PCLD
MCID: PLY023
MIFTS: 57

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 52 36 29 54 6 15 71
Isolated Polycystic Liver Disease 52 58
Pcld 52 58
Isolated Autosomal Dominant Polycystic Liver Disease 52
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 44 C536330
ICD10 via Orphanet 33 Q44.6
UMLS via Orphanet 72 C0158683
Orphanet 58 ORPHA2924
UMLS 71 C0158683

Summaries for Polycystic Liver Disease

NIH Rare Diseases : 52 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 3 with or without polycystic liver disease, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and N-Glycan biosynthesis. The drugs lanreotide and Pasireotide 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 : 74 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 128)
# Related Disease Score Top Affiliating Genes
1 polycystic liver disease 1 with or without kidney cysts 35.1 SEC63 PRKCSH PKHD1 PKD2 PKD1 LRP5
2 polycystic kidney disease 3 with or without polycystic liver disease 35.0 PRKD1 PKD2 PKD1 GANAB
3 polycystic kidney disease 2 with or without polycystic liver disease 34.8 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
4 polycystic kidney disease 1 with or without polycystic liver disease 34.6 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
5 polycystic kidney disease 4 with or without polycystic liver disease 34.4 SST SEC63 SEC61B PRKD1 PRKCSH PKHD1
6 congenital hepatic fibrosis 33.4 PKHD1 PKD1
7 liver disease 31.8 SEC63 SEC61B PRKCSH PKHD1 PKD2 PKD1
8 autosomal dominant polycystic kidney disease 31.4 PRKD1 PKHD1 PKD2 PKD1 LRP5 GANAB
9 portal hypertension 31.4 SST PKHD1 ALB
10 polycystic kidney disease 31.1 SST PRKD1 PRKCSH PKHD1 PKD2 PKD1
11 kidney disease 31.1 PKHD1 PKD2 PKD1 LRP5 GANAB DNAJB11
12 cholangitis 31.0 SST GGT1 ALB
13 esophageal varix 30.8 SST PKHD1 GGT1 ALB
14 bile duct cysts 30.7 PRKCSH GGT1
15 end stage renal disease 30.7 PKD2 PKD1 ALB
16 cholelithiasis 30.5 SST GGT1 ALB
17 cystic kidney disease 30.1 SST SEC63 PRKD1 PRKCSH PKHD1 PKD2
18 polycystic liver disease 2 with or without kidney cysts 12.8
19 polycystic liver disease 3 with or without kidney cysts 12.8
20 polycystic liver disease 4 with or without kidney cysts 12.7
21 polycystic kidney disease 6 with or without polycystic liver disease 12.7
22 polycystic kidney disease 4 10.7 PKHD1 ALB
23 multicystic dysplastic kidney 10.7 PKD2 PKD1
24 pylorus cancer 10.6 SST ALB
25 nephronophthisis 2 10.6 PKHD1 PKD2 PKD1
26 congenital disorder of glycosylation, type iig 10.6 ALG9 ALG8
27 congenital disorder of glycosylation, type iio 10.6 ALG9 ALG8
28 subacute glomerulonephritis 10.6 PRKD1 ALB
29 oligohydramnios 10.6 PKHD1 AQP1 ALG8
30 ascending cholangitis 10.6 PRKD1 PKHD1 ALB
31 hepatic tuberculosis 10.6 GGT1 ALB
32 congenital disorder of glycosylation, type iip 10.6 ALG9 ALG8
33 nephronophthisis-like nephropathy 1 10.6 SEC63 PRKCSH
34 congenital disorder of glycosylation, type iii 10.6 ALG9 ALG8
35 yellow nail syndrome 10.6 SST ALB
36 mccune-albright syndrome 10.5 SST LRP5 FBN1
37 caroli disease 10.5 SEC63 PRKCSH PKHD1 PKD2 PKD1
38 angular cheilitis 10.5 SST ALB
39 vein disease 10.5 SST GGT1 ALB
40 urinary tract obstruction 10.5 GGT1 AQP1 ALB
41 congenital disorder of glycosylation, type iih 10.5 ALG9 ALG8
42 acute cholangitis 10.5 GGT1 ALB
43 nephronophthisis 10.5 PRKD1 PKHD1 PKD2 PKD1
44 lens disease 10.5 GGT1 FBN1 ALB
45 hepatic vascular disease 10.5 SST PKHD1 GGT1 ALB
46 bile acid synthesis defect, congenital, 1 10.5 GGT1 ALB
47 autosomal genetic disease 10.4 PRKD1 PKD2 PKD1 GGT1 ALB
48 active peptic ulcer disease 10.4 SST ALB
49 common bile duct disease 10.4 GGT1 ALB
50 gallbladder disease 10.4 SST GGT1 ALB

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


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 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
6 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
7 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
8 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
9 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
10 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
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 dilatation 31 occasional (7.5%) HP:0002617
14 abnormality of the respiratory system 58 Occasional (29-5%)
15 aneurysm 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 ALB AQP1 CCDC151 DNAJB11 FBN1 LRP5
2 cellular MP:0005384 10.11 ALB CCDC151 FBN1 GGT1 LRP5 NXN
3 homeostasis/metabolism MP:0005376 10.07 ALB AQP1 CCDC151 DNAJB11 FBN1 GGT1
4 endocrine/exocrine gland MP:0005379 10.02 ALB AQP1 CCDC151 FBN1 GGT1 LRP5
5 mortality/aging MP:0010768 9.89 ALB ALG8 ALG9 AQP1 CCDC151 DNAJB11
6 liver/biliary system MP:0005370 9.81 ALB CCDC151 LRP5 NXN PKD1 PKD2
7 renal/urinary system MP:0005367 9.28 ALB AQP1 FBN1 GGT1 PKD1 PKD2

Drugs & Therapeutics for Polycystic Liver Disease

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 2, Phase 3 108736-35-2
2
Pasireotide Approved Phase 3 396091-73-9 9941444
3
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
4
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
5
Ethanol Approved Phase 3 64-17-5 702
6 Angiopeptin Phase 2, Phase 3
7 Gastrointestinal Agents Phase 2, Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10 Anti-Infective Agents Phase 3
11 Pharmaceutical Solutions Phase 3
12 Anti-Infective Agents, Local Phase 3
13
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
14
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
15
Prednisone Approved, Vet_approved 53-03-2 5865
16
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
17
Clotrimazole Approved, Vet_approved 23593-75-1 2812
18
Mycophenolic acid Approved 24280-93-1 446541
19
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
20
tannic acid Approved 1401-55-4
21
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
22
Sirolimus Approved, Investigational 53123-88-9 5284616 6436030 46835353
23 Liver Extracts
24 Antineoplastic Agents, Hormonal
25 Immunosuppressive Agents
26 Immunologic Factors
27 Antitubercular Agents
28 glucocorticoids
29 Anti-Bacterial Agents
30 Antifungal Agents
31 Antibiotics, Antitubercular
32 Calcineurin Inhibitors
33 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 16)
# 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 The DIPAK 1 Study: A Randomised, Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in ADPKD Unknown status NCT01616927 Phase 3 Lanreotide
3 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
4 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
5 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
6 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
7 Assessing Efficacy of Combining Pasireotide With Aspiration Sclerotherapy to Improve Volume Reduction of Dominant Hepatic Cysts: a Randomized, Double-blind, Placebo-controlled Clinical Trial. Completed NCT02048319 Phase 3 Pasireotide LAR 60 mg;Placebo
8 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
9 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
10 Everolimus Added to Long Acting Octreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT01157858 Phase 2 Everolimus;Octreotide LAR
11 The Effect of Lanreotide on Volume of Polycystic Liver and Kidney in Autosomal Dominant Polycystic Kidney Disease Completed NCT01354405 Lanreotide
12 Rapamycin in Advanced Polycystic Kidney Disease Pilot Study Completed NCT01632605 Sirolimus
13 Development and Assessment of the Psychometric Properties of a Polycystic Liver Disease-specific Patient Reported Outcomes Questionnaire (PLD-Q). Recruiting NCT02173080
14 A Prospective Observational Study of Foam Sclerotherapy for the Treatment of Symptomatic Kidney or Liver Cysts in Patients With Autosomal Dominant Polycystic Kidney and Liver Disease. Recruiting NCT04111692
15 Automatic Segmentation by a Convolutional Neural Network (Artificial Intelligence - Deep Learning) of Polycystic Livers, as a Model of Multi-lesional Dysmorphic Livers Recruiting NCT03960710
16 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, Endothelial, Lung, Breast

Publications for Polycystic Liver Disease

Articles related to Polycystic Liver Disease:

(show top 50) (show all 630)
# Title Authors PMID Year
1
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. 54 6 61
12529853 2003
2
Mutations in SEC63 cause autosomal dominant polycystic liver disease. 61 6
15133510 2004
3
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. 61 6
12577059 2003
4
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. 61 6
11047756 2000
5
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. 6
29038287 2018
6
MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. 46 61
18949056 2008
7
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. 54 61
19308730 2010
8
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. 61 54
19801576 2010
9
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 61 54
19766642 2010
10
Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients. 54 61
18419150 2008
11
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. 54 61
18224332 2008
12
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. 54 61
16835903 2006
13
Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. 54 61
16437702 2005
14
[Cystic liver diseases. Genetics and cell biology]. 54 61
16294159 2005
15
Polycystic liver disease is a disorder of cotranslational protein processing. 61 54
15649821 2005
16
Polycystic disease of the liver. 61 54
15382167 2004
17
Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease. 54 61
15188177 2004
18
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. 61 54
15057895 2004
19
[From gene to disease; hepatocystin and autosomal dominant polycystic liver disease]. 61 54
12894465 2003
20
Modulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling. 61
32335259 2020
21
Symptom relief and quality of life after combined partial hepatectomy and cyst fenestration in highly symptomatic polycystic liver disease. 61
32402542 2020
22
Proteostasis disturbances and endoplasmic reticulum stress contribute to polycystic liver disease: New therapeutic targets. 61
32378324 2020
23
Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis. 61
31027922 2020
24
Anterior approach for hepatectomy before piggy-back liver transplantation in giant polycystic liver disease. 61
32559021 2020
25
Effects of Long-Term Exercise on Liver Cyst in Polycystic Liver Disease Model Rats. 61
31880641 2020
26
New insights into targeting hepatic cystogenesis in autosomal dominant polycystic liver and kidney disease. 61
32250187 2020
27
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1. 61
32381729 2020
28
Polycystic Liver With Cardiac Compression Leading to Atrial Fibrillation: Case Report and Review of the Literature. 61
32523833 2020
29
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
30
Laparoscopic hepatic lobectomy for symptomatic polycystic liver disease. 61
32451237 2020
31
Liver transplantation in a patient with massive polycystic liver disease. 61
32037279 2020
32
Obstructive jaundice in a patient with polycystic liver disease complicated with polycystic kidney and polycystic lung: A case report. 61
32243367 2020
33
Development and outcomes of the French liver allocation system. 61
32073486 2020
34
New synthetic conjugates of ursodeoxycholic acid inhibit cystogenesis in experimental models of polycystic liver disease. 61
32145077 2020
35
Polycystic liver disease: Classification, diagnosis, treatment process, and clinical management. 61
32231761 2020
36
Polycystic Liver Disease in a Patient With Metastatic Renal Cell Carcinoma: A Case Report. 61
32132053 2020
37
Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import. 61
32133789 2020
38
Effects of material parameters on the transient dynamics of an impacted plate with partial constrained layer damping treatment. 61
32237798 2020
39
The management of polycystic liver disease by tolvaptan. 61
31189297 2020
40
A Rapidly Progressing Polycystic Liver Disease? 61
31376387 2020
41
Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice. 61
32550232 2020
42
Long-acting somatostatin analogue treatments in autosomal dominant polycystic kidney disease and polycystic liver disease: a systematic review and meta-analysis. 61
31924636 2020
43
Transarterial embolisation with bleomycin and N-butyl-2-cyanoacrylate -Lipiodol mixture for symptomatic polycystic liver disease: preliminary experience. 61
31551146 2019
44
Estrogen-Containing Oral Contraceptives Are Associated With Polycystic Liver Disease Severity in Premenopausal Patients. 61
31206615 2019
45
A Practical Approach to Polycystic Liver Disease. 61
31879559 2019
46
Management of portal hypertension and ascites in polycystic liver disease. 61
31505092 2019
47
ALG9 Mutation Carriers Develop Kidney and Liver Cysts. 61
31395617 2019
48
Venous Stent Placement for Refractory Ascites due to Hepatic Venous Outflow Obstruction in Polycystic Liver Disease. 61
31005489 2019
49
Preserving the organ donor pool and suprahepatic vena cava: Case series of transverse hepatectomy for polycystic liver disease. 61
31543466 2019
50
Further Evidence That Lanreotide Reduces Liver Growth in Patients With Polycystic Liver Disease, But Not the End of the Story. 61
31260661 2019

Variations for Polycystic Liver Disease

ClinVar genetic disease variations for Polycystic Liver Disease:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GANAB NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter)SNV Pathogenic 590352 rs1210158408 11:62393841-62393841 11:62626369-62626369
2 GANAB NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)SNV Pathogenic 590351 rs1565088616 11:62394111-62394111 11:62626639-62626639
3 GANAB NM_198334.3(GANAB):c.1936+1G>CSNV Pathogenic 590350 rs1565092899 11:62396665-62396665 11:62629193-62629193
4 GANAB NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro)SNV Pathogenic 590349 rs1465649718 11:62397125-62397125 11:62629653-62629653
5 GANAB NM_198334.3(GANAB):c.621del (p.Asp207fs)deletion Pathogenic 590348 rs1565099895 11:62400926-62400926 11:62633454-62633454
6 PKHD1 NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)SNV Pathogenic 4108 rs137852944 6:51947999-51947999 6:52083201-52083201
7 PKHD1 NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)SNV Pathogenic 4114 rs137852949 6:51923147-51923147 6:52058349-52058349
8 PKHD1 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)SNV Pathogenic 198314 rs781368899 6:51524705-51524705 6:51659907-51659907
9 PKHD1 NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter)SNV Likely pathogenic 684633 6:51613206-51613206 6:51748408-51748408
10 PKHD1 NM_138694.4(PKHD1):c.820dup (p.Arg274fs)duplication Likely pathogenic 684635 6:51930833-51930834 6:52066035-52066036
11 PKHD1 NM_138694.4(PKHD1):c.880+1G>CSNV Likely pathogenic 684634 6:51930773-51930773 6:52065975-52065975
12 GANAB NM_198334.3(GANAB):c.38G>A (p.Arg13Gln)SNV Likely pathogenic 590357 rs1565116806 11:62414034-62414034 11:62646562-62646562
13 GANAB NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys)SNV Likely pathogenic 590353 rs1565093675 11:62397108-62397108 11:62629636-62629636
14 GANAB NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly)SNV Likely pathogenic 590354 rs1565092566 11:62396481-62396481 11:62629009-62629009
15 PKHD1 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)deletion Conflicting interpretations of pathogenicity 188746 rs746972457 6:51890842-51890842 6:52026044-52026044
16 ALG9 NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)SNV Uncertain significance 96135 rs36111204 11:111728332-111728332 11:111857609-111857609
17 PKHD1 NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)SNV Uncertain significance 631985 rs201812542 6:51483962-51483962 6:51619164-51619164
18 ALG9 NM_024740.2(ALG9):c.1550G>T (p.Arg517Leu)SNV Benign 638634 11:111706940-111706940 11:111836217-111836217
19 ALG9 NM_024740.2(ALG9):c.944A>G (p.Asn315Ser)SNV Benign 638633 11:111715398-111715398 11:111844675-111844675
20 ALG9 NM_024740.2(ALG9):c.839C>T (p.Ala280Val)SNV Benign 638635 11:111724159-111724159 11:111853436-111853436

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

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

# Super pathways Score Top Affiliating Genes
1 11.24 SEC63 SEC61B PRKCSH GANAB DNAJB11
2
Show member pathways
11.14 GANAB ALG9 ALG8

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 extracellular exosome GO:0070062 9.97 PKHD1 PKD2 PKD1 MIR15A GGT1 GANAB
2 endoplasmic reticulum lumen GO:0005788 9.65 PRKCSH GANAB FBN1 DNAJB11 ALB
3 endoplasmic reticulum GO:0005783 9.36 SEC63 SEC61B PRKCSH PKD2 PKD1 LRP5
4 cation channel complex GO:0034703 9.32 PKD2 PKD1
5 glucosidase II complex GO:0017177 9.16 PRKCSH GANAB
6 polycystin complex GO:0002133 8.96 PKD2 PKD1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.78 PKD2 PKD1 NXN LRP5
2 mannosylation GO:0097502 9.57 ALG9 ALG8
3 N-glycan processing GO:0006491 9.56 PRKCSH GANAB
4 kidney development GO:0001822 9.56 PKHD1 PKD2 PKD1 FBN1
5 protein heterotetramerization GO:0051290 9.55 PKD2 PKD1
6 placenta blood vessel development GO:0060674 9.54 PKD2 PKD1
7 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.52 ALG9 ALG8
8 detection of mechanical stimulus GO:0050982 9.51 PKD2 PKD1
9 cytoplasmic sequestering of transcription factor GO:0042994 9.49 PKD2 PKD1
10 hyperosmotic response GO:0006972 9.46 SST AQP1
11 mesonephric tubule development GO:0072164 9.43 PKD2 PKD1
12 posttranslational protein targeting to membrane, translocation GO:0031204 9.4 SEC63 SEC61B
13 mesonephric duct development GO:0072177 9.37 PKD2 PKD1
14 metanephric ascending thin limb development GO:0072218 9.32 PKD2 PKD1
15 liver development GO:0001889 9.26 SEC63 PRKCSH PKD2 PKD1
16 cell-cell signaling by wnt GO:0198738 9.16 PKD2 PKD1
17 nitrogen compound metabolic process GO:0006807 8.8 SEC63 PRKCSH PKD1

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

# Name GO ID Score Top Affiliating Genes
1 Wnt-activated receptor activity GO:0042813 8.62 PKD1 LRP5

Sources for Polycystic Liver Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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