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PCLD1
MCID: PLY169
MIFTS: 58

Polycystic Liver Disease 1 with or Without Kidney Cysts (PCLD1)

Categories: Genetic diseases, Liver diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Polycystic Liver Disease 1 with or Without Kidney Cysts

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MalaCards integrated aliases for Polycystic Liver Disease 1 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 1 with or Without Kidney Cysts 57 72
Polycystic Liver Disease 1 57 29 6
Pcld1 57 72
Liver Disease, Polycystic, Type 1 39
Polycystic Liver Disease 70
Cysts 44
Cyst 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
kidney cysts are usually incidental findings and do not cause significant renal diseaes

Inheritance:
autosomal dominant


HPO:

31
polycystic liver disease 1 with or without kidney cysts:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases Liver diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 174050
OMIM Phenotypic Series 57 PS174050
UMLS 70 C0010709 C0158683
Sources

Summaries for Polycystic Liver Disease 1 with or Without Kidney Cysts

About this section
OMIM® : 57 Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). (174050) (Updated 05-Apr-2021)

MalaCards based summary : Polycystic Liver Disease 1 with or Without Kidney Cysts, also known as polycystic liver disease 1, is related to birt-hogg-dube syndrome and autosomal dominant tubulointerstitial kidney disease, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease 1 with or Without Kidney Cysts is PRKCSH (Protein Kinase C Substrate 80K-H), and among its related pathways/superpathways is Cytoskeletal Signaling. The drugs Menotropins and silver nitrate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and bone, and related phenotypes are elevated alkaline phosphatase and abnormality of the cardiovascular system

UniProtKB/Swiss-Prot : 72 Polycystic liver disease 1 with or without kidney cysts: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.

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Related Diseases for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Diseases in the Polycystic Liver Disease 1 with or Without Kidney Cysts family:

Polycystic Liver Disease 2 with or Without Kidney Cysts Polycystic Liver Disease 3 with or Without Kidney Cysts
Polycystic Liver Disease 4 with or Without Kidney Cysts

Diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2032)
# Related Disease Score Top Affiliating Genes
1 birt-hogg-dube syndrome 32.0 PTCH1 KRT7 FLCN
2 autosomal dominant tubulointerstitial kidney disease 31.8 MUC1 HNF1B
3 multicystic dysplastic kidney 31.8 PKD2 PKD1
4 tubulointerstitial kidney disease, autosomal dominant, 1 31.7 NPHP1 MUC1 HNF1B
5 polycystic liver disease 31.6 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
6 polycystic kidney disease 31.6 TSC1 PRKCSH PKHD1 PKD2 PKD1 HNF1B
7 polycystic kidney disease 2 with or without polycystic liver disease 31.6 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
8 nephronophthisis-like nephropathy 1 31.5 SEC63 PRKCSH NPHP1
9 meckel syndrome, type 1 31.4 PTCH1 PKHD1 PKD2 PKD1 NPHP1
10 nephronophthisis 31.4 PKHD1 PKD2 PKD1 NPHP1 MUC1 HNF1B
11 nephronophthisis 2 31.4 PKHD1 PKD2 PKD1 NPHP1
12 papillary cystadenocarcinoma 31.3 MUC16 KRT7
13 ovarian serous cystadenofibroma 31.3 MUC1 KRT7 CALB2
14 cystic kidney disease 31.3 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
15 ovarian cystadenocarcinoma 31.3 MUC16 MUC1 CALB2
16 autosomal dominant polycystic kidney disease 31.2 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
17 polycystic kidney disease 4 with or without polycystic liver disease 31.2 SEC63 PRKCSH PKHD1 PKD2 PKD1 NPHP1
18 benign teratoma 31.0 PTCH1 MUC1 KRT7 CALB2
19 teratoma 31.0 KRT7 CALB2 ACTC1
20 caroli disease 30.9 SEC63 PRKCSH PKHD1 PKD2 PKD1 NPHP1
21 polycystic kidney disease 1 with or without polycystic liver disease 30.8 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
22 pneumothorax 30.7 TSC1 MUC1 FLCN FBN1 CALB2
23 liver disease 30.6 SEC63 PRKCSH PKHD1 PKD2 PKD1
24 cystadenoma 30.6 MUC16 MUC1 KRT7 CEACAM3 CALB2
25 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.5 TSC1 FLCN
26 congenital hepatic fibrosis 30.5 PKHD1 PKD1
27 papillary carcinoma 30.4 MUC1 KRT7 CALB2
28 spindle cell sarcoma 30.4 MUC1 KRT7 ACTC1
29 hydrocele 30.4 PKD2 KRT7 CALB2
30 hemangioma 30.3 TSC1 PKD1 MUC1 KRT7 ACTC1
31 angiomyolipoma 30.2 TSC1 KRT7 FLCN ACTC1
32 renal cell carcinoma, nonpapillary 30.2 TSC1 MUC1 KRT7 HNF1B FLCN CALB2
33 cystadenocarcinoma 30.1 MUC16 MUC1 KRT7 CEACAM3 ACTC1
34 ovarian germ cell teratoma 30.1 KRT7 CALB2
35 angiosarcoma 30.1 MUC1 KRT7 CALB2
36 kidney disease 30.0 TSC1 PKHD1 PKD2 PKD1 NPHP1 MUC1
37 bile duct cystadenocarcinoma 30.0 MUC1 KRT7
38 papillary adenocarcinoma 30.0 MUC16 MUC1 KRT7 CEACAM3
39 endosalpingiosis 30.0 MUC1 KRT7 CALB2
40 epithelioid sarcoma 30.0 MUC1 KRT7 CALB2
41 neurilemmoma 30.0 MUC1 CALB2 ACTC1
42 oncocytoma 30.0 MUC1 KRT7 FLCN
43 pseudomyxoma peritonei 29.9 MUC16 MUC1 KRT7
44 spindle cell thymoma 29.9 MUC1 CALB2
45 mucinous adenocarcinoma 29.9 MUC16 MUC1 KRT7
46 chronic kidney disease 29.8 PKD2 PKD1 NPHP1 HNF1B ENPP1
47 ovarian clear cell carcinoma 29.8 MUC16 KRT7 HNF1B
48 cystadenofibroma 29.7 MUC16 MUC1 KRT7 CALB2
49 chordoma 29.7 MUC1 KRT7 CEACAM3
50 apocrine adenocarcinoma 29.7 MUC1 KRT7 CEACAM3

Graphical network of the top 20 diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts:



Diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts
Sources

Symptoms & Phenotypes for Polycystic Liver Disease 1 with or Without Kidney Cysts

About this section

Human phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 elevated alkaline phosphatase 31 occasional (7.5%) HP:0003155
2 abnormality of the cardiovascular system 31 HP:0001626
3 ascites 31 HP:0001541
4 back pain 31 HP:0003418
5 dyspnea 31 HP:0002094
6 abnormality of the nervous system 31 HP:0000707
7 renal cyst 31 HP:0000107
8 abdominal distention 31 HP:0003270
9 increased total bilirubin 31 HP:0003573
10 polycystic liver disease 31 HP:0006557

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
usually asymptomatic
abdominal distention due to mass effect of liver
multiple fluid-filled cysts throughout the liver
cysts of biliary epithelial origin
rare hemorrhage from cysts
more
Respiratory:
dyspnea due to mass effect of liver

Genitourinary Kidneys:
renal cysts, few (in some patients)

Neurologic Central Nervous System:
absence of cerebral aneurysms

Cardiovascular Vascular:
rare compression of inferior vena cava (secondary lower extremity edema)

Abdomen Gastrointestinal:
early satiety due to mass effect of liver

Skeletal Spine:
back pain due to mass effect of liver

Laboratory Abnormalities:
slightly increased serum alkaline phosphatase may occur
increased total bilirubin may occur
lower total cholesterol
lower triglycerides

Clinical features from OMIM®:

174050 (Updated 05-Apr-2021)

UMLS symptoms related to Polycystic Liver Disease 1 with or Without Kidney Cysts:


hepatosplenomegaly

GenomeRNAi Phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.62 TSC1
2 Decreased cell migration GR00055-A-3 8.62 PKD1

MGI Mouse Phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 ACTC1 ENPP1 FBN1 FLCN HNF1B KRT17
2 homeostasis/metabolism MP:0005376 10.07 ACTC1 ENPP1 FBN1 FLCN HNF1B KRT7
3 mortality/aging MP:0010768 9.77 ACTC1 ENPP1 FBN1 FLCN HNF1B KRT17
4 liver/biliary system MP:0005370 9.76 ENPP1 HNF1B PKD1 PKD2 PKHD1 PRKCSH
5 renal/urinary system MP:0005367 9.44 ENPP1 FBN1 FLCN HNF1B KRT7 NPHP1
Sources

Drugs & Therapeutics for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Drugs for Polycystic Liver Disease 1 with or Without Kidney Cysts (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 282)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
2
silver nitrate Approved, Investigational Phase 4 7761-88-8
3
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
6
Polyestradiol phosphate Approved Phase 4 28014-46-2
7
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
8
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
9
Polidocanol Approved Phase 4 9002-92-0
10
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
11
Dienogest Approved Phase 4 65928-58-7
12
Norgestrel Approved Phase 4 6533-00-2 13109
13
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
14
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
15
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
16
Etomidate Approved Phase 4 33125-97-2 36339 667484
17
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
18
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
19
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
20
Danazol Approved Phase 4 17230-88-5 28417
21
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
22
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
23
Diphenidol Approved, Investigational, Withdrawn Phase 4 972-02-1 3055
24
Tocopherol Approved, Investigational Phase 4 1406-66-2
25
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
26
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
27
Acetaminophen Approved Phase 4 103-90-2 1983
28
Ibuprofen Approved Phase 4 15687-27-1 3672
29
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
30
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
31
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
32
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
34
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
35 Tocotrienol Investigational Phase 4 6829-55-6
36 Triptorelin Pamoate Phase 4
37 Excitatory Amino Acid Antagonists Phase 4
38 Contraceptive Agents, Male Phase 4
39 Estradiol 17 beta-cypionate Phase 4
40 Estradiol 3-benzoate Phase 4
41 Sclerosing Solutions Phase 4
42 Ethinyl estradiol, levonorgestrel drug combination Phase 4
43 Contraceptives, Postcoital Phase 4
44 Ethinyl Estradiol-Norgestrel Combination Phase 4
45 Hydrocortisone hemisuccinate Phase 4
46 Hydrocortisone 17-butyrate 21-propionate Phase 4
47 Hypnotics and Sedatives Phase 4
48 GABA Modulators Phase 4
49 Anesthetics, Intravenous Phase 4
50 Cytochrome P-450 Enzyme Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 352)
# Name Status NCT ID Phase Drugs
1 Trans-vaginal Aspiration With or Without Injection of Surgicel for Treatment of Small Ovarian Endometrioma Before ICSI Cycles. A Randomized Controlled Trial Unknown status NCT03784404 Phase 4 Intracytoplasmic sperm injection
2 The Treatment of Bartholin´s Cyst or Abscess With Silver Nitrate Unknown status NCT00786461 Phase 4
3 A Randomized Controlled Trial to Compare the Efficacy of Medicine Conservative Treatment and Surgical Treatment for Symptomatic Sacral Perineurial Cysts (Tarlov Cysts) and the Applied Value of Resting State Functional Magnetic Resonance Imaging (rfMRI). Unknown status NCT02595190 Phase 4 gabapentin + tramadol
4 The Impact on Ovarian Reserve After Single-port, Two-port, or Four-port Access Laparoscopic Ovarian Cyst Enucleation Unknown status NCT01631253 Phase 4
5 An Assessment of Intra-lesional 3% Polidocanol Solution in the Treatment of Digital Myxoid Cysts Unknown status NCT02154789 Phase 4 polidocanol
6 Effect of Biphasic Bone Graft Material (BGM) in Combination With Autologous Platelet-rich Fibrin (PRF) on Bone Regeneration in an Odontogenic Maxillary Cyst: a Randomized Clinical Trial Unknown status NCT03003013 Phase 4
7 A Prospective, Randomized Controlled Trial Comparing the Use of Dienogest and Combined Oral Contraceptive Pills (Microgynon) to Reduce the Risk of Recurrence of Endometriotic Cyst After Conservative Surgery Unknown status NCT02385448 Phase 4 Dienogest;Microgynon
8 Comparative Study Between ICSI Results in Transvaginal Ultrasound Guided Embryo Transfer and Transabdominal Ultrasound Guided Embryo Transfer Unknown status NCT03683043 Phase 4 Long GnRH agonist protocol
9 Phase 1 Study of Circadian Rhythm of Salivary Cortisol in Health Children ;Phase 2 Study of Circadian Rhythm of Salivary Cortisol of Children Undergoing Surgery Using Etomidate or Not Using Etomidate. Unknown status NCT02013986 Phase 4 etomidate;midazolam;propofol
10 Multicenter, Randomized and Double-blinded Clinical Trial on the Use of Antibiotic Prophylaxis for EUS Guided FNA of Pancreatic Cystic Lesions Completed NCT02261896 Phase 4 Placebo;Ciprofloxacin
11 Comparison of Excision Versus Punch Incision in the Treatment of Epidermal Cysts Completed NCT00165958 Phase 4
12 Recurrence, Complications, Work-off Date, Healing Time and Patients Willingness in Karydakis Technique for Treatment of Sacrococcygeal Pilonidal Sinus Versus Excision With Healing by Secondary Intention (EHSI)Technique Completed NCT00716937 Phase 4
13 A Random Clinical Trial of the Impact of Electrocoagulation on Ovarian Reserve After Laparoscopic Excision of Ovarian Cyst Completed NCT00746278 Phase 4
14 The Impact of Electrocoagulation on Ovarian Reserve After Laparoscopic Exc Completed NCT00713778 Phase 4
15 The Use of Local Anesthetic in Intralesional Corticosteroid Injections; A Randomized, Double Blind Controlled Trial Completed NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
16 Efficacy and Safety of Furocyst in Patients With Poly Cystic Ovary Syndrome Completed NCT02789488 Phase 4
17 Treatment With Danazol Before Controlled Ovarian Hyperstimulation in Women With Endometriosis Undergoing IVF Completed NCT01779232 Phase 4 Danazol;placebo
18 Pain Post Abdominal Laparoscopy Prevention With Arcoxia Completed NCT00565682 Phase 4 etoricoxib 120 mg
19 Sleep Quality After Stellate-ganglion Block of Patients Undergoing Breast Cancer Operation Completed NCT02651519 Phase 4 0.25% ropivacaine hydrochloride;saline
20 Effect of Stellate Ganglion Block on Meniere's Disease Completed NCT01574313 Phase 4 0.25mg, fludiazine;25mg cephadol@ (diphenidol);200mg kentons@ (tocopherol nicotinate).
21 Comparison of the Analgesic Effect of Levobupivacaine 0.5% Via Interscalene Nerve Block or Via Interscalene Nerve Block Combined With a Stellate Ganglion Block in Patients Undergoing Shoulder Arthroscopy With General Anaesthesia Completed NCT02879916 Phase 4 Levobupivacaine;NaCl 0.9%
22 The Role of Estrogen in Luteinizing Hormone Surge and Ovulation Completed NCT01999569 Phase 4 Letrozole
23 Interest in the Use of Dressings With Honey for Wound Healing After Excision of Pilonidal Cyst Recruiting NCT02485860 Phase 4
24 Sphenopalatine Ganglion Block With Adrenaline Additive for Post-Dural Puncture Headache in Orthopedic Patients: A Randomized Controlled Study Not yet recruiting NCT04657952 Phase 4 Medical Treatment
25 Stellate Ganglion Block for Major Depressive Disorder: A Randomized Controlled Pilot Trial Not yet recruiting NCT04727229 Phase 4 Bupivacaine Hydrochloride;Normal Saline
26 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery: A Randomized, Double Blind Comparison of Acetaminophen/Ibuprofen Versus Acetaminophen/Hydrocodone Terminated NCT02029235 Phase 4 Acetaminophen/Ibuprofen;Acetaminophen/Hydrocodone
27 Retinal Ganglion Cell Function After Repeated Intravitreous Ranibizumab in Diabetic Macular Edema Withdrawn NCT02055911 Phase 4 Ranibizumab
28 Long Term Outcomes After EUS-guided Ablation for Cystic Tumors of the Pancreas Unknown status NCT00689715 Phase 2, Phase 3
29 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
30 Are the Combined Oral Contraceptive Pills Needed for Management of the Simple Ovarian Cysts in Reproductive Women? (Randomized Controlled Study) Unknown status NCT03357640 Phase 2, Phase 3 combined oral contraceptive pills
31 An Open-label, Prospective Clinical Trial to Evaluate the Effectiveness and Safety of Sirolimus to Reduce Cyst Growth in ADPKD Patients With Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
32 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
33 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
34 An Open-labelled Multicenter Randomized Study on the Efficacy of Everolimus in Reducing Total Native Kidney Volume in Kidney Transplanted Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
35 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
36 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
37 EUS-Guided Pancreatic Injection of Cyst (EPIC) Trial Completed NCT00233038 Phase 2, Phase 3
38 Additional Benefit of Hemostatic Sealant in Preserving Ovarian Reserve During Laparoscopic Ovarian Cystectomy: a Randomized Controlled Trial Completed NCT01857466 Phase 3
39 Do Peritoneal Nebulization of Ropivacaine Reduce the Use of Morphine After Short Gynecologic Laparoscopic Surgery? Completed NCT01142622 Phase 3 Ropivacaine nebulization;Ropivacaine instillation
40 Single-Port Compared With Conventional Laparoscopic Cystectomy for Ovarian Dermoid Cysts Completed NCT02009228 Phase 3
41 Single Port Laparoscopy Versus Conventional Laparoscopy for Benign Adnexal Disease - A Randomized Controlled Trial. Completed NCT01288599 Phase 3
42 A Single Center, Randomized, Investigator-initiated Phase III Trial to Evaluate the Efficacy of Preservation of Ovarian Function and Hemostasis, and Its Safety of Surgiguard@ During Laparoscopic Ovarian Cystectomy Completed NCT03374397 Phase 3 Surgiguard
43 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
44 The Effect of Ganglion Sphenopalatine Block (GSP-block) Versus Placebo on Postdural Puncture Headache: a Blinded Randomized Clinical Trial Completed NCT03652714 Phase 3
45 Comparison Between Surgical Excision and Manual Rupture for Dorsal Carpal Ganglion Completed NCT01017900 Phase 3
46 Comparison Ropivacaine and Bupivacaine in Sphenopalatine Ganglion Block for Postoperative Analgesia After Functional Endoscopic Sinus Surgery: A Randomized Controlled Trial Completed NCT03013361 Phase 3 Bupivacaine;Ropivacaine
47 Impact of Infiltration in the Region of the Palatine Ganglion Spheno by Ropivacaine on Postoperative Pain in the Setting of Endoscopic Sinonasal Surgery. Completed NCT02821169 Phase 3 ropivacaine;saline solution 0.9%
48 CHARM II: Chemotherapy for Ablation and Resolution of Mucinous Pancreatic Cysts: a Prospective, Randomized, Double-blind, Multi-center Clinical Trial Recruiting NCT03085004 Phase 3 Ethanol;Normal saline;Paclitaxel + Gemcitabine admixture
49 Simple Bone Cysts in Kids (SBoCK) Recruiting NCT02193841 Phase 3
50 Assessment of the Efficacy of Stereotactic Intracavitary Instillation of 90yttrium Colloid for Treatment of Cystic Lesions of the Pituitary and Surrounding Areas (Sellar/Parasellar Region) Recruiting NCT02081768 Phase 3

Search NIH Clinical Center for Polycystic Liver Disease 1 with or Without Kidney Cysts

Cochrane evidence based reviews: cysts

Sources

Genetic Tests for Polycystic Liver Disease 1 with or Without Kidney Cysts

About this section

Genetic tests related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 1 29 PRKCSH
Sources

Anatomical Context for Polycystic Liver Disease 1 with or Without Kidney Cysts

About this section

MalaCards organs/tissues related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

40
Liver, Kidney, Bone, Pancreas, Breast, Dorsal Root Ganglion, Ovary
Sources

Publications for Polycystic Liver Disease 1 with or Without Kidney Cysts

About this section

Articles related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

(show top 50) (show all 441)
# Title Authors PMID Year
1
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. 57 6 54
12529853 2003
2
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. 6 57
29038287 2018
3
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. 6 57
12577059 2003
4
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. 6 57
11047756 2000
5
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. 57
24886261 2014
6
Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease. 57
21856269 2011
7
Adult polycystic liver and kidney diseases are separate entities. 57
3757294 1986
8
Autosomal dominant polycystic liver disease: a second family. 57
7116679 1982
9
Low high-density lipoprotein and reduced antipyrine metabolism in members of a family with polycystic liver disease. 57
7209396 1980
10
Impairment of drug metabolism in polycystic non-parasitic liver disease. 57
508507 1979
11
Megalencephalic leukoencephalopathy with cysts without MLC1 defect. 54
20517947 2010
12
Glycosylation variants of mucins and CEACAMs as candidate biomarkers for the diagnosis of pancreatic cystic neoplasms. 54
20395854 2010
13
Cathepsins B, L and cystatin C in cyst fluid of ovarian tumors. 54
19915865 2010
14
Mucinous nonneoplastic cyst of the pancreas: apomucin phenotype distinguishes this entity from intraductal papillary mucinous neoplasm. 54
19954814 2010
15
Localized intrapancreatic malignant mesothelioma: a rare entity that may be confused with other pancreatic neoplasms. 54
20148337 2010
16
Promoter methylation of sFRP5 in patients with ovarian clear cell adenocarcinoma. 54
20486992 2010
17
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. 54
20187760 2010
18
Polycystic liver diseases. 54
20138815 2010
19
Novel targets for the treatment of autosomal dominant polycystic kidney disease. 54
20141351 2010
20
MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation. 54
19931615 2010
21
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. 54
19308730 2010
22
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. 54
20138683 2010
23
Esophageal cyst producing CA19-9 and CA125. 54
20008896 2010
24
Analysis of phosphorylated proteins and inhibition of kinase activity during Giardia intestinalis excystation. 54
19861170 2010
25
Omental cyst presenting as tubercular ascites. 54
20351462 2010
26
Human cystic echinococcosis in Yasuj District in Southwest of Iran: an epidemiological study of seroprevalence and surgical cases over a ten-year period. 54
19175567 2010
27
[Birt-Hogg-Dubé syndrome]. 54
20158110 2010
28
[Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. 54
20369698 2010
29
Pancreatic cysts: preoperative diagnosis and clinical management. 54
20043327 2010
30
Dentin dysplasia type I: a case report and review of the literature. 54
20205797 2010
31
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. 54
20460933 2010
32
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. 54
19801576 2010
33
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 54
19766642 2010
34
The histopathological and immunohistochemical characteristics of pigmentary and cystic glaucoma in the Golden Retriever. 54
19883466 2009
35
[A case of retroperitoneal serous cyst resected by laparoscopic surgery]. 54
19946187 2009
36
Insulin-like growth factors and insulin-like growth factor-binding proteins in relation to disease status and incidence of hypoglycaemia in patients with a gastrointestinal stromal tumour. 54
19276395 2009
37
High genetic polymorphism among Giardia duodenalis isolates from Sahrawi children. 54
19477474 2009
38
Does intervention in utero preserve the obstructed kidneys of fetal lambs? A histological, cytological, and molecular study. 54
19390481 2009
39
Beta1-integrin is required for kidney collecting duct morphogenesis and maintenance of renal function. 54
19439520 2009
40
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 54
19419980 2009
41
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 54
19346236 2009
42
Late progression of renal pathology and cyst enlargement is reduced by rapamycin in a mouse model of nephronophthisis. 54
19421190 2009
43
[Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]. 54
19361964 2009
44
Dacryops (lacrimal cyst) in three young labrador retrievers. 54
19570903 2009
45
Molecular analysis of pancreatic cyst fluid: a comparative analysis with current practice of diagnosis. 54
19415731 2009
46
Synchronous primary carcinoid tumor and primary adenocarcinoma arising within mature cystic teratoma of horseshoe kidney: a unique case report and review of the literature. 54
19523243 2009
47
Serum antigen and antibody detection in echinococcosis: application in serodiagnosis of human hydatidosis. 54
19488422 2009
48
Serous adenocarcinoma of the retroperitoneum, as a type of multifocal müllerian carcinoma. 54
19593619 2009
49
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. 54
19483054 2009
50
Mesenchymal to epithelial transition in the human ovarian surface epithelium focusing on inclusion cysts. 54
19360296 2009
Sources

Variations for Polycystic Liver Disease 1 with or Without Kidney Cysts

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ClinVar genetic disease variations for Polycystic Liver Disease 1 with or Without Kidney Cysts:

6 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKCSH NM_002743.3(PRKCSH):c.1341-2A>G SNV Pathogenic 13238 rs1555728968 GRCh37: 19:11559889-11559889
GRCh38: 19:11449074-11449074
2 PRKCSH NM_002743.3(PRKCSH):c.292+1G>C SNV Pathogenic 13239 rs774233325 GRCh37: 19:11548793-11548793
GRCh38: 19:11437972-11437972
3 PRKCSH NM_002743.3(PRKCSH):c.1440+2_1440+3del Deletion Pathogenic 13240 rs757957327 GRCh37: 19:11559991-11559992
GRCh38: 19:11449176-11449177
4 PRKCSH NM_002743.3(PRKCSH):c.1240C>T (p.Gln414Ter) SNV Pathogenic 13241 rs121918519 GRCh37: 19:11559419-11559419
GRCh38: 19:11448604-11448604
5 PRKCSH NM_002743.3(PRKCSH):c.1269C>G (p.Tyr423Ter) SNV Pathogenic 13242 rs121918520 GRCh37: 19:11559732-11559732
GRCh38: 19:11448917-11448917
6 PRKCSH NM_002743.3(PRKCSH):c.215dup (p.Asn72fs) Duplication Pathogenic 13243 rs1555725707 GRCh37: 19:11548713-11548714
GRCh38: 19:11437892-11437893
7 SEC63 NM_007214.5(SEC63):c.452+1G>A SNV Pathogenic 225118 rs869312977 GRCh37: 6:108243000-108243000
GRCh38: 6:107921796-107921796
8 SEC63 NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) Deletion Pathogenic 225125 rs869312978 GRCh37: 6:108250623-108250623
GRCh38: 6:107929419-107929419
9 PRKCSH NM_002743.3(PRKCSH):c.1395T>G (p.Tyr465Ter) SNV Pathogenic 492970 rs1555728990 GRCh37: 19:11559945-11559945
GRCh38: 19:11449130-11449130
10 PRKCSH NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs) Duplication Pathogenic 992438 GRCh37: 19:11559099-11559100
GRCh38: 19:11448284-11448285
11 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) Deletion Pathogenic 523354 rs1553927823 GRCh37: 4:88986956-88986959
GRCh38: 4:88065804-88065807
12 PKD1 NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del) Microsatellite Pathogenic 523387 rs1555454847 GRCh37: 16:2159267-2159269
GRCh38: 16:2109266-2109268
13 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) SNV Pathogenic 433952 rs747483368 GRCh37: 16:2164809-2164809
GRCh38: 16:2114808-2114808
14 PRKCSH NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter) SNV Likely pathogenic 992384 GRCh37: 19:11548895-11548895
GRCh38: 19:11438074-11438074
15 FBN1 NM_000138.4(FBN1):c.7274A>G (p.Tyr2425Cys) SNV Likely pathogenic 373976 rs1057518809 GRCh37: 15:48717992-48717992
GRCh38: 15:48425795-48425795
16 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
17 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
18 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
19 SEC63 NM_007214.5(SEC63):c.340-8_340-7del Deletion Uncertain significance 354912 rs66526324 GRCh37: 6:108243120-108243121
GRCh38: 6:107921916-107921917
20 PRKCSH NM_002743.3(PRKCSH):c.1363C>T (p.Pro455Ser) SNV Uncertain significance 328194 rs866469235 GRCh37: 19:11559913-11559913
GRCh38: 19:11449098-11449098
21 PRKCSH NM_002743.3(PRKCSH):c.82C>T (p.His28Tyr) SNV Uncertain significance 328169 rs149258999 GRCh37: 19:11547212-11547212
GRCh38: 19:11436391-11436391
22 SEC63 NM_007214.5(SEC63):c.*3705T>G SNV Uncertain significance 354810 rs886060936 GRCh37: 6:108189203-108189203
GRCh38: 6:107867999-107867999
23 SEC63 NM_007214.5(SEC63):c.*3432dup Duplication Uncertain significance 354824 rs886060939 GRCh37: 6:108189475-108189476
GRCh38: 6:107868271-107868272
24 SEC63 NM_007214.5(SEC63):c.1936-4_1936-3insT Insertion Uncertain significance 354892 rs773608064 GRCh37: 6:108197869-108197870
GRCh38: 6:107876665-107876666
25 SEC63 NM_007214.4(SEC63):c.-237C>T SNV Uncertain significance 354923 rs563388363 GRCh37: 6:108279450-108279450
GRCh38: 6:107958246-107958246
26 SEC63 NM_007214.5(SEC63):c.*1932_*1933insA Insertion Uncertain significance 354856 rs886060946 GRCh37: 6:108190975-108190976
GRCh38: 6:107869771-107869772
27 PRKCSH NM_002743.3(PRKCSH):c.702G>A (p.Leu234=) SNV Uncertain significance 328178 rs886054198 GRCh37: 19:11557105-11557105
GRCh38: 19:11446290-11446290
28 SEC63 NM_007214.5(SEC63):c.1936-7dup Duplication Uncertain significance 354895 rs766716921 GRCh37: 6:108197870-108197871
GRCh38: 6:107876666-107876667
29 SEC63 NM_007214.5(SEC63):c.1210-7del Deletion Uncertain significance 354906 rs370485907 GRCh37: 6:108222728-108222728
GRCh38: 6:107901524-107901524
30 PRKCSH NM_002743.3(PRKCSH):c.1183G>A (p.Glu395Lys) SNV Uncertain significance 328191 rs886054199 GRCh37: 19:11559362-11559362
GRCh38: 19:11448547-11448547
31 SEC63 NM_007214.5(SEC63):c.340-12dup Duplication Uncertain significance 354915 rs886060957 GRCh37: 6:108243124-108243125
GRCh38: 6:107921920-107921921
32 SEC63 NM_007214.5(SEC63):c.*1787_*1789GTT[1] Microsatellite Uncertain significance 354864 rs886060949 GRCh37: 6:108191116-108191118
GRCh38: 6:107869912-107869914
33 SEC63 NM_007214.5(SEC63):c.*3948A>T SNV Uncertain significance 354806 rs374547546 GRCh37: 6:108188960-108188960
GRCh38: 6:107867756-107867756
34 SEC63 NM_007214.5(SEC63):c.*1931dup Duplication Uncertain significance 354858 rs55885857 GRCh37: 6:108190976-108190977
GRCh38: 6:107869772-107869773
35 SEC63 NM_007214.5(SEC63):c.*1113_*1115del Deletion Uncertain significance 354875 rs541858963 GRCh37: 6:108191793-108191795
GRCh38: 6:107870589-107870591
36 SEC63 NM_007214.5(SEC63):c.1936-4_1936-3insTTT Insertion Uncertain significance 354894 rs773608064 GRCh37: 6:108197869-108197870
GRCh38: 6:107876665-107876666
37 PRKCSH NM_002743.3(PRKCSH):c.404G>T (p.Arg135Leu) SNV Uncertain significance 328173 rs886054197 GRCh37: 19:11552108-11552108
GRCh38: 19:11441293-11441293
38 SEC63 NM_007214.5(SEC63):c.*3031del Deletion Uncertain significance 354835 rs34250899 GRCh37: 6:108189877-108189877
GRCh38: 6:107868673-107868673
39 PRKCSH NM_002743.3(PRKCSH):c.914C>T (p.Pro305Leu) SNV Uncertain significance 328186 rs201385707 GRCh37: 19:11558318-11558318
GRCh38: 19:11447503-11447503
40 PRKCSH NM_002743.3(PRKCSH):c.*150C>T SNV Uncertain significance 328199 rs886054200 GRCh37: 19:11561594-11561594
GRCh38: 19:11450779-11450779
41 SEC63 NM_007214.4(SEC63):c.-215G>A SNV Uncertain significance 354922 rs532894703 GRCh37: 6:108279428-108279428
GRCh38: 6:107958224-107958224
42 ODAD3 , PRKCSH NM_002743.3(PRKCSH):c.-105T>C SNV Uncertain significance 328168 rs886054196 GRCh37: 19:11546500-11546500
GRCh38: 19:11435679-11435679
43 PRKCSH NM_001289104.2(PRKCSH):c.1196+6G>T SNV Uncertain significance 892068 GRCh37: 19:11559112-11559112
GRCh38: 19:11448297-11448297
44 PRKCSH NM_001289104.2(PRKCSH):c.1254G>A (p.Leu418=) SNV Uncertain significance 892069 GRCh37: 19:11559412-11559412
GRCh38: 19:11448597-11448597
45 PRKCSH NM_001289104.2(PRKCSH):c.*17-12C>G SNV Uncertain significance 890309 GRCh37: 19:11561449-11561449
GRCh38: 19:11450634-11450634
46 PRKCSH NM_001289104.2(PRKCSH):c.*106G>A SNV Uncertain significance 890310 GRCh37: 19:11561550-11561550
GRCh38: 19:11450735-11450735
47 PRKCSH NM_001289104.2(PRKCSH):c.22C>A (p.Leu8Met) SNV Uncertain significance 890780 GRCh37: 19:11546960-11546960
GRCh38: 19:11436139-11436139
48 ODAD3 , PRKCSH NM_001302453.1(ODAD3):c.82+74C>T SNV Uncertain significance 328164 rs369133175 GRCh37: 19:11546437-11546437
GRCh38: 19:11435616-11435616
49 ODAD3 , PRKCSH NM_001302453.1(ODAD3):c.82+99C>T SNV Uncertain significance 328163 rs886054195 GRCh37: 19:11546412-11546412
GRCh38: 19:11435591-11435591
50 PRKCSH NM_002743.3(PRKCSH):c.-77-2A>C SNV Uncertain significance 631808 rs201157643 GRCh37: 19:11546860-11546860
GRCh38: 19:11436039-11436039
Sources

Expression for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Search GEO for disease gene expression data for Polycystic Liver Disease 1 with or Without Kidney Cysts.
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Pathways for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Pathways related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
11.41 MUC1 KRT7 KRT17 ACTC1
Sources

GO Terms for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Cellular components related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.56 PKD2 PKD1 MLC1 ENPP1
2 ciliary membrane GO:0060170 9.33 PTCH1 PKD2 PKD1
3 cation channel complex GO:0034703 9.32 PKD2 PKD1
4 cilium GO:0005929 9.1 PTCH1 PKHD1 PKD2 PKD1 NPHP1 FLCN
5 polycystin complex GO:0002133 8.96 PKD2 PKD1

Biological processes related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.73 PTCH1 PRKCSH PKD1 FLCN
2 protein heterotetramerization GO:0051290 9.55 PKD2 PKD1
3 regulation of cell-matrix adhesion GO:0001952 9.54 TSC1 PKHD1
4 placenta blood vessel development GO:0060674 9.52 PKD2 PKD1
5 detection of mechanical stimulus GO:0050982 9.51 PKD2 PKD1
6 metanephric collecting duct development GO:0072205 9.49 PTCH1 PKD1
7 genitalia development GO:0048806 9.48 PKD1 HNF1B
8 cytoplasmic sequestering of transcription factor GO:0042994 9.46 PKD2 PKD1
9 mesonephric tubule development GO:0072164 9.4 PKD2 PKD1
10 metanephric ascending thin limb development GO:0072218 9.37 PKD2 PKD1
11 liver development GO:0001889 9.35 SEC63 PRKCSH PKD2 PKD1 HNF1B
12 nitrogen compound metabolic process GO:0006807 9.33 SEC63 PRKCSH PKD1
13 mesonephric duct development GO:0072177 9.32 PKD2 PKD1
14 cell-cell signaling by wnt GO:0198738 9.26 PKD2 PKD1
15 kidney development GO:0001822 9.1 TSC1 PKHD1 PKD2 PKD1 HNF1B FBN1

Molecular functions related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.17 TSC1 PTCH1 PRKCSH MLC1 HNF1B FLCN
Sources

Sources for Polycystic Liver Disease 1 with or Without Kidney Cysts

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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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