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MCID: CRL006
MIFTS: 27

Caroli Disease, Isolated

Categories: Fetal diseases, Liver diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Caroli Disease, Isolated

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Liver diseases
See all MalaCards categories (disease lists)
ICD10: 33
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
Sources

Summaries for Caroli Disease, Isolated

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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
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Related Diseases for Caroli Disease, Isolated

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

(show all 45)
# 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
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Symptoms & Phenotypes for Caroli Disease, Isolated

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Human phenotypes related to Caroli Disease, Isolated:

31 (show all 9)
# 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
Sources

Drugs & Therapeutics for Caroli Disease, Isolated

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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, Isolated

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Genetic Tests for Caroli Disease, Isolated

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Anatomical Context for Caroli Disease, Isolated

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MalaCards organs/tissues related to Caroli Disease, Isolated:

40
Liver, Kidney, Smooth Muscle, Lung, Pancreas
Sources

Publications for Caroli Disease, Isolated

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Articles related to Caroli Disease, Isolated:

(show top 50) (show all 144)
# 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
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Variations for Caroli Disease, Isolated

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Expression for Caroli Disease, Isolated

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

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GO Terms for Caroli Disease, Isolated

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Sources for Caroli Disease, Isolated

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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
49 NCIt
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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