MCID: ISL103
MIFTS: 9

Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

MalaCards integrated aliases for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma:

Name: Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma 58

Characteristics:

Orphanet epidemiological data:

58
isolated focal non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA448264

Summaries for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

MalaCards based summary : Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma is related to focal palmoplantar keratoderma and palmoplantar keratoderma, nonepidermolytic. An important gene associated with Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma is KRT16 (Keratin 16). Affiliated tissues include skin, and related phenotypes are Decreased shRNA abundance and Decreased shRNA abundance

Related Diseases for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Diseases related to Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 focal palmoplantar keratoderma 9.5 TRPV3 KRT16
2 palmoplantar keratoderma, nonepidermolytic 9.4 TRPV3 KRT16
3 palmoplantar keratosis 9.2 TRPV3 KRT16

Symptoms & Phenotypes for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

GenomeRNAi Phenotypes related to Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 KRT16 TRPV3
2 Decreased shRNA abundance GR00251-A-2 9.23 KRT16 TRPV3

Drugs & Therapeutics for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Search Clinical Trials , NIH Clinical Center for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Genetic Tests for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Anatomical Context for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

MalaCards organs/tissues related to Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma:

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Skin

Publications for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Articles related to Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma:

# Title Authors PMID Year
1
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. 6
25285920 2015

Variations for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Expression for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Search GEO for disease gene expression data for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma.

Pathways for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

GO Terms for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Sources for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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