PCLD
MCID: PLY023
MIFTS: 53

Polycystic Liver Disease (PCLD) malady

Liver category

Summaries for Polycystic Liver Disease

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia, autosomal dominant inheritance 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 ovary, liver and kidney, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Wikipedia:64 Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout... more...

Description from OMIM:47 174050

Aliases & Classifications for Polycystic Liver Disease

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 47 10 45 61
isolated polycystic liver disease 43 49
pcld 43 49
isolated autosomal dominant polycystic liver disease 43
autosomal dominant polycystic liver disease 49
adpcld 49


External Ids:

Disease Ontology8 DOID:0050770
OMIM47 174050
MESH via Orphanet36 C536330
ICD10 via Orphanet26 Q44.6
SNOMED-CT via Orphanet58 72925005
UMLS via Orphanet62 C0158683

Related Diseases for Polycystic Liver Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease30.8PKD1, PKHD1
2polycystic kidney disease, autosomal dominant30.5PKD1, PKD2
3polycystic kidney disease, autosomal recessive30.1PRKCSH, PKHD1, PKD2, PKD1
4autosomal dominant disease10.7
5obstructive jaundice10.4
6somatostatin analog10.4
7aneurysm disease10.3
8portal hypertension10.2
9lip disease10.2
10intracranial aneurysm10.1
11carotid artery dissection10.1
12whipple disease10.1
13liver leiomyosarcoma10.1
14sclerosing cholangitis10.1
15liver lipoma10.1
16adenocarcinoma10.1
17autosomal recessive disease10.1
18oral-facial-digital syndrome type i10.1
19campomelia cumming type10.1
20lymphangiomatosis10.1
21polycystic kidney and hepatic disease10.1
22meckel syndrome 110.1
23polycystic kidney disease, type 210.0PKD1, PKD2
24nephronophthisis10.0PKD1, PKD2
25gastric ulcer10.0ANGPT1
26congenital hepatic fibrosis10.0PKHD1
27goiter10.0TEK
28galactosemia10.0PCNA
29primary hyperoxaluria10.0PCNA
30gastrointestinal stromal tumor10.0PCNA
31cystic kidney10.0PKHD1, PKD2, PKD1
32leiomyoma10.0PCNA
33pyogenic granuloma10.0TEK, ANGPT2, ANGPT1
34tuberous sclerosis10.0PKHD1, PKD1, PKD1P6
35ischemia10.0ANGPT1, ANGPT2, TEK
36angiosarcoma10.0ANGPT1, ANGPT2, TEK
37retinal disease10.0TEK, ANGPT2, ANGPT1
38vascular disease10.0ANGPT1, ANGPT2, PCNA
39non-small cell lung carcinoma10.0ANGPT1, PCNA, TEK
40kidney cancer10.0ANGPT1, ANGPT2, PCNA, EPCAM, TEK
41hepatocellular carcinoma10.0ANGPT1, ANGPT2, PCNA, EPCAM, TEK
42stomach cancer10.0TEK, EPCAM, PCNA, ANGPT2, ANGPT1
43squamous cell carcinoma10.0ANGPT1, ANGPT2, PCNA, EPCAM, TEK
44astrocytoma10.0ANGPT1, ANGPT2, PCNA, PLD1, TEK
45prostate cancer10.0TEK, EPCAM, PCNA, ANGPT2, ANGPT1, PKD1
46breast cancer10.0PKD1, ANGPT1, ANGPT2, PCNA, EPCAM, PLD1

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



Diseases related to polycystic liver disease

Clinical Features for Polycystic Liver Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

174050

Clinical synopsis from OMIM:

174050

Symptoms:

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

Drugs & Therapeutics for Polycystic Liver Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests
See all sources

Genetic tests related to Polycystic Liver Disease:

id Genetic test Affiliating Genes
1 Polycystic Liver Disease20 SEC63

Anatomical Context for Polycystic Liver Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Polycystic Liver Disease:

33
Ovary, Liver, Kidney, Lymph node, Spleen, Breast

Animal Models for Polycystic Liver Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Polycystic Liver Disease

Sources:
51PubMed
See all sources

Articles related to Polycystic Liver Disease:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Inhibition of metalloprotease hyperactivity in cystic cholangiocytes halts the development of polycystic liver diseases. (24436140)
2014
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
Somatostatin analog therapy for severe polycystic liver disease: results after 2 years. (22773240)
2012
4
Liver transplantation for massive hepatomegaly due to polycystic liver disease: an extreme case. (22974902)
2012
5
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. (22415584)
2012
6
ERCP for the treatment of bile leak after partial hepatectomy and fenestration for symptomatic polycystic liver disease. (22851862)
2012
7
Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease. (22475206)
2012
8
Systematic review: the pathophysiology and management of polycystic liver disease. (21790682)
2011
9
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. (20138683)
2010
10
Clinical outcomes of liver transplantation for polycystic liver disease: a single center experience. (20720268)
2010
11
Polycystic liver diseases. (20138815)
2010
12
Polycystic liver disease and liver transplantation: single-institution experience. (19917384)
2009
13
Carbohydrate antigen 19-9 is extremely elevated in polycystic liver disease. (19515221)
2009
14
An association between non-alcoholic fatty liver disease and polycystic ovarian syndrome. (19215335)
2009
15
Hepatocellular apoptosis in polycystic liver disease. (18662269)
2008
16
Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. (17383431)
2007
17
Surgical management of polycystic liver disease. (17876869)
2007
18
Treatment of polycystic liver disease: one size does not fit all. (17533013)
2007
19
Inferior vena cava stenting: a safe and effective treatment for intractable ascites in patients with polycystic liver disease. (17508255)
2007
20
Results of percutaneous sclerotherapy and surgical treatment in patients with symptomatic simple liver cysts and polycystic liver disease. (17589926)
2007
21
Effects of angiogenic factor overexpression by human and rodent cholangiocytes in polycystic liver diseases. (16628643)
2006
22
Secretion of cytokines and growth factors into autosomal dominant polycystic kidney disease liver cyst fluid. (15382115)
2004
23
Is fenestration a safe treatment for adult polycystic liver disease?: A report of refractory complications. (15239269)
2004
24
Laparoscopic right hemihepatectomy for a case of polycystic liver disease with right predominance. (15127274)
2004
25
Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. (12480558)
2003
26
Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. (10405208)
1999
27
Liver transplantation for adult polycystic liver disease. (9696005)
1998
28
Liver transplantation in patients with polycystic liver disease. (9365580)
1997
29
Association between pancreatic cystadenocarcinoma, malignant liver cysts, and polycystic disease of the kidney. (9178704)
1997
30
Successful transjugular intrahepatic portosystemic shunt creation in a patient with polycystic liver disease. (9393161)
1997
31
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. (8591848)
1996
32
Hepatic venous outflow obstruction in patients with polycystic liver disease: pathogenesis and treatment. (7890219)
1995
33
Fenestration in the management of polycystic liver disease. (7740806)
1995
34
Alcohol sclerosis for polycystic liver disease and obstructive jaundice: use of a nasobiliary catheter. (8079938)
1994
35
Ascites and myxedema in a patient with polycystic disease of the kidney and liver. (7977249)
1994
36
Polycystic liver disease with obstructive jaundice: treatment with ultrasound-guided cyst aspiration. (1544558)
1992
37
Clinical experience with adult polycystic liver disease. (1611453)
1992
38
Liver transplantation for polycystic liver disease. (2331212)
1990
39
Polycystic liver disease in golden hamsters. (3680651)
1987
40
Adult polycystic liver disease and biliary microhamartomas (von Meyenburg's complexes). (3811921)
1986
41
Adult polycystic liver disease in childhood. A case report. (3771191)
1986
42
Hepatic abscess in a patient with polycystic liver disease. A case report. (3992385)
1985
43
Partial resection and fenestration in the treatment of polycystic liver disease. (6697135)
1984
44
Surgical resection in symptomatic polycystic liver disease. (6572276)
1983
45
The gallbladder in polycystic liver disease. (7054544)
1982
46
Autosomal dominant polycystic liver disease: a second family. (7116679)
1982
47
Case of the month No. 39: Polycystic liver disease. (526159)
1979
48
Radiological seminar CLXII: Liver scanning in polycystic liver disease. (966279)
1976
49
Polycystic liver disease in two sisters. (4506625)
1972
50
Polycystic liver disease. Report of a case employing needle biopsy and liver scanning. (5933928)
1966

Genetic Variations for Polycystic Liver Disease

Expression for genes affiliated with Polycystic Liver Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN, 12EMD Millipore
See all sources

Compounds for genes affiliated with Polycystic Liver Disease

Sources:
45Novoseek, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Polycystic Liver Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trp-p-24510.2PKD1, PKD2
2tween4510.1TEK, ANGPT1
3u 73343609.7PCLD, PRKCSH, PLD1
4m-3m3fbs609.7PLD1, PCLD, PRKCSH
5fipi609.7PRKCSH, PCLD, PLD1
6d609609.6PRKCSH, PCLD, PLD1
7edelfosine45 6010.4PLD1, PCLD, PRKCSH
8phosphatidylinositol458.9TEK, PLD1, ANGPT2, ANGPT1, PKD1
9paraffin458.5ANGPT1, ANGPT2, PCNA, EPCAM, TEK
10thymidine45 249.2ANGPT1, ANGPT2, PCNA, EPCAM, TEK

GO Terms for genes affiliated with Polycystic Liver Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Polycystic Liver Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet