MCID: PLY023
MIFTS: 53

Polycystic Liver Disease

Categories: Rare diseases, Genetic diseases, Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Polycystic Liver Disease

MalaCards integrated aliases for Polycystic Liver Disease:

Name: Polycystic Liver Disease 12 49 36 28 13 51 14 69
Isolated Polycystic Liver Disease 49 55
Pcld 49 55
Isolated Autosomal Dominant Polycystic Liver Disease 49
Autosomal Dominant Polycystic Liver Disease 55
Adpcld 55

Characteristics:

Orphanet epidemiological data:

55
isolated polycystic liver disease
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050770
Orphanet 55 ORPHA2924
MESH via Orphanet 42 C536330
UMLS via Orphanet 70 C0158683
ICD10 via Orphanet 33 Q44.6
KEGG 36 H00545
UMLS 69 C0158683

Summaries for Polycystic Liver Disease

NIH Rare Diseases : 49 Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease. Last updated: 6/22/2011

MalaCards based summary : Polycystic Liver Disease, also known as isolated polycystic liver disease, is related to polycystic liver disease 1 and polycystic kidney disease 1, and has symptoms including abnormality of the pancreas, gastroesophageal reflux and abdominal pain. An important gene associated with Polycystic Liver Disease is PRKCSH (Protein Kinase C Substrate 80K-H), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. The drugs lanreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and pancreas, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Polycystic Liver Disease

Diseases in the Polycystic Liver Disease family:

Polycystic Liver Disease 1 Polycystic Liver Disease 2

Diseases related to Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 polycystic liver disease 1 33.5 PKD1 PKD2 PKHD1 PRKCSH SEC63
2 polycystic kidney disease 1 29.6 PKD1 PKD2 PKHD1 PRKCSH
3 polycystic kidney disease 29.6 GANAB PKD1 PKD2 PKDREJ PKHD1
4 kidney disease 29.2 ALB PKD1 PKD2 PKDREJ PKHD1
5 polycystic kidney disease 2 28.6 PKD1 PKD2 PKDREJ PKHD1 PRKCSH SEC63
6 autosomal dominant polycystic kidney disease 28.3 ALB AQP1 GANAB PKD1 PKD2 PKDREJ
7 polycystic liver disease 2 12.4
8 liver disease 10.9
9 hepatitis 10.4
10 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.4 PKD1 PKD2
11 lymphatic malformations 10.3 PKD1 PKD2
12 caroli disease 10.3 PKD1 PKHD1
13 congenital hepatic fibrosis 10.3 PKD1 PKHD1
14 bardet-biedl syndrome 17 10.2 PKD1 PKD2
15 polycystic kidney disease 5 10.1 PKD1 PKD2 PKHD1
16 cystic kidney disease 10.1 PKD1 PKD2 PKHD1
17 oligohydramnios 10.1 AQP1 PKHD1
18 obstructive jaundice 10.0
19 nephronophthisis 10.0 PKD1 PKD2 PKHD1
20 portal hypertension 10.0
21 aneurysm 10.0
22 infantile liver failure syndrome 1 9.9
23 renal-hepatic-pancreatic dysplasia 9.9 PKDREJ PKHD1
24 ascending cholangitis 9.9 ALB PKDREJ
25 chronic kidney failure 9.9 ALB PKD1 PKD2
26 hepatocellular carcinoma 9.8
27 budd-chiari syndrome 9.8
28 cerebritis 9.8
29 cerebral aneurysms 9.8
30 polycystic kidney disease 3 9.8 GANAB PKD1 PKD2 PKDREJ
31 antipyrine metabolism 9.7
32 lipomatosis, multiple 9.7
33 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
34 congenital disorder of glycosylation, type in 9.7
35 salmonellosis 9.7
36 intracranial aneurysm 9.7
37 sclerosing cholangitis 9.7
38 neuroendocrine tumor 9.7
39 leiomyosarcoma 9.7
40 adenocarcinoma 9.7
41 cystadenocarcinoma 9.7
42 schneiderian carcinoma 9.7
43 pancreatitis 9.7
44 carotid artery dissection 9.7
45 cholangitis 9.7
46 meningitis 9.7
47 lymphangiomatosis 9.7
48 autosomal genetic disease 9.6 PKD1 PKD2 PKDREJ PKHD1 PRKCSH
49 sialolithiasis 9.5 ALB LRP5
50 hypertension, essential 9.5 ALB PKD1 PKD2

Comorbidity relations with Polycystic Liver Disease via Phenotypic Disease Network (PDN):


Chronic Kidney Failure Polycystic Kidney Disease

Graphical network of the top 20 diseases related to Polycystic Liver Disease:



Diseases related to Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Liver Disease

Human phenotypes related to Polycystic Liver Disease:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pancreas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001732
2 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
3 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
4 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
5 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
6 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
7 abdominal distention 55 31 hallmark (90%) Very frequent (99-80%) HP:0003270
8 back pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0003418
9 increased total bilirubin 55 31 occasional (7.5%) Occasional (29-5%) HP:0003573
10 multiple renal cysts 55 31 frequent (33%) Frequent (79-30%) HP:0005562
11 polycystic liver disease 55 31 hallmark (90%) Very frequent (99-80%) HP:0006557
12 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
13 abnormality of the respiratory system 55 Occasional (29-5%)
14 aneurysm 55 Occasional (29-5%)
15 dilatation 31 occasional (7.5%) HP:0002617

UMLS symptoms related to Polycystic Liver Disease:


hepatosplenomegaly

GenomeRNAi Phenotypes related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.1 PRKCSH
2 Decreased viability GR00221-A-2 9.1 PRKCSH
3 Decreased viability GR00221-A-3 9.1 PRKCSH
4 Decreased viability GR00301-A 9.1 BUB1 PKD2 PRKCSH

MGI Mouse Phenotypes related to Polycystic Liver Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 BUB1 SEC63 LRP5 NXN PKD1 PKD2
2 endocrine/exocrine gland MP:0005379 9.86 LRP5 NXN PKD1 PKD2 ALB PKHD1
3 liver/biliary system MP:0005370 9.81 SEC63 LRP5 NXN PKD1 PKD2 ALB
4 mortality/aging MP:0010768 9.65 PRKCSH BUB1 SEC63 LRP5 NXN PKD1
5 renal/urinary system MP:0005367 9.17 SEC63 PKD1 PKD2 ALB PKHD1 AQP1

Drugs & Therapeutics for Polycystic Liver Disease

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lanreotide Approved Phase 2, Phase 3 108736-35-2
2
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
3
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 6400441 383414
4
Ethanol Approved Phase 3 64-17-5 702
5 Angiopeptin Phase 2, Phase 3
6 Liver Extracts Phase 2, Phase 3
7 Hormone Antagonists Phase 2, Phase 3
8 Hormones Phase 2, Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
10 Antineoplastic Agents, Hormonal Phase 2, Phase 3
11 Gastrointestinal Agents Phase 2, Phase 3
12 Anti-Infective Agents Phase 3,Phase 2
13 Anti-Infective Agents, Local Phase 3
14 Central Nervous System Depressants Phase 3
15 Pharmaceutical Solutions Phase 3
16
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
17
Everolimus Approved Phase 2 159351-69-6 6442177
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
20 Cholagogues and Choleretics Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antibiotics, Antitubercular Phase 2
23 Antifungal Agents Phase 2
24 Immunosuppressive Agents Phase 2
25
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
26
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
27
Mycophenolic acid Approved 24280-93-1 446541
28
Prednisone Approved, Vet_approved 53-03-2 5865
29
Tacrolimus Approved, Investigational 104987-11-3 445643 439492
30 tannic acid Approved, Nutraceutical
31 Anti-Inflammatory Agents
32 Antitubercular Agents
33 Calcineurin Inhibitors
34 glucocorticoids

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
2 Lanreotide Autogel in the Treatment of Symptomatic Polycystic Liver Disease Completed NCT01315795 Phase 2, Phase 3 Lanreotide Autogel 90 mg and 120 mg
3 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
4 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
5 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
6 Efficacy of Combining Pasireotide With Aspiration Sclerotherapy to Improve Volume Reduction of Hepatic Cysts Completed NCT02048319 Phase 3 Pasireotide LAR 60 mg;Placebo
7 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
8 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
9 Everolimus and LongActing Octreotide Trial in Polycystic Livers Completed NCT01157858 Phase 2 Everolimus;Octreotide LAR
10 Pasireotide LAR in Severe Polycystic Liver Disease Active, not recruiting NCT01670110 Phase 2 Pasireotide LAR;Placebo
11 Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q). Unknown status NCT02173080
12 Somatostatin Analogues as a Volume Reducing Treatment of Polycystic Livers (RESOLVE) Completed NCT01354405 Lanreotide
13 The Vienna RAP Pilot Study Completed NCT01632605 Sirolimus
14 Polycystic Liver Disease in Kidney Transplant Terminated NCT00934791 Tacrolimus;Sirolimus;Mycophenolate Mofetil;Prednisone

Search NIH Clinical Center for Polycystic Liver Disease

Genetic Tests for Polycystic Liver Disease

Genetic tests related to Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 28

Anatomical Context for Polycystic Liver Disease

MalaCards organs/tissues related to Polycystic Liver Disease:

38
Liver, Kidney, Pancreas, Breast

Publications for Polycystic Liver Disease

Articles related to Polycystic Liver Disease:

(show top 50) (show all 284)
# Title Authors Year
1
The combination of an HDAC6 inhibitor and a somatostatin receptor agonist synergistically reduces hepato-renal cystogenesis in an animal model of polycystic liver disease. ( 29366679 )
2018
2
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. ( 29243290 )
2018
3
Impact of liver volume on polycystic liver disease-related symptoms and quality of life. ( 29435317 )
2018
4
Center is an important indicator for choice of invasive therapy in polycystic liver disease. ( 27732751 )
2017
5
Genetics: Novel causative genes for polycystic liver disease. ( 28559591 )
2017
6
Polycystic liver disease: Hepatic venous outflow obstruction lesions of the non-cystic parenchyma have major consequences. ( 29023812 )
2017
7
Hepatobiliary and Pancreatic: A unique case of HPV related metastatic Schneiderian carcinoma presenting as polycystic liver disease. ( 28052462 )
2017
8
Polycystic Liver Disease: The interplay of genes causative for hepatic and renal cystogenesis. ( 29211938 )
2017
9
Tolvaptan for the Treatment of Enlarged Polycystic Liver Disease. ( 29034246 )
2017
10
Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease. ( 28611533 )
2017
11
The Longitudinal Study of Liver Cysts inA Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease. ( 29142941 )
2017
12
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28375157 )
2017
13
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
14
Cholangiocyte autophagy contributes to hepatic cystogenesis in polycystic liver disease and represents a potential therapeutic target. ( 29023824 )
2017
15
Liver Transplantation for Polycystic Liver Disease Due to Huge Liver With Related Complications: A Case Report. ( 28340841 )
2017
16
TGR5 contributes to hepatic cystogenesis in rodents with polycystic liver diseases through cyclic adenosine monophosphate/GI+s signaling. ( 28543567 )
2017
17
Transarterial Embolization for Treatment of Symptomatic Polycystic Liver Disease: More than 2-year Follow-up. ( 28776546 )
2017
18
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28862642 )
2017
19
An update on the pathophysiology and management of polycystic liver disease. ( 28317394 )
2017
20
Everolimus halts hepatic cystogenesis in a rodent model of polycystic-liver-disease. ( 28852309 )
2017
21
Clinical management of polycystic liver disease. ( 29175241 )
2017
22
Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies of Portal Hypertension. ( 28280650 )
2017
23
Risk factors for progressive polycystic liver disease: where do we stand? ( 26681732 )
2016
24
Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes. ( 28018103 )
2016
25
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. ( 27552964 )
2016
26
Isolated polycystic liver disease and aneurism: a case report. ( 27275480 )
2016
27
Adult polycystic liver disease concomitant with severe anemia due to intracystic bleeding is indicated to liver transplantation: case report and review of literature. ( 26945526 )
2016
28
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016
29
Polycystic Liver Disease: The Benefits of Targeting cAMP. ( 26972981 )
2016
30
Monoethanolamine Oleate Sclerotherapy for Polycystic Liver Disease. ( 27750233 )
2016
31
Transgastric removal of a polycystic liver disease using mini-laparoscopic excision. ( 28386465 )
2016
32
Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in polycystic liver disease. ( 27826057 )
2016
33
Medical therapy for polycystic liver disease. ( 26688394 )
2016
34
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease. ( 27571215 )
2016
35
Outcomes and Durability of Hepatic Reduction after Combined Partial Hepatectomy and Cyst Fenestration for Massive Polycystic Liver Disease. ( 27016902 )
2016
36
Fatal liver cyst rupture in polycystic liver disease complicated with autosomal dominant polycystic kidney disease: A case report. ( 27050907 )
2016
37
Polycystic liver disease complicated by obstructive jaundice. ( 26718392 )
2016
38
Laparoscopic surgery and polycystic liver disease: Clinicopathological features and new trends in management. ( 27279400 )
2016
39
Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease. ( 26838488 )
2016
40
Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. ( 26970415 )
2016
41
Ursodeoxycholic acid in advanced polycystic liver disease: an international multicenter randomized controlled phase 2 trial: CURSOR: Controlled trial of URSOdeoxycholic acid to Reduce liver volume in polycystic liver disease. ( 27212247 )
2016
42
Management of symptomatic polycystic liver disease with hepatic resection. ( 25427319 )
2015
43
Lanreotide Reduces Liver Volume, But Might Not Improve Muscle Wasting or Weight Loss, in Patients With Symptomatic Polycystic Liver Disease. ( 26073493 )
2015
44
Somatostatin analogues improve health-related quality of life in polycystic liver disease: a pooled analysis of two randomised, placebo-controlled trials. ( 26129925 )
2015
45
An Unusual Cause of a High Carbonhydrate Antigen 19-9 Level in an Elderly Individual: Polycystic Liver Disease. ( 26189862 )
2015
46
Development and validation of a polycystic liver disease complaint-specific assessment (POLCA) - Use of the Delphi technique for content validation. ( 25529621 )
2015
47
Biliary duct hamartomas in polycystic liver disease. ( 26272967 )
2015
48
Therapeutic Targets In Polycystic Liver Disease. ( 25915482 )
2015
49
Hepatic Intracystic Organizing Hematoma Mimicking Biliary Cystadenocarcinoma in a Patient with Polycystic Liver Disease. ( 26278291 )
2015
50
Comparison of volume-reductive therapies for massive polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26190457 )
2015

Variations for Polycystic Liver Disease

Expression for Polycystic Liver Disease

Search GEO for disease gene expression data for Polycystic Liver Disease.

Pathways for Polycystic Liver Disease

Pathways related to Polycystic Liver Disease according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

Pathways related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 GANAB PRKCSH SEC63

GO Terms for Polycystic Liver Disease

Cellular components related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.5 ALB ALG8 GANAB LRP5 PKD2 PRKCSH
2 basolateral plasma membrane GO:0016323 9.43 AQP1 PKD1 PKD2
3 basal plasma membrane GO:0009925 9.16 AQP1 PKD2
4 polycystin complex GO:0002133 8.62 PKD1 PKD2

Biological processes related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.69 PKD1 PKD2 PKDREJ
2 kidney development GO:0001822 9.67 PKD1 PKD2 PKHD1
3 neural tube development GO:0021915 9.56 PKD1 PKD2
4 spinal cord development GO:0021510 9.55 PKD1 PKD2
5 JAK-STAT cascade GO:0007259 9.54 PKD1 PKD2
6 embryonic placenta development GO:0001892 9.52 PKD1 PKD2
7 placenta blood vessel development GO:0060674 9.48 PKD1 PKD2
8 cytoplasmic sequestering of transcription factor GO:0042994 9.46 PKD1 PKD2
9 liver development GO:0001889 9.46 PKD1 PKD2 PRKCSH SEC63
10 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.43 PKD1 PKD2
11 nitrogen compound metabolic process GO:0006807 9.43 PKD1 PRKCSH SEC63
12 mesonephric tubule development GO:0072164 9.4 PKD1 PKD2
13 mesonephric duct development GO:0072177 9.37 PKD1 PKD2
14 metanephric ascending thin limb development GO:0072218 9.32 PKD1 PKD2
15 detection of mechanical stimulus GO:0050982 9.13 PKD1 PKD2 PKDREJ
16 renal system development GO:0072001 8.92 PKD1 PKD2 PRKCSH SEC63

Molecular functions related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein binding GO:0051219 9.26 PKD2 PRKCSH
2 channel activity GO:0015267 9.16 AQP1 PKD2
3 ion channel binding GO:0044325 9.13 PKD1 PKD2 PRKCSH
4 calcium channel activity GO:0005262 8.8 PKD1 PKD2 PKDREJ

Sources for Polycystic Liver Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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