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
Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. (24324698)
2013
2
The zebrafish as a model to study polycystic liver disease. (23668934)
2013
3
Peri-operative challenges and long-term outcomes in liver transplantation for polycystic liver disease. (23458516)
2013
4
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. (23582048)
2013
5
Adult polycystic liver disease in alpacas. (23792997)
2013
6
Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study. (22076432)
2012
7
Resection and Fenestration for Symptomatic Polycystic Liver Disease. (21217511)
2011
8
PPAR-gamma agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. (21147840)
2011
9
Resection and Fenestration for Symptomatic Polycystic Liver Disease. (21217510)
2011
10
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. (19308730)
2010
11
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. (20095989)
2010
12
Kidney and liver cysts in autosomal dominant polycystic kidney disease. (20846938)
2010
13
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. (19801576)
2010
14
Polycystic liver disease treated with therapeutic excision. (19752867)
2009
15
Fulminant liver failure in a patient affected by polycystic liver disease and liver metastases from breast carcinoma. (19856678)
2009
16
Factors that influence outcome in non-invasive and invasive treatment in polycystic liver disease patients. (18506925)
2008
17
Treatment of polycystic liver disease with resection-fenestration and a new classification. (18763291)
2008
18
Polycystic liver disease. (21904493)
2008
19
Living donor liver transplantation in polycystic liver disease. (18433036)
2008
20
Liver transplantation in polycystic liver disease: a relevant treatment modality for adults? (18938751)
2008
21
Images in clinical medicine. Liver transplantation for polycystic liver disease. (17429087)
2007
22
Polycystic liver disease: new insights into disease pathogenesis. (16628666)
2006
23
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
24
Laparoscopic fenestration for the treatment of patients with severe adult polycystic liver disease. (15701496)
2005
25
Surgical therapy options in polycystic liver disease. (15875761)
2005
26
Polycystic disease of the liver. (15382167)
2004
27
Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease. (15188177)
2004
28
Impact of liver transplantation on renal function of patients with congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease. (15598323)
2004
29
Clinical profile of autosomal dominant polycystic liver disease. (12500201)
2003
30
Metastatic leiomyosarcoma mimicking polycystic liver disease. (12474160)
2002
31
Successful left trisegmentectomy for polycystic liver disease accompanied by jaundice. (11528144)
2001
32
The effect of fenestration procedure on liver regeneration in a case of polycystic liver disease. (11813611)
2001
33
Liver transplantation for polycystic liver disease. (11244166)
2001
34
Polycystic liver disease: an unusual cause of bleeding varices. (10063928)
1999
35
Transverse hepatectomy for symptomatic polycystic liver disease. (10661687)
1999
36
Screening for cerebral aneurysm in patients with polycystic liver disease. (10624907)
1999
37
Pregnancy complicated by symptomatic adult polycystic liver disease. (9704801)
1998
38
Polycystic liver disease, complicated by Salmonella infection. (8888445)
1996
39
Polycystic liver disease. (8585918)
1995
40
Surgery for adult polycystic liver disease. (7878532)
1995
41
Management of symptomatic polycystic liver disease: laparoscopy adjuvant with alcohol sclerotherapy. (7548819)
1995
42
MRI and CT features of polycystic liver disease. (8506104)
1993
43
Adult polycystic liver disease presenting in a patient with metastatic adenocarcinoma. Cytologic and histologic findings. (1573380)
1992
44
Adult polycystic liver disease. (1935729)
1991
45
MR imaging of multiple hepatic cysts in a patient with polycystic liver disease. (3320657)
1987
46
Polycystic liver disease: a study of cyst fluid constituents. (7095747)
1982
47
The gallbladder in polycystic liver disease. (7253163)
1981
48
Jaundice associated with polycystic liver disease. (707711)
1978
49
Polycystic liver disease: case report. (269734)
1977
50
Jaundice associated with polycystic liver disease. Relief by surgical decompression of the cysts. (938229)
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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  • Antibodies
  • 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