Prepair 1000+

Gene: MYO5B

Green List (high evidence)

Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes.

Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture

MVID is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset with first symptoms appearing after 3 or 4 months of life.

Well established gene-disease association.

Created: 30 Jan 2025, 9:24 p.m. | Last Modified: 30 Jan 2025, 9:24 p.m.

Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850

Publications

• 30564347
• 29266534
• 27532546