MCID: CRL006
MIFTS: 25

Caroli Disease, Isolated

Categories: Liver diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Caroli Disease, Isolated

MalaCards integrated aliases for Caroli Disease, Isolated:

Name: Caroli Disease, Isolated 57
Caroli Disease 59 73

Characteristics:

Orphanet epidemiological data:

59
caroli disease
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
caroli disease, isolated:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600643
Orphanet 59 ORPHA53035
UMLS via Orphanet 74 C1833541 C0162510
MESH via Orphanet 45 C531647 D016767
ICD10 via Orphanet 34 Q44.6
MedGen 42 C1833541

Summaries for Caroli Disease, Isolated

MalaCards based summary : Caroli Disease, Isolated, also known as caroli disease, is related to caroli disease. An important gene associated with Caroli Disease, Isolated is PKHD1 (PKHD1, 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 portal hypertension and fever

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:

# Related Disease Score Top Affiliating Genes
1 caroli disease 11.1

Symptoms & Phenotypes for Caroli Disease, Isolated

Symptoms via clinical synopsis from OMIM:

57
GI:
congenital polycystic dilatation of intrahepatic bile ducts
cholangitis
liver abscess
epigastric pain
vomiting
more
Misc:
polycystic kidney disease association
recurrent episodic fever


Clinical features from OMIM:

600643

Human phenotypes related to Caroli Disease, Isolated:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 portal hypertension 32 HP:0001409
2 fever 32 HP:0001945
3 vomiting 32 HP:0002013
4 esophageal varix 32 HP:0002040
5 hepatomegaly 32 HP:0002240
6 cholangitis 32 HP:0030151
7 liver abscess 32 HP:0100523
8 epigastric pain 32 HP:0410019

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 Alpha 1-Antitrypsin
4 Protein C Inhibitor
5 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
2 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
3 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

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:

41
Liver, Kidney, Lung

Publications for Caroli Disease, Isolated

Articles related to Caroli Disease, Isolated:

(show all 27)
# Title Authors Year
1
Liver resection and transplantation in Caroli disease and syndrome. ( 29929811 )
2018
2
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
3
Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. ( 28633199 )
2017
4
Response to letter on Caroli disease. ( 27188889 )
2016
5
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
6
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with caroli disease. ( 25907884 )
2015
7
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. ( 26596209 )
2015
8
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. ( 24710345 )
2014
9
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. ( 24712045 )
2014
10
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. ( 24870623 )
2014
11
Caroli disease associated with vein of Galen malformation in a male child. ( 24958584 )
2014
12
Cholangiocarcinoma or Caroli disease: a case presentation. ( 24834275 )
2013
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
Unusual renal manifestation of Caroli disease: AA amyloidosis. ( 22681158 )
2012
16
Liver transplantation for caroli disease. ( 25013645 )
2012
17
Caroli disease with bilateral severe bullous emphysema. An unknown component. ( 23147882 )
2012
18
Caroli disease patients have excellent survival after liver transplant. ( 22640887 )
2012
19
Caroli disease: review of eight cases with emphasis on magnetic resonance imaging features. ( 21543986 )
2011
20
Meckel syndrome with Caroli disease and choledochal cysts. ( 21843058 )
2011
21
Caroli disease and the central dot sign. ( 19221729 )
2009
22
Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. ( 18216545 )
2008
23
Diffuse cystic disease of the lung associated with simultaneous bilateral spontaneous pneumothorax: an unknown component of Caroli disease? ( 17003526 )
2008
24
Caroli disease. ( 17290729 )
2007
25
Hepatic cirrhosis caused by Caroli disease. ( 15879635 )
2005
26
Carcinomatous arteriopathy as an unusual feature of pulmonary spread of cholangiocarcinoma arising in Caroli disease. ( 12033963 )
2002
27
Case 38: Caroli disease and renal tubular ectasia. ( 11526273 )
2001

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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