MCID: CRL004
MIFTS: 38

Caroli Disease

Categories: Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Caroli Disease

MalaCards integrated aliases for Caroli Disease:

Name: Caroli Disease 12 75 53 29 44 15 40 17 72
Congenital Polycystic Dilatation of Intrahepatic Bile Ducts 53
Cystic Dilatation of the Intrahepatic Biliary Tree 53
Caroli Disease Isolated 53
Caroli Syndrome 59
Carolis Disease 55

Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050876
MeSH 44 D016767
NCIt 50 C84619
Orphanet 59 ORPHA480520
UMLS 72 C0162510

Summaries for Caroli Disease

NIH Rare Diseases : 53 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 G12-G13 in Cellular Signaling and Ceramide Pathway. 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 : 75 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 75)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 with or without polycystic liver disease 32.2 PKHD1 PKD1
2 congenital hepatic fibrosis 30.7 PKHD1 PKD1
3 cystic kidney disease 29.9 PKHD1 PKD1
4 polycystic liver disease 29.8 PKHD1 PKD1
5 autosomal dominant polycystic kidney disease 29.5 PKHD1 PKD1
6 nephronophthisis 29.3 WDR19 PKHD1 PKD1
7 caroli disease, isolated 12.5
8 cholangitis 10.5
9 portal hypertension 10.4
10 cholangiocarcinoma 10.4
11 intrahepatic cholangiocarcinoma 10.4
12 polycystic kidney disease 10.3
13 kidney disease 10.2
14 polydactyly 10.1
15 choledocholithiasis 10.1
16 end stage renal failure 10.1
17 splenomegaly 10.1
18 ciliopathy 10.1
19 renal dysplasia 10.1
20 cholelithiasis 10.1
21 diabetes insipidus 10.1
22 polycystic kidney disease 2 with or without polycystic liver disease 10.0 PKHD1 PKD1
23 pneumothorax, primary spontaneous 9.9
24 polydactyly, postaxial, type a1 9.9
25 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
26 bile duct cysts 9.9
27 nephronophthisis 3 9.9
28 cholangitis, primary sclerosing 9.9
29 nephronophthisis 13 9.9
30 autosomal recessive disease 9.9
31 arteriovenous malformation 9.9
32 constrictive pericarditis 9.9
33 primary biliary cirrhosis 9.9
34 cholestasis 9.9
35 sclerosing cholangitis 9.9
36 pneumothorax 9.9
37 pericarditis 9.9
38 acute pancreatitis 9.9
39 adenocarcinoma 9.9
40 papillary adenocarcinoma 9.9
41 liver disease 9.9
42 liver cirrhosis 9.9
43 congestive heart failure 9.9
44 situs inversus 9.9
45 chronic kidney disease 9.9
46 lung disease 9.9
47 amyloidosis 9.9
48 amyloidosis aa 9.9
49 encephalocele 9.9
50 hepatic cystic hamartoma 9.9

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:

26
# 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:

46
# 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

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:

41
Liver, Kidney, Lung, Pancreas, Smooth Muscle

Publications for Caroli Disease

Articles related to Caroli Disease:

(show top 50) (show all 140)
# Title Authors PMID Year
1
Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases. 38
31165788 2019
2
Large-duct cholangiopathies: aetiology, diagnosis and treatment. 38
31288256 2019
3
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations. 38
30852632 2019
4
Role of Transplant in Biliary Disease. 38
30846041 2019
5
Liver resection and transplantation in Caroli disease and syndrome. 38
29929811 2019
6
Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis. 38
31027922 2019
7
Cholangiolocellular Carcinoma With "Ductal Plate Malformation" Pattern May Be Characterized by ARID1A Genetic Alterations. 38
30520820 2019
8
Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis. 38
30879585 2019
9
Evaluation of Underlying Liver Disease and Its Severity in Children Referred for Liver Transplant: a Single-Center Report From Nemazee Hospital of Shiraz. 38
30836904 2019
10
Blockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat. 38
30036521 2018
11
Hepatic morphology abnormalities: beyond cirrhosis. 38
29043403 2018
12
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. 38
29140564 2018
13
[Upper abdominal pain and febrile episodes in a 44-year-old Filipino woman]. 38
28939930 2018
14
Laparoscopic hepatectomy for the treatment of Caroli's disease: a case report. 38
29520352 2018
15
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. 38
28669735 2017
16
[A case of Caroli disease in Tibet, China]. 38
29108211 2017
17
Congenital hepatic fibrosis in a 9-year-old female patient - a case report. 38
29062909 2017
18
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. 38
28633199 2017
19
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 38
28621010 2017
20
Canine Breed-Specific Hepatopathies. 38
28081863 2017
21
Factors associated with long-term survival after liver transplantation: A retrospective cohort study. 38
28357030 2017
22
Unusual Indications for a Liver Transplant: A Single-Center Experience. 38
28260452 2017
23
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. 38
26596209 2016
24
Accessory gallbladder in an intrahepatic location mimicking a cystic tumor of the liver: A case report. 38
27858902 2016
25
Response to letter on Caroli disease. 38
27188889 2016
26
Imaging of Von Meyenburg complexes. 38
26522945 2016
27
Hepatorenal fibrocystic diseases in children. 38
26260382 2016
28
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 38
26385851 2015
29
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 38
25726036 2015
30
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease. 38
25907884 2015
31
Segmental cholangiectasia clinically worrisome for cholangiocarcinoma: comparison with recurrent pyogenic cholangitis. 38
25600951 2015
32
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. 38
24870623 2014
33
Liver involvement in children with ciliopathies. 38
24953524 2014
34
Caroli disease associated with vein of Galen malformation in a male child. 38
24958584 2014
35
Diagnostic challenge of large congenital liver cyst in the newborn. 38
24730630 2014
36
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. 38
24712045 2014
37
Cutaneous disorders in liver transplant recipients. 38
24635804 2014
38
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 38
24710345 2014
39
Left-hemihepatectomy as a method of treatment of locally limited Caroli disease. 38
24413206 2013
40
Surgical management of congenital intrahepatic bile duct dilatation, Caroli's disease and syndrome: long-term results of the French Association of Surgery Multicenter Study. 38
24121258 2013
41
Protein kinase A-dependent pSer(675) -β-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. 38
23744610 2013
42
Giant biliary cystadenoma complicated with polycystic liver: a case report. 38
24115833 2013
43
Bile duct cyst in adults: interventional treatment, resection, or transplantation? 38
23983423 2013
44
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 38
23559409 2013
45
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. 38
21845392 2013
46
Cholangiocarcinoma or Caroli disease: a case presentation. 38
24834275 2013
47
Caroli disease with bilateral severe bullous emphysema. An unknown component. 38
23147882 2012
48
Caroli disease patients have excellent survival after liver transplant. 38
22640887 2012
49
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. 38
22197937 2012
50
Unusual renal manifestation of Caroli disease: AA amyloidosis. 38
22681158 2012

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 WDR19 PKHD1 PKD1

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

Sources for Caroli Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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