PKD
MCID: PLY014
MIFTS: 62

Polycystic Kidney Disease (PKD)

Categories: Blood diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Polycystic Kidney Disease

MalaCards integrated aliases for Polycystic Kidney Disease:

Name: Polycystic Kidney Disease 12 74 52 25 36 29 6 15 17
Polycystic Kidney Diseases 54 71
Pkd 52 25
Autosomal Dominant Polycystic Kidney Disease 52
Polycystic Kidney, Autosomal Dominant 71
Kidney Disease, Polycystic 39
Polycystic Renal Disease 25
Polycystic Kidneys 52
Adpkd 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0080322
KEGG 36 H00542
ICD10 32 Q61.3
UMLS 71 C0022680 C0085413

Summaries for Polycystic Kidney Disease

Genetics Home Reference : 25 Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

MalaCards based summary : Polycystic Kidney Disease, also known as polycystic kidney diseases, is related to polycystic kidney disease 4 with or without polycystic liver disease and polycystic kidney disease 1 with or without polycystic liver disease. An important gene associated with Polycystic Kidney Disease is MIR17 (MicroRNA 17). The drugs Candesartan cilexetil and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotype is renal/urinary system.

NIH Rare Diseases : 52 Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs , particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance: (1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause. (2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood.

KEGG : 36 Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts.

Wikipedia : 74 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder... more...

Related Diseases for Polycystic Kidney Disease

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 5 Polycystic Kidney Disease 4
Autosomal Dominant Polycystic Kidney Disease

Diseases related to Polycystic Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 747)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 with or without polycystic liver disease 35.5 PKHD1 PKD2 PKD1 IFT88 GANAB DZIP1L
2 polycystic kidney disease 1 with or without polycystic liver disease 35.4 PKHD1 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1
3 polycystic kidney disease 3 with or without polycystic liver disease 35.3 PKD2 PKD1 KIAA0319L GANAB
4 polycystic kidney disease 2 with or without polycystic liver disease 35.3 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3
5 autosomal dominant polycystic kidney disease 35.2 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1P1
6 caroli disease 33.6 PKHD1 PKD2 PKD1
7 polycystic liver disease 1 with or without kidney cysts 33.3 PKHD1 PKD2 PKD1 LRP5
8 nephronophthisis 33.3 PKHD1 PKD2 PKD1 IFT88
9 congenital hepatic fibrosis 33.3 PKHD1 PKD1
10 cystic kidney disease 33.2 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3
11 joubert syndrome 1 33.1 PKHD1 PKD2 PKD1L1 PKD1 NEK1 IFT88
12 polycystic liver disease 32.9 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 MIR15A
13 kidney disease 32.8 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1P1
14 liver disease 31.8 PKHD1 PKD2 PKD1 LRP5 GANAB DNAJB11
15 orthostatic intolerance 31.4 PKHD1 PKD2 PKD1
16 multicystic dysplastic kidney 30.8 PKD2 PKD1
17 meckel syndrome, type 1 30.8 PKHD1 PKD2 PKD1 IFT88
18 nephronophthisis 2 30.6 PKHD1 PKD2 PKD1 IFT88
19 kartagener syndrome 30.5 PKD2 PKD1L1 PKD1 IFT88
20 bardet-biedl syndrome 30.4 PKHD1 PKD2 PKD1 IFT88
21 polycystic kidney disease 5 12.9
22 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.9
23 polycystic kidney disease 6 with or without polycystic liver disease 12.8
24 polycystic kidney disease 4 12.7
25 polycystic kidney, cataract, and congenital blindness 12.5
26 diabetes mellitus, neonatal, with congenital hypothyroidism 12.1
27 gillessen-kaesbach-nishimura syndrome 12.0
28 orofaciodigital syndrome i 11.9
29 episodic kinesigenic dyskinesia 1 11.9
30 convulsions, familial infantile, with paroxysmal choreoathetosis 11.8
31 potter's syndrome 11.7
32 orofaciodigital syndrome 11.7
33 medullary cystic kidney disease 1 11.6
34 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.5
35 pyruvate kinase deficiency of red cells 11.2
36 nephronophthisis 14 11.2
37 acrorenal syndrome 11.2
38 hypertelorism, teebi type 11.2
39 campomelia, cumming type 11.2
40 bardet-biedl syndrome 12 11.2
41 paroxysmal exertion-induced dyskinesia 11.2
42 paroxysmal dyskinesia 11.2
43 end stage renal disease 11.1
44 aneurysm 10.8
45 chronic kidney disease 10.8
46 portal hypertension 10.7
47 intracranial aneurysm 10.7
48 dengue hemorrhagic fever 10.7
49 chronic interstitial cystitis 10.7
50 tuberous sclerosis 10.7

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


Acute Cystitis Acute Kidney Failure
Deficiency Anemia Heart Disease
Hypertension, Essential Kidney Disease
Polycystic Liver Disease

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



Diseases related to Polycystic Kidney Disease

Symptoms & Phenotypes for Polycystic Kidney Disease

MGI Mouse Phenotypes related to Polycystic Kidney Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 DZIP1L IFT88 NEK1 PKD1 PKD1L1 PKD2

Drugs & Therapeutics for Polycystic Kidney Disease

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
2
Pravastatin Approved Phase 4 81093-37-0 54687
3
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
4
Cilnidipine Investigational Phase 4 132203-70-4 5282138
5
Candesartan Experimental Phase 4 139481-59-7 2541
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic Agents Phase 4
9 Hypolipidemic Agents Phase 4
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
11 Lipid Regulating Agents Phase 4
12 Anticholesteremic Agents Phase 4
13 Antimetabolites Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Analgesics Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Antirheumatic Agents Phase 4
18
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
19
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
20
lanreotide Approved Phase 3 108736-35-2
21
Spironolactone Approved Phase 3 52-01-7, 1952-01-7 5833
22
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
23
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
24
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
25
Lisinopril Approved, Investigational Phase 3 76547-98-3, 83915-83-7 5362119
26
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
27
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
28
Hydralazine Approved Phase 3 86-54-4 3637
29
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
30
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
31
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
32
Clonidine Approved Phase 3 4205-90-7 2803
33
Metformin Approved Phase 3 657-24-9 14219 4091
34
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
35
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
36
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
37
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
38
tannic acid Approved Phase 2, Phase 3 1401-55-4
39
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
40 Triptolide Investigational Phase 3 38748-32-2
41 Contraceptive Agents, Male Phase 3
42 Alkylating Agents Phase 3
43 Contraceptive Agents Phase 3
44 Gastrointestinal Agents Phase 3
45 Liver Extracts Phase 2, Phase 3
46 Angiotensinogen Phase 3
47 Angiotensin Receptor Antagonists Phase 3
48 Angiotensin-Converting Enzyme Inhibitors Phase 3
49 Giapreza Phase 3
50 HIV Protease Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 149)
# Name Status NCT ID Phase Drugs
1 Comparison Between ARB and ARB Plus CCB on Incidence of Renal and Cardiovascular Events in Hypertensive ADPKD Patients Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
2 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
3 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
4 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
5 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
6 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Active, not recruiting NCT02494141 Phase 4 Curcumin
7 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
8 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
9 The DIPAK 1 Study: A Randomised, Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in ADPKD Unknown status NCT01616927 Phase 3 Lanreotide
10 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
11 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3 OPC-41061
12 A Multicenter, Open-label Extension Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3 tolvaptan
13 Multi-center, Open-label, Extension Study to Evaluate the Long-term Efficacy and Safety of Oral Tolvaptan Tablet Regimens in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01214421 Phase 3 Tolvaptan
14 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
15 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
16 EFFECT OF SOMATOSTTIN ON EARLY DIASTOLIC LEFT VENTRICULAR FUNCTION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: A MATCHED-COHORT, SPECKLE-TRACKING ECHOCARDIOGRAPHIC STUDY Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
17 A Phase 3b, Multi-center, Open-label Trial to Evaluate the Long Term Safety of Immediate-release Tolvaptan (OPC-41061, 30 mg to 120 mg/Day, Split Dose) in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan
18 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
19 A Phase 3, Multi-center, Double-blind, Placebo-controlled, Parallel-arm Trial to Determine Long-term Safety and Efficacy of Oral Tolvaptan Tablets Regimens in Adult Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT00428948 Phase 3 Tolvaptan;Placebo
20 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
21 A Phase 3b, Multi-center, Randomized-withdrawal, Placebo-controlled, Double-blind, Parallel-group Trial to Compare the Efficacy and Safety of Tolvaptan (45 to 120 mg/Day, Split-dose) in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease Completed NCT02160145 Phase 3 Tolvaptan (OPC-41061);Placebo
22 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
23 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
24 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
25 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
26 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED CLINICAL TRIAL TO ASSESS THE EFFECTS OF LONG-ACTING SOMATOSTATIN (OCTREOTIDE LAR) THERAPY ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND MODERATE TO SEVERE RENAL INSUFFICIENCY Completed NCT01377246 Phase 3 Octreotide-LAR
27 Effect of a Long-acting Somatostatin on Disease Progression in Nephropathy Due to Autosomal Dominant Polycystic Kidney Disease: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
28 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
29 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
30 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
31 HALT Progression of Polycystic Kidney Disease Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
32 Multicenter, Randomized, Double-blind, Placebo-controlled Two Stage Study to Characterize the Efficacy, Safety, Tolerability and Pharmacokinetics of GZ/SAR402671 in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT03523728 Phase 2, Phase 3 Venglustat GZ402671;Placebo
33 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
34 A Phase 3 Trial of Bardoxolone Methyl in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
35 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
36 A 52-Week, Phase 3, Double-blind, Placebo-controlled, Randomized Study of the Efficacy and Safety of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Not yet recruiting NCT04064346 Phase 3 Lixivaptan;Placebo
37 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
38 An Open-Label Study of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Who Previously Experienced Abnormal Liver Chemistry Test Results While Receiving Tolvaptan: The ALERT Study Not yet recruiting NCT04152837 Phase 3 Lixivaptan
39 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
40 EFFECTS OF SIROLIMUS ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND SEVERE RENAL INSUFFICIENCY Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
41 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
42 Phase II Study for the Second-Line Treatment of Hypertension in Patients With Autosomal Dominant Polycystic Kidney Disease; ACEI vs. CCB Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
43 A Randomized, Open-label Study Investigating the Effect of Bilateral Renal Artery Sympathetic Denervation by Catheter-based Radiofrequency Ablation on Blood Pressure and Disease Progression in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT01932450 Phase 2 antihypertensive drugs
44 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind, Placebo-masked, Parallel-group Pilot Trial to Compare the Efficacy, Tolerability, and Safety of Tolvaptan Modified-release and Immediate-release Formulations in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
45 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Of The Safety, Clinical Activity And Pharmacokinetics Of Bosutinib (PF-05208763) Versus Placebo In Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
46 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001] Completed NCT00841568 Phase 2 OPC-41061
47 A Phase 2, Open-Label, Multi-Center Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT03487913 Phase 2 Lixivaptan
48 The Effects of Tolvaptan on Renal Handling of Water and Sodium, Vasoactive Hormones and Central Hemodynamics During Baseline Conditions and After Inhibition of the Nitric Oxide System in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02527863 Phase 2 Tolvaptan;Placebo
49 A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases Completed NCT03366337 Phase 2 Bardoxolone methyl capsules
50 A Phase 2a, Single-center Study Investigating the Short-term Renal Hemodynamic Effects, Safety and Pharmacokinetics/ Pharmacodynamics of Oral Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease at Various Stages of Renal Function Completed NCT01336972 Phase 2 Tolvaptan

Search NIH Clinical Center for Polycystic Kidney Disease

Genetic Tests for Polycystic Kidney Disease

Genetic tests related to Polycystic Kidney Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 29

Anatomical Context for Polycystic Kidney Disease

MalaCards organs/tissues related to Polycystic Kidney Disease:

40
Kidney, Liver, Endothelial, Heart, Testes, Bone, Brain

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 7490)
# Title Authors PMID Year
1
MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation. 61 46
19821056 2010
2
MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. 61 46
18949056 2008
3
miR-25-3p promotes proliferation and inhibits autophagy of renal cells in polycystic kidney mice by regulating ATG14-Beclin 1. 61
32340512 2020
4
Revisit ligand-receptor interaction at the human vasopressin V2 receptor: A kinetic perspective. 61
32360346 2020
5
Regulation of polycystin expression, maturation and trafficking. 61
32275942 2020
6
Modulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling. 61
32335259 2020
7
STAT signaling in polycystic kidney disease. 61
32325185 2020
8
Extracellular matrix, integrins, and focal adhesion signaling in polycystic kidney disease. 61
32311505 2020
9
Endothelial-epithelial communication in polycystic kidney disease: Role of vascular endothelial growth factor signalling. 61
32243961 2020
10
Polycystins as components of large multiprotein complexes of polycystin interactors. 61
32305669 2020
11
Molecular pathways involved in injury-repair and ADPKD progression. 61
32320858 2020
12
A cut above (and below): Protein cleavage in the regulation of polycystin trafficking and signaling. 61
32283256 2020
13
Adhesion GPCRs as a paradigm for understanding polycystin-1 G protein regulation. 61
32305667 2020
14
Post-translational modifications of the polycystin proteins. 61
32320857 2020
15
Validation of non-invasive transcutaneous measurement for glomerular filtration rate in lean and obese C57BL/6J mice. 61
32180312 2020
16
Cellular signaling in PKD: foreword. 61
32247773 2020
17
Vascular complications in autosomal dominant polycystic kidney disease. 61
32571484 2020
18
Modulation of polycystic kidney disease by non-coding RNAs. 61
31982550 2020
19
The role of PPARα in autosomal dominant polycystic kidney disease. 61
32427692 2020
20
Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease. 61
32068086 2020
21
The master regulators Myc and p53 cellular signaling and functions in polycystic kidney disease. 61
32145315 2020
22
MiR-182 inhibits kidney fibrosis by regulating transforming growth factor β1/Smad3 pathway in autosomal dominant polycystic kidney disease. 61
32067333 2020
23
The endothelin system as target for therapeutic interventions in cardiovascular and renal disease. 61
32151622 2020
24
Hippo signaling-a central player in cystic kidney disease? 61
31297585 2020
25
Nephron-Specific Disruption of Polycystin-1 Induces Cyclooxygenase-2-Mediated Blood Pressure Reduction Independent of Cystogenesis. 61
32300065 2020
26
A Randomized Trial of Modified-Release Versus Immediate-Release Tolvaptan in ADPKD. 61
32518861 2020
27
Urinary Lithogenic Risk Profile in ADPKD Patients Treated with Tolvaptan. 61
32527945 2020
28
The use of a visual 4-point scoring scale improves the yield of 18F-FDG PET-CT imaging in the diagnosis of renal and hepatic cyst infection in patients with autosomal dominant polycystic kidney disease. 61
32556485 2020
29
Epithelial Vasopressin Type-2 Receptors Regulate Myofibroblasts by a YAP-CCN2-Dependent Mechanism in Polycystic Kidney Disease. 61
32554753 2020
30
New insights into targeting hepatic cystogenesis in autosomal dominant polycystic liver and kidney disease. 61
32250187 2020
31
Pathologic Lesions of the Budgett Frog (Lepidobatrachus laevis), an Emerging Laboratory Animal Model. 61
32234112 2020
32
Expanded Imaging Classification of Autosomal Dominant Polycystic Kidney Disease. 61
32487558 2020
33
Doubts about the efficacy of tolvaptan for polycystic kidney disease. 61
32000887 2020
34
Choledocholithiasis in autosomal dominant polycystic kidney disease. 61
32553703 2020
35
Robot-assisted Synchronous Bilateral Nephrectomy for Autosomal Dominant Polycystic Kidney Disease: a Stepwise Description of Technique. 61
32562776 2020
36
KIM-1 and Kidney Disease Progression in Autosomal Dominant Polycystic Kidney Disease: HALT-PKD Results. 61
32541154 2020
37
Salt, but not protein intake, is associated with accelerated disease progression in autosomal dominant polycystic kidney disease. 61
32534051 2020
38
Implications of the PAPP-A-IGFBP-IGF-1 pathway in the pathogenesis and treatment of polycystic kidney disease. 61
32569826 2020
39
Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2. 61
32533764 2020
40
Case report: tolvaptan-associated creatine kinase elevation in two patients with autosomal dominant polycystic kidney disease (ADPKD). 61
32514744 2020
41
Ganoderic acid A is the effective ingredient of Ganoderma triterpenes in retarding renal cyst development in polycystic kidney disease. 61
31911637 2020
42
New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada. 61
32505451 2020
43
Urinary Angiotensinogen in addition to Imaging Classification in the Prediction of Renal Outcome in Autosomal Dominant Polycystic Kidney Disease. 61
32508065 2020
44
Living donor liver transplantation for congenital hepatic fibrosis in children. 61
32118333 2020
45
Polycystin-1 induces activation of the PI3K/AKT/mTOR pathway and promotes angiogenesis in renal cell carcinoma. 61
32561414 2020
46
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases. 61
32040628 2020
47
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management. 61
32203225 2020
48
Association between anemia and renal prognosis in autosomal dominant polycystic kidney disease: a retrospective study. 61
32036465 2020
49
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression. 61
32166738 2020
50
Beyond a Passive Conduit: Implications of Lymphatic Biology for Kidney Diseases. 61
32295825 2020

Variations for Polycystic Kidney Disease

ClinVar genetic disease variations for Polycystic Kidney Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKHD1 NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)SNV Likely pathogenic 636580 6:51893047-51893047 6:52028249-52028249
2 PKHD1 NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)SNV Likely pathogenic 828079 6:51893146-51893146 6:52028348-52028348
3 PKHD1 NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)deletion Likely pathogenic 828080 6:51927402-51927403 6:52062604-52062605
4 PKHD1 NM_138694.4(PKHD1):c.7734-4_7736delinsCTAGAGTindel Likely pathogenic 828081 6:51720866-51720872 6:51856068-51856074
5 PKHD1 NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)SNV Conflicting interpretations of pathogenicity 549965 rs758352210 6:51915018-51915018 6:52050220-52050220
6 PKHD1 NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val)SNV Uncertain significance 828078 6:51889549-51889549 6:52024751-52024751
7 PKHD1 NM_138694.4(PKHD1):c.10797C>T (p.His3599=)SNV Likely benign 696348 6:51524127-51524127 6:51659329-51659329
8 PKHD1 NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)SNV Likely benign 698827 6:51915002-51915002 6:52050204-52050204
9 PKHD1 NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)SNV Benign 96441 rs765525 6:51613177-51613177 6:51748379-51748379

Expression for Polycystic Kidney Disease

LifeMap Discovery
Genes differentially expressed in tissues of Polycystic Kidney Disease patients vs. healthy controls: 35 (show top 50) (show all 400)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ALDOB aldolase B, fructose-bisphosphate Kidney - 10.06 0.000
2 UMOD uromodulin Kidney - 8.99 0.000
3 PAH phenylalanine hydroxylase Kidney - 8.60 0.000
4 ALB albumin Kidney - 8.46 0.000
5 CALB1 calbindin 1, 28kDa Kidney - 8.41 0.000
6 NAT8 N-acetyltransferase 8 (GCN5-related, putative) Kidney - 8.17 0.000
7 KNG1 kininogen 1 Kidney - 7.94 0.000
8 ACSM2A acyl-CoA synthetase medium-chain family member 2A Kidney - 7.94 0.000
9 GLYATL1 glycine-N-acyltransferase-like 1 Kidney - 7.82 0.000
10 GSTA1 glutathione S-transferase alpha 1 Kidney - 7.82 0.000
11 MFAP5 microfibrillar associated protein 5 Kidney + 7.82 0.000
12 DIO1 deiodinase, iodothyronine, type I Kidney - 7.73 0.000
13 MIOX myo-inositol oxygenase Kidney - 7.62 0.000
14 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) Kidney - 7.62 0.000
15 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 Kidney - 7.58 0.000
16 SLC17A3 solute carrier family 17 (organic anion transporter), member 3 Kidney - 7.56 0.000
17 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Kidney - 7.44 0.000
18 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 Kidney - 7.40 0.000
19 DPYS dihydropyrimidinase Kidney - 7.33 0.000
20 SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 Kidney - 7.30 0.000
21 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 Kidney - 7.26 0.000
22 SFRP4 secreted frizzled-related protein 4 Kidney + 7.25 0.000
23 SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 Kidney - 7.23 0.000
24 GBA3 glucosidase, beta, acid 3 (gene/pseudogene) Kidney - 7.18 0.000
25 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 7.17 0.000
26 SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 Kidney - 7.12 0.000
27 TMEM27 transmembrane protein 27 Kidney - 7.11 0.000
28 HAO2 hydroxyacid oxidase 2 (long chain) Kidney - 7.03 0.000
29 ACMSD aminocarboxymuconate semialdehyde decarboxylase Kidney - 6.93 0.000
30 PLG plasminogen Kidney - 6.90 0.000
31 AZGP1 alpha-2-glycoprotein 1, zinc-binding Kidney - 6.88 0.000
32 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) Kidney - 6.88 0.000
33 MME membrane metallo-endopeptidase Kidney - 6.85 0.000
34 AGXT2 alanine--glyoxylate aminotransferase 2 Kidney - 6.83 0.000
35 GLYAT glycine-N-acyltransferase Kidney - 6.79 0.000
36 SFRP2 secreted frizzled-related protein 2 Kidney + 6.73 0.000
37 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 Kidney - 6.73 0.000
38 GDA guanine deaminase Kidney - 6.68 0.000
39 AFM afamin Kidney - 6.67 0.000
40 G6PC glucose-6-phosphatase, catalytic subunit Kidney - 6.57 0.000
41 XIST X inactive specific transcript (non-protein coding) Kidney + 6.52 0.002
42 CTXN3 cortexin 3 Kidney - 6.50 0.000
43 SCARA5 scavenger receptor class A, member 5 Kidney + 6.44 0.000
44 FGG fibrinogen gamma chain Kidney + 6.41 0.000
45 CLRN3 clarin 3 Kidney - 6.41 0.000
46 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 Kidney - 6.41 0.000
47 CTHRC1 collagen triple helix repeat containing 1 Kidney + 6.41 0.000
48 FMO1 flavin containing monooxygenase 1 Kidney - 6.35 0.000
49 TMEM174 transmembrane protein 174 Kidney - 6.34 0.000
50 SLC22A7 solute carrier family 22 (organic anion transporter), member 7 Kidney - 6.32 0.000
Search GEO for disease gene expression data for Polycystic Kidney Disease.

Pathways for Polycystic Kidney Disease

GO Terms for Polycystic Kidney Disease

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 10 PKD2L1 PKD2 PKD1 LRP5 HAX1 GANAB
2 cell projection GO:0042995 9.98 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 IFT88
3 ciliary basal body GO:0036064 9.71 PKHD1 PKD2 IFT88 DZIP1L
4 motile cilium GO:0031514 9.65 PKD2 PKD1 IFT88
5 ciliary membrane GO:0060170 9.56 PKD2L1 PKD2 PKD1L1 PKD1
6 calcium channel complex GO:0034704 9.5 PKD2L1 PKD1L1 PKD1
7 cilium GO:0005929 9.5 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 IFT88
8 non-motile cilium GO:0097730 9.46 PKD2L1 PKD2 PKD1L1 IFT88
9 polycystin complex GO:0002133 9.37 PKD2 PKD1
10 cation channel complex GO:0034703 8.92 PKD2L1 PKD2 PKD1L3 PKD1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.87 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
2 cilium assembly GO:0060271 9.83 PKHD1 NEK1 IFT88 DZIP1L
3 calcium ion transport GO:0006816 9.65 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1
4 embryonic placenta development GO:0001892 9.59 PKD2 PKD1
5 protein tetramerization GO:0051262 9.58 PKD2L1 PKD2
6 protein heterotetramerization GO:0051290 9.58 PKD2 PKD1
7 placenta blood vessel development GO:0060674 9.57 PKD2 PKD1
8 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD2 PKD1
9 calcium ion transmembrane transport GO:0070588 9.56 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
10 cellular response to acidic pH GO:0071468 9.55 PKD2L1 PKD1L3
11 kidney development GO:0001822 9.55 PKHD1 PKD2 PKD1L3 PKD1 IFT88
12 inorganic cation transmembrane transport GO:0098662 9.54 PKD2L1 PKD2
13 mesonephric tubule development GO:0072164 9.51 PKD2 PKD1
14 mesonephric duct development GO:0072177 9.49 PKD2 PKD1
15 sensory perception of sour taste GO:0050915 9.48 PKD2L1 PKD1L3
16 metanephric ascending thin limb development GO:0072218 9.46 PKD2 PKD1
17 cell-cell signaling by wnt GO:0198738 9.43 PKD2 PKD1
18 detection of nodal flow GO:0003127 9.4 PKD2 PKD1L1
19 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.37 PKD2L1 PKD1L3
20 detection of mechanical stimulus GO:0050982 9.23 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L2
2 carbohydrate binding GO:0030246 9.56 PKD1L3 PKD1L2 PKD1 GANAB
3 Wnt-activated receptor activity GO:0042813 9.43 PKD1 LRP5
4 muscle alpha-actinin binding GO:0051371 9.4 PKD2L1 PKD2
5 cation transmembrane transporter activity GO:0008324 9.37 PKD2L1 PKD1L3
6 cation channel activity GO:0005261 9.33 PKD2L1 PKD2 PKD1L3
7 alpha-actinin binding GO:0051393 9.32 PKD2L1 PKD2
8 calcium channel activity GO:0005262 9.23 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
9 sour taste receptor activity GO:0033040 8.96 PKD2L1 PKD1L3

Sources for Polycystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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