PCLD
MCID: PLY023
MIFTS: 59

Polycystic Liver Disease (PCLD) malady

Liver diseases category

Summaries for Polycystic Liver Disease

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Sources:
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 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 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
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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
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Clinical features from OMIM:

174050

Clinical synopsis from OMIM:

174050

Symptoms:

48 (show all 14)
  • structural anomalies of the respiratory system and diaphragm
  • arterial aneurism (excluding aorta)
  • polycystic liver disease/hepatic cysts
  • polycystic kidneys
  • 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
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia

Drugs & Therapeutics for Polycystic Liver Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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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32MalaCards
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MalaCards organs/tissues related to Polycystic Liver Disease:

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

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
Detection of infected liver cysts by 111In WBC SPECT/CT in polycystic liver disease. (23603582)
2014
2
Evaluating health-related quality of life in patients with polycystic liver disease and determining the impact of symptoms and liver volume. (24313956)
2013
3
The MELD score exception for polycystic liver disease. (23790796)
2013
4
Polycystic liver disease with complications: fenestration by laparoscopic approach. (23294960)
2012
5
Incidental finding of autosomal dominant polycystic kidney disease with liver involvement on Tc-99m sestamibi scintigraphy. (21637047)
2011
6
An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease. (21251912)
2011
7
PPAR-gamma agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. (21147840)
2011
8
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. (19308730)
2010
9
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. (20095989)
2010
10
Kidney and liver cysts in autosomal dominant polycystic kidney disease. (20846938)
2010
11
Isolated polycystic liver disease. (20219621)
2010
12
Polycystic liver disease treated with therapeutic excision. (19752867)
2009
13
Polycystic liver disease and liver transplantation: single-institution experience. (19917384)
2009
14
Carbohydrate antigen 19-9 is extremely elevated in polycystic liver disease. (19515221)
2009
15
Myxoid liposarcoma involving the liver, subcutaneous tissue, and epidural space in a polycystic disease patient. (18580245)
2008
16
Polycystic liver disease. (21904493)
2008
17
Disrupted cell adhesion but not proliferation mediates cyst formation in polycystic liver disease. (18587325)
2008
18
Liver transplantation in polycystic liver disease: a relevant treatment modality for adults? (18938751)
2008
19
Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5%. (17957434)
2008
20
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
21
Polycystic liver disease is a disorder of cotranslational protein processing. (15649821)
2005
22
Liver disease in autosomal recessive polycystic kidney disease. (16176423)
2005
23
Adult polycystic liver disease presenting as portal hypertension. (15717586)
2004
24
Polycystic disease of the liver. (15382167)
2004
25
Is fenestration a safe treatment for adult polycystic liver disease?: A report of refractory complications. (15239269)
2004
26
Intestinal perforation after combined liver-kidney transplantation for a case of congenital polycystic disease. (15309740)
2004
27
Living-donor liver transplantation for polycystic liver disease. (14966436)
2004
28
Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. (12480558)
2003
29
From gene to disease; hepatocystin and autosomal dominant polycystic liver disease]. (12894465)
2003
30
Liver transplantation for polycystic liver disease--indications and outcome. (12644149)
2003
31
Living related liver transplantation for polycystic liver disease. (12461664)
2002
32
Metastatic leiomyosarcoma mimicking polycystic liver disease. (12474160)
2002
33
Successful left trisegmentectomy for polycystic liver disease accompanied by jaundice. (11528144)
2001
34
Liver transplantation for polycystic liver disease. (11244166)
2001
35
Polycystic liver disease: an unusual cause of bleeding varices. (10063928)
1999
36
Transverse hepatectomy for symptomatic polycystic liver disease. (10661687)
1999
37
Screening for cerebral aneurysm in patients with polycystic liver disease. (10624907)
1999
38
Screening for intracranial aneurysms in patients with isolated polycystic liver disease. (9817407)
1998
39
Spiny keratoderma in association with autosomal dominant polycystic kidney disease with liver cysts. (8621833)
1996
40
Polycystic liver disease. (8585918)
1995
41
Liver resection and cyst fenestration in the treatment of severe polycystic liver disease. (7835591)
1995
42
Liver abscess in polycystic liver disease. (7673808)
1995
43
Surgery for adult polycystic liver disease. (7878532)
1995
44
Alcohol sclerosis for polycystic liver disease and obstructive jaundice: use of a nasobiliary catheter. (8079938)
1994
45
Symptomatic polycystic liver disease: a case report and review of the literature. (7859276)
1994
46
Adult polycystic liver disease presenting in a patient with metastatic adenocarcinoma. Cytologic and histologic findings. (1573380)
1992
47
Successful surgical treatment of polycystic liver disease. (2749160)
1989
48
Polycystic liver disease: quantitation of parenchymal and cyst volumes from computed tomography images and clinical correlates of hepatic cysts. (3192176)
1988
49
Polycystic liver disease: a study of cyst fluid constituents. (7095747)
1982
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