PKD
MCID: PLY014
MIFTS: 63

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 76 53 25 37 15
Polycystic Kidney Diseases 55 73
Pkd 53 25
Autosomal Dominant Polycystic Kidney Disease 53
Polycystic Kidney, Autosomal Dominant 73
Kidney Disease, Polycystic 40
Polycystic Renal Disease 25
Polycystic Kidneys 53
Adpkd 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0080322
KEGG 37 H00542

Summaries for Polycystic Kidney Disease

NIH Rare Diseases : 53 Polycystic kidney diseaserefers 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.

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 Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and endocrine/exocrine gland

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.

Wikipedia : 76 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 344)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 with or without polycystic liver disease 34.4 DZIP1L IFT88 PKD1 PKD2 PKHD1 PRKD1
2 polycystic kidney disease 1 with or without polycystic liver disease 34.4 IFT88 PKD1 PKD2 PKD2L1 PKHD1 PRKD1
3 polycystic kidney disease 3 with or without polycystic liver disease 34.2 GANAB PKD1 PKD2 PRKD1
4 polycystic kidney disease 2 with or without polycystic liver disease 34.1 GANAB IFT88 PKD1 PKD1L1 PKD2 PKD2L1
5 autosomal dominant polycystic kidney disease 34.0 GANAB HAX1 LRP5 PKD1 PKD1P1 PKD2
6 caroli disease 32.7 PKD1 PKHD1
7 polycystic liver disease 1 with or without kidney cysts 32.4 LRP5 PKD1 PKD2 PKHD1
8 cystic kidney disease 32.3 IFT88 PKD1 PKD2 PKD2L1 PKHD1 PRKD1
9 polycystic liver disease 32.3 GANAB LRP5 MIR15A PKD1 PKD2 PKHD1
10 kidney disease 31.9 DZIP1L GANAB IFT88 NEK1 PKD1 PKD1L1
11 congenital hepatic fibrosis 30.9 PKD1 PKHD1
12 liver disease 30.9 GANAB LRP5 PKD1 PKD2 PKHD1
13 multicystic dysplastic kidney 30.0 PKD1 PKD2
14 polycystic kidney disease 5 12.6
15 polycystic kidney disease 6 with or without polycystic liver disease 12.6
16 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.6
17 polycystic kidney disease 4 12.4
18 polycystic kidney, cataract, and congenital blindness 12.2
19 gillessen-kaesbach-nishimura syndrome 11.8
20 diabetes mellitus, neonatal, with congenital hypothyroidism 11.7
21 orofaciodigital syndrome i 11.4
22 nephronophthisis 11.4
23 orofaciodigital syndrome 11.4
24 episodic kinesigenic dyskinesia 1 11.4
25 medullary cystic kidney disease 1 11.3
26 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
27 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.2
28 pyruvate kinase deficiency of red cells 11.0
29 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.0
30 nephronophthisis 14 11.0
31 potter's syndrome 11.0
32 acrorenal syndrome 11.0
33 hypertelorism, teebi type 11.0
34 campomelia, cumming type 11.0
35 bardet-biedl syndrome 12 11.0
36 arterial calcification of infancy 11.0
37 paroxysmal exertion-induced dyskinesia 11.0
38 dengue hemorrhagic fever 10.5
39 chronic interstitial cystitis 10.5
40 tuberous sclerosis 10.4
41 renal cell carcinoma, nonpapillary 10.4
42 chronic kidney failure 10.4
43 nephrolithiasis 10.3
44 intracranial aneurysm 10.3
45 cerebral aneurysms 10.3
46 lymphatic malformations 10.3 PKD1 PKD2
47 nephrotic syndrome 10.2
48 aortic aneurysm 10.2
49 myxozoa 10.2
50 tuberous sclerosis 1 10.2

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


Acute Cystitis Acute Kidney Failure
Chronic Kidney Failure Deficiency Anemia
Heart Disease Hypertension, Essential
Ischemic Heart Disease 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.92 NEK1 PKD2L1 PKD2L2 PRKD1

MGI Mouse Phenotypes related to Polycystic Kidney Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 DZIP1L HAX1 IFT88 LRP5 NEK1 PKD1
2 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 157)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
2
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 53123-88-9 46835353 6436030 5284616
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 22916-47-8 4189
6
Tolvaptan Approved Phase 4,Phase 3,Phase 2,Not Applicable 150683-30-0 216237
7
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
8
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
9
Tacrolimus Approved, Investigational Phase 4,Not Applicable 104987-11-3 445643 439492
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
13
Mycophenolic acid Approved Phase 4,Not Applicable 24280-93-1 446541
14
Prednisone Approved, Vet_approved Phase 4,Not Applicable 53-03-2 5865
15
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
16
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
17
Cilnidipine Investigational Phase 4,Phase 2 132203-70-4 5282138
18
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
19 Adrenergic alpha-Antagonists Phase 4
20 Calcium, Dietary Phase 4,Phase 3,Phase 2
21 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
22 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Early Phase 1
23 Adrenergic Antagonists Phase 4
24 calcium channel blockers Phase 4,Phase 3,Phase 2
25 Angiotensinogen Phase 4,Phase 3,Phase 2
26 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
27 Adrenergic Agents Phase 4,Not Applicable
28 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
29 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Vasopressins Phase 4,Phase 3,Phase 2,Not Applicable
36 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Not Applicable
37 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
38 Natriuretic Agents Phase 4,Phase 3,Phase 2,Not Applicable
39 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
40 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
41 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
42 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
43 Anticholesteremic Agents Phase 4,Phase 3,Not Applicable
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Not Applicable
45 Protective Agents Phase 4,Phase 3,Phase 2
46 Autonomic Agents Phase 4,Phase 2,Not Applicable
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
48 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
49 Calcineurin Inhibitors Phase 4,Phase 3,Not Applicable
50 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 123)
# Name Status NCT ID Phase Drugs
1 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
2 Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00414440 Phase 4 Placebo;Everolimus
3 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
4 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4 Curcumin
5 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
6 Prednisone Withdrawal Versus Prednisone Maintenance After Kidney Transplant Terminated NCT00596947 Phase 4 prednisone;rabbit antithymocyte globulin;Tacrolimus;Prednisone;Mycophenolate mofetil;Mycophenolate mofetil
7 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
8 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
9 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
10 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan (OPC-41061)
11 Efficacy and Safety of Tolvaptan 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
12 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
13 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
14 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Completed NCT01377246 Phase 3 Octreotide-LAR
15 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
16 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
17 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
18 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
19 A 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
20 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
21 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
22 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
23 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
24 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
25 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
26 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
27 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
28 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
29 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
30 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
31 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
32 A Medical Research Study Designed to Determine if Venglustat Can be a Future Treatment for ADPKD Patients Recruiting NCT03523728 Phase 2, Phase 3 Venglustat GZ402671;Placebo
33 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
34 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
35 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
36 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
37 Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD): The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
38 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
39 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
40 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
41 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
42 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
43 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
44 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
45 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
46 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
47 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
48 Dose-finding Study of New Tolvaptan Formulation in Subjects With ADPKD Completed NCT01210560 Phase 2 Tolvaptan MR;Tolvaptan MR;Tolvaptan MR;Tolvaptan IR;Tolvaptan MR
49 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
50 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy

Search NIH Clinical Center for Polycystic Kidney Disease

Genetic Tests for Polycystic Kidney Disease

Anatomical Context for Polycystic Kidney Disease

MalaCards organs/tissues related to Polycystic Kidney Disease:

41
Kidney, Liver, Endothelial, Smooth Muscle, Bone, Testes, Heart

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 2392)
# Title Authors Year
1
Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease. ( 30510609 )
2019
2
Increased excitatory regulation of the hypothalamic paraventricular nucleus and circulating vasopressin results in the hypertension observed in polycystic kidney disease. ( 30015755 )
2019
3
Endovascular treatment of cerebral aneurysm after renal transplantation in polycystic kidney disease. ( 29444616 )
2018
4
Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. ( 29899465 )
2018
5
Recommendations for Diagnostic and Prognostic Evaluation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with a Focus on Imaging. ( 29382260 )
2018
6
Outcome of autosomal dominant polycystic kidney disease patients on peritoneal dialysis: a national retrospective study based on two French registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network). ( 29361078 )
2018
7
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. ( 29423204 )
2018
8
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29394475 )
2018
9
Should kidney volume be used as an indicator of surgical occasion for patients with autosomal dominant polycystic kidney disease? ( 29979446 )
2018
10
A case of congenital left ventricular diverticulum in a patient with autosomal dominant polycystic kidney disease: possible mechanistic link between polycystin and ventricular diverticulum. ( 29876750 )
2018
11
Effect of Sirolimus on Native Total Kidney Volume After Transplantation in Patients with Autosomal Dominant Polycystic Kidney Disease: A Randomized Controlled Pilot Study. ( 29880342 )
2018
12
REPRISE: tolvaptan in advanced polycystic kidney disease. ( 29389391 )
2018
13
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29385372 )
2018
14
Optimal equation for estimation of glomerular filtration rate in autosomal dominant polycystic kidney disease: influence of tolvaptan. ( 29789986 )
2018
15
Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. ( 29874928 )
2018
16
Autosomal Dominant Polycystic Kidney Disease and Hypertension Masquerading Primary Aldosteronism. ( 29861570 )
2018
17
3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease. ( 29306987 )
2018
18
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report. ( 29973168 )
2018
19
Volume Reduction in Enlarged Kidneys in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Prior to Renal Transplant with Transcatheter Arterial Embolization (TAE): A Systematic Review and Meta-Analysis. ( 29388019 )
2018
20
Nutritional therapy in autosomal dominant polycystic kidney disease. ( 29344814 )
2018
21
Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection. ( 29378535 )
2018
22
Outcomes of renal transplant from donors with polycystic kidney disease. ( 29425828 )
2018
23
Baseline Characteristics of the Autosomal Dominant Polycystic Kidney Disease Subcohort of the KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease (KNOW-CKD). ( 29797773 )
2018
24
End-Stage Kidney Disease in Patients With Autosomal Dominant Polycystic Kidney Disease: A 12-Year Study Based on the Canadian Organ Replacement Registry. ( 29977583 )
2018
25
A case of a maintenance hemodialysis patient with autosomal dominant polycystic kidney disease who underwent living donor liver transplantation alone due to refractory liver cyst infection. ( 29956096 )
2018
26
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials. ( 29306517 )
2018
27
Femoral Neuropathy Secondary to Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 29961749 )
2018
28
Obturator hernia in autosomal dominant polycystic kidney disease. ( 29971214 )
2018
29
Osmoregulation in Polycystic Kidney Disease: Relationship with Cystogenesis and Hypertension. ( 29925070 )
2018
30
The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition. ( 29338003 )
2018
31
Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease. ( 29420817 )
2018
32
Polycystic kidney disease: a Hippo connection. ( 29921661 )
2018
33
Longitudinal Assessment of Left Ventricular Mass in Autosomal Dominant Polycystic Kidney Disease. ( 29854969 )
2018
34
Incidental Detection of Peri-Renal Hemorrhage on F-18 FDG PET/CT Imaging in a Patient with Polycystic Kidney Disease. ( 29942405 )
2018
35
Randomised controlled trial to determine the efficacy and safety of prescribed water intake to prevent kidney failure due to autosomal dominant polycystic kidney disease (PREVENT-ADPKD). ( 29358433 )
2018
36
A case of unilateral nephrectomy performed for autosomal dominant polycystic kidney disease with marked unilateral enlargement. ( 29388169 )
2018
37
A patient with polycystic kidney disease, hepatic cysts and atrial myxoma. ( 29970753 )
2018
38
Outcomes of Patients with Autosomal Dominant Polycystic Kidney Disease on Peritoneal Dialysis: A Meta-Analysis. ( 29952039 )
2018
39
A potential strategy for reducing cysts in autosomal dominant polycystic kidney disease with a CFTR corrector. ( 29875161 )
2018
40
Serum Fas Ligand, Serum Myostatin and Urine TGF-I^1 Are Elevated in Autosomal Dominant Polycystic Kidney Disease Patients with Impaired and Preserved Renal Function. ( 29794429 )
2018
41
Hepatopleural Fistula with Empyema Thoracis: A Rare Complication of Autosomal Dominant Polycystic Kidney Disease. ( 29379816 )
2018
42
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice. ( 29915780 )
2018
43
A RhoA-YAP-c-Myc signaling axis promotes the development of polycystic kidney disease. ( 29891559 )
2018
44
Ganetespib limits ciliation and cystogenesis in autosomal-dominant polycystic kidney disease (ADPKD). ( 29401581 )
2018
45
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene. ( 29860066 )
2018
46
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29394474 )
2018
47
Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations. ( 29430193 )
2018
48
A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model. ( 29439650 )
2018
49
Arterial stiffness may predict renal and cardiovascular prognosis in autosomal-dominant polycystic kidney disease. ( 29975128 )
2018
50
A Randomized Clinical Trial of Metformin to Treat Autosomal Dominant Polycystic Kidney Disease. ( 29779024 )
2018

Variations for Polycystic Kidney Disease

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 cell projection GO:0042995 9.91 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKD2L1
2 motile cilium GO:0031514 9.63 IFT88 PKD1 PKD2
3 ciliary basal body GO:0036064 9.62 DZIP1L IFT88 PKD2 PKHD1
4 ciliary membrane GO:0060170 9.46 PKD1 PKD1L1 PKD2 PKD2L1
5 calcium channel complex GO:0034704 9.43 PKD1L1 PKD2L1
6 cation channel complex GO:0034703 9.4 PKD1L3 PKD2L1
7 polycystin complex GO:0002133 9.26 PKD1 PKD2
8 non-motile cilium GO:0097730 9.26 IFT88 PKD1L1 PKD2 PKD2L1
9 cilium GO:0005929 9.17 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKD2L1

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 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2
2 cilium assembly GO:0060271 9.83 DZIP1L IFT88 NEK1 PKHD1
3 cell-cell adhesion GO:0098609 9.76 PKD1 PKD1L1 PKHD1
4 calcium ion transport GO:0006816 9.65 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1
5 JAK-STAT cascade GO:0007259 9.59 PKD1 PKD2
6 embryonic placenta development GO:0001892 9.58 PKD1 PKD2
7 renal system development GO:0072001 9.57 PKD1 PKD2
8 placenta blood vessel development GO:0060674 9.56 PKD1 PKD2
9 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
10 cytoplasmic sequestering of transcription factor GO:0042994 9.55 PKD1 PKD2
11 kidney development GO:0001822 9.55 IFT88 PKD1 PKD1L3 PKD2 PKHD1
12 cellular response to acidic pH GO:0071468 9.54 PKD1L3 PKD2L1
13 mesonephric tubule development GO:0072164 9.51 PKD1 PKD2
14 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.49 PKD1 PKD2
15 mesonephric duct development GO:0072177 9.48 PKD1 PKD2
16 sensory perception of sour taste GO:0050915 9.46 PKD1L3 PKD2L1
17 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
18 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.4 PKD1L3 PKD2L1
19 detection of nodal flow GO:0003127 9.37 PKD1L1 PKD2
20 detection of mechanical stimulus GO:0050982 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1

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 9.8 PKD1L2 PKD2 PKD2L1 PKD2L2 PKDREJ
2 carbohydrate binding GO:0030246 9.46 GANAB PKD1 PKD1L2 PKD1L3
3 cation channel activity GO:0005261 9.43 PKD1L3 PKD2L1
4 alpha-actinin binding GO:0051393 9.37 PKD2 PKD2L1
5 cation transmembrane transporter activity GO:0008324 9.32 PKD1L3 PKD2L1
6 muscle alpha-actinin binding GO:0051371 9.26 PKD2 PKD2L1
7 calcium channel activity GO:0005262 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
8 sour taste receptor activity GO:0033040 8.96 PKD1L3 PKD2L1

Sources for Polycystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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