MCID: NNP003
MIFTS: 31

Nonepidermolytic Palmoplantar Keratoderma malady

Skin diseases, Ear diseases, Genetic diseases categories

Summaries for Nonepidermolytic Palmoplantar Keratoderma

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46OMIM, 32MalaCards
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MalaCards: Nonepidermolytic Palmoplantar Keratoderma, also known as palmoplantar keratoderma, nonepidermolytic, is related to epidermolytic hyperkeratosis and palmoplantar keratoderma, nonepidermolytic, focal. An important gene associated with Nonepidermolytic Palmoplantar Keratoderma is KRT1 (keratin 1).

Description from OMIM:46 613000,600962

Aliases & Classifications for Nonepidermolytic Palmoplantar Keratoderma

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8Disease Ontology, 10DISEASES, 42NIH Rare Diseases, 9diseasecard, 22GTR, 46OMIM, 60UMLS, 34MeSH
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Classifications:

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


Aliases & Descriptions:

nonepidermolytic palmoplantar keratoderma 8 10
palmoplantar keratoderma, nonepidermolytic 9 22 46 60
hyperkeratosis of the palms and soles and esophageal papillomas 42 60
tylosis 8 42
focal non epidermolytic palmoplantar keratoderma 42
keratoderma, palmoplantar, diffuse 60
unna-thost syndrome 8
thost-unna syndrome 8
early onset tylosis 42
late onset tylosis 42
familial tylosis 42
hyperkeratosis 60


External Ids:

Disease Ontology8 DOID:0050428
MeSH34 D015776

Related Diseases for Nonepidermolytic Palmoplantar Keratoderma

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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 267)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolytic hyperkeratosis10.9
2palmoplantar keratoderma, nonepidermolytic, focal10.5
3tylosis with esophageal cancer10.4
4hair disease10.3
5unna-thost palmoplantar keratoderma10.3
6diffuse palmoplantar keratoderma, bothnian type10.3
7palmoplantar keratoderma, epidermolytic10.3
8focal palmoplantar keratoderma10.3
9periodontosis10.3
10hyperkeratosis lenticularis perstans10.2
11palmoplantar keratosis10.2
12diffuse idiopathic skeletal hyperostosis10.2
13esophagitis10.2
14epidermolysis bullosa simplex10.2
15epidermolysis bullosa10.1
16keratosis10.1
17erythrokeratodermia variabilis et progressiva10.1
18keratoderma palmoplantar deafness10.1
19hyperkeratosis-hyperpigmentation syndrome10.1
20esophageal cancer10.1
21acquired hyperkeratosis10.1
22congenital ichthyosiform erythroderma10.1
23palmoplantar keratoderma, nagashima type10.1
24bart-pumphrey syndrome10.1
25papillon-lefevre disease10.1
26pityriasis rubra pilaris10.1
27tyrosinemia type ii10.1
28palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal10.1
29paraplegia - intellectual deficit - hyperkeratosis10.1
30arthrogryposis - hyperkeratosis, lethal form10.1
31focal acral hyperkeratosis10.1
32clouston syndrome10.0
33dyskeratosis congenita10.0
34mongolian spot10.0
35alopecia10.0
36kindler syndrome10.0
37cardiomyopathy dilated with woolly hair and keratoderma10.0
38epidermolysis bullosa simplex, dowling-meara type10.0
39hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features10.0
40porokeratosis plantaris palmaris et disseminata10.0
41meleda disease10.0
42olmsted syndrome10.0
43syringomelia 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

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46OMIM
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Clinical features from OMIM:

613000,600962

Clinical synopsis from OMIM:

600962

Drugs & Therapeutics for Nonepidermolytic Palmoplantar Keratoderma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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

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Animal Models for Nonepidermolytic Palmoplantar Keratoderma or affiliated genes

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Publications for Nonepidermolytic Palmoplantar Keratoderma

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50PubMed
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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

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

62
id Symbol AA change Variation ID SNP ID
1KRT1p.Lys74IleVAR_017819rs57977969

Expression for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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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

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Compounds for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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GO Terms for genes affiliated with Nonepidermolytic Palmoplantar Keratoderma

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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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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