PCLD
MCID: PLY023
MIFTS: 56

Polycystic Liver Disease (PCLD)

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Polycystic Liver Disease

MalaCards integrated aliases for Polycystic Liver Disease:

Name: Polycystic Liver Disease 12 54 38 30 13 56 6 15 74
Isolated Polycystic Liver Disease 54 60
Pcld 54 60
Isolated Autosomal Dominant Polycystic Liver Disease 54
Autosomal Dominant Polycystic Liver Disease 60
Congenital Cystic Liver Disease 12
Fibrocystic Liver Disease 12
Liver Disease, Polycystic 41
Congenital Hepatic Cyst 12
Adpcld 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050770
KEGG 38 H00545
MESH via Orphanet 46 C536330
ICD10 via Orphanet 35 Q44.6
UMLS via Orphanet 75 C0158683
Orphanet 60 ORPHA2924
UMLS 74 C0158683

Summaries for Polycystic Liver Disease

NIH Rare Diseases : 54 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.

MalaCards based summary : Polycystic Liver Disease, also known as isolated polycystic liver disease, is related to polycystic kidney disease 3 with or without polycystic liver disease and polycystic liver disease 1 with or without kidney cysts, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease is GANAB (Glucosidase II Alpha Subunit), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Protein export. 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 hepatomegaly and abdominal distention

Disease Ontology : 12 An autosomal dominant disease that is characterized by the presence of multiple cysts located in the liver.

Wikipedia : 77 Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout... more...

Related Diseases for Polycystic Liver Disease

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 34.2 GANAB PKD1 PKD2
2 polycystic liver disease 1 with or without kidney cysts 34.0 LRP5 PKD1 PKD2 PKHD1 PRKCSH SEC63
3 polycystic kidney disease 1 with or without polycystic liver disease 33.8 FBN1 PKD1 PKD2 PKHD1 PRKCSH
4 polycystic kidney disease 2 with or without polycystic liver disease 33.3 GANAB PKD1 PKD2 PKHD1 PRKCSH SEC63
5 polycystic kidney disease 4 with or without polycystic liver disease 33.3 ALG8 PKD1 PKD2 PKHD1 PRKCSH SEC61B
6 congenital hepatic fibrosis 32.2 PKD1 PKHD1
7 liver disease 30.4 ALB ALG8 GANAB LRP5 PKD1 PKD2
8 kidney disease 30.2 ALB GANAB PKD1 PKD2 PKHD1
9 portal hypertension 29.9 ALB PKHD1 SST
10 polycystic kidney disease 29.7 GANAB LRP5 MIR15A PKD1 PKD2 PKHD1
11 autosomal dominant polycystic kidney disease 29.5 ALB AQP1 GANAB LRP5 PKD1 PKD2
12 polycystic liver disease 2 with or without kidney cysts 12.6
13 polycystic liver disease 3 with or without kidney cysts 12.6
14 polycystic liver disease 4 with or without kidney cysts 12.6
15 polycystic kidney disease 6 with or without polycystic liver disease 12.6
16 lymphatic malformations 10.3 PKD1 PKD2
17 ciliary dyskinesia, primary, 30 10.3 CCDC151 PRKCSH
18 multicystic dysplastic kidney 10.3 PKD1 PKD2
19 caroli disease 10.3 PKD1 PKHD1
20 mass syndrome 10.3 FBN1 LRP5
21 obstructive jaundice 10.2
22 autosomal genetic disease 10.1 PKD1 PKD2 TRPV1
23 infantile liver failure syndrome 1 10.0
24 hepatocellular carcinoma 9.9
25 budd-chiari syndrome 9.9
26 nonalcoholic fatty liver disease 9.9
27 cerebral aneurysms 9.9
28 tricuspid valve insufficiency 9.9 ALB FBN1
29 yellow nail syndrome 9.9 ALB SST
30 chylothorax, congenital 9.8 ALB SST
31 antipyrine metabolism 9.8
32 cholangiocarcinoma 9.8
33 polycystic ovary syndrome 9.8
34 sclerosing cholangitis 9.8
35 neuroendocrine tumor 9.8
36 leiomyosarcoma 9.8
37 acute pancreatitis 9.8
38 adenocarcinoma 9.8
39 cystadenocarcinoma 9.8
40 schneiderian carcinoma 9.8
41 pancreatitis 9.8
42 carotid artery dissection 9.8
43 cholangitis 9.8
44 fatty liver disease 9.8
45 lymphangiomatosis 9.8
46 recurrent acute pancreatitis 9.8
47 esophageal varix 9.7 ALB SST
48 urinary system disease 9.7 ALB PKD1 PKD2 TRPV1
49 pancreas disease 9.7 ALB SST TRPV1
50 glucose metabolism disease 9.7 ALB SST TRPV1

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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
2 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
3 polycystic liver disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0006557
4 multiple renal cysts 60 33 frequent (33%) Frequent (79-30%) HP:0005562
5 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
6 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
7 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
8 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
9 back pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0003418
10 abnormality of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001732
11 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
12 increased total bilirubin 60 33 occasional (7.5%) Occasional (29-5%) HP:0003573
13 dilatation 33 occasional (7.5%) HP:0002617
14 abnormality of the respiratory system 60 Occasional (29-5%)
15 aneurysm 60 Occasional (29-5%)

UMLS symptoms related to Polycystic Liver Disease:


hepatosplenomegaly

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 AQP1 NXN PKD2 SEC61B SEC63 SST
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 AQP1 NXN PKD2 SEC61B SEC63 SST

MGI Mouse Phenotypes related to Polycystic Liver Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 ALB BUB1 CCDC151 FBN1 LRP5 NXN
2 cardiovascular system MP:0005385 10.11 AQP1 CCDC151 FBN1 LRP5 NXN PKD1
3 growth/size/body region MP:0005378 10.11 AQP1 BUB1 CCDC151 FBN1 LRP5 NXN
4 endocrine/exocrine gland MP:0005379 10.1 ALB AQP1 BUB1 CCDC151 FBN1 LRP5
5 homeostasis/metabolism MP:0005376 10.06 ALB AQP1 BUB1 FBN1 LRP5 PKD1
6 immune system MP:0005387 9.91 BUB1 CCDC151 FBN1 LRP5 PKD1 PKD2
7 liver/biliary system MP:0005370 9.85 ALB BUB1 LRP5 NXN PKD1 PKD2
8 mortality/aging MP:0010768 9.73 ALB AQP1 BUB1 FBN1 LRP5 NXN
9 renal/urinary system MP:0005367 9.28 ALB AQP1 FBN1 PKD1 PKD2 PKHD1

Drugs & Therapeutics for Polycystic Liver Disease

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 2, Phase 3,Phase 3 108736-35-2
2
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 3 38916-34-6, 51110-01-1 53481605
3
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 6400441 383414
4
Pasireotide Approved Phase 3,Phase 2 396091-73-9 9941444
5
Ethanol Approved Phase 3 64-17-5 702
6 Angiopeptin Phase 2, Phase 3,Phase 3
7 Liver Extracts Phase 2, Phase 3,Phase 3,Not Applicable
8 Hormone Antagonists Phase 2, Phase 3,Phase 3,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3,Not Applicable
10 Hormones Phase 2, Phase 3,Phase 3,Not Applicable
11 Gastrointestinal Agents Phase 2, Phase 3
12 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Not Applicable
13 Central Nervous System Depressants Phase 3
14 Anti-Infective Agents, Local Phase 3
15 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
16 Pharmaceutical Solutions Phase 3
17
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
18
Everolimus Approved Phase 2,Not Applicable 159351-69-6 6442177 70789204
19
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
20
Sirolimus Approved, Investigational Phase 2,Not Applicable 53123-88-9 46835353 6436030 5284616
21 Cholagogues and Choleretics Phase 2
22 Immunologic Factors Phase 2,Not Applicable
23 Antibiotics, Antitubercular Phase 2,Not Applicable
24 Antifungal Agents Phase 2,Not Applicable
25 Immunosuppressive Agents Phase 2,Not Applicable
26 Anti-Bacterial Agents Phase 2,Not Applicable
27
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
28
tannic acid Approved Not Applicable 1401-55-4
29
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
30
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
31
Tacrolimus Approved, Investigational Not Applicable 104987-11-3 445643 439492 6473866
32 Antitubercular Agents Not Applicable
33 Calcineurin Inhibitors Not Applicable
34 glucocorticoids Not Applicable
35 Anti-Inflammatory Agents Not Applicable

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 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
6 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
7 Efficacy of Combining Pasireotide With Aspiration Sclerotherapy to Improve Volume Reduction of Hepatic Cysts Completed NCT02048319 Phase 3 Pasireotide LAR 60 mg;Placebo
8 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
9 Pasireotide LAR in Severe Polycystic Liver Disease Active, not recruiting NCT01670110 Phase 2 Pasireotide LAR;Placebo
10 Everolimus and LongActing Octreotide Trial in Polycystic Livers Completed NCT01157858 Phase 2 Everolimus;Octreotide LAR
11 Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q). Unknown status NCT02173080
12 Polycystic Liver Disease in Kidney Transplant Terminated NCT00934791 Not Applicable Tacrolimus;Sirolimus;Mycophenolate Mofetil;Prednisone
13 Somatostatin Analogues as a Volume Reducing Treatment of Polycystic Livers (RESOLVE) Completed NCT01354405 Lanreotide
14 The Vienna RAP Pilot Study Completed NCT01632605 Not Applicable Sirolimus

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 30

Anatomical Context for Polycystic Liver Disease

MalaCards organs/tissues related to Polycystic Liver Disease:

42
Liver, Kidney, Pancreas, Breast

The Foundational Model of Anatomy Ontology organs/tissues related to Polycystic Liver Disease:

20
The Liver

Publications for Polycystic Liver Disease

Articles related to Polycystic Liver Disease:

(show top 50) (show all 295)
# Title Authors Year
1
Recurrent acute pancreatitis in a patient with both gallbladder and cystic duct agenesis and polycystic liver disease. ( 30792840 )
2019
2
Impact of liver volume on polycystic liver disease-related symptoms and quality of life. ( 29435317 )
2018
3
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
4
Liver Transplant for Unusually Large Polycystic Liver Disease: Challenges and Pitfalls. ( 29487756 )
2018
5
Isolated Polycystic Liver Disease: An Unusual Cause of Recurrent Variceal Bleed. ( 29971171 )
2018
6
Scanning electron microscopy of polycystic liver disease. ( 29520518 )
2018
7
Multicentric Study of the Andalusian Experience in Polycystic Liver Disease as Indication for Liver Transplantation. ( 29579867 )
2018
8
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. ( 29243290 )
2018
9
Modified technique of total hepatectomy in polycystic liver disease with caval flow preservation: the exposure left lateral sectionectomy. ( 30444803 )
2018
10
TIMING AND TREATMENT OPTIONS IN ADULT POLYCYSTIC LIVER DISEASE: A RARE FAMILIAR CASE AS EXAMPLE. ( 30539986 )
2018
11
Treatment of polycystic liver disease. Update on the management. ( 30145049 )
2018
12
An in vitro model of polycystic liver disease using genome-edited human inducible pluripotent stem cells. ( 30172093 )
2018
13
Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry. ( 30225933 )
2018
14
Intravascular US Guidance for Direct Intrahepatic Portosystemic Shunt Creation in the Setting of Polycystic Liver Disease. ( 30266228 )
2018
15
Drug holiday in patients with polycystic liver disease treated with somatostatin analogues. ( 30302127 )
2018
16
Liver Transplantation for Polycystic Liver Disease Due to Huge Liver With Related Complications: A Case Report. ( 28340841 )
2017
17
Genetics: Novel causative genes for polycystic liver disease. ( 28559591 )
2017
18
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
19
Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies of Portal Hypertension. ( 28280650 )
2017
20
Transarterial Embolization for Treatment of Symptomatic Polycystic Liver Disease: More than 2-year Follow-up. ( 28776546 )
2017
21
Tolvaptan for the Treatment of Enlarged Polycystic Liver Disease. ( 29034246 )
2017
22
Clinical management of polycystic liver disease. ( 29175241 )
2017
23
Everolimus halts hepatic cystogenesis in a rodent model of polycystic-liver-disease. ( 28852309 )
2017
24
Hepatobiliary and Pancreatic: A unique case of HPV related metastatic Schneiderian carcinoma presenting as polycystic liver disease. ( 28052462 )
2017
25
Cholangiocyte autophagy contributes to hepatic cystogenesis in polycystic liver disease and represents a potential therapeutic target. ( 29023824 )
2017
26
Center is an important indicator for choice of invasive therapy in polycystic liver disease. ( 27732751 )
2017
27
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28862642 )
2017
28
Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease. ( 28611533 )
2017
29
An update on the pathophysiology and management of polycystic liver disease. ( 28317394 )
2017
30
The Longitudinal Study of Liver Cysts inA Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease. ( 29142941 )
2017
31
Polycystic Liver Disease: The interplay of genes causative for hepatic and renal cystogenesis. ( 29211938 )
2017
32
Polycystic liver disease: Hepatic venous outflow obstruction lesions of the non-cystic parenchyma have major consequences. ( 29023812 )
2017
33
Transgastric removal of a polycystic liver disease using mini-laparoscopic excision. ( 28386465 )
2016
34
Polycystic Liver Disease: The Benefits of Targeting cAMP. ( 26972981 )
2016
35
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
36
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
37
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease. ( 27571215 )
2016
38
Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease. ( 26838488 )
2016
39
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. ( 27552964 )
2016
40
Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes. ( 28018103 )
2016
41
Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. ( 26970415 )
2016
42
Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in polycystic liver disease. ( 27826057 )
2016
43
Monoethanolamine Oleate Sclerotherapy for Polycystic Liver Disease. ( 27750233 )
2016
44
Outcomes and Durability of Hepatic Reduction after Combined Partial Hepatectomy and Cyst Fenestration for Massive Polycystic Liver Disease. ( 27016902 )
2016
45
Polycystic liver disease complicated by obstructive jaundice. ( 26718392 )
2016
46
Isolated polycystic liver disease and aneurism: a case report. ( 27275480 )
2016
47
Fatal liver cyst rupture in polycystic liver disease complicated with autosomal dominant polycystic kidney disease: A case report. ( 27050907 )
2016
48
Laparoscopic surgery and polycystic liver disease: Clinicopathological features and new trends in management. ( 27279400 )
2016
49
Risk factors for progressive polycystic liver disease: where do we stand? ( 26681732 )
2016
50
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016

Variations for Polycystic Liver Disease

ClinVar genetic disease variations for Polycystic Liver Disease:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 GANAB NM_198335.3(GANAB): c.2656C> T (p.Arg886Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 62626369: 62626369
2 GANAB NM_198335.3(GANAB): c.2656C> T (p.Arg886Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 62393841: 62393841
3 GANAB NM_198335.3(GANAB): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 62626639: 62626639
4 GANAB NM_198335.3(GANAB): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 62394111: 62394111
5 GANAB NM_198335.3(GANAB): c.2006A> G (p.Asp669Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 62629009: 62629009
6 GANAB NM_198335.3(GANAB): c.2006A> G (p.Asp669Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 62396481: 62396481
7 GANAB NM_198335.3(GANAB): c.2002+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 11, 62629193: 62629193
8 GANAB NM_198335.3(GANAB): c.2002+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 11, 62396665: 62396665
9 GANAB NM_198335.3(GANAB): c.1852C> T (p.Arg618Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 62629636: 62629636
10 GANAB NM_198335.3(GANAB): c.1852C> T (p.Arg618Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 62397108: 62397108
11 GANAB NM_198335.3(GANAB): c.1835G> C (p.Arg612Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 62629653: 62629653
12 GANAB NM_198335.3(GANAB): c.1835G> C (p.Arg612Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 62397125: 62397125
13 GANAB NM_198335.3(GANAB): c.687del (p.Asp229Glufs) deletion Pathogenic GRCh38 Chromosome 11, 62633454: 62633454
14 GANAB NM_198335.3(GANAB): c.687del (p.Asp229Glufs) deletion Pathogenic GRCh37 Chromosome 11, 62400926: 62400926
15 GANAB NM_198335.3(GANAB): c.38G> A (p.Arg13Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 62646562: 62646562
16 GANAB NM_198335.3(GANAB): c.38G> A (p.Arg13Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 62414034: 62414034

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:

38
# 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 11.24 DNAJB11 GANAB PRKCSH SEC61B SEC63
2 10.32 SEC61B 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 cilium GO:0005929 9.67 CCDC151 PKD1 PKD2 PKHD1
2 endoplasmic reticulum lumen GO:0005788 9.65 ALB DNAJB11 FBN1 GANAB PRKCSH
3 ciliary basal body GO:0036064 9.5 CCDC151 PKD2 PKHD1
4 endoplasmic reticulum GO:0005783 9.28 ALB ALG8 DNAJB11 GANAB LRP5 PKD2
5 glucosidase II complex GO:0017177 9.16 GANAB PRKCSH
6 polycystin complex GO:0002133 8.96 PKD1 PKD2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 9.75 PKD1 PKD2 TRPV1
2 calcium ion transport GO:0006816 9.73 PKD1 PKD2 TRPV1
3 calcium ion transmembrane transport GO:0070588 9.71 PKD1 PKD2 TRPV1
4 kidney development GO:0001822 9.62 FBN1 PKD1 PKD2 PKHD1
5 JAK-STAT cascade GO:0007259 9.57 PKD1 PKD2
6 embryonic placenta development GO:0001892 9.55 PKD1 PKD2
7 N-glycan processing GO:0006491 9.52 GANAB PRKCSH
8 detection of mechanical stimulus GO:0050982 9.51 PKD1 PKD2
9 placenta blood vessel development GO:0060674 9.49 PKD1 PKD2
10 cytoplasmic sequestering of transcription factor GO:0042994 9.48 PKD1 PKD2
11 hyperosmotic response GO:0006972 9.46 AQP1 SST
12 liver development GO:0001889 9.46 PKD1 PKD2 PRKCSH SEC63
13 mesonephric tubule development GO:0072164 9.43 PKD1 PKD2
14 mesonephric duct development GO:0072177 9.4 PKD1 PKD2
15 metanephric ascending thin limb development GO:0072218 9.37 PKD1 PKD2
16 posttranslational protein targeting to membrane, translocation GO:0031204 9.26 SEC61B SEC63
17 nitrogen compound metabolic process GO:0006807 9.13 PKD1 PRKCSH SEC63
18 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 ion channel binding GO:0044325 9.33 PKD1 PKD2 PRKCSH
2 calcium channel activity GO:0005262 9.13 PKD1 PKD2 TRPV1
3 phosphoprotein binding GO:0051219 8.8 PKD2 PRKCSH TRPV1

Sources for Polycystic Liver Disease

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
Content
Loading form....