Gastroenterology · Gastroenterology / Hepatology
Caroli syndrome
also: Congenital hepatic fibrosis with cystic bile ducts
Segmental biliary dilation with congenital hepatic fibrosis.
- Specialty
- Gastroenterology
- Subspecialty
- Gastroenterology / Hepatology
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, childhood onset
- Gene(s) involved
- PKHD1
- Alternative names & eponyms
- Congenital hepatic fibrosis with cystic bile ducts
Etiology & mechanism
Ductal plate malformation from ciliary fibrocystin deficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Caroli syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Budd–Chiari syndrome
abdominal pain, hepatomegaly
2 shared
Zellweger syndrome
hepatomegaly, renal cysts
1 shared
Acute fatty liver of pregnancy syndrome
abdominal pain
1 shared
Alagille syndrome
cholestasis
1 shared
Alpha-gal syndrome
abdominal pain
1 shared
Blind loop syndrome
abdominal pain
1 shared
Cannabinoid hyperemesis syndrome
abdominal pain
1 shared
Carcinoid syndrome
abdominal pain
1 shared
Chanarin–Dorfman syndrome
hepatomegaly
1 shared
Chilaiditi syndrome
abdominal pain
Shares genes with
None.
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