PCLD
MCID: PLY023
MIFTS: 61

Polycystic Liver Disease (PCLD) malady

Genetic diseases, Rare diseases, Liver diseases categories
Download this MalaCard

Summaries for Polycystic Liver Disease

About this section


Fully expand this MalaCard
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 based summary: Polycystic Liver Disease, also known as isolated polycystic liver disease, is related to polycystic kidney disease and intracranial aneurysm, and has symptoms including polycystic liver disease/hepatic cysts, hepatomegaly/liver enlargement (excluding storage disease) and autosomal dominant inheritance. 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 lung, and related mouse phenotypes are digestive/alimentary and embryogenesis.

Wikipedia:65 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

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Polycystic Liver Disease, Aliases & Descriptions:

Name: Polycystic Liver Disease 8 9 42 20 46 10 44 62
Isolated Polycystic Liver Disease 42 48 62
Isolated Autosomal Dominant Polycystic Liver Disease 42 62
 
Pcld 42 48
Autosomal Dominant Polycystic Liver Disease 48
Adpcld 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 48 
Rare hepatic 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


External Ids:

Disease Ontology8 DOID:0050770
OMIM46 174050
MESH via Orphanet35 C536330
ICD10 via Orphanet26 Q44.6
UMLS via Orphanet63 C0158683

Related Diseases for Polycystic Liver Disease

About this section

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease31.0PRKCSH, PKD2, PKHD1, PKD1
2intracranial aneurysm30.7PKD1, PKD2
3adenocarcinoma29.3TRPV1, ANGPT1, ANGPT2, TEK, EPCAM, PCNA
4liver disease11.2
5hepatitis10.7
6kidney disease10.5
7polycystic kidney disease, type 210.4PKD2, PKD1
8polycystic kidney disease, autosomal dominant10.4PKD1, PKD2
9nephronophthisis10.4PKD1, PKD2
10congenital hepatic fibrosis10.4PKHD1
11obstructive jaundice10.4
12caroli disease10.3PKD1, PKHD1
13cystic kidney10.3PKD1, PKD1P6, PKD2
14hypertension10.3
15portal hypertension10.3
16aneurysm10.3
17tuberous sclerosis10.2PKHD1, PKD1, PKD1P6
18cerebritis10.2
19cerebral aneurysms10.2
20primary hyperoxaluria10.2PKD1, PKHD1, PKD2
21polycystic kidney disease, autosomal recessive10.2PKD2, PRKCSH, PKHD1, PKD1
22pyogenic granuloma10.1TEK, ANGPT2, ANGPT1
23angiosarcoma10.1ANGPT2, ANGPT1, TEK
24hemangioma10.1TEK, ANGPT1, ANGPT2
25thyroid hurthle cell carcinoma10.1TEK, ANGPT1, ANGPT2
26gastric ulcer10.1ANGPT1, TRPV1
27acute myocardial infarction10.1ANGPT2, TEK, ANGPT1
28endometriosis10.1TEK, ANGPT1, ANGPT2
29hepatocellular carcinoma10.1
30sclerosing cholangitis10.1
31cystic echinococcosis10.1
32carotid artery dissection10.1
33alveolar echinococcosis10.1
34cholangitis10.1
35congenital disorder of glycosylation10.1
36leiomyosarcoma10.1
37lipoma10.1
38meningitis10.1
39neuroendocrine tumor10.1
40oral-facial-digital syndrome type i10.1
41campomelia cumming type10.1
42lymphangiomatosis10.1
43polycystic kidney and hepatic disease10.1
44somatostatin analog10.1
45meckel syndrome 110.1
46galactosemia10.0EPCAM, PKD1, PKHD1
47vascular disease10.0TEK, ANGPT2, ANGPT1
48pre-eclampsia10.0ANGPT2, ANGPT1, TEK
49brain cancer10.0ANGPT1, ANGPT2, TEK
50non-small cell lung carcinoma9.9ANGPT1, PCNA, TEK

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



Diseases related to polycystic liver disease

Symptoms for Polycystic Liver Disease

About this section

Symptoms by clinical synopsis from OMIM:

174050

Clinical features from OMIM:

174050

Symptoms:

48 (show all 14)
  • polycystic liver disease/hepatic cysts
  • 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
  • structural anomalies of the respiratory system and diaphragm
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • arterial aneurism (excluding aorta)
  • early death/lethality

HPO human phenotypes related to Polycystic Liver Disease:

(show all 19)
id Description Frequency HPO Source Accession
1 hepatomegaly hallmark (90%) HP:0002240
2 cystic liver disease hallmark (90%) HP:0006706
3 polycystic kidney dysplasia typical (50%) HP:0000113
4 abnormality of the pancreas occasional (7.5%) HP:0001732
5 abdominal pain occasional (7.5%) HP:0002027
6 respiratory insufficiency occasional (7.5%) HP:0002093
7 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
8 aneurysm occasional (7.5%) HP:0002617
9 feeding difficulties in infancy occasional (7.5%) HP:0008872
10 autosomal dominant inheritance HP:0000006
11 renal cyst HP:0000107
12 abnormality of the nervous system HP:0000707
13 ascites HP:0001541
14 abnormality of the cardiovascular system HP:0001626
15 elevated alkaline phosphatase HP:0003155
16 abdominal distention HP:0003270
17 back pain HP:0003418
18 increased total bilirubin HP:0003573
19 polycystic liver disease HP:0006557

Drugs & Therapeutics for Polycystic Liver Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Polycystic Liver Disease

Search NIH Clinical Center for Polycystic Liver Disease

Genetic Tests for Polycystic Liver Disease

About this section

Genetic tests related to Polycystic Liver Disease:

id Genetic test Affiliating Genes
1 Polycystic Liver Disease20 SEC63

Anatomical Context for Polycystic Liver Disease

About this section

MalaCards organs/tissues related to Polycystic Liver Disease:

32
Liver, Kidney, Lung, Pancreas, Breast

Animal Models for Polycystic Liver Disease or affiliated genes

About this section

Publications for Polycystic Liver Disease

About this section

Articles related to Polycystic Liver Disease:

(show top 50)    (show all 215)
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
Carbohydrate antigen 19-9 is extremely elevated in polycystic liver disease. (19515221)
2009
10
Fulminant liver failure in a patient affected by polycystic liver disease and liver metastases from breast carcinoma. (19856678)
2009
11
Factors that influence outcome in non-invasive and invasive treatment in polycystic liver disease patients. (18506925)
2008
12
Whipple's procedure in a renal transplant recipient with polycystic liver disease. (18648145)
2008
13
Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. (17383431)
2007
14
Surgical management of polycystic liver disease. (17876869)
2007
15
Quality of life and liver transplantation in patients with polycystic liver disease. (16868956)
2006
16
Multiple cysts in the liver autosomal dominant polycystic liver disease. (16788219)
2006
17
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (16835903)
2006
18
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
19
Polycystic liver disease: experience at a teaching hospital. (16181371)
2005
20
Highly symptomatic adult polycystic liver disease: options and results of surgical management. (15315565)
2004
21
Mutations in SEC63 cause autosomal dominant polycystic liver disease. (15133510)
2004
22
Adult polycystic liver disease presenting as portal hypertension. (15717586)
2004
23
Is fenestration a safe treatment for adult polycystic liver disease?: A report of refractory complications. (15239269)
2004
24
Laparoscopic left lateral sectorectomy for polycystic liver disease. (12962449)
2003
25
Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. (12480558)
2003
26
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (12529853)
2003
27
From gene to disease; hepatocystin and autosomal dominant polycystic liver disease]. (12894465)
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

About this section

Clinvar genetic disease variations for Polycystic Liver Disease:

6
id Gene Name Type Significance SNP ID Assembly Location
1PRKCSHPRKCSH, IVS16, A-G, -2single nucleotide variantPathogenic
2PRKCSHPRKCSH, IVS4, G-C, +1single nucleotide variantPathogenic
3PRKCSHPRKCSH, 2-BP DEL, IVS16GT, +1deletionPathogenic
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

About this section
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

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Angiogenesis37
9.8TEK, ANGPT1
29.8ANGPT1, TEK
39.6PKD1, PKD2, TRPV1
4
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
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

About this section

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

idCompoundScoreTop Affiliating Genes
1trp-p-24410.1PKD2, PKD1
2tween449.8TEK, ANGPT1
3matrigel449.5ANGPT2, ANGPT1, TEK
4paraffin448.9PCNA, ANGPT2, ANGPT1, EPCAM, TEK
5cyclosporin a44 28 6110.8ANGPT1, ANGPT2, PCNA, TRPV1
6thymidine44 249.7PCNA, ANGPT2, ANGPT1, EPCAM, TEK
7calcium44 50 24 1111.0LRP5, ANGPT1, ANGPT2, PKD1, PKHD1, PKD2

GO Terms for genes affiliated with Polycystic Liver Disease

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Polycystic Liver Disease

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet