Features include always present findings: Onycholysis, Epidermal acanthosis, Excessive sweating (hyperhidrosis), and Orthokeratotic hyperkeratosis and others. 11 total HPO annotations.

DSG1 encodes desmoglein 1 (1,049 aa). Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion Highest expression in Skin Sun Exposed Lower leg (513.0 TPM) and Skin Not Sun Exposed Suprapubic (400.9 TPM).

Palmoplantar keratoderma i, striate, focal, or diffuse is associated with mutations in the DSG1 gene on chromosome 18.

The DSG1 protein participates in Keratinocyte of spinosum layer differentiates into keratinocyte of granulosum layer in interfollicular epidermis and Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathways.

DSG1 is classified as a druggable target with score 1.3.

Genetic testing for DSG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for palmoplantar keratoderma i, striate, focal, or diffuse has been reported in the published literature.

Phenotype severity distribution: 10 always present features.

No clinical trials have been registered for palmoplantar keratoderma i, striate, focal, or diffuse.

203 publications have been identified in PubMed for palmoplantar keratoderma i, striate, focal, or diffuse. Research spans Basic Science / Preclinical (73%), Other (12%), and Review / Meta-Analysis (5%).