRT1, KRT16
3retinoid459.0KRT1, KRT16
4isotretinoin45 119.9KRT16, KRT1
5paraffin458.7KRT1, KRT16

GO Terms for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

Sources:
16Gene Ontology
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Cellular components related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.3KRT1, KRT6C
2intermediate filamentGO:0058828.3KRT9, KRT16, KRT6C

Biological processes related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:03142410.2
2intermediate filament organizationGO:0451099.9KRT9
3epidermis developmentGO:0085449.1KRT9, KRT16
4cytoskeleton organizationGO:0070109.1KRT16, KRT6C

Molecular functions related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.3KRT1, KRT6C
2structural constituent of cytoskeletonGO:0052008.8KRT9, KRT16

Products for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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Sources for Palmoplantar Keratoderma, Epidermolytic

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet