MCID: PLY014
MIFTS: 60

Polycystic Kidney Disease

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

Aliases & Classifications for Polycystic Kidney Disease

MalaCards integrated aliases for Polycystic Kidney Disease:

Name: Polycystic Kidney Disease 76 53 25 37
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:

KEGG 37 H00542
UMLS 73 C0085413

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 3 with or without polycystic liver disease and polycystic kidney disease, infantile severe, with tuberous sclerosis. An important gene associated with Polycystic Kidney Disease is MIR17 (MicroRNA 17
To identify the possible microRNAs (miRNAs) which target the polycystic kidney disease-2 gene (PKD2), and clarify effects of the miRNAs on PKD2. We preliminarily used bioinformatics to analyze 3'UTR (3'untranslated regions) of PKD1 and PKD2 in order to predict the potential microRNAs targeted on them. Subsequently, the stable cell lines with overexpression of microRNA-17 (miR-17) were screened, and luciferase assay combined with the mutation 3'UTR of PKD2 were performed to verify PKD2 is the target of miR-17. Moreover, RT-PCR and Western Blotting were used to determine the post-transcriptionally regulation of PKD2 by miR-17. Finally, MTT cell assays allied with PKD2 rescued strategy were employed to evaluate cell proliferation effects. Our study firstly found that the 3'UTR of PKD2 was more conservation than that of PKD1, and microRNA-17 directly targets the 3'UTR of PKD2 and post-transcriptionally repress the expression of PKD2. Moreover, our findings also demonstrated that overexpression of miR-17 may promote cell proliferation via post-transcriptionally repression of PKD2 in HEK 293T. This suggested that microRNA might be a novel mechanism for cystogenesis as well as a potential therapeutic target for the cell proliferation of autosomal dominant polycystic kidney disease (ADPKD).). The drugs Cilnidipine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are endocrine/exocrine gland and liver/biliary system

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 237)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 34.2 GANAB PKD1 PKD2 PKDREJ
2 polycystic kidney disease, infantile severe, with tuberous sclerosis 34.1 PKD1 TSC2
3 polycystic kidney disease 4 with or without polycystic liver disease 32.9 DZIP1L IFT88 PKD1 PKD2 PKDREJ PKHD1
4 caroli disease 32.8 PKD1 PKHD1
5 polycystic kidney disease 2 with or without polycystic liver disease 32.7 IFT88 PKD1 PKD1L1 PKD1L2 PKD2 PKD2L1
6 polycystic kidney disease 1 with or without polycystic liver disease 32.7 ENPP1 PKD1 PKD2 PKDREJ PKHD1 TSC2
7 orofaciodigital syndrome i 32.5 IFT88 PKDREJ
8 autosomal dominant polycystic kidney disease 31.5 GANAB HAX1 PKD1 PKD1P1 PKD2 PKD2L1
9 cystic kidney disease 31.4 IFT88 PKD1 PKD2 PKHD1 TSC2
10 polycystic liver disease 31.4 GANAB MIR15A PKD1 PKD2 PKDREJ PKHD1
11 congenital hepatic fibrosis 30.8 PKD1 PKHD1
12 polycystic liver disease 1 with or without kidney cysts 30.8 ENPP1 PKD1 PKD2 PKHD1 TSC2
13 multicystic dysplastic kidney 30.4 PKD1 PKD2
14 kidney disease 29.3 DZIP1L IFT88 PKD1 PKD1L1 PKD1L2 PKD1L3
15 polycystic kidney disease 5 12.4
16 polycystic kidney disease 4 12.3
17 gillessen-kaesbach-nishimura syndrome 11.7
18 nephronophthisis 11.3
19 orofaciodigital syndrome 11.2
20 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.9
21 nephronophthisis 14 10.9
22 potter's syndrome 10.9
23 lymphatic malformations 10.7 PKD1 PKD2
24 aneurysm 10.5
25 hepatitis 10.5
26 visceral heterotaxy 10.4 PKD1L1 PKD2 PKDREJ
27 intracranial aneurysm 10.3
28 liver disease 10.3
29 endotheliitis 10.3
30 tuberous sclerosis 10.3
31 peritonitis 10.2
32 renal cell carcinoma, nonpapillary 10.1
33 chronic kidney failure 10.1
34 nephrolithiasis 10.1
35 iga glomerulonephritis 10.1
36 aortic aneurysm 10.1
37 cystic fibrosis 10.0
38 glomerulonephritis 10.0
39 type i 10.0
40 diabetes mellitus 10.0
41 pyelonephritis 10.0
42 nephrotic syndrome 10.0
43 retinitis 10.0
44 situs inversus 10.0
45 diabetes mellitus, noninsulin-dependent 9.9
46 marfan syndrome 9.9
47 tuberous sclerosis 1 9.9
48 renal hypodysplasia/aplasia 1 9.9
49 alport syndrome, x-linked 9.9
50 aging 9.9

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

MGI Mouse Phenotypes related to Polycystic Kidney Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.86 DZIP1L HAX1 IFT88 NEK1 PKD1 PKD2
2 liver/biliary system MP:0005370 9.7 DZIP1L ENPP1 IFT88 PKD1 PKD2 PKHD1
3 nervous system MP:0003631 9.65 ENPP1 HAX1 IFT88 NEK1 PKD1 PKD1L1
4 renal/urinary system MP:0005367 9.28 TSC2 DZIP1L ENPP1 IFT88 NEK1 PKD1

Drugs & Therapeutics for Polycystic Kidney Disease

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

(show top 50) (show all 152)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilnidipine Approved, Investigational Phase 4,Phase 2 132203-70-4 5282138
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
3
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 159351-69-6 6442177
4
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
5
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
6
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53123-88-9 5284616 6436030 46835353
7
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
8
Curcumin Approved, Investigational Phase 4 458-37-7 969516
9
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
10
Tacrolimus Approved, Investigational Phase 4,Not Applicable 104987-11-3 445643 439492
11
Mycophenolic acid Approved Phase 4,Not Applicable 24280-93-1 446541
12
Mycophenolate mofetil Approved, Investigational Phase 4,Not Applicable 128794-94-5 5281078
13
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
14
Prednisone Approved, Vet_approved Phase 4,Not Applicable 53-03-2 5865
15
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
16 calcium channel blockers Phase 4,Phase 3,Phase 2
17 Adrenergic Agents Phase 4,Not Applicable
18 Adrenergic alpha-Antagonists Phase 4
19 Adrenergic Antagonists Phase 4
20 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
21 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
22 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
23 Angiotensinogen Phase 4,Phase 3,Phase 2
24 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Early Phase 1
27 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Calcineurin Inhibitors Phase 4,Phase 3,Not Applicable
31 Calcium, Dietary Phase 4,Phase 3,Phase 2
32 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Not Applicable
33 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
34 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
36 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Not Applicable
38 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
39 Anticholesteremic Agents Phase 4,Phase 3,Not Applicable
40 Protective Agents Phase 4,Phase 3,Phase 2
41 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
42 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
43 Autonomic Agents Phase 4,Phase 2,Not Applicable
44 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
45 Analgesics Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 Anti-Inflammatory Agents Phase 4,Not Applicable
48 Anti-Inflammatory Agents, Non-Steroidal Phase 4
49 Antirheumatic Agents Phase 4
50 Prednisolone acetate Phase 4

Interventional clinical trials:

(show top 50) (show all 115)
# 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 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4 Curcumin
4 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
5 Prednisone Withdrawal Versus Prednisone Maintenance After Kidney Transplant Terminated NCT00596947 Phase 4 prednisone;rabbit antithymocyte globulin;Tacrolimus;Prednisone;Mycophenolate mofetil;Mycophenolate mofetil
6 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Unknown status NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
7 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
8 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
9 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
10 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
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 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
13 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Completed NCT01377246 Phase 3 Octreotide-LAR
14 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
15 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
16 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
17 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
18 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
19 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
20 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
21 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
22 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
23 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
24 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
25 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
26 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
27 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
28 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02251275 Phase 3 Tolvaptan (OPC-41061)
29 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
30 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
31 Study of Efficacy, Safety, Tolerability and Pharmacokinetics of GZ/SAR402671 in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Not yet recruiting NCT03523728 Phase 3 Venglustat GZ/SAR402671;Placebo
32 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
33 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
34 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
35 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
36 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
37 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
38 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
39 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
40 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
41 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
42 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
43 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
44 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
45 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
46 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
47 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
48 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02656017 Phase 2 Metformin
49 Feasibility Study of Metformin Therapy in ADPKD Recruiting NCT02903511 Phase 2 Metformin;Placebo
50 Study of the Efficacy and Safety of Tesevatinib in Subjects With ADPKD Recruiting NCT03203642 Phase 2 Tesevatinib;Placebo

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, Prostate, Heart

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 1400)
# Title Authors Year
1
Endovascular treatment of cerebral aneurysm after renal transplantation in polycystic kidney disease. ( 29444616 )
2018
2
Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. ( 29899465 )
2018
3
Recommendations for Diagnostic and Prognostic Evaluation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with a Focus on Imaging. ( 29382260 )
2018
4
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
5
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. ( 29423204 )
2018
6
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29394475 )
2018
7
Should kidney volume be used as an indicator of surgical occasion for patients with autosomal dominant polycystic kidney disease? ( 29979446 )
2018
8
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
9
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
10
REPRISE: tolvaptan in advanced polycystic kidney disease. ( 29389391 )
2018
11
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29385372 )
2018
12
Optimal equation for estimation of glomerular filtration rate in autosomal dominant polycystic kidney disease: influence of tolvaptan. ( 29789986 )
2018
13
Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. ( 29874928 )
2018
14
Autosomal Dominant Polycystic Kidney Disease and Hypertension Masquerading Primary Aldosteronism. ( 29861570 )
2018
15
3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease. ( 29306987 )
2018
16
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report. ( 29973168 )
2018
17
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
18
Nutritional therapy in autosomal dominant polycystic kidney disease. ( 29344814 )
2018
19
Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection. ( 29378535 )
2018
20
Outcomes of renal transplant from donors with polycystic kidney disease. ( 29425828 )
2018
21
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
22
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
23
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
24
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials. ( 29306517 )
2018
25
Femoral Neuropathy Secondary to Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 29961749 )
2018
26
Obturator hernia in autosomal dominant polycystic kidney disease. ( 29971214 )
2018
27
Osmoregulation in Polycystic Kidney Disease: Relationship with Cystogenesis and Hypertension. ( 29925070 )
2018
28
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
29
Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease. ( 29420817 )
2018
30
Polycystic kidney disease: a Hippo connection. ( 29921661 )
2018
31
Longitudinal Assessment of Left Ventricular Mass in Autosomal Dominant Polycystic Kidney Disease. ( 29854969 )
2018
32
Incidental Detection of Peri-Renal Hemorrhage on F-18 FDG PET/CT Imaging in a Patient with Polycystic Kidney Disease. ( 29942405 )
2018
33
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
34
A case of unilateral nephrectomy performed for autosomal dominant polycystic kidney disease with marked unilateral enlargement. ( 29388169 )
2018
35
A patient with polycystic kidney disease, hepatic cysts and atrial myxoma. ( 29970753 )
2018
36
Outcomes of Patients with Autosomal Dominant Polycystic Kidney Disease on Peritoneal Dialysis: A Meta-Analysis. ( 29952039 )
2018
37
A potential strategy for reducing cysts in autosomal dominant polycystic kidney disease with a CFTR corrector. ( 29875161 )
2018
38
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
39
Hepatopleural Fistula with Empyema Thoracis: A Rare Complication of Autosomal Dominant Polycystic Kidney Disease. ( 29379816 )
2018
40
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice. ( 29915780 )
2018
41
A RhoA-YAP-c-Myc signaling axis promotes the development of polycystic kidney disease. ( 29891559 )
2018
42
Ganetespib limits ciliation and cystogenesis in autosomal-dominant polycystic kidney disease (ADPKD). ( 29401581 )
2018
43
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene. ( 29860066 )
2018
44
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29394474 )
2018
45
Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations. ( 29430193 )
2018
46
A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model. ( 29439650 )
2018
47
Arterial stiffness may predict renal and cardiovascular prognosis in autosomal-dominant polycystic kidney disease. ( 29975128 )
2018
48
A Randomized Clinical Trial of Metformin to Treat Autosomal Dominant Polycystic Kidney Disease. ( 29779024 )
2018
49
Early cardiovascular manifestations in children and adolescents with autosomal dominant polycystic kidney disease: a single center study. ( 29774463 )
2018
50
Urinary exosomal expression of activator of G protein signaling 3 in polycystic kidney disease. ( 29880041 )
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 9.95 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKD2L1
2 ciliary basal body GO:0036064 9.67 DZIP1L IFT88 PKD2 PKHD1
3 motile cilium GO:0031514 9.61 IFT88 PKD1 PKD2
4 non-motile cilium GO:0097730 9.5 PKD1L1 PKD2 PKD2L1
5 calcium channel complex GO:0034704 9.46 PKD1L1 PKD2L1
6 polycystin complex GO:0002133 9.26 PKD1 PKD2
7 ciliary membrane GO:0060170 9.26 PKD1 PKD1L1 PKD2 PKD2L1
8 cilium GO:0005929 9.17 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKD2L1
9 cation channel complex GO:0034703 9.16 PKD1L3 PKD2L1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.84 DZIP1L IFT88 NEK1 PKHD1
2 ion transport GO:0006811 9.8 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2
3 cell cycle arrest GO:0007050 9.77 PKD1 PKD2 TSC2
4 cell-cell adhesion GO:0098609 9.74 PKD1 PKD1L1 PKHD1
5 kidney development GO:0001822 9.71 PKD1 PKD1L3 PKD2 PKHD1
6 JAK-STAT cascade GO:0007259 9.6 PKD1 PKD2
7 embryonic placenta development GO:0001892 9.58 PKD1 PKD2
8 renal system development GO:0072001 9.58 PKD1 PKD2
9 placenta blood vessel development GO:0060674 9.56 PKD1 PKD2
10 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
11 cytoplasmic sequestering of transcription factor GO:0042994 9.55 PKD1 PKD2
12 calcium ion transport GO:0006816 9.55 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1
13 cellular response to acidic pH GO:0071468 9.52 PKD1L3 PKD2L1
14 mesonephric tubule development GO:0072164 9.51 PKD1 PKD2
15 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
16 mesonephric duct development GO:0072177 9.48 PKD1 PKD2
17 sensory perception of sour taste GO:0050915 9.46 PKD1L3 PKD2L1
18 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
19 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.37 PKD1L3 PKD2L1
20 detection of nodal flow GO:0003127 9.32 PKD1L1 PKD2
21 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 9.63 ENPP1 PKD1L2 PKD2 PKD2L1 PKD2L2 PKDREJ
2 carbohydrate binding GO:0030246 9.56 GANAB PKD1 PKD1L2 PKD1L3
3 alpha-actinin binding GO:0051393 9.4 PKD2 PKD2L1
4 muscle alpha-actinin binding GO:0051371 9.37 PKD2 PKD2L1
5 cation transmembrane transporter activity GO:0008324 9.32 PKD1L3 PKD2L1
6 calcium channel activity GO:0005262 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
7 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
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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