PCLD1
MCID: PLY169
MIFTS: 60

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

Categories: Genetic diseases, Liver diseases, Nephrological diseases
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Aliases & Classifications for Polycystic Liver Disease 1 with or Without Kidney Cysts

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

Name: Polycystic Liver Disease 1 with or Without Kidney Cysts 57 73
Polycystic Liver Disease 1 57 28 5
Pcld1 57 73
Cyst 71 75
Liver Disease, Polycystic, Type 1 38
Polycystic Liver Disease 71

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
adult onset
kidney cysts are usually incidental findings and do not cause significant renal diseaes


Classifications:



External Ids:

OMIM® 57 174050
OMIM Phenotypic Series 57 PS174050
UMLS 71 C0010709 C0158683

Summaries for Polycystic Liver Disease 1 with or Without Kidney Cysts

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 08-Dec-2022)

MalaCards based summary: Polycystic Liver Disease 1 with or Without Kidney Cysts, also known as polycystic liver disease 1, is related to bile duct cysts and benign teratoma, 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 are Cytoskeletal Signaling and Bardet-Biedl syndrome. The drugs Silver nitrate and Norgestrel have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and pancreas, and related phenotypes are elevated circulating alkaline phosphatase concentration and abnormality of the cardiovascular system

UniProtKB/Swiss-Prot: 73 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.

Wikipedia: 75 A cyst is a closed sac, having a distinct envelope and division compared with the nearby tissue. Hence,... more...

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

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 2842)
# Related Disease Score Top Affiliating Genes
1 bile duct cysts 32.6 PKHD1 KRT7
2 benign teratoma 32.5 PTCH1 KRT7 CALB2
3 cystic teratoma 31.7 MUC1 KRT7 CALB2
4 polycystic liver disease 31.5 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
5 cystadenoma 31.4 MUC16 MUC1 KRT7 CEACAM3 CALB2
6 cystic kidney disease 31.3 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
7 papillary carcinoma 31.0 MUC1 KRT7 CALB2
8 teratoma 31.0 MUC1 KRT7 CALB2 ACTC1
9 lymphangioma 30.8 KRT7 CALB2 ACTC1
10 polycystic kidney disease 1 with or without polycystic liver disease 30.7 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
11 polycystic kidney disease 2 with or without polycystic liver disease 30.7 PKHD1 PKD2 PKD1 HNF1B
12 neurilemmoma 30.7 MUC1 CALB2 ACTC1
13 autosomal dominant polycystic kidney disease 30.7 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
14 mucoepidermoid carcinoma 30.7 MUC1 KRT7 ACTC1
15 mediastinal cancer 30.6 KRT7 CALB2
16 papillary adenocarcinoma 30.6 MUC16 MUC1 KRT7
17 acute cholangitis 30.5 PKHD1 MUC1
18 polycystic kidney disease 30.5 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
19 liver disease 30.5 SEC63 PRKCSH PKHD1 PKD2 PKD1
20 multicystic dysplastic kidney 30.5 PKD2 PKD1
21 cystadenocarcinoma 30.4 MUC16 MUC1 KRT7 CEACAM3 ACTC1
22 congenital hepatic fibrosis 30.3 PKHD1 PKD2 PKD1
23 pseudomyxoma peritonei 30.3 MUC16 MUC1 KRT7
24 gallbladder cancer 30.3 MUC16 MUC1 KRT7 CEACAM3
25 kidney disease 30.3 TSC1 PRKCSH PKHD1 PKD2 PKD1 NPHP1
26 bile duct cystadenocarcinoma 30.3 MUC1 KRT7
27 pneumothorax 30.2 TSC1 MUC1 FLCN FBN1 CALB2 ACTC1
28 mucinous cystadenocarcinoma 30.2 MUC16 MUC1 KRT7 CEACAM3
29 biliary papillomatosis 30.2 MUC1 KRT7
30 ovary adenocarcinoma 30.2 MUC16 MUC1 KRT7
31 pancreatic mucinous cystadenoma 30.2 MUC1 CALB2
32 leiomyosarcoma 30.1 MUC16 MUC1 ACTC1
33 clear cell adenocarcinoma 30.1 MUC16 KRT7 HNF1B
34 polycystic kidney disease 4 with or without polycystic liver disease 30.1 SEC63 PRKCSH PKHD1 PKD2 PKD1 NPHP1
35 birt-hogg-dube syndrome 30.1 TSC1 KRT7 FLCN
36 heart cancer 30.1 TSC1 KRT7 CALB2
37 hemangioma 30.1 TSC1 PKD1 MUC1 KRT7 CALB2 ACTC1
38 thymic carcinoma 30.1 MUC1 KRT7 CEACAM3 CALB2
39 endosalpingiosis 30.0 KRT7 CALB2
40 gallbladder adenocarcinoma 30.0 MUC1 KRT7 KRT17
41 tuberculous peritonitis 30.0 MUC16 CALB2
42 large cell carcinoma 30.0 MUC1 KRT7 CEACAM3
43 adenomatoid tumor 30.0 MUC1 KRT7 CALB2
44 papillary cystadenocarcinoma 30.0 MUC16 KRT7
45 chronic kidney disease 30.0 PKD2 PKD1 NPHP1 HNF1B ENPP1
46 sarcoma, synovial 30.0 MUC1 KRT7 CALB2
47 serous cystadenocarcinoma 30.0 MUC16 KRT7 HNF1B CALB2
48 skin benign neoplasm 30.0 PTCH1 KRT7 FLCN
49 oncocytoma 30.0 MUC1 KRT7 HNF1B FLCN
50 fibroma 30.0 TSC1 PTCH1 MUC16 KRT7 CALB2 ACTC1

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

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

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

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated circulating alkaline phosphatase concentration 30 Occasional (7.5%) HP:0003155
2 abnormality of the cardiovascular system 30 HP:0001626
3 ascites 30 HP:0001541
4 back pain 30 HP:0003418
5 dyspnea 30 HP:0002094
6 abnormality of the nervous system 30 HP:0000707
7 renal cyst 30 HP:0000107
8 abdominal distention 30 HP:0003270
9 increased total bilirubin 30 HP:0003573
10 polycystic liver disease 30 HP:0006557

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-1 9.13 ENPP1 PKD2
2 Increased cell migration GR00055-A-3 9.13 PKD2
3 Decreased viability in pancreas lineage GR00235-A 8.62 KRT17 KRT7

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.22 ENPP1 FBN1 FLCN HNF1B KRT7 NPHP1
2 homeostasis/metabolism MP:0005376 10.22 ACTC1 ENPP1 FBN1 FLCN HNF1B KRT17
3 growth/size/body region MP:0005378 10.07 ACTC1 ENPP1 FBN1 FLCN HNF1B KRT17
4 cellular MP:0005384 10.03 ACTC1 ENPP1 FBN1 FLCN HNF1B KRT17
5 liver/biliary system MP:0005370 10.02 ENPP1 HNF1B MUC1 PKD1 PKD2 PKHD1
6 cardiovascular system MP:0005385 9.7 ACTC1 ENPP1 FBN1 FLCN KRT17 NPHP1
7 integument MP:0010771 9.28 ENPP1 FBN1 KRT17 MUC1 NPHP1 PKD1

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

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

(show top 50) (show all 209)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver nitrate Approved, Investigational Phase 4 7761-88-8
2
Norgestrel Approved Phase 4 6533-00-2
3
Dienogest Approved Phase 4 65928-58-7 13175121 68861
4
Etomidate Approved Phase 4 33125-97-2 667484
5
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
6
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
7
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
8
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Diclofenac Approved, Vet_approved Phase 4 15307-86-5, 15307-79-6 3033
11
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
12
Cetrorelix Approved, Investigational Phase 4 120287-85-6 25074887
13
Ganirelix Approved Phase 4 124904-93-4 44208957 16186319 16130966
14
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
15
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
16
Norethisterone Approved Phase 4 68-22-4 199472 6230
17
Acetaminophen Approved Phase 4 103-90-2 1983
18
Ibuprofen Approved Phase 4 15687-27-1 3672
19
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
20
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
21
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
22
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
23
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
24
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
25 Ethinyl estradiol, levonorgestrel drug combination Phase 4
26 Contraceptives, Postcoital Phase 4
27 Contraceptive Agents, Male Phase 4
28 Hypnotics and Sedatives Phase 4
29 Anesthetics, Intravenous Phase 4
30 GABA Modulators Phase 4
31 Hydrocortisone 17-butyrate 21-propionate Phase 4
32 Pharmaceutical Solutions Phase 4
33 Epinephryl borate Phase 4
34 Neurotransmitter Agents Phase 4
35 Adrenergic alpha-Agonists Phase 4
36 Adrenergic Agonists Phase 4
37 Adrenergic Agents Phase 4
38 Vasoconstrictor Agents Phase 4
39 Mydriatics Phase 4
40 Sympathomimetics Phase 4
41 Bronchodilator Agents Phase 4
42 Adrenergic beta-Agonists Phase 4
43 Anti-Asthmatic Agents Phase 4
44 Antihypertensive Agents Phase 4
45 Sympatholytics Phase 4
46 Contraceptives, Oral, Hormonal Phase 4
47 Contraceptives, Oral Phase 4
48 Contraceptive Agents Phase 4
49
Norethindrone Acetate Phase 4 541197
50 Analgesics Phase 4

Interventional clinical trials:

(show top 50) (show all 281)
# Name Status NCT ID Phase Drugs
1 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
2 The Treatment of Bartholin´s Cyst or Abscess With Silver Nitrate Unknown status NCT00786461 Phase 4
3 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
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 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
6 Sphenopalatine Ganglion Block With Adrenaline Additive for Post-Dural Puncture Headache in Orthopedic Patients: A Randomized Controlled Study Unknown status NCT04657952 Phase 4 Medical Treatment
7 A Random Clinical Trial of the Impact of Electrocoagulation on Ovarian Reserve After Laparoscopic Excision of Ovarian Cyst Completed NCT00746278 Phase 4
8 Interest in the Use of Dressings With Honey for Wound Healing After Excision of Pilonidal Cyst Completed NCT02485860 Phase 4
9 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
10 Comparison of Excision Versus Punch Incision in the Treatment of Epidermal Cysts Completed NCT00165958 Phase 4
11 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
12 GnRH Antagonist Pre-treatment in the Early Follicular Phase for Resolution of a Baseline Functional Ovarian Cyst - A Proof-of-concept Pilot Study Recruiting NCT04993924 Phase 4 Cetrorelix Acetate, Ganerelix Acetate
13 Randomized, Placebo-controlled Trial of Erector Spinae Plane Blocks (ESPB) for Perioperative Pain Management for Minimally Invasive (MIS) Lumbar Spine Surgery Recruiting NCT05029726 Phase 4 Bupivacaine-Epinephrine 0.25%-1:200,000 Injectable Solution plus clonidine;normal saline
14 Randomized Control Trial Between Norethisterone Acetate and Expectant Management in Treatment of Simple Ovarian Cysts Not yet recruiting NCT05293574 Phase 4 norethisterone acetate
15 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
16 Peritoneal Cavity Conditioning During Laparoscopic Surgery Decreases Postoperative Pain, Inflammatory Reaction and Postoperative Adhesions Terminated NCT01344486 Phase 4
17 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
18 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
19 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
20 EUS-Guided Pancreatic Injection of Cyst (EPIC) Trial Completed NCT00233038 Phase 2, Phase 3
21 The Use of Oral Desogestrel for the Preoperative Treatment of Endometrioma Compared With Placebo : A Randomized Controlled Trial Evaluation of the Effect on Cyst Diameter and Associated Pain Completed NCT04941833 Phase 2, Phase 3 Desogestrel Oral Tablet
22 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
23 A Single Center, Randomized, Investigator-initiated Phase III Trial to Evaluate the Efficacy of Preservation of Ovarian Function and Hemostasis, and Its Safety of [email protected] During Laparoscopic Ovarian Cystectomy Completed NCT03374397 Phase 3 Surgiguard
24 Single Port Laparoscopy Versus Conventional Laparoscopy for Benign Adnexal Disease - A Randomized Controlled Trial. Completed NCT01288599 Phase 3
25 Single-Port Compared With Conventional Laparoscopic Cystectomy for Ovarian Dermoid Cysts Completed NCT02009228 Phase 3
26 Comparison Between Surgical Excision and Manual Rupture for Dorsal Carpal Ganglion Completed NCT01017900 Phase 3
27 The Effect of Ganglion Sphenopalatine Block (GSP-block) Versus Placebo on Postdural Puncture Headache: a Blinded Randomized Clinical Trial Completed NCT03652714 Phase 3
28 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
29 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
30 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
31 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
32 Simple Bone Cysts in Kids (SBoCK) Recruiting NCT02193841 Phase 3
33 A Randomized, Placebo-controlled, Double-blind, Multi-center Phase 2/3 Trial to Assess Efficacy and Safety of Octreotide Subcutaneous Depot (CAM2029) in Patients With Symptomatic Polycystic Liver Disease Recruiting NCT05281328 Phase 2, Phase 3 CAM2029;Placebo
34 Treatment of Functional Ovarian Cyst Randomised Clinical Trial Not yet recruiting NCT05244811 Phase 3 Combined Oral Contraceptive;Progestin
35 Clinical Outcomes of Platelet Rich Plasma Injection Versus Corticosteroid Injection for Baker's Cyst Terminated NCT02249377 Phase 3 Corticosteroid
36 A Prospective Study of the Management of Incidentally Discovered Pancreatic Cysts Terminated NCT00550108 Phase 3
37 The Effect of Ganglion Sphenopalatine Block (SPG-block) Versus Placebo on Persistent Headache Following COVID-19 Infection: a Randomised, Blinded, Clinical Trial Terminated NCT04636034 Phase 3
38 Autologous Bone Tissue Constructed On Biodegradable Polymer for the Treatment of Aneurysmal Bone Cysts Unknown status NCT03066245 Phase 1, Phase 2
39 Does Stellate Ganglion Block Decrease Stress Response of Intubation? Unknown status NCT02732093 Phase 2 Na.Cl 0.9% (placebo);lidocaine 2%
40 Deproteinized Bovine Bone for the Treatment of Alveolar Bone Critical Size Defect in Humans: A Randomized Clinical Pilot Study Completed NCT02612740 Phase 2
41 Percutaneous Rupture of Zygapophyseal Joint Cysts Completed NCT00837070 Phase 2
42 Denosumab: A Potential Treatment Option for Aneurysmal Bone Cysts Completed NCT03415477 Phase 1, Phase 2 Denosumab (Xgeva)
43 Regeneration of Maxillary Bone Cystic Cavities by Bio Implant of MSHV-H Cells Associated to a Cross-linked Serum Scaffold Completed NCT01389661 Phase 1, Phase 2
44 The Effects of ß1-receptor Blockade and α1-adrenergic Agonist on the Kinetics of Lactated Ringer's Solution During Surgery Completed NCT01431612 Phase 1, Phase 2 Esmolol administration;Phenylephrine infusion;Lactated Ringer´s solution
45 A Randomized Trial Comparing Ibuprofen Plus Acetaminophen Versus Oxycodone Alone After Outpatient Soft Tissue Hand Surgery Completed NCT03111186 Phase 2 Oxycodone Hcl 5Mg;Ibuprofen 400 mg;Acetaminophen 650 mg
46 Phase II Trial of the Cyclin-Dependent Kinase Inhibitor PD 0332991 in Patients With Cancer Completed NCT01037790 Phase 2 PD-0332991
47 The CHARM Trial: Chemotherapy for Ablation and Resolution of Mucinous Pancreatic Cysts Completed NCT01475331 Phase 2 Ethanol;Normal Saline;Chemotherapy
48 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
49 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
50 Everolimus Added to Long Acting Octreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT01157858 Phase 2 Everolimus;Octreotide LAR

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

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

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

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 1 28 PRKCSH

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

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

MalaCards : Liver, Kidney, Pancreas, Dorsal Root Ganglion, Bone Marrow, Bone, Breast
ODiseA: Liver, Kidney

Publications for Polycystic Liver Disease 1 with or Without Kidney Cysts

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

(show top 50) (show all 446)
# Title Authors PMID Year
1
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. 53 57 5
12529853 2003
2
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. 57 5
29038287 2018
3
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. 57 5
12577059 2003
4
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. 57 5
11047756 2000
5
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease. 5
31844813 2019
6
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. 5
25263802 2014
7
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 5
25333066 2014
8
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. 57
24886261 2014
9
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation. 5
21744088 2012
10
Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease. 57
21856269 2011
11
Adult polycystic liver and kidney diseases are separate entities. 57
3757294 1986
12
Autosomal dominant polycystic liver disease: a second family. 57
7116679 1982
13
Low high-density lipoprotein and reduced antipyrine metabolism in members of a family with polycystic liver disease. 57
7209396 1980
14
Impairment of drug metabolism in polycystic non-parasitic liver disease. 57
508507 1979
15
Angiogenic gene networks are dysregulated in opioid use disorder: evidence from multi-omics and imaging of postmortem human brain. 62
34385598 2021
16
Megalencephalic leukoencephalopathy with cysts without MLC1 defect. 53
20517947 2010
17
Glycosylation variants of mucins and CEACAMs as candidate biomarkers for the diagnosis of pancreatic cystic neoplasms. 53
20395854 2010
18
Cathepsins B, L and cystatin C in cyst fluid of ovarian tumors. 53
19915865 2010
19
Mucinous nonneoplastic cyst of the pancreas: apomucin phenotype distinguishes this entity from intraductal papillary mucinous neoplasm. 53
19954814 2010
20
Localized intrapancreatic malignant mesothelioma: a rare entity that may be confused with other pancreatic neoplasms. 53
20148337 2010
21
Promoter methylation of sFRP5 in patients with ovarian clear cell adenocarcinoma. 53
20486992 2010
22
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. 53
20187760 2010
23
Polycystic liver diseases. 53
20138815 2010
24
Analysis of phosphorylated proteins and inhibition of kinase activity during Giardia intestinalis excystation. 53
19861170 2010
25
MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation. 53
19931615 2010
26
Esophageal cyst producing CA19-9 and CA125. 53
20008896 2010
27
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. 53
19308730 2010
28
Novel targets for the treatment of autosomal dominant polycystic kidney disease. 53
20141351 2010
29
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. 53
20138683 2010
30
Omental cyst presenting as tubercular ascites. 53
20351462 2010
31
Human cystic echinococcosis in Yasuj District in Southwest of Iran: an epidemiological study of seroprevalence and surgical cases over a ten-year period. 53
19175567 2010
32
[Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. 53
20369698 2010
33
Pancreatic cysts: preoperative diagnosis and clinical management. 53
20043327 2010
34
[Birt-Hogg-Dubé syndrome]. 53
20158110 2010
35
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. 53
20460933 2010
36
Dentin dysplasia type I: a case report and review of the literature. 53
20205797 2010
37
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. 53
19801576 2010
38
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 53
19766642 2010
39
The histopathological and immunohistochemical characteristics of pigmentary and cystic glaucoma in the Golden Retriever. 53
19883466 2009
40
[A case of retroperitoneal serous cyst resected by laparoscopic surgery]. 53
19946187 2009
41
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. 53
19276395 2009
42
High genetic polymorphism among Giardia duodenalis isolates from Sahrawi children. 53
19477474 2009
43
Does intervention in utero preserve the obstructed kidneys of fetal lambs? A histological, cytological, and molecular study. 53
19390481 2009
44
[Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]. 53
19361964 2009
45
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 53
19419980 2009
46
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 53
19346236 2009
47
Late progression of renal pathology and cyst enlargement is reduced by rapamycin in a mouse model of nephronophthisis. 53
19421190 2009
48
Beta1-integrin is required for kidney collecting duct morphogenesis and maintenance of renal function. 53
19439520 2009
49
Dacryops (lacrimal cyst) in three young labrador retrievers. 53
19570903 2009
50
Molecular analysis of pancreatic cyst fluid: a comparative analysis with current practice of diagnosis. 53
19415731 2009

Variations for Polycystic Liver Disease 1 with or Without Kidney Cysts

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

5 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKCSH NM_001289104.2(PRKCSH):c.1362-2A>G SNV Pathogenic
13238 rs1555728968 GRCh37: 19:11559889-11559889
GRCh38: 19:11449074-11449074
2 PRKCSH NM_001289104.2(PRKCSH):c.292+1G>C SNV Pathogenic
13239 rs774233325 GRCh37: 19:11548793-11548793
GRCh38: 19:11437972-11437972
3 PRKCSH NM_001289104.2(PRKCSH):c.1461+2_1461+3del DEL Pathogenic
13240 rs757957327 GRCh37: 19:11559991-11559992
GRCh38: 19:11449176-11449177
4 PRKCSH NM_001289104.2(PRKCSH):c.1261C>T (p.Gln421Ter) SNV Pathogenic
13241 rs121918519 GRCh37: 19:11559419-11559419
GRCh38: 19:11448604-11448604
5 PRKCSH NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter) SNV Pathogenic
13242 rs121918520 GRCh37: 19:11559732-11559732
GRCh38: 19:11448917-11448917
6 PRKCSH NM_001289104.2(PRKCSH):c.215dup (p.Asn72fs) DUP Pathogenic
13243 rs1555725707 GRCh37: 19:11548713-11548714
GRCh38: 19:11437892-11437893
7 SEC63 NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) DEL Pathogenic
225125 rs869312978 GRCh37: 6:108250623-108250623
GRCh38: 6:107929419-107929419
8 PRKCSH NM_001289104.2(PRKCSH):c.1416T>G (p.Tyr472Ter) SNV Pathogenic
492970 rs1555728990 GRCh37: 19:11559945-11559945
GRCh38: 19:11449130-11449130
9 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) DEL Pathogenic
523354 rs1553927823 GRCh37: 4:88986956-88986959
GRCh38: 4:88065804-88065807
10 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) SNV Pathogenic
433952 rs747483368 GRCh37: 16:2164809-2164809
GRCh38: 16:2114808-2114808
11 PKD1 NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) MICROSAT Pathogenic
523387 rs1555454847 GRCh37: 16:2159267-2159269
GRCh38: 16:2109266-2109268
12 PKD1 NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) SNV Pathogenic
997260 rs2092423837 GRCh37: 16:2158696-2158696
GRCh38: 16:2108695-2108695
13 PRKCSH NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs) DUP Pathogenic
992438 rs1970419486 GRCh37: 19:11559099-11559100
GRCh38: 19:11448284-11448285
14 PRKCSH NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) MICROSAT Pathogenic
1048653 GRCh37: 19:11552071-11552072
GRCh38: 19:11441256-11441257
15 SEC63 NM_007214.5(SEC63):c.452+1G>A SNV Pathogenic
225118 rs869312977 GRCh37: 6:108243000-108243000
GRCh38: 6:107921796-107921796
16 PKD1 NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) DEL Pathogenic
447985 rs1555455457 GRCh37: 16:2160153-2160154
GRCh38: 16:2110152-2110153
17 PRKCSH NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter) SNV Likely Pathogenic
992384 rs756238324 GRCh37: 19:11548895-11548895
GRCh38: 19:11438074-11438074
18 FBN1 NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys) SNV Likely Pathogenic
373976 rs1057518809 GRCh37: 15:48717992-48717992
GRCh38: 15:48425795-48425795
19 PRKCSH NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs) MICROSAT Likely Pathogenic
1179126 GRCh37: 19:11553290-11553293
GRCh38: 19:11442475-11442478
20 PRKCSH NM_001289104.2(PRKCSH):c.762+2T>C SNV Likely Pathogenic
636894 rs112915100 GRCh37: 19:11557167-11557167
GRCh38: 19:11446352-11446352
21 PRKCSH NM_001289104.2(PRKCSH):c.683+1G>A SNV Likely Pathogenic
1685413 GRCh37: 19:11556289-11556289
GRCh38: 19:11445474-11445474
22 SEC63 NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) MICROSAT Conflicting Interpretations Of Pathogenicity
354899 rs752018806 GRCh37: 6:108204320-108204322
GRCh38: 6:107883116-107883118
23 PRKCSH NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) SNV Conflicting Interpretations Of Pathogenicity
283561 rs139991238 GRCh37: 19:11552120-11552120
GRCh38: 19:11441305-11441305
24 SEC63 NM_007214.5(SEC63):c.1936-7_1936-5dup DUP Conflicting Interpretations Of Pathogenicity
354897 rs766716921 GRCh37: 6:108197870-108197871
GRCh38: 6:107876666-107876667
25 PRKCSH NM_001289104.2(PRKCSH):c.1204G>A (p.Glu402Lys) SNV Uncertain Significance
328191 rs886054199 GRCh37: 19:11559362-11559362
GRCh38: 19:11448547-11448547
26 SEC63 NM_007214.5(SEC63):c.340-12dup DUP Uncertain Significance
354915 rs886060957 GRCh37: 6:108243124-108243125
GRCh38: 6:107921920-107921921
27 SEC63 NM_007214.5(SEC63):c.*1787GTT[1] MICROSAT Uncertain Significance
354864 rs886060949 GRCh37: 6:108191116-108191118
GRCh38: 6:107869912-107869914
28 PRKCSH NM_001289104.2(PRKCSH):c.1384C>T (p.Pro462Ser) SNV Uncertain Significance
328194 rs866469235 GRCh37: 19:11559913-11559913
GRCh38: 19:11449098-11449098
29 PRKCSH NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr) SNV Uncertain Significance
328169 rs149258999 GRCh37: 19:11547212-11547212
GRCh38: 19:11436391-11436391
30 SEC63 NM_007214.5(SEC63):c.*3705T>G SNV Uncertain Significance
354810 rs886060936 GRCh37: 6:108189203-108189203
GRCh38: 6:107867999-107867999
31 SEC63 NM_007214.5(SEC63):c.*3432dup DUP Uncertain Significance
354824 rs886060939 GRCh37: 6:108189475-108189476
GRCh38: 6:107868271-107868272
32 PRKCSH NM_001289104.2(PRKCSH):c.*150C>T SNV Uncertain Significance
328199 rs886054200 GRCh37: 19:11561594-11561594
GRCh38: 19:11450779-11450779
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 DUP Uncertain Significance
354858 rs55885857 GRCh37: 6:108190976-108190977
GRCh38: 6:107869772-107869773
35 SEC63 NM_007214.5(SEC63):c.*1113_*1115del DEL Uncertain Significance
354875 rs541858963 GRCh37: 6:108191793-108191795
GRCh38: 6:107870589-107870591
36 SEC63 NM_007214.5(SEC63):c.1936-4_1936-3insTTT INSERT Uncertain Significance
354894 rs773608064 GRCh37: 6:108197869-108197870
GRCh38: 6:107876665-107876666
37 PRKCSH NM_001289104.2(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 DEL Uncertain Significance
354835 rs34250899 GRCh37: 6:108189877-108189877
GRCh38: 6:107868673-107868673
39 PRKCSH NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) SNV Uncertain Significance
328186 rs201385707 GRCh37: 19:11558318-11558318
GRCh38: 19:11447503-11447503
40 PRKCSH NM_001289104.2(PRKCSH):c.393C>T (p.Ala131=) SNV Uncertain Significance
328172 rs780423740 GRCh37: 19:11552097-11552097
GRCh38: 19:11441282-11441282
41 PRKCSH NM_001289104.2(PRKCSH):c.1197-14G>A SNV Uncertain Significance
328190 rs141301073 GRCh37: 19:11559341-11559341
GRCh38: 19:11448526-11448526
42 SEC63 NM_007214.5(SEC63):c.1936-27_1936-26dup DUP Uncertain Significance
354898 rs749125299 GRCh37: 6:108197874-108197875
GRCh38: 6:107876670-107876671
43 SEC63 NM_007214.5(SEC63):c.*1932_*1937del DEL Uncertain Significance
354854 rs886060945 GRCh37: 6:108190971-108190976
GRCh38: 6:107869767-107869772
44 SEC63 NM_007214.5(SEC63):c.*1927_*1932del DEL Uncertain Significance
354857 rs772400721 GRCh37: 6:108190976-108190981
GRCh38: 6:107869772-107869777
45 SEC63 NM_007214.5(SEC63):c.*3480dup DUP Uncertain Significance
354820 rs56104837 GRCh37: 6:108189427-108189428
GRCh38: 6:107868223-107868224
46 SEC63 NM_007214.5(SEC63):c.*1920_*1921insC INSERT Uncertain Significance
354860 rs886060948 GRCh37: 6:108190987-108190988
GRCh38: 6:107869783-107869784
47 PRKCSH NM_001289104.2(PRKCSH):c.-77-2A>C SNV Uncertain Significance
631808 rs201157643 GRCh37: 19:11546860-11546860
GRCh38: 19:11436039-11436039
48 PRKCSH NM_001289104.2(PRKCSH):c.1395C>T (p.Asp465=) SNV Uncertain Significance
888606 rs138505797 GRCh37: 19:11559924-11559924
GRCh38: 19:11449109-11449109
49 PRKCSH NM_001289104.2(PRKCSH):c.*17-12C>G SNV Uncertain Significance
890309 rs968650873 GRCh37: 19:11561449-11561449
GRCh38: 19:11450634-11450634
50 PRKCSH NM_001289104.2(PRKCSH):c.*106G>A SNV Uncertain Significance
890310 rs551163875 GRCh37: 19:11561550-11561550
GRCh38: 19:11450735-11450735

Expression for Polycystic Liver Disease 1 with or Without Kidney Cysts

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

Pathways for Polycystic Liver Disease 1 with or Without Kidney Cysts

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 11.95 MUC1 KRT7 KRT17 ACTC1
2
Show member pathways
11.49 PTCH1 PKHD1 PKD2 PKD1 FLCN
3 11.07 PKHD1 PKD2 PKD1 NPHP1 FLCN

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

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 ciliary membrane GO:0060170 9.63 PTCH1 PKD2 PKD1
2 cilium GO:0005929 9.36 PTCH1 PKHD1 PKD2 PKD1 NPHP1 FLCN
3 polycystin complex GO:0002133 9.26 PKD2 PKD1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.97 HNF1B PKD1 PKD2 PRKCSH SEC63
2 epithelial cell proliferation GO:0050673 9.88 PTCH1 HNF1B FLCN
3 branching morphogenesis of an epithelial tube GO:0048754 9.88 PKHD1 PKD1 HNF1B
4 metanephric collecting duct development GO:0072205 9.8 PTCH1 PKD1
5 cytoplasmic sequestering of transcription factor GO:0042994 9.76 PKD2 PKD1
6 metanephric ascending thin limb development GO:0072218 9.73 PKD2 PKD1
7 cell-cell signaling by wnt GO:0198738 9.67 PKD2 PKD1
8 mesonephric duct development GO:0072177 9.65 PKD2 PKD1 HNF1B
9 mesonephric tubule development GO:0072164 9.55 PKD2 PKD1 HNF1B
10 nitrogen compound metabolic process GO:0006807 9.35 SEC63 PRKCSH PKD1 ENPP1
11 kidney development GO:0001822 9.32 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 9.44 TSC1 PTCH1 PRKCSH MLC1 HNF1B FLCN

Sources for Polycystic Liver Disease 1 with or Without Kidney Cysts

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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