Details of Disease

General Information of Disease (ID: DISXQYMX)

• Disease Name: Caroli disease
• Synonyms: Caroli disease isolated; CAROLI disease, isolated; congenital polycystic dilatation of intrahepatic bile ducts; cystic dilatation of the intrahepatic biliary tree
• Definition: Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.
• Disease Hierarchy:
  DISUV4DU: Non-neoplastic bile duct disorder
  DISXQYMX: Caroli disease
• Disease Identifiers:
  MONDO ID: MONDO_0010913
  MESH ID: D016767
  UMLS CUI: C0162510
  MedGen ID: 57924
  Orphanet ID: 53035
  SNOMED CT ID: 111331000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ANGPT2	TTKLQTJ	Strong	Biomarker	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PKHD1	OTAH8SMF	Supportive	Autosomal recessive	[2]
GLIS2	OTOUUV1X	Strong	Genetic Variation	[3]
PKD1	OT5ALRZ5	Strong	Autosomal dominant	[4]

References

• [1] Effects of angiogenic factor overexpression by human and rodent cholangiocytes in polycystic liver diseases.Hepatology. 2006 May;43(5):1001-12. doi: 10.1002/hep.21143.
• [2] Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. PLoS One. 2014 Apr 7;9(4):e92661. doi: 10.1371/journal.pone.0092661. eCollection 2014.
• [3] Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet. 2013 Aug;132(8):865-84. doi: 10.1007/s00439-013-1297-0. Epub 2013 Apr 5.
• [4] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.