Features include always present findings: Elevated circulating aspartate aminotransferase concentration, Increased total bilirubin, Increased serum bile acid concentration, and Conjugated hyperbilirubinemia; and very common findings: Enlarged liver (hepatomegaly), Elevated circulating alanine aminotransferase concentration, and Jaundice. 16 total HPO annotations.

MYO5B encodes myosin VB (1,848 aa). May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Highest expression in Esophagus Mucosa (20.9 TPM) and Thyroid (20.5 TPM).

Cholestasis, progressive familial intrahepatic, 10 is associated with mutations in the MYO5B gene on chromosome 18.

MYO5B is classified as a druggable target with score 0.0.

Genetic testing for MYO5B is available. Testing is considered confirmatory for diagnosis.

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

No clinical trials have been registered for cholestasis, progressive familial intrahepatic, 10.

31 publications have been identified in PubMed for cholestasis, progressive familial intrahepatic, 10. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (23%), and Basic Science / Preclinical (19%).