MCID: CRL004
MIFTS: 35

Caroli Disease

Categories: Rare diseases, Liver diseases, Gastrointestinal diseases

Aliases & Classifications for Caroli Disease

MalaCards integrated aliases for Caroli Disease:

Name: Caroli Disease 12 72 49 28 41 14 69
Congenital Polycystic Dilatation of Intrahepatic Bile Ducts 49
Cystic Dilatation of the Intrahepatic Biliary Tree 49
Caroli Disease Isolated 49
Caroli Syndrome 55
Carolis Disease 51

Classifications:

Orphanet: 55  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050876
MeSH 41 D016767
NCIt 46 C84619
SNOMED-CT 64 111331000
Orphanet 55 ORPHA480520
UMLS 69 C0162510

Summaries for Caroli Disease

NIH Rare Diseases : 49 Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. In addition to the symptoms of Caroli disease, people affected by Caroli syndrome may also experience liver fibrosis and portal hypertension (high blood pressure of the portal vein). Although the underlying cause of Caroli disease and Caroli syndrome are poorly understood, they are thought to be genetic conditions. Caroli disease generally occurs sporadically in people with no family history of the condition; however, rare reports exist of autosomal dominant inheritance in association with autosomal dominant polycystic kidney disease. Caroli syndrome is generally inherited in an autosomal recessive manner and is frequently seen in association with autosomal recessive polycystic kidney disease. Treatment is based on the signs and symptoms present in each person. Last updated: 7/19/2017

MalaCards based summary : Caroli Disease, also known as congenital polycystic dilatation of intrahepatic bile ducts, is related to polycystic kidney disease 4 with or without hepatic disease and polycystic kidney disease 5. An important gene associated with Caroli Disease is PKHD1 (PKHD1, Fibrocystin/Polyductin). The drugs Pancrelipase and Alpha 1-Antitrypsin have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and lung, and related phenotype is digestive/alimentary.

Disease Ontology : 12 A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.

Wikipedia : 72 Caroli disease (communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic... more...

Related Diseases for Caroli Disease

Graphical network of the top 20 diseases related to Caroli Disease:



Diseases related to Caroli Disease

Symptoms & Phenotypes for Caroli Disease

MGI Mouse Phenotypes related to Caroli Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 MAPK7 PKD1 PKHD1 WDR19

Drugs & Therapeutics for Caroli Disease

Drugs for Caroli Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational 53608-75-6
2 Alpha 1-Antitrypsin
3 Liver Extracts
4 pancreatin
5 Protein C Inhibitor

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
2 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
3 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Caroli Disease

Cochrane evidence based reviews: caroli disease

Genetic Tests for Caroli Disease

Genetic tests related to Caroli Disease:

# Genetic test Affiliating Genes
1 Caroli Disease 28

Anatomical Context for Caroli Disease

MalaCards organs/tissues related to Caroli Disease:

38
Liver, Kidney, Lung

Publications for Caroli Disease

Articles related to Caroli Disease:

(show all 26)
# Title Authors Year
1
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
2
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. ( 28633199 )
2017
3
Response to letter on Caroli disease. ( 27188889 )
2016
4
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with caroli disease. ( 25907884 )
2015
5
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. ( 26596209 )
2015
6
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
7
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. ( 24712045 )
2014
8
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. ( 24870623 )
2014
9
Caroli disease associated with vein of Galen malformation in a male child. ( 24958584 )
2014
10
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. ( 24710345 )
2014
11
Left-hemihepatectomy as a method of treatment of locally limited Caroli disease. ( 24413206 )
2013
12
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
13
Cholangiocarcinoma or Caroli disease: a case presentation. ( 24834275 )
2013
14
Unusual renal manifestation of Caroli disease: AA amyloidosis. ( 22681158 )
2012
15
Caroli disease patients have excellent survival after liver transplant. ( 22640887 )
2012
16
Liver transplantation for caroli disease. ( 25013645 )
2012
17
Caroli disease with bilateral severe bullous emphysema. An unknown component. ( 23147882 )
2012
18
Caroli disease: review of eight cases with emphasis on magnetic resonance imaging features. ( 21543986 )
2011
19
Meckel syndrome with Caroli disease and choledochal cysts. ( 21843058 )
2011
20
Caroli disease and the central dot sign. ( 19221729 )
2009
21
Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. ( 18216545 )
2008
22
Diffuse cystic disease of the lung associated with simultaneous bilateral spontaneous pneumothorax: an unknown component of Caroli disease? ( 17003526 )
2008
23
Caroli disease. ( 17290729 )
2007
24
Hepatic cirrhosis caused by Caroli disease. ( 15879635 )
2005
25
Carcinomatous arteriopathy as an unusual feature of pulmonary spread of cholangiocarcinoma arising in Caroli disease. ( 12033963 )
2002
26
Case 38: Caroli disease and renal tubular ectasia. ( 11526273 )
2001

Variations for Caroli Disease

Expression for Caroli Disease

Search GEO for disease gene expression data for Caroli Disease.

Pathways for Caroli Disease

GO Terms for Caroli Disease

Cellular components related to Caroli Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.33 PKD1 PKHD1 WDR19
2 motile cilium GO:0031514 8.96 PKD1 WDR19
3 cilium GO:0005929 8.8 PKD1 PKHD1 WDR19

Biological processes related to Caroli Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.32 PKD1 WDR19
2 cilium assembly GO:0060271 9.26 PKHD1 WDR19
3 peptidyl-serine phosphorylation GO:0018105 9.16 MAPK7 PKD1
4 cell-cell adhesion GO:0098609 8.96 PKD1 PKHD1
5 kidney development GO:0001822 8.62 PKD1 PKHD1

Sources for Caroli Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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