PCLD1
MCID: PLY023
MIFTS: 56

Polycystic Liver Disease (PCLD1) malady

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

Aliases & Classifications for Polycystic Liver Disease

Aliases & Descriptions for Polycystic Liver Disease:

Name: Polycystic Liver Disease 54 12 50 24 13 52 14 69
Isolated Polycystic Liver Disease 50 56 66
Pcld 50 24 56
Isolated Autosomal Dominant Polycystic Liver Disease 50
Autosomal Dominant Polycystic Liver Disease 56
Polycystic Liver Disease 1 66
Adpcld 56
Pcld1 66
Cysts 42
Cyst 69

Characteristics:

Orphanet epidemiological data:

56
isolated polycystic liver disease
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

HPO:

32
polycystic liver disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare hepatic diseases


External Ids:

OMIM 54 174050
Disease Ontology 12 DOID:0050770
Orphanet 56 ORPHA2924
ICD10 via Orphanet 34 Q44.6
UMLS via Orphanet 70 C0158683
MESH via Orphanet 43 C536330
MedGen 40 C0158683
ICD10 33 K09.9

Summaries for Polycystic Liver Disease

NIH Rare Diseases : 50 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 arachnoid cysts and ovarian cyst, and has symptoms including back pain, abdominal pain and respiratory insufficiency. An important gene associated with Polycystic Liver Disease is PRKCSH (Protein Kinase C Substrate 80K-H). The drugs Polidocanol and Etomidate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and pancreas, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and cellular

UniProtKB/Swiss-Prot : 66 Polycystic liver disease 1: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.

Wikipedia : 71 Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout... more...

Description from OMIM: 174050

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 132)
id Related Disease Score Top Affiliating Genes
1 arachnoid cysts 12.3
2 ovarian cyst 12.3
3 megalencephalic leukoencephalopathy with subcortical cysts 12.2
4 tarlov cysts 12.2
5 choledochal cyst 12.2
6 dermoid cyst 12.2
7 breast cyst 12.2
8 aneurysmal bone cysts 12.1
9 corpus luteum cyst 12.1
10 bartholin's duct cyst 12.1
11 renal cysts and diabetes syndrome 12.1
12 cerebroretinal microangiopathy with calcifications and cysts 12.1
13 spinal intradural arachnoid cysts 12.1
14 urachal cyst 12.0
15 bronchogenic cyst 12.0
16 proliferating trichilemmal cyst 12.0
17 intracranial cysts 12.0
18 sacral nerve root cysts 12.0
19 pineal cyst 12.0
20 thyroglossal duct cyst, familial 12.0
21 meibomian cyst 12.0
22 parovarian cyst 11.9
23 choroid plexus cyst 11.9
24 megalencephalic leukoencephalopathy with subcortical cysts 2a 11.9
25 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 11.9
26 solitary bone cyst 11.9
27 trichilemmal cyst 1 11.9
28 congenital pancreatic cyst 11.9
29 colloid cysts of third ventricle 11.9
30 nasolacrimal duct cyst 11.9
31 bile duct cysts 11.8
32 orbital cyst 11.8
33 cerebroretinal microangiopathy with calcifications and cysts 2 11.8
34 prostatic cyst 11.8
35 steatocystoma multiplex 11.8
36 branchial cleft anomalies branchial cysts, included 11.8
37 neonatal ovarian cyst 11.8
38 malignant ovarian cyst 11.8
39 pachygyria with mental retardation, seizures, and arachnoid cysts 11.8
40 multiloculated renal cyst 11.7
41 cystic kidney disease 11.7
42 solitary cyst of breast 11.7
43 neurenteric cyst 11.7
44 omphalomesenteric cyst 11.7
45 cervical dermoid cyst 11.7
46 retrocerebellar cyst 11.7
47 esophageal duplication cyst 11.7
48 gastric duplication cysts 11.7
49 non-congenital cyst of kidney 11.7
50 congenital laryngeal cyst 11.7

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



Diseases related to Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Liver Disease

Symptoms by clinical synopsis from OMIM:

174050

Clinical features from OMIM:

174050

Human phenotypes related to Polycystic Liver Disease:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 back pain 56 32 Occasional (29-5%) HP:0003418
2 abdominal pain 56 32 Occasional (29-5%) HP:0002027
3 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
4 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
5 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
6 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
7 abnormality of the pancreas 56 32 Occasional (29-5%) HP:0001732
8 multiple renal cysts 56 32 Frequent (79-30%) HP:0005562
9 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
10 abdominal distention 56 32 Very frequent (99-80%) HP:0003270
11 aneurysm 56 32 Occasional (29-5%) HP:0002617
12 increased total bilirubin 56 32 Occasional (29-5%) HP:0003573
13 polycystic liver disease 56 32 Very frequent (99-80%) HP:0006557
14 abnormality of the cardiovascular system 32 HP:0001626
15 ascites 32 HP:0001541
16 abnormality of the nervous system 32 HP:0000707
17 abnormality of the respiratory system 56 Occasional (29-5%)
18 renal cyst 32 HP:0000107
19 elevated alkaline phosphatase 32 HP:0003155

UMLS symptoms related to Polycystic Liver Disease:


hepatosplenomegaly

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.6 PRKD1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.6 CEACAM3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.6 HNF1B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 CEACAM3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.6 HNF1B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.6 CEACAM3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.6 HNF1B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.6 HNF1B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.6 PRKD1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.6 HNF1B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.6 PRKD1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.6 KRT7
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.6 KRT7
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.6 PRKD1 CEACAM3 HNF1B KRT7
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.6 HNF1B
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.6 KRT7

MGI Mouse Phenotypes related to Polycystic Liver Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ALB FLCN KRT17 KRT7 LRP5 NPHP1
2 growth/size/body region MP:0005378 10.06 HNF1B KRT17 LRP5 MLC1 NXN PKD1
3 homeostasis/metabolism MP:0005376 10.03 ALB FLCN GGT1 HNF1B KRT7 LRP5
4 liver/biliary system MP:0005370 9.81 LRP5 PKD1 PKD2 PKHD1 PRKCSH SEC63
5 mortality/aging MP:0010768 9.77 PKD2 PKHD1 PRKCSH PRKD1 SEC63 ALB
6 renal/urinary system MP:0005367 9.4 ALB FLCN GGT1 HNF1B KRT7 NPHP1

Drugs & Therapeutics for Polycystic Liver Disease

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

(show top 50) (show all 553)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polidocanol Approved Phase 4 9002-92-0
2
Etomidate Approved Phase 4 33125-97-2 36339 667484
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
4
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Ranibizumab Approved Phase 4,Phase 3,Phase 1,Phase 2 347396-82-1 459903
7
Cyproterone Acetate Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1 427-51-0
8
Drospirenone Approved Phase 4,Phase 3,Phase 1 67392-87-4 68873
9
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757 53477783
10
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-63-6 5991
11
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
12
Ganirelix Approved Phase 4,Early Phase 1 123246-29-7, 124904-93-4 25081094
13
Orlistat Approved, Investigational Phase 4,Phase 2 96829-58-2 3034010
14
Letrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 112809-51-5 3902
15
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
17
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
18
Ropivacaine Approved Phase 4,Phase 3,Phase 2 84057-95-4 71273 175805
19
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1 57-83-0 5994
20
Bevacizumab Approved, Investigational Phase 4,Phase 1,Phase 2 216974-75-3
21
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
22
Pioglitazone Approved, Investigational Phase 4,Phase 2,Early Phase 1 111025-46-8 4829
23
Zinc Approved Phase 4,Early Phase 1 7440-66-6 32051 23994
24
Levonorgestrel Approved, Investigational Phase 4,Phase 2 797-63-7, 17489-40-6 13109
25
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-18-4 6010
26
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
27
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
28
Norgestimate Approved Phase 4 35189-28-7 6540478
29
Danazol Approved Phase 4 17230-88-5 28417
30
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
31
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
32
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 3 564-25-0 54671203
33
Buserelin Approved Phase 4,Phase 3 57982-77-1
34
Cetrorelix Approved, Investigational Phase 4,Phase 3 120287-85-6 16129715 25074887
35
Menotropins Approved Phase 4,Phase 1,Phase 2 61489-71-2 5360545
36
Magnesium Sulfate Approved, Vet_approved Phase 4 7487-88-9 24083
37
Liraglutide Approved Phase 4 204656-20-2
38
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3 616-91-1 12035
39
Citalopram Approved Phase 4 59729-33-8 2771
40
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2 51-43-4 5816
41 Moxonidine Approved Phase 4 75438-57-2 4810
42
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
43
Alogliptin Approved Phase 4 850649-61-5 11450633
44
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
45
Leuprolide Approved, Investigational Phase 4,Phase 2 53714-56-0 3911 657181
46
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 1,Phase 2 9004-61-9 53477741 24759
47
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
48
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
49
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
50 Dienogest Approved Phase 4,Phase 3 65928-58-7

Interventional clinical trials:

(show top 50) (show all 898)
id Name Status NCT ID Phase
1 The Treatment of Bartholin´s Cyst or Abscess With Silver Nitrate Unknown status NCT00786461 Phase 4
2 The Impact on Ovarian Reserve After Single-port, Two-port, or Four-port Access Laparoscopic Ovarian Cyst Enucleation Unknown status NCT01631253 Phase 4
3 An Assessment of Intra-lesional 3% Polidocanol Solution in the Treatment of Digital Myxoid Cyst Unknown status NCT02154789 Phase 4
4 Effects of Etomidate on Postoperative Circadian Rhythm Changes of Salivary Cortisol in Children Unknown status NCT02013986 Phase 4
5 Prospective Random Comparing Study on EUS-guided Pseudocyst Drainage by Naso-pancreatic Tube and Stents Unknown status NCT01585662 Phase 4
6 Pilonidal Disease Wound Healing Study Unknown status NCT01857128 Phase 4
7 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4
8 Multi-center Clinical Trials of Sanjie Analgesic Capsule in Treating Endometriosis Unknown status NCT02031523 Phase 4
9 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4
10 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
11 the Effect of Diane-35 Pretreatment on In-vitro Fertilization Outcome for Patients With Polycystic Ovary Syndrome Unknown status NCT01752270 Phase 4
12 Therapeutic Monitoring of Metformin in Women With Polycystic Ovary Syndrome Unknown status NCT01366391 Phase 4
13 Comparison Between GnRH Agonist and GnRH Antagonist Protocols of Ovarian Stimulation in PCOS Patients Unknown status NCT00417144 Phase 4
14 Surgical Ovarian Drilling Versus Hormonal Treatment for Infertility Associated to PolyCystic Ovaries Syndrome (PCOS) Unknown status NCT00378729 Phase 4
15 Metformin and Gestational Diabetes in High-risk Patients: a RCTs Unknown status NCT00883259 Phase 4
16 Endometrial Scratching During Laproscopic Ovarian Drilling in Subfertile PCOS Women Unknown status NCT02140398 Phase 4
17 Strategies for Ovulation Induction in Anovulatory Infertile Patients With PCOS Unknown status NCT00461643 Phase 4
18 The Effect of Weight Loss on Anti-Müllerian Hormone Levels in Women With Polycystic Ovary Syndrome (PCOS) Unknown status NCT01475019 Phase 4
19 Comparison of Excision Versus Punch Incision in the Treatment of Epidermal Cysts Completed NCT00165958 Phase 4
20 The Impact of Electrocoagulation on Ovarian Reserve After Laparoscopic Excision of Ovarian Cyst Completed NCT00713778 Phase 4
21 A Random Clinical Trial (RCT) of the Impact of Electrocoagulation on Ovarian Reserve Completed NCT00746278 Phase 4
22 Karydakis Procedure Versus Excision With Healing by Secondary Intention (EHSI) in Sacrococcygeal Pilonidal Sinus Completed NCT00716937 Phase 4
23 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4
24 The Role of Estrogen in Luteinizing Hormone Surge and Ovulation Completed NCT01999569 Phase 4
25 Danazol Treatment in Endometriosis Women Before IVF Completed NCT01779232 Phase 4
26 Pain Post Abdominal Laparoscopy Prevention With Arcoxia Completed NCT00565682 Phase 4
27 BOSS Study: A Study of Fuzeon Using the Needle-Free Biojector 2000 in Patients With HIV-1 Infection Completed NCT00337701 Phase 4
28 WAND Study - A Study to Evaluate Fuzeon (Enfuvirtide) Administered by a Needle-Free Injection Device in Patients With HIV. Completed NCT00233883 Phase 4
29 Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00414440 Phase 4
30 FSH/LH Ratio as a Predictor of IVF Outcome in Young and Older Women Completed NCT02674178 Phase 4
31 Role of Myo-inositol and D-chiro Inositol on the Ovaric and Metabolic Functions Completed NCT01626443 Phase 4
32 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4
33 Clinical Evaluation of Furocyst in Patients With Poly Cystic Ovary Syndrome Completed NCT02789488 Phase 4
34 Sleep Quality After Stellate-ganglion Block of Patients Undergoing Breast Cancer Operation Completed NCT02651519 Phase 4
35 Preimplantation Genetic Diagnosis (PGD) With Gonadotropin-releasing Hormone (GnRH) Agonist Versus Antagonist Completed NCT01888744 Phase 4
36 Effect of Stellate Ganglion Block on Meniere's Disease Completed NCT01574313 Phase 4
37 A Study for Lymphocele and Lymphorrhea Control Following Inguinal and Axillary Radical Lymph Node Dissection Completed NCT02476357 Phase 4
38 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4
39 Neuroprotection by Magnesium Sulfate Given to Women at Risk of Very Preterm Birth Completed NCT00120588 Phase 4
40 Luteal Phase FSH in the IVF Poor Responder Completed NCT00225433 Phase 4
41 Sitagliptin Improved Beta Cell Function and Prevented a Conversion Rate to Impaired Glucose Tolerance and Type 2 Diabetes in Metformin Intolerant Obese Women With Polycystic Ovary Syndrome Completed NCT03122041 Phase 4
42 Weight Maintenance With Dipeptidyl Peptidase 4 (DPP4) Inhibitor Sitagliptin in Combination With Metformin After Liragludite Induced Weight Loss Completed NCT02941445 Phase 4
43 The Effect of Metformin on Different Hormones in PCOS Patients Completed NCT02568488 Phase 4
44 Liraglutide as Add on Therapy on Metformin in Women With Polycystic Ovary Syndrome Completed NCT02483299 Phase 4
45 Phytoestrogens as an Alternative to Estradiol in Ovulation Induction in PCOS Completed NCT02352597 Phase 4
46 PDE-4 Inhibitor Roflumilast and GLP-1 Agonist Liraglutide in Polycystic Ovary Syndrome Completed NCT02187250 Phase 4
47 PDE-4 Inhibitor Roflumilast and Polycystic Ovary Syndrome Completed NCT02037672 Phase 4
48 Polycystic Ovary Syndrome and Liraglutide as Add-on Therapy on Metformin Completed NCT01911468 Phase 4
49 Polycystic Ovary Syndrome and Liraglutide Completed NCT01899430 Phase 4
50 Medical Nutrition Therapy Plus Transgestational Metformin For Preventing Gestational Diabetes In High Risk Mexican Women Completed NCT01675310 Phase 4

Search NIH Clinical Center for Polycystic Liver Disease

Cochrane evidence based reviews: cysts

Genetic Tests for Polycystic Liver Disease

Genetic tests related to Polycystic Liver Disease:

id Genetic test Affiliating Genes
1 Polycystic Liver Disease 24 SEC63 PRKCSH LRP5

Anatomical Context for Polycystic Liver Disease

MalaCards organs/tissues related to Polycystic Liver Disease:

39
Liver, Kidney, Pancreas, Breast

Publications for Polycystic Liver Disease

Articles related to Polycystic Liver Disease:

(show top 50) (show all 269)
id Title Authors Year
1
An update on the pathophysiology and management of polycystic liver disease. ( 28317394 )
2017
2
Liver Transplantation for Polycystic Liver Disease Due to Huge Liver With Related Complications: A Case Report. ( 28340841 )
2017
3
Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies of Portal Hypertension. ( 28280650 )
2017
4
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28375157 )
2017
5
Hepatobiliary and Pancreatic: A unique case of HPV related metastatic Schneiderian carcinoma presenting as polycystic liver disease. ( 28052462 )
2017
6
Center is an important indicator for choice of invasive therapy in polycystic liver disease. ( 27732751 )
2017
7
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
8
Adult polycystic liver disease concomitant with severe anemia due to intracystic bleeding is indicated to liver transplantation: case report and review of literature. ( 26945526 )
2016
9
Outcomes and Durability of Hepatic Reduction after Combined Partial Hepatectomy and Cyst Fenestration for Massive Polycystic Liver Disease. ( 27016902 )
2016
10
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. ( 27552964 )
2016
11
Risk factors for progressive polycystic liver disease: where do we stand? ( 26681732 )
2016
12
Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. ( 26970415 )
2016
13
Polycystic Liver Disease: The Benefits of Targeting cAMP. ( 26972981 )
2016
14
Polycystic liver disease complicated by obstructive jaundice. ( 26718392 )
2016
15
Ursodeoxycholic acid in advanced polycystic liver disease: an international multicenter randomized controlled phase 2 trial: CURSOR: Controlled trial of URSOdeoxycholic acid to Reduce liver volume in polycystic liver disease. ( 27212247 )
2016
16
Transgastric removal of a polycystic liver disease using mini-laparoscopic excision. ( 28386465 )
2016
17
Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease. ( 26838488 )
2016
18
Isolated polycystic liver disease and aneurism: a case report. ( 27275480 )
2016
19
Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in polycystic liver disease. ( 27826057 )
2016
20
Monoethanolamine Oleate Sclerotherapy for Polycystic Liver Disease. ( 27750233 )
2016
21
Laparoscopic surgery and polycystic liver disease: Clinicopathological features and new trends in management. ( 27279400 )
2016
22
Medical therapy for polycystic liver disease. ( 26688394 )
2016
23
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016
24
Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes. ( 28018103 )
2016
25
Fatal liver cyst rupture in polycystic liver disease complicated with autosomal dominant polycystic kidney disease: A case report. ( 27050907 )
2016
26
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease. ( 27571215 )
2016
27
Polycystic liver disease with no renal involvement. ( 26320095 )
2015
28
Hepatic Intracystic Organizing Hematoma Mimicking Biliary Cystadenocarcinoma in a Patient with Polycystic Liver Disease. ( 26278291 )
2015
29
Hepatocellular Carcinoma in a Patient with Polycystic Liver Disease. ( 26234231 )
2015
30
Polycystic Liver Disease. ( 27118951 )
2015
31
Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene. ( 26365003 )
2015
32
Fenestration of liver cysts in polycystic liver disease to improve quality of life: a case report and literature review. ( 26155276 )
2015
33
Ultrasound-guided percutaneous drainage and sclerotherapy in a patient with isolated autosomal dominant polycystic liver disease. ( 25733043 )
2015
34
Reply to: "Development and validation of a polycystic liver disease complaint-specific assessment (POLCA) - Use of the Delphi technique for content validation". ( 25529625 )
2015
35
Ursodeoxycholic acid inhibits hepatic cystogenesis in experimental models of polycystic liver disease. ( 26044126 )
2015
36
Efficacy of 4 Years of Octreotide Long-Acting Release Therapy in Patients With Severe Polycystic Liver Disease. ( 26166166 )
2015
37
Somatostatin analogues improve health-related quality of life in polycystic liver disease: a pooled analysis of two randomised, placebo-controlled trials. ( 26129925 )
2015
38
Screening analysis of candidate gene mutations in a kindred with polycystic liver disease. ( 25741140 )
2015
39
Lanreotide Reduces Liver Volume, But Might Not Improve Muscle Wasting or Weight Loss, in Patients With Symptomatic Polycystic Liver Disease. ( 26073493 )
2015
40
Stroke after cyst fenestration in a patient with autosomal dominant polycystic kidney disease and polycystic liver disease: Not necessarily aneurysm-related. ( 25727369 )
2015
41
Comparison of volume-reductive therapies for massive polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26190457 )
2015
42
Laparoscopic deroofing for polycystic liver disease using laparoscopic fusion indocyanine green fluorescence imaging. ( 26416378 )
2015
43
Alkaline phosphatase predicts response in polycystic liver disease during somatostatin analogue therapy: a pooled analysis. ( 26481454 )
2015
44
Biliary duct hamartomas in polycystic liver disease. ( 26272967 )
2015
45
An Unusual Cause of a High Carbonhydrate Antigen 19-9 Level in an Elderly Individual: Polycystic Liver Disease. ( 26189862 )
2015
46
Development and validation of a polycystic liver disease complaint-specific assessment (POLCA) - Use of the Delphi technique for content validation. ( 25529621 )
2015
47
KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Polycystic Liver Disease. ( 26718168 )
2015
48
Management of symptomatic polycystic liver disease with hepatic resection. ( 25427319 )
2015
49
Therapeutic Targets In Polycystic Liver Disease. ( 25915482 )
2015
50
Feeding Soy Protein Isolate and n-3 PUFA Affects Polycystic Liver Disease Progression in a PCK Rat Model of Autosomal Polycystic Kidney Disease. ( 25822773 )
2015

Variations for Polycystic Liver Disease

ClinVar genetic disease variations for Polycystic Liver Disease:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKCSH PRKCSH, IVS16AS, A-G, -2 single nucleotide variant Pathogenic
2 PRKCSH PRKCSH, IVS4DS, G-C, +1 single nucleotide variant Pathogenic
3 PRKCSH PRKCSH, 2-BP DEL, IVS16GT, +1 deletion Pathogenic
4 PRKCSH NM_002743.3(PRKCSH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs121918519 GRCh37 Chromosome 19, 11559419: 11559419
5 PRKCSH NM_002743.3(PRKCSH): c.1269C> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs121918520 GRCh37 Chromosome 19, 11559732: 11559732
6 PRKCSH PRKCSH, 1-BP INS, 216A insertion Pathogenic
7 SEC63 NM_007214.4(SEC63): c.109delC (p.Arg37Glufs) deletion Pathogenic rs727504146 GRCh37 Chromosome 6, 108279105: 108279105
8 SEC63 NM_007214.4(SEC63): c.1605dupA (p.Pro536Thrfs) duplication Pathogenic rs797044656 GRCh37 Chromosome 6, 108214755: 108214755
9 PRKCSH NM_002743.3(PRKCSH): c.1460_1463delAAGA (p.Lys487Argfs) deletion Pathogenic rs794727187 GRCh37 Chromosome 19, 11560100: 11560103
10 SEC63 NM_007214.4(SEC63): c.452+1G> A single nucleotide variant Pathogenic rs869312977 GRCh37 Chromosome 6, 108243000: 108243000
11 SEC63 NM_007214.4(SEC63): c.220delG (p.Val74Terfs) deletion Pathogenic rs869312978 GRCh37 Chromosome 6, 108250623: 108250623

Expression for Polycystic Liver Disease

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

Pathways for Polycystic Liver Disease

GO Terms for Polycystic Liver Disease

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.87 ALB GANAB LRP5 MLC1 PKD2 PRKCSH
2 cell-cell junction GO:0005911 9.46 MLC1 NPHP1 PKD2 PRKD1
3 motile cilium GO:0031514 9.43 NPHP1 PKD1 PKD2
4 cilium GO:0005929 9.35 FLCN NPHP1 PKD1 PKD2 PKHD1
5 polycystin complex GO:0002133 8.62 PKD1 PKD2

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 single organismal cell-cell adhesion GO:0016337 9.7 NPHP1 PKD1 PKHD1
2 kidney development GO:0001822 9.67 HNF1B PKD1 PKD2 PKHD1
3 regulation of TOR signaling GO:0032006 9.51 FLCN PKHD1
4 nitrogen compound metabolic process GO:0006807 9.5 PKD1 PRKCSH SEC63
5 detection of mechanical stimulus GO:0050982 9.49 PKD1 PKD2
6 cytoplasmic sequestering of transcription factor GO:0042994 9.48 PKD1 PKD2
7 placenta blood vessel development GO:0060674 9.46 PKD1 PKD2
8 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.43 PKD1 PKD2
9 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
10 metanephric ascending thin limb development GO:0072218 9.4 PKD1 PKD2
11 liver development GO:0001889 9.35 HNF1B PKD1 PKD2 PRKCSH SEC63
12 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
13 renal system development GO:0072001 8.92 PKD1 PKD2 PRKCSH SEC63

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

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.33 PKD1 PKD2 PRKCSH
2 calcium channel activity GO:0005262 9.13 PKD1 PKD2 TRPV1
3 phosphoprotein binding GO:0051219 8.8 PKD2 PRKCSH TRPV1

Sources for Polycystic Liver Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....