Features include always present findings: Ascites and Esophageal varix; and common findings: Liver scarring (cirrhosis) (cirrhosis). 14 total HPO annotations.

KRT18 encodes keratin 18 (430 aa). Required for the formation of KRT8/KRT18 filaments that are involved in ARHGEF40-mediated actin stress fiber formation and tensional force-induced stress fiber formation and reinforcement. Highest expression in Minor Salivary Gland (348.2 TPM) and Thyroid (298.4 TPM).

Cirrhosis, familial is associated with mutations in the KRT18 gene on chromosome 12.

The KRT18 protein participates in Hormone receptor positive mammary luminal progenitor cell produces hormone receptor positive luminal epithelial cell, Mammary stem cell produces hormone receptor positive luminal progenitor cell, and Mammary hormone receptor negative luminal progenitor cell produces alveolar progenitor cell pathways.

KRT18 is classified as a druggable target (Druggable Genome category) with score 2.9.

Genetic testing for KRT18 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cirrhosis, familial has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 common feature.

No clinical trials have been registered for cirrhosis, familial.

100 publications have been identified in PubMed for cirrhosis, familial. Research spans Case Report / Case Series (48%), Epidemiology / Natural History (22%), and Basic Science / Preclinical (14%).