EPPK
MCID: PLM102
MIFTS: 45

Palmoplantar Keratoderma, Epidermolytic (EPPK) malady

Skin diseases category

Summaries for Palmoplantar Keratoderma, Epidermolytic

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

MalaCards: Palmoplantar Keratoderma, Epidermolytic, also known as keratoderma, epidermolytic palmoplantar, is related to diffuse palmoplantar keratoderma, bothnian type and epidermolytic hyperkeratosis, 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 related mouse phenotype integument.

Description from OMIM:46 144200

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

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42NIH Rare Diseases, 46OMIM, 44Novoseek, 60UMLS, 48Orphanet, 20GeneTests, 22GTR, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

palmoplantar keratoderma, epidermolytic 42 46 44
keratoderma, epidermolytic palmoplantar 42 20 22
epidermolytic palmoplantar keratoderma vorner type 42 60
eppk 42 48
diffuse erythrodermic palmoplantar keratoderma, vörner type 48
diffuse erythrodermic palmoplantar keratoderma, voerner type 48
epidermolytic palmoplantar keratoderma of vörner 48
epidermolytic palmoplantar keratoderma of voerner 48
keratoderma, palmoplantar, epidermolytic 60
hyperkeratosis, localized epidermolytic 42
epidermolytic palmoplantar keratoderma 48
keratosis of greither 42


External Ids:

SNOMED-CT via Orphanet57 239071005
OMIM46 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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

144200

Clinical synopsis from OMIM:

144200

Symptoms:

48 (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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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

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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

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32MalaCards
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MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

32
Skin

Animal Models for Palmoplantar Keratoderma, Epidermolytic or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0KRT1, KRT16

Publications for Palmoplantar Keratoderma, Epidermolytic

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Genetic Variations for Palmoplantar Keratoderma, Epidermolytic

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

62 (show all 17)
id Symbol AA change Variation ID 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

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

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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

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44Novoseek, 11DrugBank
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Compounds related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1asparagine449.9KRT1
2sodium dodecylsulfate449.1KRT1, KRT16
3retinoid449.0KRT1, KRT16
4isotretinoin44 119.9KRT16, KRT1
5paraffin448.7KRT1, KRT16

GO Terms for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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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:0085449.1KRT16, KRT9
4cytoskeleton organizationGO:0070109.1KRT6C, KRT16

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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  • Antibodies
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Sources for Palmoplantar Keratoderma, Epidermolytic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet