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progressive familial intrahepatic cholestasis

ORPHA: 172

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with progressive familial intrahepatic cholestasis, sourced from HPO and Orphanet clinical annotations.

JaundiceCholestasisFailure to thriveSplenomegalyAbnormality of thrombocytesAbnormality of coagulationMalabsorptionHepatomegalyNeoplasmDelayed skeletal maturationHypocalcemiaShort statureReduced bone mineral densityCognitive impairment

Classification & Codes

Orphanet Code

ORPHA:172
progressive familial intrahepatic cholestasis
OrphanetORPHA:172
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO