PCLD1
MCID: PLY169
MIFTS: 60

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

Categories: Genetic diseases, Liver diseases, Nephrological diseases

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 56 73
Polycystic Liver Disease 1 56 29 6
Pcld1 56 73
Liver Disease, Polycystic, Type 1 39
Polycystic Liver Disease 71
Cysts 43
Cyst 71

Characteristics:

OMIM:

56
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:



External Ids:

OMIM 56 174050
OMIM Phenotypic Series 56 PS174050
UMLS 71 C0010709 C0158683

Summaries for Polycystic Liver Disease 1 with or Without Kidney Cysts

OMIM : 56 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)

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 cystic 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 is Cytoskeletal Signaling. The drugs silver nitrate and Polidocanol have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are elevated alkaline phosphatase and abnormality of the cardiovascular system

UniProtKB/Swiss-Prot : 73 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.

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 2973)
# Related Disease Score Top Affiliating Genes
1 bile duct cysts 34.4 PRKCSH KRT7
2 cystic teratoma 33.3 MUC16 KRT7 CALB2
3 benign teratoma 33.2 PTCH1 MUC1 KRT7 CALB2
4 polycystic liver disease 32.9 SEC63 PRKCSH PKHD1 PKD2 PKD1 LRP5
5 multicystic dysplastic kidney 32.7 PKD2 PKD1
6 polycystic kidney disease 32.5 TSC1 PRKCSH PKHD1 PKD2 PKD1 LRP5
7 polycystic kidney disease 2 with or without polycystic liver disease 32.4 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
8 autosomal dominant polycystic kidney disease 32.4 TSC1 PKHD1 PKD2 PKD1 LRP5 HNF1B
9 autosomal dominant tubulointerstitial kidney disease 32.3 MUC1 HNF1B
10 meckel syndrome, type 1 32.3 PTCH1 PKHD1 PKD2 PKD1 NPHP1
11 ovarian serous cystadenofibroma 32.3 MUC1 KRT7 CALB2
12 nephronophthisis 32.3 PKHD1 PKD2 PKD1 NPHP1 MUC1 HNF1B
13 cystic kidney disease 32.3 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
14 nephronophthisis 2 32.3 PKHD1 PKD2 PKD1 NPHP1
15 papillary cystadenocarcinoma 32.2 MUC16 KRT7
16 ovarian cystadenocarcinoma 32.2 MUC16 MUC1 CALB2
17 cystadenoma 32.0 MUC16 MUC1 KRT7 CEACAM3 CALB2
18 nephronophthisis-like nephropathy 1 32.0 SEC63 PRKCSH NPHP1
19 polycystic kidney disease 4 with or without polycystic liver disease 32.0 SEC63 PRKCSH PKHD1 PKD2 PKD1 NPHP1
20 caroli disease 31.9 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
21 polycystic kidney disease 1 with or without polycystic liver disease 31.9 TSC1 SEC63 PRKCSH PKHD1 PKD2 PKD1
22 teratoma 31.4 KRT7 CALB2 ACTC1
23 papillary carcinoma 31.1 MUC1 KRT7 CALB2
24 spindle cell sarcoma 30.8 MUC1 KRT7 ACTC1
25 benign mesothelioma 30.8 KRT7 CALB2
26 congenital hepatic fibrosis 30.8 PKHD1 PKD1
27 neurilemmoma 30.8 MUC1 CALB2 ACTC1
28 papillary adenocarcinoma 30.8 MUC16 MUC1 KRT7
29 mucoepidermoid carcinoma 30.8 MUC1 KRT7 ACTC1
30 liver disease 30.6 SEC63 PRKCSH PKHD1 PKD2 PKD1 LRP5
31 mucinous adenocarcinoma 30.6 MUC16 MUC1 KRT7
32 pneumothorax 30.6 TSC1 MUC1 FLCN CALB2 ACTC1
33 chordoma 30.5 MUC1 KRT7 CEACAM3
34 cystadenocarcinoma 30.5 MUC16 MUC1 KRT7 CEACAM3 ACTC1
35 pseudomyxoma peritonei 30.5 MUC16 MUC1 KRT7
36 bile duct cystadenocarcinoma 30.5 MUC1 KRT7
37 angiomyolipoma 30.4 TSC1 KRT7 ACTC1
38 ovarian brenner tumor 30.4 MUC16 KRT7
39 ovarian germ cell teratoma 30.4 KRT7 CALB2
40 biliary papillomatosis 30.4 MUC1 KRT7
41 pleomorphic adenoma 30.3 MUC1 KRT7 ACTC1
42 oncocytoma 30.3 MUC1 KRT7 FLCN
43 ovarian serous cystadenocarcinoma 30.3 MUC16 MUC1 CALB2
44 angiosarcoma 30.3 MUC1 KRT7 CALB2
45 thymic carcinoma 30.3 MUC1 KRT7 CALB2
46 pancreatic mucinous cystadenoma 30.3 MUC1 KRT7
47 kidney disease 30.3 TSC1 PKHD1 PKD2 PKD1 NPHP1 MUC1
48 endosalpingiosis 30.3 MUC1 KRT7 CALB2
49 clear cell adenocarcinoma 30.2 MUC16 KRT7 HNF1B
50 syringocystadenoma papilliferum 30.2 MUC1 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:

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 dyspnea 31 HP:0002094
4 ascites 31 HP:0001541
5 back pain 31 HP:0003418
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:

56
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 ACTC1 ENPP1 FLCN HNF1B KRT17 KRT7
2 growth/size/body region MP:0005378 10.1 ACTC1 ENPP1 FLCN HNF1B KRT17 LRP5
3 homeostasis/metabolism MP:0005376 10.07 ACTC1 ENPP1 FLCN HNF1B KRT7 LRP5
4 endocrine/exocrine gland MP:0005379 10.02 HNF1B LRP5 MLC1 NPHP1 PKD1 PKD2
5 liver/biliary system MP:0005370 9.81 ENPP1 HNF1B LRP5 PKD1 PKD2 PKHD1
6 mortality/aging MP:0010768 9.77 ACTC1 ENPP1 FLCN HNF1B KRT17 LRP5
7 renal/urinary system MP:0005367 9.4 ENPP1 FLCN HNF1B KRT7 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 430)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
silver nitrate Approved, Investigational Phase 4 7761-88-8
2
Polidocanol Approved Phase 4 9002-92-0
3
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
6
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
7
Norgestrel Approved Phase 4 6533-00-2 13109
8
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
9
Etomidate Approved Phase 4 33125-97-2 36339 667484
10
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
11
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
12
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
13
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
14
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
15
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
16
Cefpirome Approved Phase 4 84957-29-9 5479539
17
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
18
Dienogest Approved Phase 4 65928-58-7
19
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
20
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
21
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
22
Benzoyl peroxide Approved Phase 4 94-36-0 7187
23
Montelukast Approved Phase 4 158966-92-8 5281040
24
Danazol Approved Phase 4 17230-88-5 28417
25
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
26
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
27
Drospirenone Approved Phase 4 67392-87-4 68873
28
leucovorin Approved Phase 4 58-05-9 6006 143
29
Zinc Approved, Investigational Phase 4 7440-66-6 32051
30
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
31
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
32
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
33
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
34
tannic acid Approved Phase 4 1401-55-4
35
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
36
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
37
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
38
Adapalene Approved Phase 4 106685-40-9 60164
39
Buserelin Approved, Investigational Phase 4 57982-77-1
40
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
41
Acetaminophen Approved Phase 4 103-90-2 1983
42
Ibuprofen Approved Phase 4 15687-27-1 3672
43
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
44
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
45
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
47
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
48
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
49 Tocotrienol Investigational Phase 4 6829-55-6
50
Gestodene Investigational Phase 4 60282-87-3 3033968

Interventional clinical trials:

(show top 50) (show all 731)
# Name Status NCT ID Phase Drugs
1 The Treatment of Bartholin´s Cyst or Abscess With Silver Nitrate Unknown status NCT00786461 Phase 4
2 An Assessment of Intra-lesional 3% Polidocanol Solution in the Treatment of Digital Myxoid Cysts Unknown status NCT02154789 Phase 4 polidocanol
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 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
6 Random Comparing Study on Two Different EUS-guided Pseudocyst Drainage Methods--Modified Naso-pancreatic Tube Drainage and Stents Drainage Unknown status NCT01585662 Phase 4
7 Cohort Prospective Study of Children With Head and Neck Cystic Malformation Who Are Treated With Intracystic OK432 Unknown status NCT01699347 Phase 4 Intracystic injection of OK432 under US guiding
8 A Prospective Randomized Open-Label Study Examining the Efficacy of Drawtex® Hydroconductive Wound Dressing and Negative Pressure Wound Therapy in Pilonidal Cystectomy Wounds Healing by Secondary Intention - A Pilot Study Unknown status NCT01857128 Phase 4
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 Efficacy & Safety of Clindamycin Phosphase 1.2% and Tretinoin 0.025% Gel vs. Vehicle for the Treatment of Acne and Acne-Induced Post Inflammatory Hyperpigmentation in Patients With Skin of Color Unknown status NCT01111994 Phase 4 Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel
11 Hormone Profiles in Adults Treated With Valproate vs. Lamotrigine Monotherapy for Newly Diagnosed Epilepsy: A Prospective Randomised Study Unknown status NCT00137709 Phase 4 Sodium valproate;Lamotrigine
12 Effect of N-Acetylcysteine on Autologous Fat Graft Survival Unknown status NCT02788292 Phase 4 Acetylcysteine
13 Comparison of Excision Versus Punch Incision in the Treatment of Epidermal Cysts Completed NCT00165958 Phase 4
14 A Random Clinical Trial of the Impact of Electrocoagulation on Ovarian Reserve After Laparoscopic Excision of Ovarian Cyst Completed NCT00746278 Phase 4
15 The Impact of Electrocoagulation on Ovarian Reserve After Laparoscopic Exc Completed NCT00713778 Phase 4
16 Bioactive Glass Granules as Bone Graft Substitute in Filling Material of Bone Defects Completed NCT01304121 Phase 4
17 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
18 FSH/LH Ratio as a Predictor of IVF Outcome in Young and Older Women Completed NCT02674178 Phase 4
19 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
20 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
21 Pain Post Abdominal Laparoscopy Prevention With Arcoxia Completed NCT00565682 Phase 4 etoricoxib 120 mg
22 Efficacy and Safety of Adapalene 0.3%/Benzoyl Peroxide 2.5% Gel Plus Doxycycline in Severe Inflammatory Acne (Non-Nodulocystic) Subjects Completed NCT02899000 Phase 4 Adapalene 0.3% / benzoyl peroxide 2.5% emulsion gel;Oral doxycycline hyclate
23 Treatment With Danazol Before Controlled Ovarian Hyperstimulation in Women With Endometriosis Undergoing IVF Completed NCT01779232 Phase 4 Danazol;placebo
24 A Multicenter, Randomized, Placebo-controlled, Double-blind Study on the Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease (ESRD) in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00414440 Phase 4 Placebo;Everolimus
25 Effect of Stellate Ganglion Block on Meniere's Disease Completed NCT01574313 Phase 4 0.25mg, fludiazine;25mg cephadol@ (diphenidol);200mg kentons@ (tocopherol nicotinate).
26 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%
27 Phase 4 Study of Effects of Montelukast Treatment on Allergic Inflammation in Children With and Without Food Allergy, Single Centered, Randomised, Double Blind, Placebo Controlled Parallel Group Cross-over Study Completed NCT01618929 Phase 4 Montelukast
28 Sleep Quality After Stellate-ganglion Block of Patients Undergoing Breast Cancer Operation Completed NCT02651519 Phase 4 0.25% ropivacaine hydrochloride;saline
29 Efficacy and Safety of Furocyst in Patients With Poly Cystic Ovary Syndrome Completed NCT02789488 Phase 4
30 Role of Myo-inositol and D-chiro Inositol on the Ovaric and Metabolic Functions Completed NCT01626443 Phase 4
31 Efficacy and Tolerability of Nicotinamide Plus Cream for Moderate Acne Vulgaris in Indonesia: A Multicenter Clinical Trial Completed NCT03626298 Phase 4 Adapalene;Nicotinamide, ABA and Zinc PCA;Placebos
32 Ovulation and Follicular Development Associated With Mid Follicular Phase Initiation of Combined Hormonal Contraception Containing Estradiol Hemihydrate Compared to Ethinyl Estradiol Completed NCT03077555 Phase 4 Zoely;Meliane ED
33 Time Course of Activity Signs at High Resolution OCT During OCT-guided High Frequency Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Age Related Macular Degeneration Completed NCT03393767 Phase 4 Ranibizumab
34 OK432 (Picibanil) in the Treatment of Lymphatic Malformations Completed NCT03427619 Phase 4 OK432
35 Single-blind, Multicenter, Parallel, Comparative, Randomized, Phase 4 Clinical Trial for the Evaluation of the Quality of Life, Efficacy and Tolerance of Duac® Gel Against Differin® Gel in the Topical Treatment of Mild to Moderate Acne Vulgaris. Completed NCT00807014 Phase 4 Duac Gel;Differin gel
36 Does Intraoperative Application of TachoSil Reduce the Number of Lymphocele After Pelvic Lymphadenectomy? Completed NCT03752606 Phase 4
37 Is Endometrial Withdrawal Bleeding Necessary Prior to Ovulation Induction With Clomiphene Citrate? A Randomized Controlled Trial and Feasibility Study Completed NCT03309176 Phase 4 Medroxyprogesterone Acetate 10 MG
38 SD-OCT-guided Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Myopia Completed NCT03409250 Phase 4 Ranibizumab, Lucentis
39 The Role of Estrogen in Luteinizing Hormone Surge and Ovulation Completed NCT01999569 Phase 4 Letrozole
40 A Comparative Study, Randomized, Blinded, About the Effect of Pre-treatment With GnRH Analogues Versus Placebo in Infertile Patients With Endometriosis Undergoing in Vitro Fertilization Treatment Completed NCT01581359 Phase 4 Triptorelin acetate
41 U0289-402: An Open Label, 8 Week Study to Evaluate the Efficacy and Tolerability of MAXCLARITY II in Subjects With Acne Completed NCT01706263 Phase 4 MAXCLARITY II (2.5% BPO) Foam Cleanser;MAXCLARITY II (2.5% BPO) Foam Treatment;MAXCLARITY II (0.5% Salicylic Acid) Toner Foam
42 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
43 the Effect of Unfractionated Heparin in Treatment of IVF-ET Failure Completed NCT01214772 Phase 4 heparin
44 Which do You Think is the Best Treatment Choice in Primary Dysmenorrhea? Completed NCT03124524 Phase 4 estradiol valerate/dienogest;ethinylestradiol and drospirenone
45 U0289-404: An Evaluator Blinded, 8 Week, Split Face Study to Evaluate and Compare the Efficacy and Tolerability of MAXCLARITYII and MURAD in Subjects With Acne Completed NCT02524665 Phase 4
46 U0289-401: An Evaluator Blinded, 8 Week, Split-Face Study to Evaluate and Compare the Efficacy and Tolerability of MAXCLARITY II and PROACTIV in Subjects With Acne Completed NCT01706250 Phase 4
47 The Efficacy of Demineralized Bone Matrix and Autogenous Bone Graft in Accelerated Fracture Healing in Closed Tibia Fracture Completed NCT00299052 Phase 4
48 Interest in the Use of Dressings With Honey for Wound Healing After Excision of Pilonidal Cyst Recruiting NCT02485860 Phase 4
49 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 Recruiting NCT03003013 Phase 4
50 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Recruiting NCT03949894 Phase 4 Tolvaptan

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

Cochrane evidence based reviews: 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 29 PRKCSH

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

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

40
Kidney, Liver, Bone, Pancreas, Breast, Ovary, Thyroid

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 441)
# Title Authors PMID Year
1
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. 54 6 56
12529853 2003
2
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. 6 56
29038287 2018
3
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. 56 6
12577059 2003
4
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. 6 56
11047756 2000
5
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. 56
24886261 2014
6
Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease. 56
21856269 2011
7
Adult polycystic liver and kidney diseases are separate entities. 56
3757294 1986
8
Autosomal dominant polycystic liver disease: a second family. 56
7116679 1982
9
Low high-density lipoprotein and reduced antipyrine metabolism in members of a family with polycystic liver disease. 56
7209396 1980
10
Impairment of drug metabolism in polycystic non-parasitic liver disease. 56
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
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. 54
20138683 2010
20
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. 54
19308730 2010
21
Novel targets for the treatment of autosomal dominant polycystic kidney disease. 54
20141351 2010
22
Esophageal cyst producing CA19-9 and CA125. 54
20008896 2010
23
Analysis of phosphorylated proteins and inhibition of kinase activity during Giardia intestinalis excystation. 54
19861170 2010
24
Omental cyst presenting as tubercular ascites. 54
20351462 2010
25
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
26
MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation. 54
19931615 2010
27
[Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. 54
20369698 2010
28
Pancreatic cysts: preoperative diagnosis and clinical management. 54
20043327 2010
29
[Birt-Hogg-Dubé syndrome]. 54
20158110 2010
30
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. 54
19801576 2010
31
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 54
19766642 2010
32
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. 54
20460933 2010
33
Dentin dysplasia type I: a case report and review of the literature. 54
20205797 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
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 54
19419980 2009
40
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 54
19346236 2009
41
Beta1-integrin is required for kidney collecting duct morphogenesis and maintenance of renal function. 54
19439520 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

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:

6 (show top 50) (show all 138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)deletion Pathogenic 523354 rs1553927823 4:88986956-88986959 4:88065804-88065807
2 PKD1 NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del)short repeat Pathogenic 523387 rs1555454847 16:2159267-2159269 16:2109266-2109268
3 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)SNV Pathogenic 433952 rs747483368 16:2164809-2164809 16:2114808-2114808
4 PRKCSH NM_002743.3(PRKCSH):c.1395T>G (p.Tyr465Ter)SNV Pathogenic 492970 rs1555728990 19:11559945-11559945 19:11449130-11449130
5 PRKCSH NM_002743.3(PRKCSH):c.1341-2A>GSNV Pathogenic 13238 rs1555728968 19:11559889-11559889 19:11449074-11449074
6 PRKCSH NM_002743.3(PRKCSH):c.1240C>T (p.Gln414Ter)SNV Pathogenic 13241 rs121918519 19:11559419-11559419 19:11448604-11448604
7 PRKCSH NM_002743.3(PRKCSH):c.215dup (p.Asn72fs)duplication Pathogenic 13243 rs1555725707 19:11548713-11548714 19:11437892-11437893
8 PRKCSH NM_002743.3(PRKCSH):c.1440+2_1440+3deldeletion Pathogenic 13240 rs757957327 19:11559991-11559992 19:11449176-11449177
9 PRKCSH NM_002743.3(PRKCSH):c.1269C>G (p.Tyr423Ter)SNV Pathogenic 13242 rs121918520 19:11559732-11559732 19:11448917-11448917
10 LRP5 NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)SNV Pathogenic 162391 rs141178995 11:68193580-68193580 11:68426112-68426112
11 LRP5 NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser)SNV Pathogenic 162392 rs724159826 11:68216277-68216277 11:68448809-68448809
12 LRP5 NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn)SNV Pathogenic 162393 rs724159827 11:68216341-68216341 11:68448873-68448873
13 SEC63 NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer)deletion Pathogenic 225125 rs869312978 6:108250623-108250623 6:107929419-107929419
14 LRP5 NM_002335.4(LRP5):c.1360G>A (p.Val454Met)SNV Pathogenic 183258 rs373910016 11:68154128-68154128 11:68386660-68386660
15 PRKCSH NM_002743.3(PRKCSH):c.292+1G>CSNV Pathogenic 13239 rs774233325 19:11548793-11548793 19:11437972-11437972
16 SEC63 NM_007214.5(SEC63):c.452+1G>ASNV Likely pathogenic 225118 rs869312977 6:108243000-108243000 6:107921796-107921796
17 FBN1 NM_000138.4(FBN1):c.7274A>G (p.Tyr2425Cys)SNV Likely pathogenic 373976 rs1057518809 15:48717992-48717992 15:48425795-48425795
18 SEC63 NM_007214.5(SEC63):c.1936-7_1936-5dupduplication Conflicting interpretations of pathogenicity 354897 rs766716921 6:108197870-108197871 6:107876666-107876667
19 SEC63 NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del)short repeat Conflicting interpretations of pathogenicity 354899 rs752018806 6:108204320-108204322 6:107883116-107883118
20 PRKCSH NM_002743.3(PRKCSH):c.416G>A (p.Arg139His)SNV Conflicting interpretations of pathogenicity 283561 rs139991238 19:11552120-11552120 19:11441305-11441305
21 SEC63 NM_007214.5(SEC63):c.*3948A>TSNV Uncertain significance 354806 rs374547546 6:108188960-108188960 6:107867756-107867756
22 SEC63 NM_007214.5(SEC63):c.*3480dupduplication Uncertain significance 354820 rs56104837 6:108189427-108189428 6:107868223-107868224
23 SEC63 NM_007214.5(SEC63):c.*3432dupduplication Uncertain significance 354824 rs886060939 6:108189475-108189476 6:107868271-107868272
24 SEC63 NM_007214.4(SEC63):c.-215G>ASNV Uncertain significance 354922 rs532894703 6:108279428-108279428 6:107958224-107958224
25 SEC63 NM_007214.5(SEC63):c.*1927_*1932deldeletion Uncertain significance 354857 rs772400721 6:108190976-108190981 6:107869772-107869777
26 SEC63 NM_007214.5(SEC63):c.1210-7deldeletion Uncertain significance 354906 rs370485907 6:108222728-108222728 6:107901524-107901524
27 SEC63 NM_007214.5(SEC63):c.*1920_*1921insCinsertion Uncertain significance 354860 rs886060948 6:108190987-108190988 6:107869783-107869784
28 SEC63 NM_007214.5(SEC63):c.*1787_*1789GTT[1]short repeat Uncertain significance 354864 rs886060949 6:108191116-108191118 6:107869912-107869914
29 SEC63 NM_007214.5(SEC63):c.*1113_*1115deldeletion Uncertain significance 354875 rs541858963 6:108191793-108191795 6:107870589-107870591
30 SEC63 NM_007214.5(SEC63):c.1936-4_1936-3insTTTinsertion Uncertain significance 354894 rs773608064 6:108197869-108197870 6:107876665-107876666
31 SEC63 NM_007214.5(SEC63):c.1936-7_1936-6dupduplication Uncertain significance 354896 rs766716921 6:108197870-108197871 6:107876666-107876667
32 PRKCSH NM_002743.3(PRKCSH):c.*106G>ASNV Uncertain significance 890310 19:11561550-11561550 19:11450735-11450735
33 PRKCSH NM_002743.3(PRKCSH):c.*249C>TSNV Uncertain significance 890869 19:11561693-11561693 19:11450878-11450878
34 PRKCSH NM_002743.3(PRKCSH):c.*279G>TSNV Uncertain significance 890870 19:11561723-11561723 19:11450908-11450908
35 PRKCSH NM_002743.3(PRKCSH):c.*321A>GSNV Uncertain significance 890871 19:11561765-11561765 19:11450950-11450950
36 PRKCSH NM_002743.3(PRKCSH):c.*329C>ASNV Uncertain significance 890872 19:11561773-11561773 19:11450958-11450958
37 PRKCSH NM_002743.3(PRKCSH):c.1175+6G>TSNV Uncertain significance 892068 19:11559112-11559112 19:11448297-11448297
38 PRKCSH NM_002743.3(PRKCSH):c.*17-12C>GSNV Uncertain significance 890309 19:11561449-11561449 19:11450634-11450634
39 PRKCSH NM_002743.3(PRKCSH):c.1374C>T (p.Asp458=)SNV Uncertain significance 888606 19:11559924-11559924 19:11449109-11449109
40 PRKCSH NM_002743.3(PRKCSH):c.685G>A (p.Val229Ile)SNV Uncertain significance 889615 19:11557088-11557088 19:11446273-11446273
41 PRKCSH NM_002743.3(PRKCSH):c.-77-2A>CSNV Uncertain significance 631808 rs201157643 19:11546860-11546860 19:11436039-11436039
42 PRKCSH NM_002743.3(PRKCSH):c.22C>A (p.Leu8Met)SNV Uncertain significance 890780 19:11546960-11546960 19:11436139-11436139
43 PRKCSH NM_002743.3(PRKCSH):c.234C>T (p.Thr78=)SNV Uncertain significance 892021 19:11548734-11548734 19:11437913-11437913
44 PRKCSH NM_002743.3(PRKCSH):c.888C>T (p.Asp296=)SNV Uncertain significance 890828 19:11558292-11558292 19:11447477-11447477
45 PRKCSH NM_002743.3(PRKCSH):c.969A>G (p.Glu323=)SNV Uncertain significance 890829 19:11558373-11558373 19:11447558-11447558
46 PRKCSH NM_002743.3(PRKCSH):c.1233G>A (p.Leu411=)SNV Uncertain significance 892069 19:11559412-11559412 19:11448597-11448597
47 PRKCSH NM_002743.3(PRKCSH):c.82C>T (p.His28Tyr)SNV Uncertain significance 328169 rs149258999 19:11547212-11547212 19:11436391-11436391
48 PRKCSH NM_002743.3(PRKCSH):c.1363C>T (p.Pro455Ser)SNV Uncertain significance 328194 rs866469235 19:11559913-11559913 19:11449098-11449098
49 PRKCSH NM_002743.3(PRKCSH):c.-105T>CSNV Uncertain significance 328168 rs886054196 19:11546500-11546500 19:11435679-11435679
50 PRKCSH NM_002743.3(PRKCSH):c.702G>A (p.Leu234=)SNV Uncertain significance 328178 rs886054198 19:11557105-11557105 19:11446290-11446290

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 11.41 MUC1 KRT7 KRT17 ACTC1

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 basolateral plasma membrane GO:0016323 9.56 PKD2 PKD1 MLC1 ENPP1
2 mitotic spindle GO:0072686 9.54 PKHD1 PKD2 FLCN
3 ciliary membrane GO:0060170 9.33 PTCH1 PKD2 PKD1
4 cation channel complex GO:0034703 9.32 PKD2 PKD1
5 cilium GO:0005929 9.1 PTCH1 PKHD1 PKD2 PKD1 NPHP1 FLCN
6 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 14)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.76 PTCH1 PRKCSH PKD1 FLCN
2 kidney development GO:0001822 9.65 TSC1 PKHD1 PKD2 PKD1 HNF1B
3 protein heterotetramerization GO:0051290 9.54 PKD2 PKD1
4 placenta blood vessel development GO:0060674 9.52 PKD2 PKD1
5 detection of mechanical stimulus GO:0050982 9.51 PKD2 PKD1
6 nitrogen compound metabolic process GO:0006807 9.5 SEC63 PRKCSH PKD1
7 cytoplasmic sequestering of transcription factor GO:0042994 9.49 PKD2 PKD1
8 metanephric collecting duct development GO:0072205 9.48 PTCH1 PKD1
9 mammary gland duct morphogenesis GO:0060603 9.43 PTCH1 LRP5
10 metanephric ascending thin limb development GO:0072218 9.4 PKD2 PKD1
11 cell-cell signaling by wnt GO:0198738 9.37 PKD2 PKD1
12 mesonephric tubule development GO:0072164 9.33 PKD2 PKD1 HNF1B
13 mesonephric duct development GO:0072177 9.13 PKD2 PKD1 HNF1B
14 liver development GO:0001889 9.02 SEC63 PRKCSH PKD2 PKD1 HNF1B

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 9.1 TSC1 PTCH1 PRKCSH MLC1 HNF1B FLCN

Sources for Polycystic Liver Disease 1 with or Without Kidney Cysts

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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