MCID: CRL004
MIFTS: 40

Caroli Disease

Categories: Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Caroli Disease

MalaCards integrated aliases for Caroli Disease:

Name: Caroli Disease 12 77 54 30 45 15 41 17 74
Congenital Polycystic Dilatation of Intrahepatic Bile Ducts 54
Cystic Dilatation of the Intrahepatic Biliary Tree 54
Caroli Disease Isolated 54
Caroli Syndrome 60
Carolis Disease 56

Classifications:

Orphanet: 60  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050876
MeSH 45 D016767
NCIt 51 C84619
Orphanet 60 ORPHA480520
UMLS 74 C0162510

Summaries for Caroli Disease

NIH Rare Diseases : 54 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.

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 polycystic liver disease and congenital hepatic fibrosis. An important gene associated with Caroli Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Ceramide Pathway and G12-G13 in Cellular Signaling. The drugs Pancrelipase and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and lung, and related phenotypes are Increased viability with TRAIL and cellular

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

Wikipedia : 77 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

GenomeRNAi Phenotypes related to Caroli Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with TRAIL GR00154-A 8.62 MAP2K5 MAPK7

MGI Mouse Phenotypes related to Caroli Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 MAP2K5 MAPK7 PKD1 PKHD1 WDR19
2 digestive/alimentary MP:0005381 9.46 MAPK7 PKD1 PKHD1 WDR19
3 embryo MP:0005380 9.26 MAP2K5 MAPK7 PKD1 WDR19
4 muscle MP:0005369 8.92 MAP2K5 MAPK7 PKD1 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 Liver Extracts
3 pancreatin
4 Alpha 1-Antitrypsin
5 Protein C Inhibitor

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
2 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

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 30

Anatomical Context for Caroli Disease

MalaCards organs/tissues related to Caroli Disease:

42
Liver, Kidney, Lung

Publications for Caroli Disease

Articles related to Caroli Disease:

(show all 39)
# Title Authors Year
1
Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis. ( 30879585 )
2019
2
Liver resection and transplantation in Caroli disease and syndrome. ( 29929811 )
2018
3
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
4
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. ( 28633199 )
2017
5
Response to letter on Caroli disease. ( 27188889 )
2016
6
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
7
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with caroli disease. ( 25907884 )
2015
8
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. ( 26596209 )
2015
9
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. ( 24710345 )
2014
10
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. ( 24712045 )
2014
11
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. ( 24870623 )
2014
12
Caroli disease associated with vein of Galen malformation in a male child. ( 24958584 )
2014
13
Cholangiocarcinoma or Caroli disease: a case presentation. ( 24834275 )
2013
14
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
15
Left-hemihepatectomy as a method of treatment of locally limited Caroli disease. ( 24413206 )
2013
16
Unusual renal manifestation of Caroli disease: AA amyloidosis. ( 22681158 )
2012
17
Liver transplantation for caroli disease. ( 25013645 )
2012
18
Caroli disease with bilateral severe bullous emphysema. An unknown component. ( 23147882 )
2012
19
Caroli disease patients have excellent survival after liver transplant. ( 22640887 )
2012
20
Caroli disease: review of eight cases with emphasis on magnetic resonance imaging features. ( 21543986 )
2011
21
Meckel syndrome with Caroli disease and choledochal cysts. ( 21843058 )
2011
22
Caroli disease and the central dot sign. ( 19221729 )
2009
23
Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. ( 18216545 )
2008
24
Diffuse cystic disease of the lung associated with simultaneous bilateral spontaneous pneumothorax: an unknown component of Caroli disease? ( 17003526 )
2008
25
Caroli disease. ( 17290729 )
2007
26
Hepatic cirrhosis caused by Caroli disease. ( 15879635 )
2005
27
Carcinomatous arteriopathy as an unusual feature of pulmonary spread of cholangiocarcinoma arising in Caroli disease. ( 12033963 )
2002
28
Case 38: Caroli disease and renal tubular ectasia. ( 11526273 )
2001
29
CAROLI DISEASE AND CAROLI SYNDROME. ( 28775611 )
1999
30
Central dot sign in entities other than Caroli disease. ( 9495788 )
1997
31
Caroli disease: computed tomographic diagnosis. ( 1879642 )
1991
32
Caroli disease: central dot sign in CT. ( 2294544 )
1990
33
Caroli disease: high-frequency US and pathologic findings. ( 3510448 )
1986
34
Radionuclide hepatobiliary imaging in congenital biliary tract ectasia (Caroli disease). ( 7110761 )
1982
35
Case of the day. Case 5. Congenital dilatation of intrahepatic bile ducts (? caroli disease). ( 6770656 )
1980
36
Diagnosis of Caroli disease. ( 7351613 )
1980
37
Diagnosis of Caroli disease. ( 7400911 )
1980
38
Caroli disease: the diagnostic approach. ( 448528 )
1979
39
Diagnosis of Caroli disease by computed tomography: report of two cases. ( 472244 )
1979

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 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 kidney development GO:0001822 9.43 PKD1 PKHD1
2 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.4 MAP2K5 PKHD1
3 cellular response to growth factor stimulus GO:0071363 9.37 MAP2K5 MAPK7
4 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.32 MAP2K5 MAPK7
5 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.26 MAP2K5 MAPK7
6 positive regulation of protein metabolic process GO:0051247 9.16 MAP2K5 MAPK7
7 cellular response to laminar fluid shear stress GO:0071499 8.96 MAP2K5 MAPK7
8 negative regulation of response to cytokine stimulus GO:0060761 8.62 MAP2K5 MAPK7

Sources for Caroli Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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