MCID: PLY023
MIFTS: 54

Polycystic Liver Disease malady

Genetic diseases, Rare diseases, Liver diseases categories

Aliases & Classifications for Polycystic Liver Disease

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Polycystic Liver Disease, Aliases & Descriptions:

Name: Polycystic Liver Disease 45 9 10 41 20 11 43 60
Autosomal Dominant Polycystic Liver Disease 41 47
Isolated Polycystic Liver Disease 41 47
 
Adpcld 41 47
Pcld 41 47
Isolated Autosomal Dominant Polycystic Liver Disease 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 47 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

47
autosomal dominant polycystic liver disease:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

OMIM45 174050
Disease Ontology9 DOID:0050770
Orphanet47 2924
MESH via Orphanet34 C536330
ICD10 via Orphanet26 Q44.6
UMLS via Orphanet61 C0158683

Summaries for Polycystic Liver Disease

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NIH Rare Diseases:41 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 autosomal dominant polycystic liver disease, is related to liver disease and kidney disease, and has symptoms including hepatomegaly, cystic liver disease and polycystic kidney dysplasia. 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 pancreas, and related mouse phenotypes are digestive/alimentary and embryogenesis.

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

Description from OMIM:45 174050

Related Diseases for Polycystic Liver Disease

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1liver disease32.4PCNA
2kidney disease31.4PCNA
3polycystic kidney disease31.1PRKCSH, PKD1, PKHD1, PKD2
4polycystic kidney disease 230.8PKD1, PKD2
5intracranial aneurysm30.7PKD2, PKD1
6polycystic kidney and hepatic disease30.3PRKCSH, PKD1, PKHD1, PKD2
7hepatocellular carcinoma29.6TEK, EPCAM, ANGPT1, ANGPT2, PCNA
8adenocarcinoma29.3TEK, EPCAM, ANGPT1, ANGPT2, PCNA, TRPV1
9hepatitis10.7
10polycystic kidney disease, autosomal dominant10.4PKD1, PKD2
11nephronophthisis10.4PKD2, PKD1
12obstructive jaundice10.4
13congenital hepatic fibrosis10.4PKHD1
14aneurysm10.4
15caroli disease10.3PKD1, PKHD1
16cystic kidney10.3PKD1, PKD2, PKD1P6
17portal hypertension10.3
18cerebritis10.2
19cerebral aneurysms10.2
20tuberous sclerosis10.2PKD1, PKHD1, PKD1P6
21primary hyperoxaluria10.2PKD1, PKHD1, PKD2
22pyogenic granuloma10.1TEK, ANGPT1, ANGPT2
23angiosarcoma10.1ANGPT2, ANGPT1, TEK
24hemangioma10.1ANGPT2, ANGPT1, TEK
25thyroid cancer10.1TEK, ANGPT1, ANGPT2
26budd-chiari syndrome10.1
27short-rib thoracic dysplasia 1 with or without polydactyly10.1
28lipoma10.1
29meckel syndrome 110.1
30cystic echinococcosis10.1
31carotid artery dissection10.1
32alveolar echinococcosis10.1
33sclerosing cholangitis10.1
34axial osteomalacia10.1
35cholangitis10.1
36leiomyosarcoma10.1
37meningitis10.1
38campomelia cumming type10.1
39lymphangiomatosis10.1
40acute myocardial infarction10.1TEK, ANGPT1, ANGPT2
41endometriosis10.1ANGPT2, ANGPT1, TEK
42gastric ulcer10.1TRPV1, ANGPT1
43galactosemia10.0PKHD1, PKD1, EPCAM
44vascular disease10.0TEK, ANGPT1, ANGPT2
45preeclampsia/eclampsia 110.0TEK, ANGPT1, ANGPT2
46brain cancer9.9TEK, ANGPT1, ANGPT2
47lung cancer9.9TEK, ANGPT1, PCNA
48malignant glioma9.9PCNA, ANGPT2, ANGPT1
49ischemia9.8TRPV1, ANGPT2, ANGPT1, TEK
50endometrial cancer9.8TEK, ANGPT1, ANGPT2, PCNA

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



Diseases related to polycystic liver disease

Symptoms for Polycystic Liver Disease

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Symptoms by clinical synopsis from OMIM:

174050

Clinical features from OMIM:

174050

Symptoms:

 47 (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

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Drug clinical trials:

Search ClinicalTrials for Polycystic Liver Disease

Search NIH Clinical Center for Polycystic Liver Disease

Genetic Tests for Polycystic Liver Disease

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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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MalaCards organs/tissues related to Polycystic Liver Disease:

31
Liver, Kidney, Pancreas, Lung, Breast

Animal Models for Polycystic Liver Disease or affiliated genes

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Publications for Polycystic Liver Disease

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Articles related to Polycystic Liver Disease:

(show top 50)    (show all 223)
idTitleAuthorsYear
1
Reply to: "Development and validation of a polycystic liver disease complaint-specific assessment (POLCA) - Use of the Delphi technique for content validation". (25529625)
2015
2
Safety and efficacy of different lanreotide doses in the treatment of polycystic liver disease: pooled analysis of individual patient data. (23799922)
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
Polycystic liver disease and liver transplantation: single-institution experience. (19917384)
2009
10
Carbohydrate antigen 19-9 is extremely elevated in polycystic liver disease. (19515221)
2009
11
Fulminant liver failure in a patient affected by polycystic liver disease and liver metastases from breast carcinoma. (19856678)
2009
12
Factors that influence outcome in non-invasive and invasive treatment in polycystic liver disease patients. (18506925)
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

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Clinvar genetic disease variations for Polycystic Liver Disease:

6
id Gene Variation 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

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Search GEO for disease gene expression data for Polycystic Liver Disease.

Pathways for genes affiliated with Polycystic Liver Disease

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Pathways related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Angiogenesis36
9.8TEK, ANGPT1
29.8ANGPT1, TEK
3
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
9.5ANGPT2, TEK, ANGPT1
49.5TEK, ANGPT2, ANGPT1
5
Show member pathways
9.5ANGPT1, ANGPT2, TEK
69.4SEC61A1, SEC63
78.6GANAB, SEC63, SEC61A1, PRKCSH

Compounds for genes affiliated with Polycystic Liver Disease

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Compounds related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1trp-p-24310.1PKD2, PKD1
2tween439.8TEK, ANGPT1
3matrigel439.5TEK, ANGPT1, ANGPT2
4paraffin438.9TEK, EPCAM, ANGPT1, ANGPT2, PCNA
5cyclosporin a43 28 5910.8TRPV1, ANGPT2, ANGPT1, PCNA
6thymidine43 249.7ANGPT1, ANGPT2, PCNA, TEK, EPCAM
7calcium43 49 24 1211.0ANGPT2, ANGPT1, LRP5, PKD1, PKHD1, PKD2

GO Terms for genes affiliated with Polycystic Liver Disease

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Cellular components related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:000213310.2PKD2, PKD1
2motile primary ciliumGO:003151210.2PKD1, PKD2
3mitotic spindleGO:007268610.0PKD2, PKHD1
4basal plasma membraneGO:00099259.9TEK, PKD2
5basolateral plasma membraneGO:00163239.7PKD1, EPCAM, TEK
6microvillusGO:00059029.7ANGPT1, TEK
7endoplasmic reticulumGO:00057839.6LRP5, SEC63, PRKCSH, PKD2
8apical plasma membraneGO:00163249.2PKHD1, EPCAM, TEK
9plasma membraneGO:00058868.2ANGPT1, TRPV1, PKD2, PKD1, ANGPT2, TEK
10extracellular vesicular exosomeGO:00700628.1PKHD1, PKD2, PCNA, GANAB, PKD1, ANGPT1

Biological processes related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1renal system developmentGO:007200110.3PRKCSH, SEC63
2mesonephric tubule developmentGO:007216410.3PKD2, PKD1
3metanephric ascending thin limb developmentGO:007221810.3PKD2, PKD1
4mesonephric duct developmentGO:007217710.3PKD1, PKD2
5positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:003165910.3PKD1, PKD2
6placenta blood vessel developmentGO:006067410.2PKD1, PKD2
7detection of mechanical stimulusGO:005098210.2PKD1, PKD2
8cytoplasmic sequestering of transcription factorGO:004299410.2PKD1, PKD2
9glomerulus vasculature developmentGO:007201210.2ANGPT2, ANGPT1
10nitrogen compound metabolic processGO:000680710.1PKD1, PRKCSH, SEC63
11spinal cord developmentGO:002151010.1PKD2, PKD1
12neural tube developmentGO:002191510.0PKD1, PKD2
13embryonic placenta developmentGO:000189210.0PKD2, PKD1
14negative regulation of endothelial cell apoptotic processGO:0200035210.0ANGPT1, TEK
15liver developmentGO:00018899.9PKD2, PRKCSH, PKD1, SEC63
16sprouting angiogenesisGO:00020409.9ANGPT1, TEK
17JAK-STAT cascadeGO:00072599.9PKD1, PKD2
18calcium ion transmembrane transportGO:00705889.9PKD1, PKD2, TRPV1
19Tie signaling pathwayGO:00480149.9TEK, ANGPT2, ANGPT1
20positive regulation of endothelial cell migrationGO:00105959.8TEK, ANGPT1
21posttranslational protein targeting to membraneGO:00066209.7SEC61A1, SEC63
22leukocyte migrationGO:00509009.7TEK, ANGPT1, ANGPT2
23heart developmentGO:00075079.5TEK, PKD1, PCNA, PKD2
24in utero embryonic developmentGO:00017019.3PKD1, PRKCSH, ANGPT1

Molecular functions related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.7PKD2, PKD1, PRKCSH
2phosphoprotein bindingGO:00512199.6PRKCSH, PKD2, TRPV1
3receptor activityGO:00048729.6TEK, SEC63, PKHD1
4receptor tyrosine kinase bindingGO:00309719.4PCNA, ANGPT2, ANGPT1
5protein bindingGO:00055156.7TEK, LRP5, SEC63, PCNA, PKD2, PKHD1

Products for genes affiliated with Polycystic Liver Disease

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Sources for Polycystic Liver Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet