MCID: CRL006
MIFTS: 28

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 57
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®:

57 (Updated 05-Mar-2021)
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® 57 600643
MESH via Orphanet 45 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 caroli disease and polycystic kidney disease 4 with or without polycystic liver 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:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 caroli disease 11.2
2 polycystic kidney disease 4 with or without polycystic liver disease 11.1
3 cholangitis 10.5
4 portal hypertension 10.4
5 cholangiocarcinoma 10.4
6 intrahepatic cholangiocarcinoma 10.4
7 congenital hepatic fibrosis 10.3
8 polycystic kidney disease 10.2
9 kidney disease 10.1
10 bile duct cysts 10.0
11 polydactyly 10.0
12 choledocholithiasis 10.0
13 acute pancreatitis 10.0
14 end stage renal disease 10.0
15 autosomal dominant polycystic kidney disease 10.0
16 splenomegaly 10.0
17 ciliopathy 10.0
18 renal dysplasia 10.0
19 pneumothorax, primary spontaneous 9.9
20 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
21 nephronophthisis 3 9.9
22 cholangitis, primary sclerosing 9.9
23 nephronophthisis 13 9.9
24 autosomal recessive disease 9.9
25 polycystic liver disease 9.9
26 arteriovenous malformation 9.9
27 constrictive pericarditis 9.9
28 primary biliary cholangitis 9.9
29 nephronophthisis 9.9
30 cholestasis 9.9
31 sclerosing cholangitis 9.9
32 acute cholangitis 9.9
33 pneumothorax 9.9
34 pericarditis 9.9
35 adenocarcinoma 9.9
36 papillary adenocarcinoma 9.9
37 liver disease 9.9
38 pancreatitis 9.9
39 liver cirrhosis 9.9
40 congestive heart failure 9.9
41 situs inversus 9.9
42 lung disease 9.9
43 amyloidosis 9.9
44 amyloidosis aa 9.9
45 encephalocele 9.9
46 hepatic cystic hamartoma 9.9
47 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:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 Occasional (29-5%) HP:0002240
2 vomiting 58 31 Occasional (29-5%) HP:0002013
3 portal hypertension 58 31 Very rare (<4-1%) HP:0001409
4 liver abscess 58 31 Very rare (<4-1%) HP:0100523
5 esophageal varix 58 31 Occasional (29-5%) HP:0002040
6 cholangitis 58 31 Frequent (79-30%) HP:0030151
7 splenomegaly 58 Occasional (29-5%)
8 fever 58 Occasional (29-5%)
9 ascites 58 Occasional (29-5%)
10 hepatic fibrosis 58 Very rare (<4-1%)
11 biliary cirrhosis 58 Very rare (<4-1%)
12 cholelithiasis 58 Occasional (29-5%)
13 jaundice 58 Frequent (79-30%)
14 abdominal pain 58 Frequent (79-30%)
15 anorexia 58 Occasional (29-5%)
16 polycystic kidney dysplasia 58 Occasional (29-5%)
17 weight loss 58 Occasional (29-5%)
18 hyperbilirubinemia 58 Occasional (29-5%)
19 pruritus 58 Occasional (29-5%)
20 recurrent fever 31 HP:0001954
21 intrahepatic cholestasis 58 Frequent (79-30%)
22 elevated alkaline phosphatase 58 Frequent (79-30%)
23 cholangiocarcinoma 58 Very rare (<4-1%)
24 nausea 58 Occasional (29-5%)
25 chills 58 Occasional (29-5%)
26 epigastric pain 31 HP:0410019
27 elevated gamma-glutamyltransferase activity 58 Frequent (79-30%)
28 conjunctival icterus 58 Occasional (29-5%)
29 periportal fibrosis 58 Excluded (0%)
30 elevated serum alanine aminotransferase 58 Occasional (29-5%)
31 abdominal rigidity 58 Occasional (29-5%)
32 abnormal levels of alpha-fetoprotein 58 Excluded (0%)
33 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
G I:
hepatomegaly
vomiting
portal hypertension
liver abscess
epigastric pain
more
Misc:
polycystic kidney disease association
recurrent episodic fever

Clinical features from OMIM®:

600643 (Updated 05-Mar-2021)

Drugs & Therapeutics for Caroli Disease, Isolated

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Magnetic Resonance CholangioPancreatography Signs for the Diagnosis of Caroli Disease Recruiting NCT04007575
2 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998

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:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 61 57
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. 57
7672768 1995
3
Biliary secretion in a patient with cystic dilation of the intrahepatic biliary tree. 57
5656335 1968
4
Congenital dilation of the intrahepatic bile ducts. 57
5902263 1966
5
[Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification]. 57
13543375 1958
6
Laparoscopic liver resection in Caroli disease: A single-centre case series. 61
33353891 2021
7
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 2020
8
[Clinicopathological features of Caroli disease/Caroli syndrome: an analysis of 21 cases]. 61
33086452 2020
9
Type IV choledochal cyst with polycystic kidney disease: a case report. 61
32957915 2020
10
Risk of malignancy in Caroli disease and syndrome: A systematic review. 61
32884228 2020
11
Caroli Disease: A Presentation of Acute Pancreatitis and Cholangitis. 61
32789075 2020
12
Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis. 61
31027922 2020
13
[Laparoscopic Left Hemihepatectoy Applying Intraoperative Indocyanine Green Fluorescence Detection Counter Perfusion Method for Visualization]. 61
31711247 2020
14
Revisiting Caroli Syndrome in a Tanzanian Patient. 61
32089970 2020
15
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families. 61
32292534 2020
16
Diagnosis of Congenital Hepatic Fibrosis in Adulthood. 61
31584623 2020
17
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
18
Liver transplantation for severe portopulmonary hypertension: A case report and literature review. 61
31750339 2019
19
Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases. 61
31165788 2019
20
Large-duct cholangiopathies: aetiology, diagnosis and treatment. 61
31288256 2019
21
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations. 61
30852632 2019
22
Role of Transplant in Biliary Disease. 61
30846041 2019
23
Liver resection and transplantation in Caroli disease and syndrome. 61
29929811 2019
24
Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis. 61
30879585 2019
25
Cholangiolocellular Carcinoma With "Ductal Plate Malformation" Pattern May Be Characterized by ARID1A Genetic Alterations. 61
30520820 2019
26
Blockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat. 61
30036521 2018
27
Hepatic morphology abnormalities: beyond cirrhosis. 61
29043403 2018
28
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
29
[Upper abdominal pain and febrile episodes in a 44-year-old Filipino woman]. 61
28939930 2018
30
Laparoscopic hepatectomy for the treatment of Caroli's disease: a case report. 61
29520352 2018
31
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. 61
28669735 2017
32
[A case of Caroli disease in Tibet, China]. 61
29108211 2017
33
Congenital hepatic fibrosis in a 9-year-old female patient - a case report. 61
29062909 2017
34
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 61
28621010 2017
35
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. 61
28633199 2017
36
Canine Breed-Specific Hepatopathies. 61
28081863 2017
37
Factors associated with long-term survival after liver transplantation: A retrospective cohort study. 61
28357030 2017
38
Unusual Indications for a Liver Transplant: A Single-Center Experience. 61
28260452 2017
39
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. 61
26596209 2016
40
Accessory gallbladder in an intrahepatic location mimicking a cystic tumor of the liver: A case report. 61
27858902 2016
41
Response to letter on Caroli disease. 61
27188889 2016
42
Imaging of Von Meyenburg complexes. 61
26522945 2016
43
Hepatorenal fibrocystic diseases in children. 61
26260382 2016
44
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 61
26385851 2015
45
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 61
25726036 2015
46
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease. 61
25907884 2015
47
Segmental cholangiectasia clinically worrisome for cholangiocarcinoma: comparison with recurrent pyogenic cholangitis. 61
25600951 2015
48
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. 61
24870623 2014
49
Liver involvement in children with ciliopathies. 61
24953524 2014
50
Caroli disease associated with vein of Galen malformation in a male child. 61
24958584 2014

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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