MCID: ISL103
MIFTS: 8

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 60

Characteristics:

Orphanet epidemiological data:

60
isolated focal non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Orphanet 60 ORPHA448264

Summaries for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

MalaCards based summary : Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma is related to palmoplantar keratoderma, nonepidermolytic. An important gene associated with Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). 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 palmoplantar keratoderma, nonepidermolytic 9.5 KRT16 TRPV3

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:

27
# 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

MGI Mouse Phenotypes related to Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.62 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:

42
Skin

Publications for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

Variations for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

ClinVar genetic disease variations for Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV3 NM_145068.3(TRPV3): c.1739A> C (p.Gln580Pro) single nucleotide variant Pathogenic rs786205869 GRCh37 Chromosome 17, 3427496: 3427496
2 TRPV3 NM_145068.3(TRPV3): c.1739A> C (p.Gln580Pro) single nucleotide variant Pathogenic rs786205869 GRCh38 Chromosome 17, 3524202: 3524202

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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