MCID: PLY014
MIFTS: 60

Polycystic Kidney Disease

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

Aliases & Classifications for Polycystic Kidney Disease

MalaCards integrated aliases for Polycystic Kidney Disease:

Name: Polycystic Kidney Disease 72 49 24 36
Polycystic Kidney Diseases 51 69
Pkd 49 24
Autosomal Dominant Polycystic Kidney Disease 49
Polycystic Kidney, Autosomal Dominant 69
Polycystic Renal Disease 24
Polycystic Kidneys 49
Adpkd 49

Classifications:



External Ids:

KEGG 36 H00542
UMLS 69 C0085413

Summaries for Polycystic Kidney Disease

NIH Rare Diseases : 49 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. Last updated: 12/8/2011

MalaCards based summary : Polycystic Kidney Disease, also known as polycystic kidney diseases, is related to polycystic kidney disease 5 and polycystic kidney disease 4 with or without hepatic disease. An important gene associated with Polycystic Kidney Disease is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel). The drugs Angiotensin II and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are digestive/alimentary and endocrine/exocrine gland

Genetics Home Reference : 24 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.

Related Diseases for Polycystic Kidney Disease

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 1 Polycystic Kidney Disease 3
Polycystic Kidney Disease 2 Polycystic Kidney Disease 5
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 234)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 5 33.8 DZIP1L PKD1 PKD2 PKHD1
2 polycystic kidney disease 4 with or without hepatic disease 33.8 IFT88 PKD1 PKD2 PKDREJ PKHD1
3 polycystic kidney disease 3 33.6 GANAB PKD1 PKD2 PKDREJ
4 caroli disease 32.7 PKD1 PKHD1
5 polycystic kidney disease 1 32.5 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD1P1 PKD2
6 polycystic liver disease 1 32.3 PKD1 PKD2 PKHD1
7 orofaciodigital syndrome i 32.2 IFT88 PKDREJ
8 nephronophthisis 32.0 PKD1 PKD2 PKHD1
9 polycystic kidney disease 2 31.9 HAX1 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1
10 cystic kidney disease 31.9 IFT88 PKD1 PKD2 PKHD1
11 polycystic liver disease 31.6 GANAB PKD1 PKD2 PKDREJ PKHD1
12 autosomal dominant polycystic kidney disease 31.4 GANAB HAX1 PKD1 PKD1P1 PKD2 PKD2L1
13 congenital hepatic fibrosis 31.0 PKD1 PKHD1
14 kidney disease 28.8 DZIP1L IFT88 PKD1 PKD1L1 PKD1L2 PKD1L3
15 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.4
16 gillessen-kaesbach-nishimura syndrome 11.7
17 episodic kinesigenic dyskinesia 1 11.2
18 orofaciodigital syndrome 11.2
19 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.9
20 nephronophthisis 14 10.9
21 potter's syndrome 10.9
22 aneurysm 10.5
23 fibrosis of extraocular muscles, congenital, 1 10.5
24 hepatitis 10.4
25 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.4 PKD1 PKD2
26 lymphatic malformations 10.4 PKD1 PKD2
27 liver disease 10.3
28 intracranial aneurysm 10.3
29 endotheliitis 10.3
30 tuberous sclerosis 10.2
31 peritonitis 10.2
32 bardet-biedl syndrome 17 10.2 PKD1 PKD2
33 renal cell carcinoma, nonpapillary 10.1
34 episodic pain syndrome, familial, 1 10.1
35 visceral heterotaxy 10.1 PKD1L1 PKD2 PKDREJ
36 chronic kidney failure 10.1
37 nephrolithiasis 10.1
38 aortic aneurysm 10.1
39 autosomal genetic disease 10.1 PKD1 PKD2 PKDREJ PKHD1
40 cystic fibrosis 10.0
41 glomerulonephritis 10.0
42 renal-hepatic-pancreatic dysplasia 10.0 PKDREJ PKHD1
43 diabetes mellitus 10.0
44 pyelonephritis 10.0
45 nephrotic syndrome 10.0
46 retinitis 10.0
47 situs inversus 10.0
48 marfan syndrome 9.9
49 tuberous sclerosis 1 9.9
50 renal hypodysplasia/aplasia 1 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKHD1
2 endocrine/exocrine gland MP:0005379 9.5 DZIP1L HAX1 IFT88 NEK1 PKD1 PKD2
3 renal/urinary system MP:0005367 9.17 PKD2 PKHD1 DZIP1L 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 149)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Cilnidipine Approved, Investigational Phase 4,Phase 2 132203-70-4 5282138
4
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
5
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
6
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
7
Curcumin Approved, Investigational Phase 4 458-37-7 969516
8
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
9
Mycophenolic acid Approved Phase 4 24280-93-1 446541
10
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
13
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
14
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
15
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
16 calcium channel blockers Phase 4,Phase 3,Phase 2
17 Adrenergic Agents Phase 4
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
25 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Early Phase 1
28 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
30 Calcineurin Inhibitors Phase 4,Phase 3
31 Calcium, Dietary Phase 4,Phase 3,Phase 2
32 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
33 Hormone Antagonists Phase 4,Phase 3,Phase 2
34 Hormones Phase 4,Phase 3,Phase 2
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
36 Peripheral Nervous System Agents Phase 4,Phase 2
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
38 Anticholesteremic Agents Phase 4,Phase 3
39 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
40 Antimetabolites Phase 4,Phase 3,Phase 2
41 Protective Agents Phase 4,Phase 3,Phase 2
42 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
43 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
44 Autonomic Agents Phase 4,Phase 2
45 Analgesics Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 Anti-Inflammatory Agents Phase 4
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 110)

# 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 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3 Tolvaptan
28 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
29 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)
30 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
31 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
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 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
45 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
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 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Recruiting NCT02558595 Phase 2
50 Feasibility Study of Metformin Therapy in ADPKD Recruiting NCT02903511 Phase 2 Metformin;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:

38
Kidney, Liver, Endothelial, Smooth Muscle, Bone, Prostate, Heart

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 1301)
# Title Authors Year
1
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
2
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
3
3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease. ( 29306987 )
2018
4
Endovascular treatment of cerebral aneurysm after renal transplantation in polycystic kidney disease. ( 29444616 )
2018
5
A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model. ( 29439650 )
2018
6
Nutritional therapy in autosomal dominant polycystic kidney disease. ( 29344814 )
2018
7
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29394475 )
2018
8
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
9
A case of unilateral nephrectomy performed for autosomal dominant polycystic kidney disease with marked unilateral enlargement. ( 29388169 )
2018
10
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. ( 29423204 )
2018
11
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29394474 )
2018
12
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials. ( 29306517 )
2018
13
Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease. ( 29420817 )
2018
14
Ganetespib limits ciliation and cystogenesis in autosomal-dominant polycystic kidney disease (ADPKD). ( 29401581 )
2018
15
Tolvaptan in Later-Stage Polycystic Kidney Disease. ( 29385372 )
2018
16
Recommendations for Diagnostic and Prognostic Evaluation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with a Focus on Imaging. ( 29382260 )
2018
17
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
18
Outcomes of renal transplant from donors with polycystic kidney disease. ( 29425828 )
2018
19
Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations. ( 29430193 )
2018
20
Hepatopleural Fistula with Empyema Thoracis: A Rare Complication of Autosomal Dominant Polycystic Kidney Disease. ( 29379816 )
2018
21
REPRISE: tolvaptan in advanced polycystic kidney disease. ( 29389391 )
2018
22
Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection. ( 29378535 )
2018
23
Urinary renin-angiotensin markers in polycystic kidney disease. ( 28747358 )
2017
24
A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome-Review of the Literature. ( 28638817 )
2017
25
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family. ( 28827396 )
2017
26
Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease. ( 28870863 )
2017
27
Distinct effects of dietary flax compared to fish oil, soy protein compared to casein, and sex on the renal oxylipin profile in models of polycystic kidney disease. ( 28838555 )
2017
28
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. ( 28638261 )
2017
29
Histone deacetylase 6 Inhibition reduces cysts by decreasing via cAMP and Ca2+ in knockout mouse models of polycystic kidney disease. ( 28887310 )
2017
30
Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease. ( 28792715 )
2017
31
Effectiveness of Peritoneal Dialysis in Treating Adult End Stage Renal Disease Patients with Polycystic Kidney Disease. ( 28877825 )
2017
32
Role of Urinary Neutrophil Gelatinase-Associated Lipocalin for Predicting the Severity of Renal Functions in Patients With Autosomal-Dominant Polycystic Kidney Disease. ( 28583565 )
2017
33
Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study. ( 28915698 )
2017
34
Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease. ( 28509123 )
2017
35
Acute aortic syndrome in autosomal dominant polycystic kidney disease. ( 28087011 )
2017
36
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
37
Focal segmental glomerulosclerosis in atypical polycystic kidney disease. ( 28063418 )
2017
38
Effect of tolvaptan on renal handling of water and sodium, GFR and central hemodynamics in autosomal dominant polycystic kidney disease during inhibition of the nitric oxide system: a randomized, placebo-controlled, double blind, crossover study. ( 28810844 )
2017
39
Kidney dysfunction following adrenalectomy in autosomal dominant polycystic kidney disease complicated with primary aldosteronism: A case report. ( 28810583 )
2017
40
The Longitudinal Study of Liver Cysts inA Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease. ( 29142941 )
2017
41
Heterozygosity analysis of polycystic kidney disease 1 gene microsatellite markers for linkage analysis of autosomal dominant polycystic kidney disease type 1 in the Iranian population. ( 29026418 )
2017
42
Relationship between intracranial aneurysms and the severity of autosomal dominant polycystic kidney disease. ( 28884237 )
2017
43
Insights into cellular and molecular basis for urinary tract infection in autosomal dominant polycystic kidney disease. ( 28794066 )
2017
44
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. ( 28083701 )
2017
45
The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians. ( 29326913 )
2017
46
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, andA Prognosis. ( 28356211 )
2017
47
Total kidney and liver volume is a major risk factor for malnutrition in ambulatory patients with autosomal dominant polycystic kidney disease. ( 28088190 )
2017
48
Polycystic kidney disease is significantly associated with dementia risk. ( 28855402 )
2017
49
Congenital Hepatic Fibrosis with Polycystic Kidney Disease: An Unusual Cause of Neonatal Cholestasis. ( 28737145 )
2017
50
Anesthetic management in a patient of autosomal dominant polycystic kidney disease with end stage renal disease undergoing endovascular coiling for multiple intracranial aneurysms. ( 28781456 )
2017

Variations for Polycystic Kidney Disease

ClinVar genetic disease variations for Polycystic Kidney Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD2 NM_000297.3(PKD2): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs1060503526 GRCh38 Chromosome 4, 88038380: 88038380
2 PKD2 NM_000297.3(PKD2): c.1319+1G> A single nucleotide variant Pathogenic rs1131692280 GRCh37 Chromosome 4, 88964610: 88964610
3 PKD2 NM_000297.3(PKD2): c.514delG (p.Asp172Thrfs) deletion Pathogenic GRCh37 Chromosome 4, 88929399: 88929399
4 PKD2 NC_000004.12: g.(?_88007714)_(88058123_?)del deletion Pathogenic GRCh38 Chromosome 4, 88007714: 88058123
5 PKD2 NM_000297.3(PKD2): c.1579_1580delTA (p.Tyr527Glnfs) deletion Pathogenic GRCh38 Chromosome 4, 88052021: 88052022
6 PKD2 NM_000297.3(PKD2): c.1774C> T (p.Arg592Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 88977295: 88977295
7 PKD2 NM_000297.3(PKD2): c.203dup (p.Ala69Glyfs) duplication Pathogenic GRCh38 Chromosome 4, 88007936: 88007936

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 9.7 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKD2L1
2 motile cilium GO:0031514 9.61 IFT88 PKD1 PKD2
3 ciliary basal body GO:0036064 9.56 DZIP1L IFT88 PKD2 PKHD1
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 9.4 PKD1 PKD2
7 cation channel complex GO:0034703 9.37 PKD1L3 PKD2L1
8 ciliary membrane GO:0060170 9.26 PKD1 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 22)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.8 DZIP1L IFT88 NEK1 PKHD1
2 ion transport GO:0006811 9.8 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2
3 cell-cell adhesion GO:0098609 9.74 PKD1 PKD1L1 PKHD1
4 kidney development GO:0001822 9.62 PKD1 PKD1L3 PKD2 PKHD1
5 spinal cord development GO:0021510 9.61 PKD1 PKD2
6 JAK-STAT cascade GO:0007259 9.6 PKD1 PKD2
7 embryonic placenta development GO:0001892 9.59 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 9.54 PKD1L3 PKD2L1
14 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.52 PKD1 PKD2
15 mesonephric tubule development GO:0072164 9.51 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 nodal flow GO:0003127 9.4 PKD1L1 PKD2
20 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.37 PKD1L3 PKD2L1
21 detection of mechanical stimulus GO:0050982 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
22 transport GO:0006810 10.12 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2

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 9.77 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 9.4 PKD2 PKD2L1
5 muscle alpha-actinin binding GO:0051371 9.32 PKD2 PKD2L1
6 cation transmembrane transporter activity GO:0008324 9.26 PKD1L3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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