MCID: PLM136
MIFTS: 24

Palmoplantar Keratoderma, Nonepidermolytic malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

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Palmoplantar Keratoderma, Nonepidermolytic, Aliases & Descriptions:

Name: Palmoplantar Keratoderma, Nonepidermolytic 45 10 60
Nonepidermolytic Palmoplantar Keratoderma 9 11 22
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 41 60
Tylosis 9 41
Diffuse Nonepidermolytic Palmomplantar Keratoderma 9
Focal Non Epidermolytic Palmoplantar Keratoderma 41
Keratoderma, Palmoplantar, Diffuse 60
 
Thost-Unna Syndrome 9
Unna-Thost Syndrome 9
Early Onset Tylosis 41
Late Onset Tylosis 41
Familial Tylosis 41
Hyperkeratosis 60


Classifications:

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


External Ids:

OMIM45 600962
Disease Ontology9 DOID:0050428
MeSH33 D015776

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

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Disease Ontology:9 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:45 600962

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, Nonepidermolytic22

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

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FMA organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

14
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:

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

Clinvar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

6
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet