PCLD
MCID: PLY023
MIFTS: 62

Polycystic Liver Disease (PCLD)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Polycystic Liver Disease

MalaCards integrated aliases for Polycystic Liver Disease:

Name: Polycystic Liver Disease 12 20 36 29 54 6 15 70
Isolated Polycystic Liver Disease 20 58
Pcld 20 58
Isolated Autosomal Dominant Polycystic Liver Disease 20
Autosomal Dominant Polycystic Liver Disease 58
Congenital Cystic Liver Disease 12
Fibrocystic Liver Disease 12
Liver Disease, Polycystic 39
Congenital Hepatic Cyst 12
Adpcld 58

Characteristics:

Orphanet epidemiological data:

58
isolated polycystic liver disease
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050770
KEGG 36 H00545
MESH via Orphanet 45 C536330
ICD10 via Orphanet 33 Q44.6
UMLS via Orphanet 71 C0158683
Orphanet 58 ORPHA2924
UMLS 70 C0158683

Summaries for Polycystic Liver Disease

GARD : 20 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.

MalaCards based summary : Polycystic Liver Disease, also known as isolated polycystic liver disease, is related to polycystic liver disease 1 with or without kidney cysts and polycystic kidney disease 2 with or without polycystic liver disease, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease is PRKCSH (Protein Kinase C Substrate 80K-H), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Metabolism of proteins. The drugs lanreotide and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and pancreas, and related phenotypes are hepatomegaly and abdominal distention

Disease Ontology : 12 A liver disease that is characterized by the presence of multiple cysts located in the liver.

KEGG : 36 Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients with isolated polycystic liver disease.

Wikipedia : 73 Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout... more...

Related Diseases for Polycystic Liver Disease

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 polycystic liver disease 1 with or without kidney cysts 33.3 SEC63 PRKCSH PKHD1 PKD2 PKD1 FBN1
2 polycystic kidney disease 2 with or without polycystic liver disease 33.0 SEC63 PRKCSH PKHD1 PKD2 PKD1
3 polycystic kidney disease 4 with or without polycystic liver disease 32.8 SST SEC63 SEC61B PRKCSH PKHD1 PKD2
4 polycystic kidney disease 1 with or without polycystic liver disease 32.8 SEC63 PRKCSH PKHD1 PKD2 PKD1 GANAB
5 congenital hepatic fibrosis 32.5 PKHD1 PKD1
6 liver disease 32.1 SEC63 SEC61B PRKCSH PKHD1 PKD2 PKD1
7 polycystic kidney disease 31.5 SST PRKCSH PKHD1 PKD2 PKD1 MIR15A
8 autosomal dominant polycystic kidney disease 31.5 SEC63 PRKCSH PKHD1 PKD2 PKD1 LRP5
9 portal hypertension 31.4 SST PKHD1 ALB
10 kidney disease 31.2 SEC61A1 PKHD1 PKD2 PKD1 LRP5 GANAB
11 esophageal varix 30.8 SST PKHD1 ALB
12 cystic kidney disease 30.4 SEC63 PRKCSH PKHD1 PKD2 PKD1 ALB
13 polycystic liver disease 2 with or without kidney cysts 11.7
14 polycystic liver disease 3 with or without kidney cysts 11.7
15 polycystic liver disease 4 with or without kidney cysts 11.7
16 polycystic kidney disease 6 with or without polycystic liver disease 11.6
17 polycystic kidney disease 3 with or without polycystic liver disease 11.6
18 polycystic kidney disease 4 10.5 PKHD1 ALB
19 pylorus cancer 10.5 SST ALB
20 multicystic dysplastic kidney 10.5 PKD2 PKD1
21 nephronophthisis 2 10.5 PKHD1 PKD2 PKD1
22 ascending cholangitis 10.5 PKHD1 ALB
23 oligohydramnios 10.5 PKHD1 AQP1 ALG8
24 yellow nail syndrome 10.5 SST ALB
25 hepatic vascular disease 10.4 SST PKHD1 ALB
26 nephronophthisis-like nephropathy 1 10.4 SEC63 PRKCSH
27 congenital disorder of glycosylation, type iio 10.4 ALG9 ALG8
28 caroli disease 10.4 SEC63 PRKCSH PKHD1 PKD2 PKD1
29 mccune-albright syndrome 10.4 SST LRP5 FBN1
30 exudative vitreoretinopathy 4 10.4 NXN LRP5
31 angular cheilitis 10.4 SST ALB
32 kartagener syndrome 10.4 PKHD1 PKD2 PKD1 ODAD3
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4 PKD2 PKD1 FBN1 ALB
34 orthostatic intolerance 10.4 SEC63 PRKCSH PKHD1 PKD2 PKD1 FBN1
35 obstructive jaundice 10.4
36 active peptic ulcer disease 10.4 SST ALB
37 joubert syndrome 1 10.4 SEC63 PRKCSH PKHD1 PKD2 PKD1
38 meckel diverticulum 10.4 SST ALB
39 central pontine myelinolysis 10.4 AQP1 ALB
40 congenital disorder of glycosylation, type iih 10.4 ALG9 ALG8
41 aortic aneurysm, familial abdominal, 1 10.4 MIR15A FBN1 ALB
42 volvulus of midgut 10.3 SST ALB
43 inappropriate adh syndrome 10.3 AQP1 ALB
44 patent foramen ovale 10.3 SST FBN1 ALB
45 varicose veins 10.2
46 budd-chiari syndrome 10.2
47 cholangitis 10.2
48 aneurysm 10.2
49 cholangiocarcinoma 10.1
50 cholestasis 10.1

Comorbidity relations with Polycystic Liver Disease via Phenotypic Disease Network (PDN):


Chronic Kidney Disease Polycystic Kidney Disease

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



Diseases related to Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Liver Disease

Human phenotypes related to Polycystic Liver Disease:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
3 polycystic liver disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006557
4 multiple renal cysts 58 31 frequent (33%) Frequent (79-30%) HP:0005562
5 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
6 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
7 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
8 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
9 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
10 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
11 abnormality of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001732
12 increased total bilirubin 58 31 occasional (7.5%) Occasional (29-5%) HP:0003573
13 vascular dilatation 31 occasional (7.5%) HP:0002617
14 abnormality of the respiratory system 58 Occasional (29-5%)
15 dilatation 58 Occasional (29-5%)

UMLS symptoms related to Polycystic Liver Disease:


hepatosplenomegaly

GenomeRNAi Phenotypes related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.17 PKD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.17 AQP1 NXN PKD2 SEC63 SST
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 PKD2

MGI Mouse Phenotypes related to Polycystic Liver Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 ALB ALG8 AQP1 DNAJB11 FBN1 LRP5
2 cellular MP:0005384 10.14 ALB FBN1 LRP5 NXN ODAD3 PKD1
3 endocrine/exocrine gland MP:0005379 10.11 ALB AQP1 FBN1 LRP5 NXN ODAD3
4 mortality/aging MP:0010768 10.06 ALB ALG8 ALG9 AQP1 DNAJB11 FBN1
5 adipose tissue MP:0005375 10.03 ALG8 ALG9 AQP1 FBN1 NXN PKD1
6 liver/biliary system MP:0005370 9.96 ALB LRP5 NXN ODAD3 PKD1 PKD2
7 renal/urinary system MP:0005367 9.56 ALB AQP1 FBN1 PKD1 PKD2 PKHD1
8 respiratory system MP:0005388 9.17 AQP1 FBN1 NXN ODAD3 PKD1 PKD2

Drugs & Therapeutics for Polycystic Liver Disease

Drugs for Polycystic Liver Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 2, Phase 3 108736-35-2
2
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
3 Liver Extracts Phase 2, Phase 3
4 Angiopeptin Phase 2, Phase 3
5 Gastrointestinal Agents Phase 2, Phase 3
6 Antineoplastic Agents, Hormonal Phase 2, Phase 3
7
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
8
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
9
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
10
Pasireotide Approved Phase 2 396091-73-9 9941444
11 Hormones Phase 2
12 Hormone Antagonists Phase 2
13
tannic acid Approved 1401-55-4
14
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
15
Mycophenolic acid Approved 24280-93-1 446541
16
Clotrimazole Approved, Vet_approved 23593-75-1 2812
17
Prednisone Approved, Vet_approved 53-03-2 5865
18
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
19
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
20
Sirolimus Approved, Investigational 53123-88-9 5284616 6436030
21 Immunosuppressive Agents
22 Immunologic Factors
23 Anti-Bacterial Agents
24 Antibiotics, Antitubercular
25 Antitubercular Agents
26 glucocorticoids
27 Antifungal Agents
28 Calcineurin Inhibitors
29 Anti-Inflammatory Agents
30 Anti-Infective Agents

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Open-Label Extension of the LOCKCYST Trial, LOCKCYST: Long Acting Lnareotide as as Volume Reducing Treatment of Polycystic Livers Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
2 An Open-label, Phase II Clinical Study to Evaluate the Efficacy and Safety of Lanreotide Autogel 90mg Every 4 Weeks in the Treatment of Symptomatic Polycystic Liver Disease, Including a Dose Escalation at Month 6 to Lanreotide Autogel 120mg for Non Responders Completed NCT01315795 Phase 2, Phase 3 Lanreotide Autogel 90 mg and 120 mg
3 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
4 Pilot Study Of Long-Acting Octreotide (Octreotide LAR® Depot) In The Treatment Of Patients With Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
5 Everolimus Added to Long Acting Octreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT01157858 Phase 2 Everolimus;Octreotide LAR
6 An International, Multicenter, Randomized Controlled Clinical Trial Assessing the Efficacy of Ursodeoxycholic Acid as a Volume Reducing Treatment in Symptomatic Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
7 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
8 The Effect of Lanreotide on Volume of Polycystic Liver and Kidney in Autosomal Dominant Polycystic Kidney Disease Completed NCT01354405 Lanreotide
9 Development and Assessment of the Psychometric Properties of a Polycystic Liver Disease-specific Patient Reported Outcomes Questionnaire (PLD-Q). Recruiting NCT02173080
10 Automatic Segmentation by a Convolutional Neural Network (Artificial Intelligence - Deep Learning) of Polycystic Livers, as a Model of Multi-lesional Dysmorphic Livers Recruiting NCT03960710
11 Polycystic Liver Disease Registry (UK) Not yet recruiting NCT04645251
12 Single Center, Open-label Randomized Prospective Trial: Effect of Sirolimus on Polycystic Liver Disease Terminated NCT00934791 Tacrolimus;Sirolimus;Mycophenolate Mofetil;Prednisone

Search NIH Clinical Center for Polycystic Liver Disease

Genetic Tests for Polycystic Liver Disease

Genetic tests related to Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 29

Anatomical Context for Polycystic Liver Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Polycystic Liver Disease:

19
Liver

MalaCards organs/tissues related to Polycystic Liver Disease:

40
Liver, Kidney, Pancreas, Cervix, Heart, Endothelial, Tongue

Publications for Polycystic Liver Disease

Articles related to Polycystic Liver Disease:

(show top 50) (show all 655)
# Title Authors PMID Year
1
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. 61 54 6
12529853 2003
2
Isolated polycystic liver disease genes define effectors of polycystin-1 function. 6 61
28375157 2017
3
Mutations in SEC63 cause autosomal dominant polycystic liver disease. 61 6
15133510 2004
4
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. 6 61
12577059 2003
5
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. 61 6
11047756 2000
6
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. 6
29038287 2018
7
MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. 47 61
18949056 2008
8
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. 54 61
19308730 2010
9
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. 61 54
19801576 2010
10
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 61 54
19766642 2010
11
Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients. 61 54
18419150 2008
12
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. 61 54
18224332 2008
13
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. 61 54
16835903 2006
14
Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. 61 54
16437702 2005
15
[Cystic liver diseases. Genetics and cell biology]. 61 54
16294159 2005
16
Polycystic liver disease is a disorder of cotranslational protein processing. 54 61
15649821 2005
17
Polycystic disease of the liver. 54 61
15382167 2004
18
Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease. 54 61
15188177 2004
19
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. 54 61
15057895 2004
20
[From gene to disease; hepatocystin and autosomal dominant polycystic liver disease]. 61 54
12894465 2003
21
Metformin slows liver cyst formation and fibrosis in experimental model of polycystic liver disease. 61
33439105 2021
22
Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease. 61
33811288 2021
23
Progress in research on the roles of TGR5 receptor in liver diseases. 61
33771073 2021
24
Polyvisceral polycystic disease: a case study and review. 61
33661510 2021
25
Polycystic liver disease genes: Practical considerations for genetic testing. 61
33556586 2021
26
JNK signaling prevents biliary cyst formation through a CASPASE-8-dependent function of RIPK1 during aging. 61
33798093 2021
27
Partial major hepatectomy with cyst fenestration for polycystic liver disease: indications, short and long-term outcomes. 61
33722781 2021
28
Liver transplantation in adult polycystic liver disease: the Ontario experience. 61
33750299 2021
29
Targeting UBC9-mediated protein hyper-SUMOylation in cystic cholangiocytes halts polycystic liver disease in experimental models. 61
32950589 2021
30
Liver and kidney transplantation in polycystic liver and kidney disease. 61
33548353 2021
31
A practical guide for the management of acute abdominal pain with fever in patients with autosomal dominant polycystic kidney disease. 61
33570579 2021
32
Contemporary Management of Hepatic Cyst Disease: Techniques and Outcomes at a Tertiary Hepatobiliary Center. 61
33083858 2021
33
Deletion of Sox9 in the liver leads to hepatic cystogenesis in mice by transcriptionally downregulating Sec63. 61
33512716 2021
34
Preserving the organ donor pool and suprahepatic vena cava: Case series of transverse hepatectomy for polycystic liver disease. 61
31543466 2021
35
Laparoscopic hepatic lobectomy for symptomatic polycystic liver disease. 61
32451237 2021
36
Synthetic Conjugates of Ursodeoxycholic Acid Inhibit Cystogenesis in Experimental Models of Polycystic Liver Disease. 61
32145077 2021
37
Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease. 61
33569422 2021
38
Anterior Approach for Hepatectomy Before Piggyback Liver Transplantation in Giant Polycystic Liver Disease. 61
32559021 2020
39
Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county. 61
33145487 2020
40
Unusual liver-related heart injury. 61
33319066 2020
41
Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import. 61
32133789 2020
42
Severe polycystic liver disease as a rare indication for liver transplant. 61
32820882 2020
43
Novel GANAB variants associated with polycystic liver disease. 61
33097077 2020
44
CystAnalyser: A new software tool for the automatic detection and quantification of cysts in Polycystic Kidney and Liver Disease, and other cystic disorders. 61
33090995 2020
45
Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease. 61
33554127 2020
46
Efficacy and safety of selective decontamination of the digestive tract (SDD) to prevent recurrent hepatic cyst infections in polycystic liver disease: a retrospective case series. 61
32437580 2020
47
Polycystic liver disease, an atypical cause of cardiac tamponade. 61
32943253 2020
48
Pansomatostatin Agonist Pasireotide Long-Acting Release for Patients with Autosomal Dominant Polycystic Kidney or Liver Disease with Severe Liver Involvement: A Randomized Clinical Trial. 61
32843370 2020
49
Modulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling. 61
32335259 2020
50
Review: Pathogenesis of cholestatic liver diseases. 61
32952871 2020

Variations for Polycystic Liver Disease

ClinVar genetic disease variations for Polycystic Liver Disease:

6 (show top 50) (show all 304)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEC63 NM_007214.5(SEC63):c.173G>A (p.Trp58Ter) SNV Pathogenic 2167 rs119103233 GRCh37: 6:108250670-108250670
GRCh38: 6:107929466-107929466
2 SEC63 NM_007214.5(SEC63):c.442_443insA (p.Ala148fs) Insertion Pathogenic 2168 rs886041027 GRCh37: 6:108243010-108243011
GRCh38: 6:107921806-107921807
3 SEC63 NM_007214.5(SEC63):c.733+1G>A SNV Pathogenic 2169 rs886041028 GRCh37: 6:108230130-108230130
GRCh38: 6:107908926-107908926
4 SEC63 NM_007214.5(SEC63):c.514+1G>A SNV Pathogenic 522474 rs1554236269 GRCh37: 6:108234569-108234569
GRCh38: 6:107913365-107913365
5 GANAB NM_198334.3(GANAB):c.621del (p.Asp207fs) Deletion Pathogenic 590348 rs1565099895 GRCh37: 11:62400926-62400926
GRCh38: 11:62633454-62633454
6 GANAB NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro) SNV Pathogenic 590349 rs1465649718 GRCh37: 11:62397125-62397125
GRCh38: 11:62629653-62629653
7 GANAB NM_198334.3(GANAB):c.1936+1G>C SNV Pathogenic 590350 rs1565092899 GRCh37: 11:62396665-62396665
GRCh38: 11:62629193-62629193
8 GANAB NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter) SNV Pathogenic 590351 rs1565088616 GRCh37: 11:62394111-62394111
GRCh38: 11:62626639-62626639
9 GANAB NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter) SNV Pathogenic 590352 rs1210158408 GRCh37: 11:62393841-62393841
GRCh38: 11:62626369-62626369
10 ALG9 NM_024740.2(ALG9):c.1109G>A (p.Arg370Lys) SNV Pathogenic 631493 GRCh37: 11:111711442-111711442
GRCh38: 11:111840719-111840719
11 SEC63 NM_007214.5(SEC63):c.1586dup (p.Lys530fs) Duplication Pathogenic 1027734 GRCh37: 6:108214773-108214774
GRCh38: 6:107893569-107893570
12 SEC63 NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter) SNV Pathogenic 1048655 GRCh37: 6:108225864-108225864
GRCh38: 6:107904660-107904660
13 SEC63 NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del) Microsatellite Pathogenic 354899 rs752018806 GRCh37: 6:108204320-108204322
GRCh38: 6:107883116-107883118
14 PRKCSH NM_002743.3(PRKCSH):c.1341-2A>G SNV Pathogenic 13238 rs1555728968 GRCh37: 19:11559889-11559889
GRCh38: 19:11449074-11449074
15 PRKCSH NM_002743.3(PRKCSH):c.292+1G>C SNV Pathogenic 13239 rs774233325 GRCh37: 19:11548793-11548793
GRCh38: 19:11437972-11437972
16 PRKCSH NM_002743.3(PRKCSH):c.1440+2_1440+3del Deletion Pathogenic 13240 rs757957327 GRCh37: 19:11559991-11559992
GRCh38: 19:11449176-11449177
17 PRKCSH NM_002743.3(PRKCSH):c.1240C>T (p.Gln414Ter) SNV Pathogenic 13241 rs121918519 GRCh37: 19:11559419-11559419
GRCh38: 19:11448604-11448604
18 PRKCSH NM_002743.3(PRKCSH):c.1269C>G (p.Tyr423Ter) SNV Pathogenic 13242 rs121918520 GRCh37: 19:11559732-11559732
GRCh38: 19:11448917-11448917
19 PRKCSH NM_002743.3(PRKCSH):c.215dup (p.Asn72fs) Duplication Pathogenic 13243 rs1555725707 GRCh37: 19:11548713-11548714
GRCh38: 19:11437892-11437893
20 SEC63 NM_007214.5(SEC63):c.452+1G>A SNV Pathogenic 225118 rs869312977 GRCh37: 6:108243000-108243000
GRCh38: 6:107921796-107921796
21 SEC63 NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) Deletion Pathogenic 225125 rs869312978 GRCh37: 6:108250623-108250623
GRCh38: 6:107929419-107929419
22 PRKCSH NM_002743.3(PRKCSH):c.1395T>G (p.Tyr465Ter) SNV Pathogenic 492970 rs1555728990 GRCh37: 19:11559945-11559945
GRCh38: 19:11449130-11449130
23 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) Deletion Pathogenic 523354 rs1553927823 GRCh37: 4:88986956-88986959
GRCh38: 4:88065804-88065807
24 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) SNV Pathogenic 433952 rs747483368 GRCh37: 16:2164809-2164809
GRCh38: 16:2114808-2114808
25 PKD1 NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del) Microsatellite Pathogenic 523387 rs1555454847 GRCh37: 16:2159267-2159269
GRCh38: 16:2109266-2109268
26 PRKCSH NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs) Duplication Pathogenic 992438 GRCh37: 19:11559099-11559100
GRCh38: 19:11448284-11448285
27 PRKCSH NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) Microsatellite Pathogenic 1048653 GRCh37: 19:11552071-11552072
GRCh38: 19:11441256-11441257
28 PKHD1 NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) SNV Likely pathogenic 4114 rs137852949 GRCh37: 6:51923147-51923147
GRCh38: 6:52058349-52058349
29 PKHD1 NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) SNV Likely pathogenic 4108 rs137852944 GRCh37: 6:51947999-51947999
GRCh38: 6:52083201-52083201
30 PRKCSH NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter) SNV Likely pathogenic 992384 GRCh37: 19:11548895-11548895
GRCh38: 19:11438074-11438074
31 FBN1 NM_000138.4(FBN1):c.7274A>G (p.Tyr2425Cys) SNV Likely pathogenic 373976 rs1057518809 GRCh37: 15:48717992-48717992
GRCh38: 15:48425795-48425795
32 SEC63 NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg) SNV Likely pathogenic 992380 GRCh37: 6:108224133-108224133
GRCh38: 6:107902929-107902929
33 GANAB NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys) SNV Likely pathogenic 590353 rs1565093675 GRCh37: 11:62397108-62397108
GRCh38: 11:62629636-62629636
34 GANAB NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly) SNV Likely pathogenic 590354 rs1565092566 GRCh37: 11:62396481-62396481
GRCh38: 11:62629009-62629009
35 GANAB NM_198334.3(GANAB):c.38G>A (p.Arg13Gln) SNV Likely pathogenic 590357 rs1565116806 GRCh37: 11:62414034-62414034
GRCh38: 11:62646562-62646562
36 PKHD1 NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) SNV Likely pathogenic 631985 rs201812542 GRCh37: 6:51483962-51483962
GRCh38: 6:51619164-51619164
37 PKHD1 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) SNV Likely pathogenic 198314 rs781368899 GRCh37: 6:51524705-51524705
GRCh38: 6:51659907-51659907
38 PKHD1 NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter) SNV Likely pathogenic 684633 rs1582441455 GRCh37: 6:51613206-51613206
GRCh38: 6:51748408-51748408
39 PKHD1 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) Deletion Likely pathogenic 188746 rs746972457 GRCh37: 6:51890842-51890842
GRCh38: 6:52026044-52026044
40 PKHD1 NM_138694.4(PKHD1):c.880+1G>C SNV Likely pathogenic 684634 rs1582064292 GRCh37: 6:51930773-51930773
GRCh38: 6:52065975-52065975
41 PKHD1 NM_138694.4(PKHD1):c.820dup (p.Arg274fs) Duplication Likely pathogenic 684635 rs1582064844 GRCh37: 6:51930833-51930834
GRCh38: 6:52066035-52066036
42 SEC63 NM_007214.5(SEC63):c.1936-7_1936-5dup Duplication Conflicting interpretations of pathogenicity 354897 rs766716921 GRCh37: 6:108197870-108197871
GRCh38: 6:107876666-107876667
43 SEC63 NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del) Microsatellite Conflicting interpretations of pathogenicity 354899 rs752018806 GRCh37: 6:108204320-108204322
GRCh38: 6:107883116-107883118
44 PRKCSH NM_002743.3(PRKCSH):c.416G>A (p.Arg139His) SNV Conflicting interpretations of pathogenicity 283561 rs139991238 GRCh37: 19:11552120-11552120
GRCh38: 19:11441305-11441305
45 SEC63 NM_007214.4(SEC63):c.-237C>T SNV Uncertain significance 354923 rs563388363 GRCh37: 6:108279450-108279450
GRCh38: 6:107958246-107958246
46 PRKCSH NM_002743.3(PRKCSH):c.702G>A (p.Leu234=) SNV Uncertain significance 328178 rs886054198 GRCh37: 19:11557105-11557105
GRCh38: 19:11446290-11446290
47 SEC63 NM_007214.5(SEC63):c.1936-4_1936-3insT Insertion Uncertain significance 354892 rs773608064 GRCh37: 6:108197869-108197870
GRCh38: 6:107876665-107876666
48 SEC63 NM_007214.5(SEC63):c.*1932_*1933insA Insertion Uncertain significance 354856 rs886060946 GRCh37: 6:108190975-108190976
GRCh38: 6:107869771-107869772
49 SEC63 NM_007214.5(SEC63):c.1936-7dup Duplication Uncertain significance 354895 rs766716921 GRCh37: 6:108197870-108197871
GRCh38: 6:107876666-107876667
50 SEC63 NM_007214.5(SEC63):c.1210-7del Deletion Uncertain significance 354906 rs370485907 GRCh37: 6:108222728-108222728
GRCh38: 6:107901524-107901524

Expression for Polycystic Liver Disease

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

Pathways for Polycystic Liver Disease

Pathways related to Polycystic Liver Disease according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Polycystic Liver Disease

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.87 SEC63 SEC62 SEC61B SEC61A1 PKD2 ALG9
2 endoplasmic reticulum lumen GO:0005788 9.65 PRKCSH GANAB FBN1 DNAJB11 ALB
3 endoplasmic reticulum GO:0005783 9.47 SEC63 SEC62 SEC61B SEC61A1 PRKCSH PKHD1
4 cation channel complex GO:0034703 9.4 PKD2 PKD1
5 Sec61 translocon complex GO:0005784 9.37 SEC61B SEC61A1
6 glucosidase II complex GO:0017177 9.16 PRKCSH GANAB
7 polycystin complex GO:0002133 8.96 PKD2 PKD1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.83 PKD2 PKD1 NXN LRP5
2 calcium ion transmembrane transport GO:0070588 9.78 SEC61A1 PKD2 PKD1
3 kidney development GO:0001822 9.67 PKHD1 PKD2 PKD1 FBN1
4 embryonic placenta development GO:0001892 9.6 PKD2 PKD1
5 N-glycan processing GO:0006491 9.59 PRKCSH GANAB
6 mannosylation GO:0097502 9.58 ALG9 ALG8
7 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.58 ALG9 ALG8
8 protein heterotetramerization GO:0051290 9.57 PKD2 PKD1
9 placenta blood vessel development GO:0060674 9.56 PKD2 PKD1
10 liver development GO:0001889 9.56 SEC63 PRKCSH PKD2 PKD1
11 detection of mechanical stimulus GO:0050982 9.55 PKD2 PKD1
12 cotranslational protein targeting to membrane GO:0006613 9.54 SEC62 SEC61A1
13 cytoplasmic sequestering of transcription factor GO:0042994 9.51 PKD2 PKD1
14 hyperosmotic response GO:0006972 9.49 SST AQP1
15 SRP-dependent cotranslational protein targeting to membrane, translocation GO:0006616 9.48 SEC61B SEC61A1
16 mesonephric tubule development GO:0072164 9.46 PKD2 PKD1
17 metanephric ascending thin limb development GO:0072218 9.43 PKD2 PKD1
18 mesonephric duct development GO:0072177 9.4 PKD2 PKD1
19 nitrogen compound metabolic process GO:0006807 9.33 SEC63 PRKCSH PKD1
20 cell-cell signaling by wnt GO:0198738 9.32 PKD2 PKD1
21 posttranslational protein targeting to endoplasmic reticulum membrane GO:0006620 9.13 SEC63 SEC62 SEC61A1
22 posttranslational protein targeting to membrane, translocation GO:0031204 8.92 SEC63 SEC62 SEC61B SEC61A1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.43 PRKCSH PKD2 PKD1
2 protein transmembrane transporter activity GO:0008320 9.16 SEC63 SEC61A1
3 Wnt-activated receptor activity GO:0042813 8.96 PKD1 LRP5
4 calcium channel activity GO:0005262 8.8 SEC61A1 PKD2 PKD1

Sources for Polycystic Liver Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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