MCID: NNP003
MIFTS: 48

Nonepidermolytic Palmoplantar Keratoderma malady

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

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Disease Ontology:8 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.

MalaCards based summary: Nonepidermolytic Palmoplantar Keratoderma, also known as palmoplantar keratoderma, nonepidermolytic, is related to palmoplantar keratoderma, epidermolytic and keratoderma, and has symptoms including 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 palms, soles and skin, and related mouse phenotype integument.

Descriptions from OMIM:46 615735,600962,613000

Aliases & Classifications for Nonepidermolytic Palmoplantar Keratoderma

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Nonepidermolytic Palmoplantar Keratoderma, Aliases & Descriptions:

Name: Nonepidermolytic Palmoplantar Keratoderma 8 10
Palmoplantar Keratoderma, Nonepidermolytic 9 22 46 62
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 42 62
Tylosis 8 42
Focal Non Epidermolytic Palmoplantar Keratoderma 42
Non-Epidermolytic Palmoplantar Keratoderma 48
Thost-Unna Palmoplantar Keratoderma 48
 
Keratoderma, Palmoplantar, Diffuse 62
Thost-Unna Syndrome 8
Unna-Thost Syndrome 8
Early Onset Tylosis 42
Late Onset Tylosis 42
Familial Tylosis 42
Hyperkeratosis 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050428
MeSH34 D015776

Related Diseases for Nonepidermolytic Palmoplantar Keratoderma

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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
1palmoplantar keratoderma, epidermolytic30.6KRT16, KRT1, EVPL
2keratoderma30.5KRT1, KRT16, DSP, DSG1
3palmoplantar keratoderma, nonepidermolytic, focal or diffuse10.5
4palmoplantar keratoderma, nonepidermolytic, focal10.5
5tylosis with esophageal cancer10.5
6epidermolytic acanthoma10.4KRT1
7arrhythmogenic right ventricular cardiomyopathy10.4
8diffuse palmoplantar keratoderma, bothnian type10.4
9naxos disease10.4
10unna-thost palmoplantar keratoderma10.4
11focal palmoplantar keratoderma10.4
12fibroma10.3KRT1
13brachial plexus neuropathy10.3SEC14L1, DNAH17
14hailey-hailey disease10.3DSP
15diffuse idiopathic skeletal hyperostosis10.3
16esophagitis10.3
17monilethrix10.2KRTAP11-1, KRT16
18pachyonychia congenita10.2KRT16, KRTAP11-1
19ichthyosis, cyclic, with epidermolytic hyperkeratosis10.2KRT1, KRT10
20bullous skin disease10.2EVPL, DSG1
21epidermolytic hyperkeratosis10.2KRT1, KRT10
22pemphigus foliaceus10.2EVPL, DSG1
23esophageal cancer10.2
24beardwell syndrome10.2
25leukoplakia10.2
26oral leukoplakia10.2
27steatocystoma multiplex10.2KRT16, KRT10
28congenital ichthyosiform erythroderma10.1KRT10, KRT1
29cholesteatoma10.1KRT10, KRT16
30bullous pemphigoid10.0DSP, EVPL
31beckwith-wiedemann syndrome10.0
32birt-hogg-dube syndrome10.0
33melanoma10.0
34supernumerary nipples10.0
35bowen syndrome10.0KRT16, KRT1, KRT10
36epidermolysis bullosa simplex10.0KRT10, KRT16, KRT1
37dermatitis10.0DSG1, KRT16
38lichen planus10.0KRT1, KRT16, KRT10
39thymoma9.9DSP, EVPL
40pemphigus9.9EVPL, DSG1, DSP
41pemphigus vulgaris9.9DSP, EVPL, DSG1
42psoriasis9.8KRT16, KRT1, KRT10
43sarcoma9.7EVPL, DSG1, DSP
44keratosis9.6KRT10, KRT1, KRT16, DSP
45hypersensitivity reaction type ii disease9.6DSG1, EVPL, DSP
46palmoplantar keratosis9.4KRT10, DSG1, DSP, KRT1, KRT16
47skin disease9.4KRT10, KRT16, KRT1, DSP, DSG1
48tongue squamous cell carcinoma9.3KRT16, 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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Symptoms by clinical synopsis from OMIM:

600962

Clinical features from OMIM:

615735,600962,613000

HPO human phenotypes related to Nonepidermolytic Palmoplantar Keratoderma:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nonepidermolytic palmoplantar keratoderma HP:0007404

Drugs & Therapeutics for Nonepidermolytic Palmoplantar Keratoderma

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Drug clinical trials:

Search ClinicalTrials for Nonepidermolytic Palmoplantar Keratoderma

Search NIH Clinical Center for Nonepidermolytic Palmoplantar Keratoderma

Genetic Tests for Nonepidermolytic Palmoplantar Keratoderma

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Genetic tests related to Nonepidermolytic Palmoplantar Keratoderma:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic22

Anatomical Context for Nonepidermolytic Palmoplantar Keratoderma

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MalaCards organs/tissues related to Nonepidermolytic Palmoplantar Keratoderma:

32
Skin

FMA organs/tissues related to Nonepidermolytic Palmoplantar Keratoderma:

14
Palms, Soles

Animal Models for Nonepidermolytic Palmoplantar Keratoderma or affiliated genes

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MGI Mouse Phenotypes related to Nonepidermolytic Palmoplantar Keratoderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8KRT16, KRT1, KRT10, EVPL, DSP

Publications for Nonepidermolytic Palmoplantar Keratoderma

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

64
id Symbol AA change Variation ID SNP ID
1KRT1p.Lys74IleVAR_017819rs57977969

Clinvar genetic disease variations for Nonepidermolytic Palmoplantar Keratoderma:

6
id Gene Name Type Significance SNP ID Assembly Location
1KRT1NM_006121.3(KRT1): c.221A> T (p.Lys74Ile)single nucleotide variantPathogenicrs57977969GRCh37Chr 12, 53073912: 53073912
2KRT1KRT1, IVS1, T-A, +2single nucleotide variantPathogenic
3KRT1KRT1, 24-BP DEL, NT1376deletionPathogenic

Expression for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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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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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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Sources:
44Novoseek, 11DrugBank, 61Tocris Bioscience, 28IUPHAR, 24HMDB
See all sources

Compounds related to Nonepidermolytic Palmoplantar Keratoderma according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1tazarotene44 1111.1KRT1, KRT10
2dithranol4410.0KRT10, KRT16
3calcipotriol44 61 28 1113.0KRT16, KRT10
4isoleucine449.9KRT1, KRT10
5hematoxylin449.9KRT1, KRT10
6isotretinoin44 1110.8KRT16, KRT1, KRT10
7retinoid449.7KRT10, KRT1, KRT16
8paraffin449.4KRT10, KRT1, KRT16
9steroid449.3DSP, KRT10, KRT1, KRT16
10proline449.2KRT16, KRT1, KRT10
11retinoic acid44 2410.0KRT16, KRT1, KRT10, DSG1, DSP
12serine448.8KRT16, KRT1, KRT10, DSG1, DSP

GO Terms for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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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

Sources for Nonepidermolytic Palmoplantar Keratoderma

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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