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 58
Caroli Disease 60 74

Characteristics:

Orphanet epidemiological data:

60
caroli disease
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
caroli disease, isolated:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600643
MESH via Orphanet 46 C531647 D016767
ICD10 via Orphanet 35 Q44.6
UMLS via Orphanet 75 C0162510 C1833541
Orphanet 60 ORPHA53035
MedGen 43 C1833541
UMLS 74 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). The drugs Pancrelipase and pancreatin have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and lung, and related phenotypes are hepatomegaly and portal hypertension

Description 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 20)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 with or without polycystic liver disease 11.5
2 caroli disease 11.3
3 cholangiocarcinoma 10.2
4 intrahepatic cholangiocarcinoma 10.1
5 kidney disease 10.1
6 polycystic kidney disease 10.1
7 polydactyly, postaxial, type a1 9.9
8 polydactyly 9.9
9 nephronophthisis 3 9.9
10 nephronophthisis 13 9.9
11 portal hypertension 9.9
12 nephronophthisis 9.9
13 pneumothorax 9.9
14 situs inversus 9.9
15 amyloidosis 9.9
16 cholangitis 9.9
17 amyloidosis aa 9.9
18 renal dysplasia diffuse cystic 9.9
19 splenomegaly 9.9
20 renal dysplasia 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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 33 HP:0002240
2 portal hypertension 33 HP:0001409
3 vomiting 33 HP:0002013
4 esophageal varix 33 HP:0002040
5 liver abscess 33 HP:0100523
6 epigastric pain 33 HP:0410019
7 cholangitis 33 HP:0030151
8 recurrent fever 33 HP:0001954
9 dilatation 33 HP:0002617

Symptoms via clinical synopsis from OMIM:

58
G I:
hepatomegaly
portal hypertension
vomiting
liver abscess
epigastric pain
more
Misc:
polycystic kidney disease association
recurrent episodic fever

Clinical features from OMIM:

600643

Drugs & Therapeutics for Caroli Disease, Isolated

Drugs for Caroli Disease, Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational 53608-75-6
2 pancreatin
3 Protein C Inhibitor
4 Alpha 1-Antitrypsin
5 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
2 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource 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:

42
Liver, Kidney, Lung

Publications for Caroli Disease, Isolated

Articles related to Caroli Disease, Isolated:

(show all 39)
# Title Authors Year
1
Liver resection and transplantation in Caroli disease and syndrome. ( 29929811 )
2019
2
Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis. ( 30879585 )
2019
3
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
4
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. ( 28633199 )
2017
5
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. ( 26596209 )
2016
6
Response to letter on Caroli disease. ( 27188889 )
2016
7
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
8
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease. ( 25907884 )
2015
9
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. ( 24710345 )
2014
10
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. ( 24712045 )
2014
11
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. ( 24870623 )
2014
12
Caroli disease associated with vein of Galen malformation in a male child. ( 24958584 )
2014
13
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
14
Left-hemihepatectomy as a method of treatment of locally limited Caroli disease. ( 24413206 )
2013
15
Cholangiocarcinoma or Caroli disease: a case presentation. ( 24834275 )
2013
16
Caroli disease patients have excellent survival after liver transplant. ( 22640887 )
2012
17
Unusual renal manifestation of Caroli disease: AA amyloidosis. ( 22681158 )
2012
18
Caroli disease with bilateral severe bullous emphysema. An unknown component. ( 23147882 )
2012
19
Liver transplantation for caroli disease. ( 25013645 )
2012
20
Caroli disease: review of eight cases with emphasis on magnetic resonance imaging features. ( 21543986 )
2011
21
Meckel syndrome with Caroli disease and choledochal cysts. ( 21843058 )
2011
22
Caroli disease and the central dot sign. ( 19221729 )
2009
23
Diffuse cystic disease of the lung associated with simultaneous bilateral spontaneous pneumothorax: an unknown component of Caroli disease? ( 17003526 )
2008
24
Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. ( 18216545 )
2008
25
Caroli disease. ( 17290729 )
2007
26
Hepatic cirrhosis caused by Caroli disease. ( 15879635 )
2005
27
Carcinomatous arteriopathy as an unusual feature of pulmonary spread of cholangiocarcinoma arising in Caroli disease. ( 12033963 )
2002
28
Case 38: Caroli disease and renal tubular ectasia. ( 11526273 )
2001
29
CAROLI DISEASE AND CAROLI SYNDROME. ( 28775611 )
1999
30
Central dot sign in entities other than Caroli disease. ( 9495788 )
1997
31
Caroli disease: computed tomographic diagnosis. ( 1879642 )
1991
32
Caroli disease: central dot sign in CT. ( 2294544 )
1990
33
Caroli disease: high-frequency US and pathologic findings. ( 3510448 )
1986
34
Radionuclide hepatobiliary imaging in congenital biliary tract ectasia (Caroli disease). ( 7110761 )
1982
35
Case of the day. Case 5. Congenital dilatation of intrahepatic bile ducts (? caroli disease). ( 6770656 )
1980
36
Diagnosis of Caroli disease. ( 7351613 )
1980
37
Diagnosis of Caroli disease. ( 7400911 )
1980
38
Caroli disease: the diagnostic approach. ( 448528 )
1979
39
Diagnosis of Caroli disease by computed tomography: report of two cases. ( 472244 )
1979

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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