Rare diseases · Sign or symptom
Cholestasis
Slowed or blocked flow of bile from liver
HP:0001396
What it means
Impairment of bile flow due to obstruction in bile ducts.
Rare diseases that can present with this32
Very common80–99%
10- Alagille syndrome
- CADDS
- Caroli disease
- GRACILE syndrome
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- Isolated biliary atresia
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal intrahepatic cholestasis due to citrin deficiency
- Primary sclerosing cholangitis
- Progressive familial intrahepatic cholestasis
Common30–79%
11- AA amyloidosis
- Autosomal recessive polycystic kidney disease
- Congenital bile acid synthesis defect type 2
- Congenital bile acid synthesis defect type 3
- Growth delay-intellectual disability-hepatopathy syndrome
- Isolated sedoheptulokinase deficiency
- Lambert syndrome
- Obesity due to prohormone convertase I deficiency
- Obesity due to pro-opiomelanocortin deficiency
- Occipital horn syndrome
- Senior-Boichis syndrome
Sometimes5–29%
9- Acute generalized exanthematous pustulosis
- Alpha-1-antitrypsin deficiency
- Congenital enterovirus infection
- Familial atrial myxoma
- Galactose mutarotase deficiency
- Glycogen storage disease due to liver phosphorylase kinase deficiency
- Mitochondrial trifunctional protein deficiency
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
and 1 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.