MCID: PLM136
MIFTS: 26

Palmoplantar Keratoderma, Nonepidermolytic malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

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Disease Ontology:10 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.

MalaCards based summary: Palmoplantar Keratoderma, Nonepidermolytic, also known as nonepidermolytic palmoplantar keratoderma, is related to keratoderma and autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering, and has symptoms including autosomal dominant inheritanceand nonepidermolytic palmoplantar keratoderma. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (keratin 1). Affiliated tissues include palms and soles.

Description from OMIM:47 600962

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

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Palmoplantar Keratoderma, Nonepidermolytic, Aliases & Descriptions:

Name: Palmoplantar Keratoderma, Nonepidermolytic 47 11
Nonepidermolytic Palmoplantar Keratoderma 10 12 24
Tylosis 10 43
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 43
Diffuse Nonepidermolytic Palmomplantar Keratoderma 10
Focal Non Epidermolytic Palmoplantar Keratoderma 43
 
Unna-Thost Syndrome 10
Thost-Unna Syndrome 10
Early Onset Tylosis 43
Late Onset Tylosis 43
Familial Tylosis 43


Classifications:

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


External Ids:

OMIM47 600962
Disease Ontology10 DOID:0050428
MeSH35 D015776

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic

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



Diseases related to palmoplantar keratoderma, nonepidermolytic

Symptoms for Palmoplantar Keratoderma, Nonepidermolytic

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Symptoms by clinical synopsis from OMIM:

600962

Clinical features from OMIM:

600962

HPO human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

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

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic

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Drug clinical trials:

Search ClinicalTrials for Palmoplantar Keratoderma, Nonepidermolytic

Search NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic

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Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic24

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

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FMA organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

16
Palms, Soles

Animal Models for Palmoplantar Keratoderma, Nonepidermolytic or affiliated genes

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Publications for Palmoplantar Keratoderma, Nonepidermolytic

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Variations for Palmoplantar Keratoderma, Nonepidermolytic

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

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

Clinvar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

7
id Gene Variation 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 Palmoplantar Keratoderma, Nonepidermolytic

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

Pathways for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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Compounds for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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GO Terms for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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Products for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Palmoplantar Keratoderma, Nonepidermolytic

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet