MCID: CRL004
MIFTS: 40

Caroli Disease malady

Categories: Rare diseases, Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Caroli Disease

Aliases & Descriptions for Caroli Disease:

Name: Caroli Disease 12 50 42 14 69
Caroli Syndrome 56 29
Congenital Polycystic Dilatation of Intrahepatic Bile Ducts 50
Cystic Dilatation of the Intrahepatic Biliary Tree 50
Caroli Disease Isolated 50
Carolis Disease 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0050876
MeSH 42 D016767
NCIt 47 C84619
SNOMED-CT 64 111331000
Orphanet 56 ORPHA480520
UMLS 69 C0162510

Summaries for Caroli Disease

NIH Rare Diseases : 50 caroli disease is a rare disorder characterized by abnormal widening of the large intrahepatic bile ducts. it may present with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. age of onset is variable and mainly females are affected. the more common variant of this disease, caroli syndrome, is characterized by dilations of the large bile duct in association with congenital hepatic fibrosis. patients with caroli syndrome may present with signs and symptoms of portal hypertension, bacterial cholangitis, hepatomegaly, splenomegaly, esophageal varices, and gastrointestinal hemorrhage. caroli syndrome may be found in association with autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, medullary sponge kidney, and medullary cystic disease. caroli disease may be sporadic or autosomal dominant, whereas caroli syndrome is generally transmitted in an autosomal recessive manner. last updated: 5/19/2011

MalaCards based summary : Caroli Disease, also known as caroli syndrome, is related to caroli disease, isolated and polyp of corpus uteri. An important gene associated with Caroli Disease is PKHD1 (PKHD1, Fibrocystin/Polyductin), and among its related pathways/superpathways are Brain-Derived Neurotrophic Factor (BDNF) signaling pathway and Fluid shear stress and atherosclerosis. The drugs lanreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are Increased viability with TRAIL and cellular

Disease Ontology : 12 A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.

Wikipedia : 71 Caroli disease is a rare inherited disorder characterized by dilation of the intrahepatic bile ducts.... more...

Related Diseases for Caroli Disease

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



Diseases related to Caroli Disease

Symptoms & Phenotypes for Caroli Disease

GenomeRNAi Phenotypes related to Caroli Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with TRAIL GR00154-A 8.62 MAP2K5 MAPK7

MGI Mouse Phenotypes related to Caroli Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 MAP2K5 MAPK7 PKD1 PKHD1 WDR19
2 digestive/alimentary MP:0005381 9.67 MAPK7 PKD1 PKHD1 WDR19
3 growth/size/body region MP:0005378 9.65 MAP2K5 MAPK7 PKD1 PKHD1 WDR19
4 embryo MP:0005380 9.62 MAP2K5 MAPK7 PKD1 WDR19
5 mortality/aging MP:0010768 9.55 MAP2K5 MAPK7 PKD1 PKHD1 WDR19
6 muscle MP:0005369 9.26 PKD1 WDR19 MAP2K5 MAPK7
7 normal MP:0002873 8.92 MAP2K5 MAPK7 PKD1 PKHD1

Drugs & Therapeutics for Caroli Disease

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

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 2, Phase 3 108736-35-2
2
Somatostatin Approved Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
3 Hormones Phase 2, Phase 3
4 Angiopeptin Phase 2, Phase 3
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
7 Liver Extracts Phase 3
8
Pancrelipase Approved 53608-75-6
9 Androgens
10 Alpha 1-Antitrypsin
11 pancreatin
12 Protein C Inhibitor

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 A Study Evaluating Lanreotide as Maintenance Therapy in Patients With Non-Resectable Duodeno-Pancreatic Neuroendocrine Tumors (REMINET) Recruiting NCT02288377 Phase 2, Phase 3
2 Efficacy Evaluation of TheraSphere Following Failed First Line Chemotherapy in Metastatic Colorectal Cancer Recruiting NCT01483027 Phase 3
3 Efficacy and Safety of Aflibercept in Combination With FOLFIRI Chemotherapy as 1st Line Treatment for Patients With Metastatic Colorectal Cancer Recruiting NCT02181556 Phase 2
4 Prevalence of Human Papillomavirus in Barrett Esophagus Compared With Controls Completed NCT02549053
5 A Study Into the Effectivity and Safety of Firmagon, Prescribed for Treatment of Patients With Advanced Prostate Cancer Completed NCT01215526
6 Chorioamnionitis and Proinflammatory S100A12 Completed NCT02996279
7 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
8 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
9 Impact of DietarY and LIfestyle Risk Factors on Colorectal Cancer Screening Recruiting NCT02804802
10 Impact of EDUcation Strategy on Patients With COLorectal CANCER or Advanced Adenoma in the Detection of Colorectal Cancer of Their First-degree Relatives Recruiting NCT03084133
11 Multi-center Prospective Study Determining the Sustainability of Pain Relief and Psychosocial and Functional Responses When Utilizing a Multiple Waveform Enabled Neurostimulator Recruiting NCT03082261
12 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Caroli Disease

Cochrane evidence based reviews: caroli disease

Genetic Tests for Caroli Disease

Genetic tests related to Caroli Disease:

id Genetic test Affiliating Genes
1 Caroli Disease 29

Anatomical Context for Caroli Disease

MalaCards organs/tissues related to Caroli Disease:

39
Kidney, Liver, Lung

Publications for Caroli Disease

Articles related to Caroli Disease:

(show all 24)
id Title Authors Year
1
Response to letter on Caroli disease. ( 27188889 )
2016
2
Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with caroli disease. ( 25907884 )
2015
3
Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease. ( 26596209 )
2015
4
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
5
Fever and right upper quadrant pain in a 24-year-old male. Caroli disease and splenomegaly suggesting portal hypertension. ( 24870623 )
2014
6
Education and imaging. Hepatobiliary and pancreatic: focal caroli disease mimicking cholangiocarcinoma. ( 24712045 )
2014
7
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. ( 24710345 )
2014
8
Caroli disease associated with vein of Galen malformation in a male child. ( 24958584 )
2014
9
Cholangiocarcinoma or Caroli disease: a case presentation. ( 24834275 )
2013
10
Left-hemihepatectomy as a method of treatment of locally limited Caroli disease. ( 24413206 )
2013
11
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
12
Liver transplantation for caroli disease. ( 25013645 )
2012
13
Unusual renal manifestation of Caroli disease: AA amyloidosis. ( 22681158 )
2012
14
Caroli disease with bilateral severe bullous emphysema. An unknown component. ( 23147882 )
2012
15
Caroli disease patients have excellent survival after liver transplant. ( 22640887 )
2012
16
Meckel syndrome with Caroli disease and choledochal cysts. ( 21843058 )
2011
17
Caroli disease: review of eight cases with emphasis on magnetic resonance imaging features. ( 21543986 )
2011
18
Caroli disease and the central dot sign. ( 19221729 )
2009
19
Diffuse cystic disease of the lung associated with simultaneous bilateral spontaneous pneumothorax: an unknown component of Caroli disease? ( 17003526 )
2008
20
Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. ( 18216545 )
2008
21
Caroli disease. ( 17290729 )
2007
22
Hepatic cirrhosis caused by Caroli disease. ( 15879635 )
2005
23
Carcinomatous arteriopathy as an unusual feature of pulmonary spread of cholangiocarcinoma arising in Caroli disease. ( 12033963 )
2002
24
Case 38: Caroli disease and renal tubular ectasia. ( 11526273 )
2001

Variations for Caroli Disease

Expression for Caroli Disease

Search GEO for disease gene expression data for Caroli Disease.

Pathways for Caroli Disease

GO Terms for Caroli Disease

Cellular components related to Caroli Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.33 PKD1 PKHD1 WDR19
2 motile cilium GO:0031514 8.96 PKD1 WDR19
3 cilium GO:0005929 8.8 PKD1 PKHD1 WDR19

Biological processes related to Caroli Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 single organismal cell-cell adhesion GO:0016337 9.46 PKD1 PKHD1
2 kidney development GO:0001822 9.43 PKD1 PKHD1
3 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.4 MAP2K5 PKHD1
4 cellular response to growth factor stimulus GO:0071363 9.37 MAP2K5 MAPK7
5 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.32 MAP2K5 MAPK7
6 positive regulation of protein metabolic process GO:0051247 9.26 MAP2K5 MAPK7
7 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.16 MAP2K5 MAPK7
8 cellular response to laminar fluid shear stress GO:0071499 8.96 MAP2K5 MAPK7
9 negative regulation of response to cytokine stimulus GO:0060761 8.62 MAP2K5 MAPK7

Sources for Caroli Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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