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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for MYO5B-related progressive familial intrahepatic cholestasis.
9 publications have been identified in PubMed for MYO5B-related progressive familial intrahepatic cholestasis. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (22%).
Burman A (2026). [PMID: 41720082](https://pubmed.ncbi.nlm.nih.gov/41720082/). *Stem Cell Reports*. [Basic Science / Preclinical]
Zhou Z (2026). [PMID: 41511375](https://pubmed.ncbi.nlm.nih.gov/41511375/). *Cells*. [Review / Meta-Analysis]
Sun C (2026). [PMID: 41908891](https://pubmed.ncbi.nlm.nih.gov/41908891/). *Gastroenterol Rep (Oxf)*. [Basic Science / Preclinical]
Huimin Z (2025). [PMID: 41822262](https://pubmed.ncbi.nlm.nih.gov/41822262/). *Front Gastroenterol (Lausanne)*. [Case Report / Case Series]
Vitale G (2025). [PMID: 39984942](https://pubmed.ncbi.nlm.nih.gov/39984942/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 11:12 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about MYO5B-related progressive familial intrahepatic cholestasis
She HY (2025). [PMID: 40127562](https://pubmed.ncbi.nlm.nih.gov/40127562/). *Biochem Biophys Res Commun*. [Basic Science / Preclinical]
Miethke AG (2024). [PMID: 38723644](https://pubmed.ncbi.nlm.nih.gov/38723644/). *Lancet Gastroenterol Hepatol*. [Clinical Trial Publication]
Fiedler A (2024). [PMID: 39403551](https://pubmed.ncbi.nlm.nih.gov/39403551/). *ACG Case Rep J*. [Case Report / Case Series]
Mishima Y (2024). [PMID: 39182182](https://pubmed.ncbi.nlm.nih.gov/39182182/). *Tokai J Exp Clin Med*. [Case Report / Case Series]