MCID: NNP003
MIFTS: 43

Nonepidermolytic Palmoplantar Keratoderma malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Nonepidermolytic Palmoplantar Keratoderma

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48OMIM, 34MalaCards
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MalaCards: Nonepidermolytic Palmoplantar Keratoderma, also known as palmoplantar keratoderma, nonepidermolytic, is related to keratoderma and palmoplantar keratoderma, epidermolytic. An important gene associated with Nonepidermolytic Palmoplantar Keratoderma is KRT1 (keratin 1), and among its related pathways are Staphylococcus aureus infection and Apoptotic cleavage of cellular proteins. The compounds tazarotene and dithranol have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype integument.

Description from OMIM:48 613000,600962

Aliases & Classifications for Nonepidermolytic Palmoplantar Keratoderma

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9Disease Ontology, 11DISEASES, 44NIH Rare Diseases, 10diseasecard, 23GTR, 48OMIM, 63UMLS, 36MeSH
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Classifications:

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


Aliases & Descriptions:

nonepidermolytic palmoplantar keratoderma 9 11
palmoplantar keratoderma, nonepidermolytic 10 23 48 63
hyperkeratosis of the palms and soles and esophageal papillomas 44 63
tylosis 9 44
focal non epidermolytic palmoplantar keratoderma 44
keratoderma, palmoplantar, diffuse 63
unna-thost syndrome 9
thost-unna syndrome 9
early onset tylosis 44
late onset tylosis 44
familial tylosis 44
hyperkeratosis 63


External Ids:

Disease Ontology9 DOID:0050428
MeSH36 D015776

Related Diseases for Nonepidermolytic Palmoplantar Keratoderma

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18GeneCards, 19GeneDecks
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Diseases related to Nonepidermolytic Palmoplantar Keratoderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1keratoderma31.0KRT1, KRT16, DSP, DSG1
2palmoplantar keratoderma, epidermolytic30.6KRT16, KRT1, EVPL
3autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering10.6
4palmoplantar keratoderma, nonepidermolytic, focal or diffuse10.5
5palmoplantar keratoderma, nonepidermolytic, focal10.5
6tylosis with esophageal cancer10.5
7diffuse palmoplantar keratoderma, bothnian type10.4
8naxos disease10.4
9unna-thost palmoplantar keratoderma10.4
10focal palmoplantar keratoderma10.4
11diffuse idiopathic skeletal hyperostosis10.2
12esophagitis10.2
13esophageal cancer10.2
14leukoplakia10.2
15oral leukoplakia10.2
16epidermolytic acanthoma10.1KRT1
17fibroma10.1KRT1
18brachial plexus neuropathy10.1SEC14L1, DNAH17
19hailey-hailey disease10.1DSP
20monilethrix10.1KRTAP11-1, KRT16
21pachyonychia congenita10.0KRT16, KRTAP11-1
22ichthyosis, cyclic, with epidermolytic hyperkeratosis10.0KRT1, KRT10
23bullous skin disease10.0EVPL, DSG1
24epidermolytic hyperkeratosis10.0KRT1, KRT10
25pemphigus foliaceus10.0EVPL, DSG1
26steatocystoma multiplex10.0KRT16, KRT10
27congenital ichthyosiform erythroderma10.0KRT10, KRT1
28cholesteatoma10.0KRT10, KRT16
29bullous pemphigoid10.0DSP, EVPL
30beckwith-wiedemann syndrome10.0
31birt-hogg-dube syndrome10.0
32melanoma10.0
33beardwell syndrome10.0
34supernumerary nipples10.0
35bowen syndrome10.0KRT16, KRT1, KRT10
36epidermolysis bullosa simplex10.0KRT10, KRT16, KRT1
37dermatitis10.0DSG1, KRT16
38lichen planus10.0KRT1, KRT16, KRT10
39thymoma10.0DSP, EVPL
40pemphigus10.0EVPL, DSG1, DSP
41pemphigus vulgaris10.0DSP, EVPL, DSG1
42psoriasis10.0KRT16, KRT1, KRT10
43sarcoma9.9EVPL, DSG1, DSP
44keratosis9.9KRT10, KRT1, KRT16, DSP
45hypersensitivity reaction type ii disease9.9DSG1, EVPL, DSP
46palmoplantar keratosis9.8KRT10, DSG1, DSP, KRT1, KRT16
47skin disease9.8KRT10, KRT16, KRT1, DSP, DSG1
48tongue squamous cell carcinoma9.8KRT16, KRT1, KRT10, DSP, DSG1

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



Diseases related to nonepidermolytic palmoplantar keratoderma

Symptoms for Nonepidermolytic Palmoplantar Keratoderma

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48OMIM
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Symptoms by clinical synopsis from OMIM:

600962

Clinical features from OMIM:

613000,600962

Drugs & Therapeutics for Nonepidermolytic Palmoplantar Keratoderma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Nonepidermolytic Palmoplantar Keratoderma

Drug clinical trials:

Search ClinicalTrials for Nonepidermolytic Palmoplantar Keratoderma

Search NIH Clinical Center for Nonepidermolytic Palmoplantar Keratoderma

Search CenterWatch for Nonepidermolytic Palmoplantar Keratoderma

Genetic Tests for Nonepidermolytic Palmoplantar Keratoderma

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23GTR
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Genetic tests related to Nonepidermolytic Palmoplantar Keratoderma:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic23

Anatomical Context for Nonepidermolytic Palmoplantar Keratoderma

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34MalaCards
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MalaCards organs/tissues related to Nonepidermolytic Palmoplantar Keratoderma:

34
Skin

Animal Models for Nonepidermolytic Palmoplantar Keratoderma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Nonepidermolytic Palmoplantar Keratoderma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8KRT16, KRT1, KRT10, EVPL, DSP

Publications for Nonepidermolytic Palmoplantar Keratoderma

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53PubMed
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Articles related to Nonepidermolytic Palmoplantar Keratoderma:

idTitleAuthorsYear
1
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. (23830519)
2013
2
What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). (20486455)
2010
3
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. (15897387)
2005
4
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. (9610536)
1998
5
A novel nonepidermolytic palmoplantar keratoderma: a clinical and histopathologic study of six cases. (9216520)
1997
6
Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families. (8595410)
1995

Variations for Nonepidermolytic Palmoplantar Keratoderma

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Nonepidermolytic Palmoplantar Keratoderma:

65
id Symbol AA change Variation ID SNP ID
1KRT1p.Lys74IleVAR_017819rs57977969

Clinvar genetic disease variations for Nonepidermolytic Palmoplantar Keratoderma:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRT1NM_006121.3(KRT1): c.221A> T (p.Lys74Ile)single nucleotide variantPathogenicrs57977969GRCh37Chr 12, 53073912: 53073912

Expression for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

Search GEO for disease gene expression data for Nonepidermolytic Palmoplantar Keratoderma.

Pathways for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters
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Pathways related to Nonepidermolytic Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KRT10, DSG1
2
Show member pathways
9.7DSG1, DSP
39.2KRT16, KRT1, EVPL, DSP

Compounds for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Nonepidermolytic Palmoplantar Keratoderma according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1tazarotene46 1211.1KRT1, KRT10
2dithranol4610.0KRT10, KRT16
3calcipotriol46 62 30 1213.0KRT10, KRT16
4isoleucine469.9KRT10, KRT1
5hematoxylin469.9KRT10, KRT1
6isotretinoin46 1210.8KRT10, KRT16, KRT1
7retinoid469.7KRT10, KRT1, KRT16
8paraffin469.4KRT16, KRT1, KRT10
9steroid469.3KRT16, KRT1, KRT10, DSP
10proline469.2KRT1, KRT16, KRT10
11retinoic acid46 2510.0KRT16, DSP, DSG1, KRT10, KRT1
12serine468.8KRT16, KRT1, KRT10, DSP, DSG1

GO Terms for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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17Gene Ontology
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Cellular components related to Nonepidermolytic Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015339.8EVPL, DSP
2desmosomeGO:0300579.5EVPL, DSG1, DSP
3keratin filamentGO:0450959.3KRT10, KRT1, KRTAP11-1
4intermediate filamentGO:0058829.1KRT16, KRT10, DSP
5extracellular vesicular exosomeGO:0700628.5AQP5, DSP, EVPL, KRT10, KRT1, KRT16

Biological processes related to Nonepidermolytic Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular component disassembly involved in execution phase of apoptosisGO:0069219.7DSG1, DSP
2peptide cross-linkingGO:0181499.5EVPL, DSP
3keratinocyte differentiationGO:0302169.5KRT10, EVPL, DSP
4epidermis developmentGO:0085449.3DSP, EVPL, KRT16

Molecular functions related to Nonepidermolytic Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.8EVPL, DSP
2structural molecule activityGO:0051988.8KRTAP11-1, KRT1, EVPL, DSP

Products for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nonepidermolytic Palmoplantar Keratoderma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet