MCID: NNP003
MIFTS: 25

Nonepidermolytic Palmoplantar Keratoderma malady

Skin, Ear, Genetic categories

Summaries for Nonepidermolytic Palmoplantar Keratoderma

Sources:
47OMIM, 33MalaCards
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MalaCards: Nonepidermolytic Palmoplantar Keratoderma, also known as palmoplantar keratoderma, nonepidermolytic, is related to epidermolytic hyperkeratosis and keratoderma. An important gene associated with Nonepidermolytic Palmoplantar Keratoderma is KRT1 (keratin 1).

Description from OMIM:47 613000,600962

Aliases & Classifications for Nonepidermolytic Palmoplantar Keratoderma

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 61UMLS, 35MeSH
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Classifications:

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


Aliases & Descriptions:

nonepidermolytic palmoplantar keratoderma 8 10
palmoplantar keratoderma, nonepidermolytic 9 22 47 61
hyperkeratosis of the palms and soles and esophageal papillomas 43 61
tylosis 8 43
focal non epidermolytic palmoplantar keratoderma 43
keratoderma, palmoplantar, diffuse 61
unna-thost syndrome 8
thost-unna syndrome 8
early onset tylosis 43
late onset tylosis 43
familial tylosis 43
hyperkeratosis 61


External Ids:

Disease Ontology8 DOID:0050428
MeSH35 D015776

Related Diseases for Nonepidermolytic Palmoplantar Keratoderma

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Nonepidermolytic Palmoplantar Keratoderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 277)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolytic hyperkeratosis10.9
2keratoderma10.7
3hyperkeratosis lenticularis perstans10.6
4focal acral hyperkeratosis10.4
5tylosis with esophageal cancer10.4
6unna-thost palmoplantar keratoderma10.3
7diffuse palmoplantar keratoderma, bothnian type10.3
8palmoplantar keratoderma, epidermolytic10.3
9woolly hair syndrome10.3
10naxos disease10.3
11focal palmoplantar keratoderma10.3
12palmoplantar keratoderma, nonepidermolytic, focal10.3
13periodontosis10.3
14epidermolysis bullosa simplex10.2
15hyperkeratosis-hyperpigmentation syndrome10.2
16diffuse idiopathic skeletal hyperostosis10.2
17keratoderma palmoplantar deafness10.2
18acquired hyperkeratosis10.1
19congenital ichthyosiform erythroderma10.1
20erythrokeratodermia variabilis et progressiva10.1
21palmoplantar keratoderma, nagashima type10.1
22bart-pumphrey syndrome10.1
23papillon-lefevre disease10.1
24pityriasis rubra pilaris10.1
25tyrosinemia type ii10.1
26ectodermal dysplasia10.1
27kyrle disease10.1
28epidermal nevus10.1
29palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal10.1
30paraplegia - intellectual deficit - hyperkeratosis10.1
31arthrogryposis - hyperkeratosis, lethal form10.1
32dyskeratosis congenita10.0
33mongolian spot10.0
34alopecia10.0
35kindler syndrome10.0
36cardiomyopathy dilated with woolly hair and keratoderma10.0
37epidermolysis bullosa simplex, dowling-meara type10.0
38hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features10.0
39porokeratosis plantaris palmaris et disseminata10.0
40meleda disease10.0
41olmsted syndrome10.0
42syringomelia hyperkeratosis10.0
43krt1-related epidermolytic hyperkeratosis10.0
44ichthyosis, cyclic, with epidermolytic hyperkeratosis10.0
45autosomal dominant palmoplantar keratoderma and congenital alopecia10.0
46autosomal recessive palmoplantar keratoderma and congenital alopecia10.0
47hereditary palmoplantar keratoderma, gamborg-nielsen type10.0
48esophageal leukoplakia10.0
49birt-hogg-dube syndrome10.0
50familial melanoma10.0

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



Diseases related to nonepidermolytic palmoplantar keratoderma

Clinical Features for Nonepidermolytic Palmoplantar Keratoderma

Sources:
47OMIM
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Clinical features from OMIM:

613000,600962

Clinical synopsis from OMIM:

600962

Drugs & Therapeutics for Nonepidermolytic Palmoplantar Keratoderma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
22GTR
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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

Animal Models for Nonepidermolytic Palmoplantar Keratoderma or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Nonepidermolytic Palmoplantar Keratoderma

Sources:
51PubMed
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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

Genetic Variations for Nonepidermolytic Palmoplantar Keratoderma

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

63
id Symbol AA change Variation SNP ID
1KRT1p.Lys74IleVAR_017819rs57977969

Expression for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

GO Terms for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

Products for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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Sources for Nonepidermolytic Palmoplantar Keratoderma

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