PCLD
MCID: PLY023
MIFTS: 60

Polycystic Liver Disease (PCLD) malady

Genetic diseases, Rare diseases, Liver diseases categories

Summaries for Polycystic Liver Disease

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Polycystic Liver Disease, also known as isolated polycystic liver disease, is related to polycystic kidney disease and intracranial aneurysm, and has symptoms including structural anomalies of the respiratory system and diaphragm, arterial aneurism (excluding aorta) and polycystic liver disease/hepatic cysts. An important gene associated with Polycystic Liver Disease is PRKCSH (protein kinase C substrate 80K-H), and among its related pathways are Angiogenesis and G protein signaling H RAS regulation pathway. The compounds trp-p-2 and tween have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and pancreas, and related mouse phenotypes are digestive/alimentary and embryogenesis.

Wikipedia:66 Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout... more...

Description from OMIM:48 174050

Aliases & Classifications for Polycystic Liver Disease

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 50 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

50
isolated polycystic liver disease:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

polycystic liver disease 9 10 44 21 48 11 46 63
isolated polycystic liver disease 44 50
pcld 44 50
isolated autosomal dominant polycystic liver disease 44
autosomal dominant polycystic liver disease 50
adpcld 50


External Ids:

Disease Ontology9 DOID:0050770
OMIM48 174050
MESH via Orphanet37 C536330
ICD10 via Orphanet27 Q44.6
SNOMED-CT via Orphanet60 72925005
UMLS via Orphanet64 C0158683

Related Diseases for Polycystic Liver Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Polycystic Liver Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease30.7PRKCSH, PKD1, PKHD1, PKD2
2intracranial aneurysm30.2PKD2, PKD1
3hepatocellular carcinoma30.0TEK, EPCAM, ANGPT1, ANGPT2, PCNA
4adenocarcinoma29.9TEK, EPCAM, ANGPT1, ANGPT2, PCNA, TRPV1
5liver disease11.2
6hepatitis10.7
7kidney disease10.4
8obstructive jaundice10.4
9portal hypertension10.3
10hypertension10.3
11aneurysm10.3
12cerebritis10.2
13cerebral aneurysms10.2
14polycystic kidney disease, autosomal dominant10.1PKD1, PKD2
15polycystic kidney disease, type 210.1PKD1, PKD2
16nephronophthisis10.1PKD2, PKD1
17congenital hepatic fibrosis10.1PKHD1
18caroli disease10.1PKD1, PKHD1
19cystic kidney10.1PKD1, PKD2, PKD1P6
20carotid artery dissection10.1
21sclerosing cholangitis10.1
22cholangitis10.1
23congenital disorder of glycosylation10.1
24leiomyosarcoma10.1
25lipoma10.1
26meningitis10.1
27neuroendocrine tumor10.1
28oral-facial-digital syndrome type i10.1
29campomelia cumming type10.1
30lymphangiomatosis10.1
31polycystic kidney and hepatic disease10.1
32somatostatin analog10.1
33meckel syndrome 110.1
34tuberous sclerosis10.1PKD1, PKHD1, PKD1P6
35primary hyperoxaluria10.0PKD1, PKHD1, PKD2
36polycystic kidney disease, autosomal recessive10.0PRKCSH, PKD1, PKHD1, PKD2
37pyogenic granuloma10.0TEK, ANGPT1, ANGPT2
38angiosarcoma10.0ANGPT2, ANGPT1, TEK
39hemangioma10.0ANGPT2, ANGPT1, TEK
40thyroid cancer10.0TEK, ANGPT1, ANGPT2
41gastric ulcer10.0TRPV1, ANGPT1
42acute myocardial infarction10.0TEK, ANGPT1, ANGPT2
43endometriosis10.0ANGPT2, ANGPT1, TEK
44galactosemia10.0PKHD1, PKD1, EPCAM
45vascular disease10.0TEK, ANGPT1, ANGPT2
46pre-eclampsia10.0TEK, ANGPT1, ANGPT2
47brain cancer10.0TEK, ANGPT1, ANGPT2
48non-small cell lung carcinoma10.0TEK, ANGPT1, PCNA
49malignant glioma10.0PCNA, ANGPT2, ANGPT1
50sepsis10.0TEK, ANGPT1, ANGPT2

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



Diseases related to polycystic liver disease

Symptoms for Polycystic Liver Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

174050

Clinical features from OMIM:

174050

Symptoms:

50 (show all 14)
  • structural anomalies of the respiratory system and diaphragm
  • arterial aneurism (excluding aorta)
  • polycystic liver disease/hepatic cysts
  • polycystic kidneys
  • structural anomalies of the pancreas
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • acute abdominal pain/colic
  • hepatitis/icterus/cholestasis
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • early death/lethality
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • autosomal dominant inheritance
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia

Drugs & Therapeutics for Polycystic Liver Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Polycystic Liver Disease

Drug clinical trials:

Search ClinicalTrials for Polycystic Liver Disease

Search NIH Clinical Center for Polycystic Liver Disease

Search CenterWatch for Polycystic Liver Disease

Genetic Tests for Polycystic Liver Disease

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Sources:
21GeneTests
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Genetic tests related to Polycystic Liver Disease:

id Genetic test Affiliating Genes
1 Polycystic Liver Disease21 SEC63

Anatomical Context for Polycystic Liver Disease

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Sources:
34MalaCards
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MalaCards organs/tissues related to Polycystic Liver Disease:

34
Liver, Kidney, Pancreas, Lung, Breast

Animal Models for Polycystic Liver Disease or affiliated genes

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Sources:
38MGI
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Publications for Polycystic Liver Disease

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Sources:
53PubMed
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Articles related to Polycystic Liver Disease:

(show top 50)    (show all 204)
idTitleAuthorsYear
1
Safety and efficacy of different lanreotide doses in the treatment of polycystic liver disease: pooled analysis of individual patient data. (23799922)
2013
2
Neuroendocrine tumor in the liver of a patient with isolated polycystic liver disease: A case report and review of the literature. (23761831)
2013
3
Symptomatic Polycystic Liver Disease Treated With Transcatheter Hepatic Arterial Embolization and Inferior Vena Cava Stenting: A Case Report. (24325362)
2013
4
Fenestration treatment for polycystic liver disease improved quality of life. (23461935)
2013
5
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. (20138683)
2010
6
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. (19308730)
2010
7
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. (20095989)
2010
8
Polycystic liver disease treated with therapeutic excision. (19752867)
2009
9
Polycystic liver disease and liver transplantation: single-institution experience. (19917384)
2009
10
Carbohydrate antigen 19-9 is extremely elevated in polycystic liver disease. (19515221)
2009
11
Fulminant liver failure in a patient affected by polycystic liver disease and liver metastases from breast carcinoma. (19856678)
2009
12
Factors that influence outcome in non-invasive and invasive treatment in polycystic liver disease patients. (18506925)
2008
13
Whipple's procedure in a renal transplant recipient with polycystic liver disease. (18648145)
2008
14
Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. (17383431)
2007
15
Surgical management of polycystic liver disease. (17876869)
2007
16
Quality of life and liver transplantation in patients with polycystic liver disease. (16868956)
2006
17
Multiple cysts in the liver autosomal dominant polycystic liver disease. (16788219)
2006
18
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (16835903)
2006
19
Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. (16437702)
2005
20
Polycystic liver disease: experience at a teaching hospital. (16181371)
2005
21
Highly symptomatic adult polycystic liver disease: options and results of surgical management. (15315565)
2004
22
Mutations in SEC63 cause autosomal dominant polycystic liver disease. (15133510)
2004
23
Adult polycystic liver disease presenting as portal hypertension. (15717586)
2004
24
Is fenestration a safe treatment for adult polycystic liver disease?: A report of refractory complications. (15239269)
2004
25
Laparoscopic left lateral sectorectomy for polycystic liver disease. (12962449)
2003
26
Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. (12480558)
2003
27
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (12529853)
2003
28
Current status in the surgical management of adult polycystic liver disease. (11957561)
2002
29
Successful left trisegmentectomy for polycystic liver disease accompanied by jaundice. (11528144)
2001
30
The effect of fenestration procedure on liver regeneration in a case of polycystic liver disease. (11813611)
2001
31
Transjugular intrahepatic portosystemic shunt placement in the setting of polycystic liver disease: questioning the contraindication. (11535774)
2001
32
Symptomatic adult polycystic liver disease. (10989908)
2000
33
Transjugular intrahepatic portosystemic shunt for the treatment of intractable ascites in a patient with polycystic liver disease. (10821902)
2000
34
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. (11047756)
2000
35
A liver with polycystic liver disease as graft for orthotopic liver transplantation. (9642525)
1998
36
Liver transplantation in patients with polycystic liver disease. (9365580)
1997
37
Adult polycystic liver disease: is fenestration the most adequate operation for long-term management? (9060585)
1997
38
Obstructive jaundice associated with polycystic liver disease. (9184868)
1996
39
Hepatic venous outflow obstruction in patients with polycystic liver disease: pathogenesis and treatment. (7890219)
1995
40
Polycystic liver disease mimicking sclerosing cholangitis during endoscopic retrograde cholangiopancreatography. (8273783)
1994
41
Adult polycystic liver disease. (1935729)
1991
42
Polycystic liver disease: quantitation of parenchymal and cyst volumes from computed tomography images and clinical correlates of hepatic cysts. (3192176)
1988
43
MR imaging of multiple hepatic cysts in a patient with polycystic liver disease. (3320657)
1987
44
Adult polycystic liver disease and biliary microhamartomas (von Meyenburg's complexes). (3811921)
1986
45
Partial resection and fenestration in the treatment of polycystic liver disease. (6697135)
1984
46
Surgical resection in symptomatic polycystic liver disease. (6572276)
1983
47
The gallbladder in polycystic liver disease. (7054544)
1982
48
Autosomal dominant polycystic liver disease: a second family. (7116679)
1982
49
Obstructive jaundice caused by polycystic liver disease. (7403520)
1980
50
Jaundice associated with polycystic liver disease. (707711)
1978

Variations for Polycystic Liver Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Polycystic Liver Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1PRKCSHPRKCSH, IVS16, A-G, -2single nucleotide variantPathogenic/card/polycystic_liver_disease
2PRKCSHPRKCSH, IVS4, G-C, +1single nucleotide variantPathogenic/card/polycystic_liver_disease
3PRKCSHPRKCSH, 2-BP DEL, IVS16GT, +1deletionPathogenic/card/polycystic_liver_disease
4PRKCSHNM_002743.3(PRKCSH): c.1240C> T (p.Gln414Ter)single nucleotide variantPathogenicrs121918519GRCh37Chr 19, 11559419: 11559419
5PRKCSHNM_002743.3(PRKCSH): c.1269C> G (p.Tyr423Ter)single nucleotide variantPathogenicrs121918520GRCh37Chr 19, 11559732: 11559732
6PRKCSHPRKCSH, 1-BP INS, 216AinsertionPathogenic
7SEC63NM_007214.4(SEC63): c.173G> A (p.Trp58Ter)single nucleotide variantPathogenicrs119103233GRCh37Chr 6, 108250670: 108250670
8SEC63SEC63, 1-BP INS, 442AinsertionPathogenic
9SEC63SEC63, IVS8DS, G-A, +1single nucleotide variantPathogenic
10SEC63SEC63, GLU568 DELdeletionPathogenic

Expression for genes affiliated with Polycystic Liver Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Polycystic Liver Disease

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

Pathways for genes affiliated with Polycystic Liver Disease

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Sources:
51PathCards, 5Cell Signaling Technology, 39NCBI BioSystems Database, 61Thomson Reuters, 13EMD Millipore, 54QIAGEN, 56Reactome, 31KEGG
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Pathways related to Polycystic Liver Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Angiogenesis39
9.8TEK, ANGPT1
29.8ANGPT1, TEK
39.6PKD1, PKD2, TRPV1
4
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.5ANGPT2, ANGPT1, TEK
5
Show member pathways
9.5ANGPT2, ANGPT1, TEK
69.5TEK, ANGPT1, ANGPT2
79.4SEC63, SEC61A1
88.6GANAB, PRKCSH, SEC61A1, SEC63

Compounds for genes affiliated with Polycystic Liver Disease

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 52PharmGKB, 12DrugBank
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Compounds related to Polycystic Liver Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trp-p-24610.1PKD2, PKD1
2tween469.8TEK, ANGPT1
3matrigel469.5ANGPT2, ANGPT1, TEK
4paraffin468.9PCNA, ANGPT2, ANGPT1, EPCAM, TEK
5cyclosporin a46 30 6210.8ANGPT1, ANGPT2, PCNA, TRPV1
6thymidine46 259.7PCNA, ANGPT2, ANGPT1, EPCAM, TEK
7calcium46 52 25 1211.0LRP5, ANGPT1, ANGPT2, PKD1, PKHD1, PKD2

GO Terms for genes affiliated with Polycystic Liver Disease

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17Gene Ontology
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Cellular components related to Polycystic Liver Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:00213310.2PKD2, PKD1
2motile primary ciliumGO:03151210.2PKD2, PKD1
3mitotic spindleGO:07268610.0PKD2, PKHD1
4basal plasma membraneGO:0099259.9TEK, PKD2
5basolateral plasma membraneGO:0163239.7TEK, EPCAM, PKD1
6microvillusGO:0059029.7ANGPT1, TEK
7endoplasmic reticulumGO:0057839.6PKD2, PRKCSH, SEC63, LRP5
8apical plasma membraneGO:0163249.2TEK, EPCAM, PKHD1
9plasma membraneGO:0058868.2TEK, LRP5, EPCAM, ANGPT1, ANGPT2, PKD1
10extracellular vesicular exosomeGO:0700628.1EPCAM, ANGPT1, PKD1, PKHD1, PKD2, PCNA

Biological processes related to Polycystic Liver Disease according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1metanephric ascending thin limb developmentGO:07221810.3PKD1, PKD2
2mesonephric tubule developmentGO:07216410.3PKD1, PKD2
3renal system developmentGO:07200110.3PRKCSH, SEC63
4mesonephric duct developmentGO:07217710.3PKD2, PKD1
5positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.3PKD1, PKD2
6placenta blood vessel developmentGO:06067410.2PKD2, PKD1
7detection of mechanical stimulusGO:05098210.2PKD2, PKD1
8cytoplasmic sequestering of transcription factorGO:04299410.2PKD2, PKD1
9glomerulus vasculature developmentGO:07201210.2ANGPT1, ANGPT2
10nitrogen compound metabolic processGO:00680710.1PKD1, PRKCSH, SEC63
11spinal cord developmentGO:02151010.1PKD1, PKD2
12neural tube developmentGO:02191510.0PKD2, PKD1
13embryonic placenta developmentGO:00189210.0PKD2, PKD1
14negative regulation of endothelial cell apoptotic processGO:200035210.0ANGPT1, TEK
15liver developmentGO:0018899.9SEC63, PRKCSH, PKD1, PKD2
16sprouting angiogenesisGO:0020409.9ANGPT1, TEK
17JAK-STAT cascadeGO:0072599.9PKD1, PKD2
18calcium ion transmembrane transportGO:0705889.9TRPV1, PKD2, PKD1
19Tie signaling pathwayGO:0480149.9ANGPT2, ANGPT1, TEK
20positive regulation of endothelial cell migrationGO:0105959.8ANGPT1, TEK
21posttranslational protein targeting to membraneGO:0066209.7SEC63, SEC61A1
22leukocyte migrationGO:0509009.7TEK, ANGPT1, ANGPT2
23heart developmentGO:0075079.5PCNA, PKD2, PKD1, TEK
24in utero embryonic developmentGO:0017019.3PKD1, ANGPT1, PRKCSH

Molecular functions related to Polycystic Liver Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.7PRKCSH, PKD1, PKD2
2phosphoprotein bindingGO:0512199.6TRPV1, PKD2, PRKCSH
3receptor activityGO:0048729.6PKHD1, SEC63, TEK
4receptor tyrosine kinase bindingGO:0309719.4PCNA, ANGPT2, ANGPT1
5protein bindingGO:0055156.7TEK, LRP5, SEC63, SEC61A1, EPCAM, ANGPT2

Products for genes affiliated with Polycystic Liver Disease

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  • Antibodies
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Sources for Polycystic Liver Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet