Features include very common findings: White forelock, Piebald skin depigmentation, and Hypopigmentation of hair; and common findings: Hypopigmented skin patches, White eyebrow, White eyelashes, and Macule. 23 total HPO annotations.

KIT encodes KIT proto-oncogene, receptor tyrosine kinase (976 aa). Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. Highest expression in Esophagus Muscularis (44.5 TPM) and Ovary (36.4 TPM).

Piebaldism is associated with mutations in the KIT gene on chromosome 4.

The KIT protein participates in KIT V559_V560del, KIT K550_K558del, and KIT P551_V555del pathways.

KIT is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, External Side Of Plasma Membrane, Kinase, Transcription Factor, and Tyrosine Kinase categories) with score 2.1.

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

Biomarker and diagnostic research for piebaldism has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for piebaldism.

36 publications have been identified in PubMed for piebaldism. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (17%), and Clinical Trial Publication (8%).