EPPK
MCID: PLM102
MIFTS: 45

Palmoplantar Keratoderma, Epidermolytic (EPPK) malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Palmoplantar Keratoderma, Epidermolytic

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Wikipedia:65 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

MalaCards based summary: Palmoplantar Keratoderma, Epidermolytic, also known as keratoderma, epidermolytic palmoplantar, is related to nonepidermolytic palmoplantar keratoderma and keratoderma, and has symptoms including hyperkeratosis/ainhum/hyperkeratotic skin fissures, palmoplantar hyperkeratosis/keratoderma and erythema/erythematous lesions/erythroderma/polymorphous erythema. An important gene associated with Palmoplantar Keratoderma, Epidermolytic is KRT9 (keratin 9), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The compounds isotretinoin and asparagine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and integument.

Description from OMIM:46 144200

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Palmoplantar Keratoderma, Epidermolytic, Aliases & Descriptions:

Name: Palmoplantar Keratoderma, Epidermolytic 42 46 44
Keratoderma, Epidermolytic Palmoplantar 42 20 22
Epidermolytic Palmoplantar Keratoderma Vorner Type 42 62
Keratosis Palmaris Et Plantaris Familiaris 42 62
Keratosis of Greither 42 62
Eppk 42 48
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type 48
 
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type 48
Epidermolytic Palmoplantar Keratoderma of Voerner 48
Epidermolytic Palmoplantar Keratoderma of Vörner 48
Keratoderma, Palmoplantar, Epidermolytic 62
Hyperkeratosis, Localized Epidermolytic 42
Epidermolytic Palmoplantar Keratoderma 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


External Ids:

OMIM46 144200
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet63 C0343110, C1721006, C2931735

Related Diseases for Palmoplantar Keratoderma, Epidermolytic

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



Diseases related to palmoplantar keratoderma, epidermolytic

Symptoms for Palmoplantar Keratoderma, Epidermolytic

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Symptoms by clinical synopsis from OMIM:

144200

Clinical features from OMIM:

144200

Symptoms:

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

HPO human phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

(show all 9)
id Description Frequency HPO Source Accession
1 palmoplantar keratoderma hallmark (90%) HP:0000982
2 verrucae hallmark (90%) HP:0200043
3 eczema typical (50%) HP:0000964
4 hyperhidrosis typical (50%) HP:0000975
5 abnormality of the fingernails typical (50%) HP:0001231
6 autosomal dominant inheritance HP:0000006
7 palmoplantar hyperkeratosis HP:0000972
8 increased ige level HP:0003212
9 localized epidermolytic hyperkeratosis HP:0007559

Drugs & Therapeutics for Palmoplantar Keratoderma, Epidermolytic

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Drug clinical trials:

Search ClinicalTrials for Palmoplantar Keratoderma, Epidermolytic

Search NIH Clinical Center for Palmoplantar Keratoderma, Epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Epidermolytic

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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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MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

32
Skin

Animal Models for Palmoplantar Keratoderma, Epidermolytic or affiliated genes

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MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0KRT9, KRT1, KRT17
2MP:00107717.2KRT16, KRT9, KRT1, KRT17, EVPL

Publications for Palmoplantar Keratoderma, Epidermolytic

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Variations for Palmoplantar Keratoderma, Epidermolytic

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

64 (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

Clinvar genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1KRT1KRT1, IVS6, G-A, +1single nucleotide variantPathogenic
2KRT9NM_000226.3(KRT9): c.487C> T (p.Arg163Trp)single nucleotide variantPathogenicrs59616921GRCh37Chr 17, 39727758: 39727758
3KRT9NM_000226.3(KRT9): c.515A> C (p.Gln172Pro)single nucleotide variantPathogenicrs59878153GRCh37Chr 17, 39727730: 39727730
4KRT9NM_000226.3(KRT9): c.481A> T (p.Asn161Tyr)single nucleotide variantPathogenicrs59296273GRCh37Chr 17, 39727764: 39727764
5KRT9NM_000226.3(KRT9): c.483T> A (p.Asn161Lys)single nucleotide variantPathogenicrs57536312GRCh37Chr 17, 39727762: 39727762
6KRT9NM_000226.3(KRT9): c.488G> A (p.Arg163Gln)single nucleotide variantPathogenicrs57758262GRCh37Chr 17, 39727757: 39727757
7KRT9NM_000226.3(KRT9): c.469A> G (p.Met157Val)single nucleotide variantPathogenicrs58597584GRCh37Chr 17, 39727776: 39727776
8KRT9NM_000226.3(KRT9): c.482A> G (p.Asn161Ser)single nucleotide variantPathogenicrs56707768GRCh37Chr 17, 39727763: 39727763
9KRT9NM_000226.3(KRT9): c.503T> C (p.Leu168Ser)single nucleotide variantPathogenicrs61157095GRCh37Chr 17, 39727742: 39727742
10KRT9NM_000226.3(KRT9): c.478C> G (p.Leu160Val)single nucleotide variantPathogenicrs28940896GRCh37Chr 17, 39727767: 39727767
11KRT9NM_000226.3(KRT9): c.470T> C (p.Met157Thr)single nucleotide variantPathogenicrs59510579GRCh37Chr 17, 39727775: 39727775
12KRT9NM_000226.3(KRT9): c.511G> A (p.Val171Met)single nucleotide variantPathogenicrs57019720GRCh37Chr 17, 39727734: 39727734

Expression for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.0KRT16, KRT1, KRT17, EVPL

Compounds for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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Sources:
44Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isotretinoin44 1110.4KRT16, KRT1
2asparagine449.3KRT1, KRT17
3sodium dodecylsulfate449.0KRT16, KRT1, KRT17
4retinoid448.9KRT16, KRT1, KRT17
5paraffin448.8KRT17, KRT1, KRT16
6serine448.8KRT16, KRT1, KRT17
7retinoic acid44 249.5KRT16, KRT1, KRT17

GO Terms for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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Cellular components related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058828.9KRT16, KRT9, KRT17
2extracellular vesicular exosomeGO:0700627.2KRT16, KRT9, KRT1, KRT17, EVPL

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:0451099.2KRT9, KRT17
2keratinizationGO:0314249.1KRT17, EVPL
3epidermis developmentGO:0085448.0KRT16, KRT9, KRT17, EVPL

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1KRT1, EVPL
2structural constituent of cytoskeletonGO:0052008.6KRT16, KRT9, KRT17

Products for genes affiliated with Palmoplantar Keratoderma, Epidermolytic

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet