MCID: CRL006
MIFTS: 27

Caroli Disease, Isolated

Categories: Fetal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Caroli Disease, Isolated

MalaCards integrated aliases for Caroli Disease, Isolated:

Name: Caroli Disease, Isolated 56
Caroli Disease 58 71

Characteristics:

Orphanet epidemiological data:

58
caroli disease
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
caroli disease, isolated:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 600643
MESH via Orphanet 44 C531647 D016767
ICD10 via Orphanet 33 Q44.6
UMLS via Orphanet 72 C0162510 C1833541
Orphanet 58 ORPHA53035
MedGen 41 C1833541
UMLS 71 C0162510

Summaries for Caroli Disease, Isolated

MalaCards based summary : Caroli Disease, Isolated, also known as caroli disease, is related to polycystic kidney disease 4 with or without polycystic liver disease and caroli disease. An important gene associated with Caroli Disease, Isolated is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin). Affiliated tissues include liver, kidney and smooth muscle, and related phenotypes are hepatomegaly and vomiting

More information from OMIM: 600643

Related Diseases for Caroli Disease, Isolated

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

(showing 45, show less)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 with or without polycystic liver disease 11.6
2 caroli disease 11.5
3 cholangitis 10.5
4 portal hypertension 10.4
5 cholangiocarcinoma 10.4
6 intrahepatic cholangiocarcinoma 10.4
7 congenital hepatic fibrosis 10.4
8 polycystic kidney disease 10.3
9 kidney disease 10.2
10 polydactyly 10.1
11 choledocholithiasis 10.1
12 end stage renal disease 10.1
13 autosomal dominant polycystic kidney disease 10.1
14 splenomegaly 10.1
15 ciliopathy 10.1
16 renal dysplasia 10.1
17 pneumothorax, primary spontaneous 9.9
18 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
19 bile duct cysts 9.9
20 nephronophthisis 3 9.9
21 cholangitis, primary sclerosing 9.9
22 nephronophthisis 13 9.9
23 autosomal recessive disease 9.9
24 polycystic liver disease 9.9
25 arteriovenous malformation 9.9
26 constrictive pericarditis 9.9
27 primary biliary cirrhosis 9.9
28 nephronophthisis 9.9
29 cholestasis 9.9
30 sclerosing cholangitis 9.9
31 pneumothorax 9.9
32 pericarditis 9.9
33 acute pancreatitis 9.9
34 adenocarcinoma 9.9
35 papillary adenocarcinoma 9.9
36 liver disease 9.9
37 liver cirrhosis 9.9
38 congestive heart failure 9.9
39 situs inversus 9.9
40 lung disease 9.9
41 amyloidosis 9.9
42 amyloidosis aa 9.9
43 encephalocele 9.9
44 hepatic cystic hamartoma 9.9
45 occipital encephalocele 9.9

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



Diseases related to Caroli Disease, Isolated

Symptoms & Phenotypes for Caroli Disease, Isolated

Human phenotypes related to Caroli Disease, Isolated:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 vomiting 31 HP:0002013
3 portal hypertension 31 HP:0001409
4 liver abscess 31 HP:0100523
5 esophageal varix 31 HP:0002040
6 recurrent fever 31 HP:0001954
7 epigastric pain 31 HP:0410019
8 cholangitis 31 HP:0030151
9 dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM:

56
G I:
hepatomegaly
vomiting
portal hypertension
liver abscess
epigastric pain
more
Misc:
polycystic kidney disease association
recurrent episodic fever

Clinical features from OMIM:

600643

Drugs & Therapeutics for Caroli Disease, Isolated

Interventional clinical trials:

(showing 2, show less)
# 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, Isolated

Genetic Tests for Caroli Disease, Isolated

Anatomical Context for Caroli Disease, Isolated

MalaCards organs/tissues related to Caroli Disease, Isolated:

40
Liver, Kidney, Smooth Muscle, Lung, Pancreas

Publications for Caroli Disease, Isolated

Articles related to Caroli Disease, Isolated:

(showing 144, show less)
# Title Authors PMID Year
1
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 56 61
16523049 2006
2
Evaluation of long-term results of Caroli's disease: 21 years' observation of a family with autosomal "dominant" inheritance, and review of the literature. 56
7672768 1995
3
Biliary secretion in a patient with cystic dilation of the intrahepatic biliary tree. 56
5656335 1968
4
Congenital dilation of the intrahepatic bile ducts. 56
5902263 1966
5
[Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification]. 56
13543375 1958
6
Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis. 61
31027922 2020
7
[Laparoscopic Left Hemihepatectoy Applying Intraoperative Indocyanine Green Fluorescence Detection Counter Perfusion Method for Visualization]. 61
31711247 2020
8
Revisiting Caroli Syndrome in a Tanzanian Patient. 61
32089970 2020
9
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families. 61
32292534 2020
10
Diagnosis of Congenital Hepatic Fibrosis in Adulthood. 61
31584623 2020
11
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
12
Liver transplantation for severe portopulmonary hypertension: A case report and literature review. 61
31750339 2019
13
Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases. 61
31165788 2019
14
Large-duct cholangiopathies: aetiology, diagnosis and treatment. 61
31288256 2019
15
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations. 61
30852632 2019
16
Role of Transplant in Biliary Disease. 61
30846041 2019
17
Liver resection and transplantation in Caroli disease and syndrome. 61
29929811 2019
18
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
19
Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis. 61
30879585 2019
20
Cholangiolocellular Carcinoma With "Ductal Plate Malformation" Pattern May Be Characterized by ARID1A Genetic Alterations. 61
30520820 2019
21
Blockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat. 61
30036521 2018
22
Hepatic morphology abnormalities: beyond cirrhosis. 61
29043403 2018
23
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
24
[Upper abdominal pain and febrile episodes in a 44-year-old Filipino woman]. 61
28939930 2018
25
Laparoscopic hepatectomy for the treatment of Caroli's disease: a case report. 61
29520352 2018
26
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. 61
28669735 2017
27
[A case of Caroli disease in Tibet, China]. 61
29108211 2017
28
Congenital hepatic fibrosis in a 9-year-old female patient - a case report. 61
29062909 2017
29
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. 61
28633199 2017
30
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 61
28621010 2017
31
Canine Breed-Specific Hepatopathies. 61
28081863 2017
32
Factors associated with long-term survival after liver transplantation: A retrospective cohort study. 61
28357030 2017
33
Unusual Indications for a Liver Transplant: A Single-Center Experience. 61
28260452 2017
34
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. 61
26596209 2016
35
Accessory gallbladder in an intrahepatic location mimicking a cystic tumor of the liver: A case report. 61
27858902 2016
36
Response to letter on Caroli disease. 61
27188889 2016
37
Imaging of Von Meyenburg complexes. 61
26522945 2016
38
Hepatorenal fibrocystic diseases in children. 61
26260382 2016
39
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 61
26385851 2015
40
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 61
25726036 2015
41
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease. 61
25907884 2015
42
Segmental cholangiectasia clinically worrisome for cholangiocarcinoma: comparison with recurrent pyogenic cholangitis. 61
25600951 2015
43
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. 61
24870623 2014
44
Liver involvement in children with ciliopathies. 61
24953524 2014
45
Caroli disease associated with vein of Galen malformation in a male child. 61
24958584 2014
46
Diagnostic challenge of large congenital liver cyst in the newborn. 61
24730630 2014
47
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. 61
24712045 2014
48
Cutaneous disorders in liver transplant recipients. 61
24635804 2014
49
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 61
24710345 2014
50
Left-hemihepatectomy as a method of treatment of locally limited Caroli disease. 61
24413206 2013
51
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
52
Protein kinase A-dependent pSer(675) -β-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. 61
23744610 2013
53
Giant biliary cystadenoma complicated with polycystic liver: a case report. 61
24115833 2013
54
Bile duct cyst in adults: interventional treatment, resection, or transplantation? 61
23983423 2013
55
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 61
23559409 2013
56
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
57
Cholangiocarcinoma or Caroli disease: a case presentation. 61
24834275 2013
58
Caroli disease with bilateral severe bullous emphysema. An unknown component. 61
23147882 2012
59
Caroli disease patients have excellent survival after liver transplant. 61
22640887 2012
60
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. 61
22197937 2012
61
Unusual renal manifestation of Caroli disease: AA amyloidosis. 61
22681158 2012
62
Liver transplantation for caroli disease. 61
25013645 2012
63
Unusual cholangiographic findings in a patient with primary sclerosing cholangitis: cystic dilatation. 61
23864458 2012
64
Choledochal cysts: diagnosis and treatment. 61
22952094 2012
65
Caroli disease: review of eight cases with emphasis on magnetic resonance imaging features. 61
21543986 2011
66
[Caroli disease--dilatation of intrahepatic bile ducts]. 61
21838130 2011
67
Meckel syndrome with Caroli disease and choledochal cysts. 61
21843058 2011
68
Cholangiocarcinoma: A position paper by the Italian Society of Gastroenterology (SIGE), the Italian Association of Hospital Gastroenterology (AIGO), the Italian Association of Medical Oncology (AIOM) and the Italian Association of Oncological Radiotherapy (AIRO). 61
20702152 2010
69
Hepatocellular carcinoma arising in association with von-Meyenburg's complexes: an incidental finding or precursor lesions? A clinicopatholigic study of 4 cases. 61
20850692 2010
70
[Monolobar Caroli disease]. 61
20202783 2010
71
Experience of a single center with congenital hepatic fibrosis: a review of the literature. 61
20135715 2010
72
Management of choledochal cyst: 30 years of experience and results in a single center. 61
20006015 2009
73
Hepatic abscesses after liver transplant: 1997-2008. 61
20353378 2009
74
Resection and reconstruction of the right hepatic vein with combined S4, S7 and S8 segmentectomy. 61
19892629 2009
75
[A case of caroli disease with biliary stones]. 61
19844138 2009
76
Caroli disease and the central dot sign. 61
19221729 2009
77
[Diagnosis and treatment tactics of Caroli disease]. 61
19957743 2009
78
Fibropolycystic liver disease in children. 61
19083218 2009
79
Hardikar syndrome: long term outcome of a rare genetic disorder. 61
18348269 2008
80
Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. 61
18216545 2008
81
Diffuse cystic disease of the lung associated with simultaneous bilateral spontaneous pneumothorax: an unknown component of Caroli disease? 61
17003526 2008
82
Congenital cholestatic syndromes: what happens when children grow up? 61
18026579 2007
83
Congenital intrahepatic bile duct dilatation is a potentially curable disease: long-term results of a multi-institutional study. 61
17667502 2007
84
Percutaneous ipsilateral portal vein embolization using a modified four-lumen balloon catheter with fibrin glue: initial clinical experience. 61
17514367 2007
85
[Living related liver transplantation - analysis of the first 102 cases]. 61
17625275 2007
86
Central diabetes insipidus associated with Caroli syndrome. 61
17476092 2007
87
Hepatolithiasis: a Turkey experience. 61
17450492 2007
88
Caroli disease. 61
17290729 2007
89
Living-related liver transplantation in pediatric patients. 61
16213328 2005
90
Fibropolycystic liver disease: CT and MR imaging findings. 61
15888616 2005
91
Hepatic cirrhosis caused by Caroli disease. 61
15879635 2005
92
[Caroli disease in a kidney transplant patient with polycystic kidney disease]. 61
16053017 2005
93
Congenital choledochal cysts in adults. 61
15302695 2004
94
Biliary cystic disease. 61
14647122 2003
95
[Congenital cystic disease of the biliary system in adults]. 61
14756026 2003
96
Malignancy after liver transplantation in patients with premalignant conditions. 61
12702989 2003
97
[Complex type Caroli disease: radiologic findings]. 61
14661316 2003
98
[Hepatic resection in localized Caroli disease]. 61
12708257 2003
99
MRI for evaluating congenital bile duct abnormalities. 61
12218818 2002
100
Carcinomatous arteriopathy as an unusual feature of pulmonary spread of cholangiocarcinoma arising in Caroli disease. 61
12033963 2002
101
Malignant intrahepatic biliary papillomatosis associated with viral C cirrhosis. 61
11860318 2002
102
[Primary cholangiocarcinoma associated with Caroli disease]. 61
12080880 2001
103
Case 38: Caroli disease and renal tubular ectasia. 61
11526273 2001
104
[Constrictive pericarditis and monolobular hepatic cysts. Monolobular Caroli disease]. 61
11599166 2001
105
Cystic focal liver lesions in the adult: differential CT and MR imaging features. 61
11452064 2001
106
Cavernous pancreatic ductal ectasia with smooth muscle proliferation causing recurrent acute pancreatitis. 61
11876255 2001
107
Cholangiocarcinoma occurring in a liver with multiple bile duct hamartomas (von Meyenburg complexes). 61
11079031 2000
108
[Initial diagnosis of Caroli disease in a 71-year old man]. 61
11006878 2000
109
CAROLI DISEASE AND CAROLI SYNDROME. 61
28775611 1999
110
Endoscopic Diagnosis of Biliary Tract Lesions Using Hydrostatic Balloon Sphincter Dilation: A Preliminary Experience. 61
30650926 1998
111
[Caroli disease: a case report and review of literature]. 61
9713658 1998
112
[Caroli disease: a therapeutic dilemma in a poorly defined disease]. 61
9713661 1998
113
Central dot sign in entities other than Caroli disease. 61
9495788 1997
114
[Echographic aspects of Caroli disease]. 61
8965766 1996
115
[Left single-lobe Caroli disease discovered during intraoperative cholecystography ... or how a routine cholecystectomy can lead to left hepatectomy]. 61
7782381 1995
116
[Caroli disease and hepatobiliary fibropolycystic disease]. 61
8581727 1995
117
Congenital abnormalities of the pancreas and biliary tree in adults. 61
7899613 1995
118
[A case of pure unilobar Caroli disease]. 61
7738122 1994
119
[Mucoserous papillary adenocarcinoma complicating Caroli disease treated by hepatic resection: a case report. Review of the literature]. 61
1485397 1992
120
Portal hypertension caused by biliary cirrhosis. 61
1884948 1991
121
Caroli disease: computed tomographic diagnosis. 61
1879642 1991
122
Choledochal cyst and congenital hepatic fibrosis. 61
2286900 1990
123
Central dot sign on CT of liver cysts. 61
2229550 1990
124
Pitfalls and differential diagnosis in biliary sonography. 61
2183299 1990
125
[Congenital cystic dilatation of the intrahepatic bile ducts (Caroli disease)]. 61
2331736 1990
126
Caroli disease: central dot sign in CT. 61
2294544 1990
127
[2 cases of the diffuse form of Caroli disease]. 61
2800861 1989
128
The CT appearance of cystic masses of the liver. 61
2538868 1989
129
[Caroli disease limited to a single liver lobe]. 61
3347315 1988
130
[Congenital cystoid dilatation of the intrahepatic bile ducts]. 61
3617371 1987
131
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. 61
3812591 1987
132
[Caroli's disease: congenital cystic and segmentary dilatation of the intrahepatic bile ducts]. 61
3270119 1987
133
Caroli disease: high-frequency US and pathologic findings. 61
3510448 1986
134
Sonographic and computed tomographic evaluation of intrahepatic calculi. 61
3895868 1985
135
[Caroli disease]. 61
3849889 1985
136
[Clinical considerations on a case of Caroli disease]. 61
6462510 1984
137
[Congenital dilatation of the intrahepatic bile ducts associated with hepatic fibrosis (Caroli disease II): echographic and scintigraphic aspects in a 7-year-old girl]. 61
6658046 1983
138
Radionuclide hepatobiliary imaging in congenital biliary tract ectasia (Caroli disease). 61
7110761 1982
139
Diagnosis of Caroli disease. 61
7400911 1980
140
Case of the day. Case 5. Congenital dilatation of intrahepatic bile ducts (? caroli disease). 61
6770656 1980
141
Diagnosis of Caroli disease. 61
7351613 1980
142
Diagnosis of Caroli disease by computed tomography: report of two cases. 61
472244 1979
143
Caroli disease: the diagnostic approach. 61
448528 1979
144
[Congenital intrahepatic cysts of the bile ducts (Caroli disease) (author's transl)]. 61
4420555 1974

Variations for Caroli Disease, Isolated

Expression for Caroli Disease, Isolated

Search GEO for disease gene expression data for Caroli Disease, Isolated.

Pathways for Caroli Disease, Isolated

GO Terms for Caroli Disease, Isolated

Sources for Caroli Disease, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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