PCLD
MCID: PLY023
MIFTS: 59

Polycystic Liver Disease (PCLD) malady

Liver diseases category

Summaries for Polycystic Liver Disease

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 polycystic kidney disease, autosomal dominant, and has symptoms including early death/lethality, arterial aneurism (excluding aorta) and respiratory distress/dyspnea/respiratory failure/lung volume reduction. An important gene associated with Polycystic Liver Disease is PRKCSH (protein kinase C substrate 80K-H), and among its related pathways are Angiogenesis and Calnexin/calreticulin cycle. 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 renal/urinary system and liver/biliary system.

Wikipedia:63 Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout... more...

Description from OMIM:46 174050

Aliases & Classifications for Polycystic Liver Disease

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

48
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 8 9 42 20 46 10 44 60
isolated polycystic liver disease 42 48
pcld 42 48
isolated autosomal dominant polycystic liver disease 42
autosomal dominant polycystic liver disease 48
adpcld 48


External Ids:

Disease Ontology8 DOID:0050770
OMIM46 174050
MESH via Orphanet35 C536330
ICD10 via Orphanet26 Q44.6
SNOMED-CT via Orphanet57 72925005
UMLS via Orphanet61 C0158683

Related Diseases for Polycystic Liver Disease

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Sources:
17GeneCards, 18GeneDecks
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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 60)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease30.7PKHD1, PKD1
2polycystic kidney disease, autosomal dominant30.5PKD1, PKD2
3polycystic kidney disease, autosomal recessive30.0PRKCSH, PKD1, PKD2, PKHD1
4hepatocellular carcinoma30.0TEK, ANGPT1, ANGPT2, PCNA, EPCAM
5liver disease11.2
6autosomal dominant disease10.7
7hepatitis10.7
8hepatitis a10.6
9kidney disease10.5
10obstructive jaundice10.4
11portal hypertension10.3
12aneurysm disease10.3
13hypertension10.3
14cerebritis10.2
15gallbladder disease10.2
16intracranial aneurysm10.1
17carotid artery dissection10.1
18liver leiomyosarcoma10.1
19sclerosing cholangitis10.1
20liver lipoma10.1
21adenocarcinoma10.1
22autosomal recessive disease10.1
23breast disease10.1
24carotid artery disease10.1
25cerebral arterial disease10.1
26cholangitis10.1
27chromosomal disease10.1
28congenital disorder of glycosylation10.1
29hemorrhagic disease10.1
30leiomyosarcoma10.1
31lipoma10.1
32meningitis10.1
33neuroendocrine tumor10.1
34oral-facial-digital syndrome type i10.1
35campomelia cumming type10.1
36polycystic kidney and hepatic disease10.1
37meckel syndrome 110.1
38polycystic kidney disease, type 210.0PKD2, PKD1
39nephronophthisis10.0PKD2, PKD1
40gastric ulcer10.0ANGPT1
41congenital hepatic fibrosis10.0PKHD1
42goiter10.0TEK
43galactosemia10.0PCNA
44primary hyperoxaluria10.0PCNA
45gastrointestinal stromal tumor10.0PCNA
46cystic kidney10.0PKD1, PKD2, PKHD1
47leiomyoma10.0PCNA
48pyogenic granuloma10.0ANGPT1, ANGPT2, TEK
49tuberous sclerosis10.0PKD1P6, PKHD1, PKD1
50ischemia10.0ANGPT1, ANGPT2, TEK

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



Diseases related to polycystic liver disease

Clinical Features for Polycystic Liver Disease

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

174050

Clinical synopsis from OMIM:

174050

Symptoms:

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

Drugs & Therapeutics for Polycystic Liver Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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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20GeneTests
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Genetic tests related to Polycystic Liver Disease:

id Genetic test Affiliating Genes
1 Polycystic Liver Disease20 SEC63

Anatomical Context for Polycystic Liver Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Polycystic Liver Disease:

32
Liver, Kidney, Pancreas, Lung, Ovary, Breast, Spleen, Lymph node

Animal Models for Polycystic Liver Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Polycystic Liver Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8PRKCSH, PKHD1, PKD2, PKD1, ANGPT1, SEC63
2MP:00053708.6PRKCSH, PKHD1, PKD2, PKD1, SEC63, SEC61A1
3MP:00053768.2PKD2, PKD1, EPCAM, PLD1, SEC63, SEC61A1
4MP:00053857.9NXN, PKHD1, PKD2, PKD1, ANGPT1, ANGPT2
5MP:00107687.1PKD1, PKD2, PKHD1, PRKCSH, ANGPT1, ANGPT2
6MP:00053847.0PRKCSH, PKHD1, PKD2, PKD1, PCNA, EPCAM
7MP:00053786.7PKHD1, PKD2, PKD1, ANGPT1, PCNA, EPCAM

Publications for Polycystic Liver Disease

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Sources:
50PubMed
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Articles related to Polycystic Liver Disease:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Multiple liver cyst infection caused by Salmonella ajiobo in autosomal dominant polycystic kidney disease. (23053500)
2013
2
Symptomatic Polycystic Liver Disease Treated With Transcatheter Hepatic Arterial Embolization and Inferior Vena Cava Stenting: A Case Report. (24325362)
2013
3
Fenestration treatment for polycystic liver disease improved quality of life. (23461935)
2013
4
Diagnosis and management of polycystic liver disease. (23296249)
2013
5
New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. (23593929)
2013
6
Treatment of symptomatic polycystic liver disease: transcatheter super-selective hepatic arterial embolization using a mixture of NBCA and iodized oil. (22743841)
2013
7
Treatment of polycystic liver disease: a hypothesis, patient characteristics, short and long-term results. (24018496)
2013
8
Young women with polycystic liver disease respond best to somatostatin analogues: a pooled analysis of individual patient data. (23665274)
2013
9
Glucagon-like peptide-1 analogue, liraglutide, improves liver fibrosis markers in obese women with polycystic ovary syndrome and nonalcoholic fatty liver disease. (24256515)
2013
10
Low prevalence of cardiac valve abnormalities in patients with autosomal dominant polycystic liver disease. (22099398)
2012
11
Somatostatin analog therapy for severe polycystic liver disease: results after 2 years. (22773240)
2012
12
Meningeal tumor: A rare extrahepatic association in patients with polycystic liver disease enrolled for liver transplantation. (22783381)
2012
13
Therapeutic challenge of ERCP for biliary decompression in a patient with autosomal dominant polycystic kidney disease and polycystic liver disease and pancreaticoduodenectomy anatomy. (22281112)
2012
14
Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation. (21173690)
2011
15
Image of the month. Polycystic liver disease leading to liver failure and transplantation. (19465155)
2010
16
Polycystic liver disease in senile chamois (Rupicaprae rupicaprae). (20688671)
2010
17
Extended liver resection for polycystic liver disease can challenge liver transplantation. (21037428)
2010
18
Polycystic liver disease. (19642842)
2009
19
Treatment of polycystic liver disease. (19918853)
2009
20
Percutaneous aspiration and ethanolamine oleate sclerotherapy for sustained resolution of symptomatic polycystic liver disease: an initial experience. (19933645)
2009
21
Polycystic liver disease. (19492904)
2009
22
Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation. (19561475)
2009
23
Whipple's procedure in a renal transplant recipient with polycystic liver disease. (18648145)
2008
24
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. (18224332)
2008
25
Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. (17383431)
2007
26
Isolated polycystic liver disease--a rare entity: report of a case. (17883078)
2007
27
Polycystic liver disease: multimodality imaging for complications and transplant evaluation. (17102042)
2006
28
Polycystic liver disease: experience at a teaching hospital. (16181371)
2005
29
Management of polycystic liver disease. (15701294)
2005
30
Secretion of cytokines and growth factors into autosomal dominant polycystic kidney disease liver cyst fluid. (15382115)
2004
31
Laparoscopic left lateral sectorectomy for polycystic liver disease. (12962449)
2003
32
Laparoscopic treatment of simple hepatic cysts and polycystic liver disease. (12574922)
2003
33
Serial needle aspiration in polycystic liver disease. (14627605)
2003
34
Treatment of symptomatic polycystic liver disease with resection-fenestration. (12385552)
2002
35
Surgical strategy in liver transplantation for polycystic liver disease. (11267329)
2001
36
Symptomatic adult polycystic liver disease. (10989908)
2000
37
Transjugular intrahepatic portosystemic shunt for the treatment of intractable ascites in a patient with polycystic liver disease. (10821902)
2000
38
Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2. (10063927)
1999
39
A liver with polycystic liver disease as graft for orthotopic liver transplantation. (9642525)
1998
40
Adult polycystic liver disease with cutaneous involvement: a brief report. (9845728)
1998
41
Laparoscopic Lin operation for the treatment of polycystic liver disease. (9840161)
1998
42
Adult polycystic liver disease: is fenestration the most adequate operation for long-term management? (9060585)
1997
43
Obstructive jaundice associated with polycystic liver disease. (9184868)
1996
44
Laparoscopic fenestration in polycystic liver disease. (9038542)
1996
45
Autosomal dominant polycystic liver disease as an etiology for hemoperitoneum during CCPD. (8785237)
1995
46
Adult polycystic liver disease and biliary microhamartomas (von Meyenburg's complexes). (3811921)
1986
47
MR imaging of a hemorrhagic hepatic cyst in a patient with polycystic liver disease. (3881489)
1985
48
Partial resection and fenestration in the treatment of polycystic liver disease. (6697135)
1984
49
Low high-density lipoprotein and reduced antipyrine metabolism in members of a family with polycystic liver disease. (7209396)
1980
50
Radiological seminar CLXII: Liver scanning in polycystic liver disease. (966279)
1976

Genetic Variations for Polycystic Liver Disease

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Expression for genes affiliated with Polycystic Liver Disease

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Sources:
1BioGPS, 15Gene 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:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore
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Compounds for genes affiliated with Polycystic Liver Disease

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Sources:
44Novoseek, 59Tocris Bioscience, 24HMDB
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Compounds related to Polycystic Liver Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trp-p-24410.2PKD1, PKD2
2tween4410.1TEK, ANGPT1
3u 73343599.7PCLD, PRKCSH, PLD1
4m-3m3fbs599.7PLD1, PCLD, PRKCSH
5fipi599.7PRKCSH, PCLD, PLD1
6d609599.6PRKCSH, PCLD, PLD1
7edelfosine44 5910.4PLD1, PCLD, PRKCSH
8phosphatidylinositol448.9TEK, PLD1, ANGPT2, ANGPT1, PKD1
9paraffin448.5ANGPT1, ANGPT2, PCNA, EPCAM, TEK
10thymidine44 249.2ANGPT1, ANGPT2, PCNA, EPCAM, TEK

GO Terms for genes affiliated with Polycystic Liver Disease

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16Gene Ontology
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Cellular components related to Polycystic Liver Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:00213310.0PKD1, PKD2
2motile primary ciliumGO:0315129.9PKD1, PKD2
3basolateral plasma membraneGO:0163239.7TEK, EPCAM, PKD1
4mitotic spindleGO:0726869.6PKD2, PKHD1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1metanephric ascending thin limb developmentGO:07221810.3PKD2, PKD1
2mesonephric tubule developmentGO:07216410.3PKD2, PKD1
3renal system developmentGO:07200110.3SEC63, PRKCSH
4mesonephric duct developmentGO:07217710.3PKD1, PKD2
5positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.3PKD2, PKD1
6placenta blood vessel developmentGO:06067410.2PKD1, PKD2
7glomerulus vasculature developmentGO:07201210.2ANGPT2, ANGPT1
8detection of mechanical stimulusGO:05098210.2PKD2, PKD1
9cytoplasmic sequestering of transcription factorGO:04299410.2PKD1, PKD2
10nitrogen compound metabolic processGO:00680710.1PRKCSH, PKD1, SEC63
11spinal cord developmentGO:02151010.1PKD1, PKD2
12negative regulation of endothelial cell apoptotic processGO:200035210.0TEK, ANGPT1
13embryonic placenta developmentGO:00189210.0PKD1, PKD2
14Tie signaling pathwayGO:04801410.0TEK, ANGPT2, ANGPT1
15calcium ion transmembrane transportGO:0705889.9PKD2, PKD1
16liver developmentGO:0018899.9SEC63, PKD1, PKD2, PRKCSH
17sprouting angiogenesisGO:0020409.9TEK, ANGPT1
18leukocyte migrationGO:0509009.8ANGPT1, ANGPT2, TEK
19neural tube developmentGO:0219159.7PKD2, PKD1
20posttranslational protein targeting to membraneGO:0066209.5SEC61A1, SEC63, SEC62
21heart developmentGO:0075079.2PKD2, PKD1, PCNA, TEK

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

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:0048729.2SEC63, SEC62, TEK, PKHD1
2receptor tyrosine kinase bindingGO:0309718.8PCNA, ANGPT2, ANGPT1

Products for genes affiliated with Polycystic Liver Disease

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  • Proteins
  • Lysates
  • Antibodies

Sources for Polycystic Liver Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet