MCID: CRL004
MIFTS: 39

Caroli Disease

Categories: Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Caroli Disease

MalaCards integrated aliases for Caroli Disease:

Name: Caroli Disease 12 74 52 29 43 15 39 17 71
Congenital Polycystic Dilatation of Intrahepatic Bile Ducts 52
Cystic Dilatation of the Intrahepatic Biliary Tree 52
Caroli Disease Isolated 52
Caroli Syndrome 58
Carolis Disease 54

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050876
MeSH 43 D016767
NCIt 49 C84619
Orphanet 58 ORPHA480520
UMLS 71 C0162510

Summaries for Caroli Disease

NIH Rare Diseases : 52 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 congenital hepatic fibrosis and ascending cholangitis. An important gene associated with Caroli Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include liver, kidney and lung, and related phenotypes are cellular and cardiovascular system

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

Wikipedia : 74 Caroli disease (communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic... more...

Related Diseases for Caroli Disease

Diseases related to Caroli Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 congenital hepatic fibrosis 31.2 PKHD1 PKD1
2 ascending cholangitis 30.1 PKHD1 BSCL2
3 polycystic kidney disease 4 with or without polycystic liver disease 29.9 SEC63 PRKCSH PKHD1 PKD2 PKD1 NPHP3
4 bile duct cysts 29.6 PRKCSH ATP8B1 ABCB4
5 nephronophthisis 13 29.3 WDR19 NPHP3 NPHP1 INVS
6 autosomal dominant polycystic kidney disease 29.0 PKHD1 PKD2 PKD1
7 polycystic kidney disease 28.9 PRKCSH PKHD1 PKD2 PKD1 NPHP3 INVS
8 chronic kidney disease 28.7 PKD2 PKD1 NPHP1 INVS
9 polycystic liver disease 28.3 SEC63 PRKCSH PKHD1 PKD2 PKD1 INVS
10 nephronophthisis 27.9 WDR19 PKHD1 PKD2 PKD1 NPHP3 NPHP1
11 retinitis pigmentosa 27.7 WDR19 PKHD1 PKD2 PKD1 NPHP3 NPHP1
12 liver disease 27.7 SEC63 PRKCSH PKHD1 PKD2 PKD1 ATP8B1
13 cystic kidney disease 27.4 SEC63 PRKCSH PKHD1 PKD2 PKD1 NPHP3
14 caroli disease, isolated 12.5
15 cholangitis 10.5
16 portal hypertension 10.4
17 cholangiocarcinoma 10.4
18 intrahepatic cholangiocarcinoma 10.4
19 kidney disease 10.2
20 polydactyly 10.1
21 choledocholithiasis 10.1
22 end stage renal failure 10.1
23 splenomegaly 10.1
24 ciliopathy 10.1
25 renal dysplasia 10.1
26 cholelithiasis 10.1
27 diabetes insipidus 10.1
28 meckel syndrome, type 4 10.1 NPHP3 NPHP1
29 infantile nephronophthisis 10.0 NPHP3 INVS
30 multicystic dysplastic kidney 10.0 PKD2 PKD1
31 cholestasis, progressive familial intrahepatic, 4 9.9 ATP8B1 ABCB4
32 nephronophthisis 15 9.9 NPHP1 INVS
33 pneumothorax, primary spontaneous 9.9
34 polydactyly, postaxial, type a1 9.9
35 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
36 nephronophthisis 3 9.9
37 cholangitis, primary sclerosing 9.9
38 autosomal recessive disease 9.9
39 arteriovenous malformation 9.9
40 constrictive pericarditis 9.9
41 primary biliary cirrhosis 9.9
42 cholestasis 9.9
43 sclerosing cholangitis 9.9
44 pneumothorax 9.9
45 pericarditis 9.9
46 acute pancreatitis 9.9
47 adenocarcinoma 9.9
48 papillary adenocarcinoma 9.9
49 liver cirrhosis 9.9
50 congestive heart failure 9.9

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ABCB4 BSCL2 INVS MAP2K5 MAPK7 NPHP1
2 cardiovascular system MP:0005385 10.11 ABCB4 BSCL2 INVS MAP2K5 MAPK7 NPHP3
3 growth/size/body region MP:0005378 10.06 ABCB4 ATP8B1 BSCL2 INVS MAP2K5 MAPK7
4 digestive/alimentary MP:0005381 10.01 ABCB4 BSCL2 INVS MAPK7 PKD1 PKD2
5 homeostasis/metabolism MP:0005376 9.96 ABCB4 ATP8B1 BSCL2 INVS MAPK7 NPHP3
6 embryo MP:0005380 9.91 INVS MAP2K5 MAPK7 NPHP3 PKD1 PKD2
7 liver/biliary system MP:0005370 9.81 ABCB4 ATP8B1 BSCL2 INVS PKD1 PKD2
8 mortality/aging MP:0010768 9.73 ATP8B1 BSCL2 INVS MAP2K5 MAPK7 NPHP3
9 renal/urinary system MP:0005367 9.32 BSCL2 INVS MAPK7 NPHP1 NPHP3 PKD1

Drugs & Therapeutics for Caroli Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
2 Magnetic Resonance CholangioPancreatography Signs for the Diagnosis of Caroli Disease Not yet recruiting NCT04007575

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 29

Anatomical Context for Caroli Disease

MalaCards organs/tissues related to Caroli Disease:

40
Liver, Kidney, Lung, Heart, Smooth Muscle, Pancreas, Tongue

Publications for Caroli Disease

Articles related to Caroli Disease:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Diagnosis of Congenital Hepatic Fibrosis in Adulthood. 61
31584623 2020
2
Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation. 61
31556146 2019
3
[Laparoscopic Left Hemihepatectoy Applying Intraoperative Indocyanine Green Fluorescence Detection Counter Perfusion Method for Visualization]. 61
31711247 2019
4
Liver transplantation for severe portopulmonary hypertension: A case report and literature review. 61
31750339 2019
5
Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases. 61
31165788 2019
6
Large-duct cholangiopathies: aetiology, diagnosis and treatment. 61
31288256 2019
7
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations. 61
30852632 2019
8
Role of Transplant in Biliary Disease. 61
30846041 2019
9
Liver resection and transplantation in Caroli disease and syndrome. 61
29929811 2019
10
Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis. 61
31027922 2019
11
Cholangiolocellular Carcinoma With "Ductal Plate Malformation" Pattern May Be Characterized by ARID1A Genetic Alterations. 61
30520820 2019
12
Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis. 61
30879585 2019
13
Evaluation of Underlying Liver Disease and Its Severity in Children Referred for Liver Transplant: a Single-Center Report From Nemazee Hospital of Shiraz. 61
30836904 2019
14
Blockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat. 61
30036521 2018
15
Hepatic morphology abnormalities: beyond cirrhosis. 61
29043403 2018
16
β-Catenin and interleukin-1β-dependent chemokine (C-X-C motif) ligand 10 production drives progression of disease in a mouse model of congenital hepatic fibrosis. 61
29140564 2018
17
[Upper abdominal pain and febrile episodes in a 44-year-old Filipino woman]. 61
28939930 2018
18
Laparoscopic hepatectomy for the treatment of Caroli's disease: a case report. 61
29520352 2018
19
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. 61
28669735 2017
20
[A case of Caroli disease in Tibet, China]. 61
29108211 2017
21
Congenital hepatic fibrosis in a 9-year-old female patient - a case report. 61
29062909 2017
22
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 61
28621010 2017
23
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. 61
28633199 2017
24
Canine Breed-Specific Hepatopathies. 61
28081863 2017
25
Factors associated with long-term survival after liver transplantation: A retrospective cohort study. 61
28357030 2017
26
Unusual Indications for a Liver Transplant: A Single-Center Experience. 61
28260452 2017
27
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. 61
26596209 2016
28
Accessory gallbladder in an intrahepatic location mimicking a cystic tumor of the liver: A case report. 61
27858902 2016
29
Response to letter on Caroli disease. 61
27188889 2016
30
Imaging of Von Meyenburg complexes. 61
26522945 2016
31
Hepatorenal fibrocystic diseases in children. 61
26260382 2016
32
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 61
26385851 2015
33
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 61
25726036 2015
34
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease. 61
25907884 2015
35
Segmental cholangiectasia clinically worrisome for cholangiocarcinoma: comparison with recurrent pyogenic cholangitis. 61
25600951 2015
36
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. 61
24870623 2014
37
Liver involvement in children with ciliopathies. 61
24953524 2014
38
Caroli disease associated with vein of Galen malformation in a male child. 61
24958584 2014
39
Diagnostic challenge of large congenital liver cyst in the newborn. 61
24730630 2014
40
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. 61
24712045 2014
41
Cutaneous disorders in liver transplant recipients. 61
24635804 2014
42
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 61
24710345 2014
43
Left-hemihepatectomy as a method of treatment of locally limited Caroli disease. 61
24413206 2013
44
Surgical management of congenital intrahepatic bile duct dilatation, Caroli's disease and syndrome: long-term results of the French Association of Surgery Multicenter Study. 61
24121258 2013
45
Protein kinase A-dependent pSer(675) -β-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. 61
23744610 2013
46
Giant biliary cystadenoma complicated with polycystic liver: a case report. 61
24115833 2013
47
Bile duct cyst in adults: interventional treatment, resection, or transplantation? 61
23983423 2013
48
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 61
23559409 2013
49
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. 61
21845392 2013
50
Cholangiocarcinoma or Caroli disease: a case presentation. 61
24834275 2013

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 endoplasmic reticulum GO:0005783 9.85 SEC63 PRKCSH PKD2 PKD1 BSCL2 ATP8B1
2 motile cilium GO:0031514 9.56 WDR19 PKD2 PKD1 NPHP1
3 cell projection GO:0042995 9.56 WDR19 PKHD1 PKD2 PKD1 NPHP3 NPHP1
4 cation channel complex GO:0034703 9.32 PKD2 PKD1
5 cilium GO:0005929 9.17 WDR19 PKHD1 PKD2 PKD1 NPHP3 NPHP1
6 polycystin complex GO:0002133 9.16 PKD2 PKD1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.76 PKHD1 PKD1 NPHP1
2 Wnt signaling pathway GO:0016055 9.73 PKD2 PKD1 NPHP3 INVS
3 positive regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045737 9.6 PKD2 PKD1
4 JAK-STAT cascade GO:0007259 9.59 PKD2 PKD1
5 phospholipid translocation GO:0045332 9.58 ATP8B1 ABCB4
6 embryonic placenta development GO:0001892 9.57 PKD2 PKD1
7 placenta blood vessel development GO:0060674 9.56 PKD2 PKD1
8 detection of mechanical stimulus GO:0050982 9.55 PKD2 PKD1
9 cytoplasmic sequestering of transcription factor GO:0042994 9.54 PKD2 PKD1
10 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.52 MAPK7 MAP2K5
11 positive regulation of protein metabolic process GO:0051247 9.51 MAPK7 MAP2K5
12 cellular response to laminar fluid shear stress GO:0071499 9.49 MAPK7 MAP2K5
13 negative regulation of response to cytokine stimulus GO:0060761 9.48 MAPK7 MAP2K5
14 mesonephric tubule development GO:0072164 9.46 PKD2 PKD1
15 kidney development GO:0001822 9.46 PKHD1 PKD2 PKD1 NPHP3
16 mesonephric duct development GO:0072177 9.4 PKD2 PKD1
17 determination of liver left/right asymmetry GO:0071910 9.37 PKD2 NPHP3
18 metanephric ascending thin limb development GO:0072218 9.32 PKD2 PKD1
19 cell-cell signaling by wnt GO:0198738 9.26 PKD2 PKD1
20 nitrogen compound metabolic process GO:0006807 9.13 SEC63 PRKCSH PKD1
21 liver development GO:0001889 8.92 SEC63 PRKCSH PKD2 PKD1

Molecular functions related to Caroli Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 WDR19 SEC63 PRKCSH PKHD1 PKD2 PKD1
2 ion channel binding GO:0044325 9.13 PRKCSH PKD2 PKD1

Sources for Caroli Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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