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 77 54 26 38 15 17
Polycystic Kidney Diseases 56 74
Pkd 54 26
Autosomal Dominant Polycystic Kidney Disease 54
Polycystic Kidney, Autosomal Dominant 74
Kidney Disease, Polycystic 41
Polycystic Renal Disease 26
Polycystic Kidneys 54
Adpkd 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0080322
KEGG 38 H00542

Summaries for Polycystic Kidney Disease

NIH Rare Diseases : 54 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 4 with or without polycystic liver disease. An important gene associated with Polycystic Kidney Disease is MIR17 (MicroRNA 17). The drugs Angiotensin II and Candesartan cilexetil 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 : 26 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 : 77 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 392)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 34.5 GANAB PKD1 PKD2 PRKD1
2 polycystic kidney disease 4 with or without polycystic liver disease 34.5 DZIP1L IFT88 PKD1 PKD2 PKHD1 PRKD1
3 polycystic kidney disease 1 with or without polycystic liver disease 34.5 IFT88 PKD1 PKD2 PKD2L1 PKHD1 PRKD1
4 polycystic kidney disease 2 with or without polycystic liver disease 34.0 GANAB IFT88 PKD1 PKD1L1 PKD2 PKD2L1
5 autosomal dominant polycystic kidney disease 33.9 GANAB HAX1 LRP5 PKD1 PKD1P1 PKD2
6 caroli disease 32.9 PKD1 PKHD1
7 polycystic liver disease 1 with or without kidney cysts 32.6 LRP5 PKD1 PKD2 PKHD1
8 cystic kidney disease 32.4 IFT88 PKD1 PKD2 PKD2L1 PKHD1 PRKD1
9 polycystic liver disease 32.3 GANAB LRP5 MIR15A PKD1 PKD2 PKHD1
10 kidney disease 31.8 DZIP1L GANAB IFT88 NEK1 PKD1 PKD1L1
11 liver disease 31.1 GANAB LRP5 PKD1 PKD2 PKHD1
12 congenital hepatic fibrosis 31.0 PKD1 PKHD1
13 multicystic dysplastic kidney 30.3 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 12.5
18 polycystic kidney, cataract, and congenital blindness 12.2
19 gillessen-kaesbach-nishimura syndrome 11.9
20 diabetes mellitus, neonatal, with congenital hypothyroidism 11.7
21 orofaciodigital syndrome i 11.5
22 medullary cystic kidney disease 1 11.4
23 nephronophthisis 11.4
24 episodic kinesigenic dyskinesia 1 11.4
25 orofaciodigital syndrome 11.4
26 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
27 pyruvate kinase deficiency of red cells 11.1
28 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.1
29 nephronophthisis 14 11.1
30 potter's syndrome 11.1
31 acrorenal syndrome 11.1
32 hypertelorism, teebi type 11.1
33 campomelia, cumming type 11.1
34 bardet-biedl syndrome 12 11.1
35 arterial calcification of infancy 11.1
36 paroxysmal exertion-induced dyskinesia 11.0
37 dengue hemorrhagic fever 10.5
38 chronic interstitial cystitis 10.5
39 tuberous sclerosis 10.5
40 renal cell carcinoma, nonpapillary 10.5
41 lymphatic malformations 10.4 PKD1 PKD2
42 chronic kidney failure 10.4
43 end stage renal failure 10.4
44 cerebral aneurysms 10.4
45 nephrolithiasis 10.4
46 intracranial aneurysm 10.4
47 nephrotic syndrome 10.3
48 diabetes mellitus 10.3
49 glomerulonephritis 10.3
50 pyelonephritis 10.3

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:

27
# 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:

47
# 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 162)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
2
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 159351-69-6 6442177 70789204
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
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
8
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
11
Tacrolimus Approved, Investigational Phase 4,Not Applicable 104987-11-3 445643 439492 6473866
12
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
13
Mycophenolic acid Approved Phase 4,Not Applicable 24280-93-1 446541
14
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
15
Prednisone Approved, Vet_approved Phase 4,Not Applicable 53-03-2 5865
16
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2 7440-70-2 271
17
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
18
Cilnidipine Investigational Phase 4,Phase 2 132203-70-4 5282138
19
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
20 Adrenergic Antagonists Phase 4
21 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
22 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
23 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
24 Angiotensinogen Phase 4,Phase 3,Phase 2
25 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
26 calcium channel blockers Phase 4,Phase 3,Phase 2
27 Adrenergic alpha-Antagonists Phase 4
28 Adrenergic Agents Phase 4,Not Applicable
29 Calcium, Dietary Phase 4,Phase 3,Phase 2
30 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Early Phase 1
31 Giapreza Phase 4,Phase 3,Phase 2
32 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Not Applicable
39 Natriuretic Agents Phase 4,Phase 3,Phase 2,Not Applicable
40 Vasopressins Phase 4,Phase 3,Phase 2,Not Applicable
41 Analgesics, Non-Narcotic Phase 4
42 Antirheumatic Agents Phase 4
43 Analgesics Phase 4
44 Anti-Inflammatory Agents, Non-Steroidal Phase 4
45 Anti-Inflammatory Agents Phase 4,Not Applicable
46 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Not Applicable
48 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
49 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
50 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 126)
# 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 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
12 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
13 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
14 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
15 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
16 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
17 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
18 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Completed NCT01377246 Phase 3 Octreotide-LAR
19 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
20 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
21 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
22 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
23 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
24 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
25 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
26 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
27 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
28 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
29 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
30 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
31 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
32 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
33 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
34 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
35 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
36 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
37 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
38 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
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 The ELiSA Study - Evaluation of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03487913 Phase 2 Lixivaptan
43 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
44 Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02697617 Phase 2 Pioglitazone;Placebo
45 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
46 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02656017 Phase 2 Metformin
47 Lixivaptan in a Single Subject With Intractable Pain Due to Polycystic Kidney Disease Not yet recruiting NCT03717181 Phase 2 Lixivaptan
48 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
49 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
50 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Completed NCT02558595 Phase 2

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:

42
Kidney, Liver, Endothelial, Smooth Muscle, Testes, Bone, Heart

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 3409)
# Title Authors Year
1
Factors Influencing Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30513520 )
2019
2
Population Pharmacokinetic Analyses and Model Validation of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease. ( 30618157 )
2019
3
Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. ( 30631912 )
2019
4
Urinary T cells correlate with rate of renal function loss in autosomal dominant polycystic kidney disease. ( 30632307 )
2019
5
Pharmacokinetic Evaluation of Nimotuzumab in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 30633365 )
2019
6
MRI in autosomal dominant polycystic kidney disease. ( 30637853 )
2019
7
Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes. ( 30639418 )
2019
8
Autosomal dominant polycystic kidney disease: Disrupted pathways and potential therapeutic interventions. ( 30644092 )
2019
9
A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report. ( 30651829 )
2019
10
Nonselective Cyclooxygenase Inhibition Retards Cyst Progression in a Murine Model of Autosomal Dominant Polycystic Kidney Disease. ( 30662341 )
2019
11
A rapid high-performance semi-automated tool to measure total kidney volume from MRI in autosomal dominant polycystic kidney disease. ( 30666443 )
2019
12
Cyclooxygenase 2 inhibition slows disease progression and improves the altered renal lipid mediator profile in the Pkd2WS25/- mouse model of autosomal dominant polycystic kidney disease. ( 30671914 )
2019
13
Safe Nanocomposite-Mediated Efficient Delivery of MicroRNA Plasmids for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Therapy. ( 30672150 )
2019
14
Different Effects of Iron Indices on Mortality in Patients With Autosomal Dominant Polycystic Kidney Disease After Long-Term Hemodialysis: A Nationwide Population-Based Study. ( 30683605 )
2019
15
Tolvaptan: A Review in Autosomal Dominant Polycystic Kidney Disease. ( 30689194 )
2019
16
Standardizing total kidney volume measurements for clinical trials of autosomal dominant polycystic kidney disease. ( 30746130 )
2019
17
Recent advances in the clinical management of autosomal dominant polycystic kidney disease. ( 30755792 )
2019
18
Aquaporin-3 deficiency slows cyst enlargement in experimental mouse models of autosomal dominant polycystic kidney disease. ( 30768374 )
2019
19
MR Angiography Screening and Surveillance for Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Cost-effectiveness Analysis. ( 30777807 )
2019
20
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease. ( 30792735 )
2019
21
Mineralocorticoid Antagonism and Vascular Function in Early Autosomal Dominant Polycystic Kidney Disease: A Randomized Controlled Trial. ( 30803706 )
2019
22
Clinical study on autosomal dominant polycystic kidney disease among North Tunisians. ( 30804279 )
2019
23
Aortic Dissection Associated with Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 30806618 )
2019
24
A Rare Case Report of Emphysematous Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30814802 )
2019
25
Autosomal dominant polycystic kidney disease. ( 30819518 )
2019
26
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. ( 30858458 )
2019
27
Plasma copeptin levels predict disease progression and tolvaptan efficacy in autosomal dominant polycystic kidney disease. ( 30898339 )
2019
28
Age-based ultrasonographic criteria for diagnosis of autosomal dominant polycystic kidney disease in Persian cats. ( 29652208 )
2019
29
Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome. ( 30664273 )
2019
30
Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis. ( 30879585 )
2019
31
Ultrasound Elastography to Quantify Liver Disease Severity in Autosomal Recessive Polycystic Kidney Disease. ( 30902421 )
2019
32
Urinary angiotensinogen level is associated with potassium homeostasis and clinical outcome in patients with polycystic kidney disease: a prospective cohort study. ( 30909873 )
2019
33
Author Correction: Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. ( 30914650 )
2019
34
Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease. ( 30844805 )
2019
35
Renal expression of JAK2 is high in polycystic kidney disease and its inhibition reduces cystogenesis. ( 30872773 )
2019
36
Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease. ( 30783727 )
2019
37
Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease. ( 30799240 )
2019
38
MRI Screening for Cerebral Aneurysm in Adult Polycystic Kidney Disease: Is the Money Worth Spending? ( 30801234 )
2019
39
Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History. ( 30820006 )
2019
40
Correction to "Altered Hepatobiliary Disposition of Tolvaptan and Selected Tolvaptan Metabolites in a Rodent Model of Polycystic Kidney Disease". ( 30772839 )
2019
41
Secondary Cardiomyopathy in Polycystic Kidney Disease Syndrome. ( 30686801 )
2019
42
Sheathless CE-MS based metabolic profiling of kidney tissue section samples from a mouse model of Polycystic Kidney Disease. ( 30692602 )
2019
43
Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease. ( 30720121 )
2019
44
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. ( 30617278 )
2019
45
Identifying patient-important outcomes in polycystic kidney disease: an international nominal group technique study. ( 30663163 )
2019
46
Increased water intake reduces long-term renal and cardiovascular disease progression in experimental polycystic kidney disease. ( 30601830 )
2019
47
Progress in the understanding of polycystic kidney disease. ( 30607031 )
2019
48
Altered Hepatobiliary Disposition of Tolvaptan and Selected Tolvaptan Metabolites in a Rodent Model of Polycystic Kidney Disease. ( 30504136 )
2019
49
The combination of metformin and 2-deoxyglucose significantly inhibits cyst formation in miniature pigs with polycystic kidney disease. ( 30515768 )
2019
50
Old-Age Onset Progressive Cardiac Contractile Dysfunction in a Patient with Polycystic Kidney Disease Harboring a PKD1 Frameshift Mutation. ( 30464138 )
2019

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 19)
# 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 9.81 DZIP1L IFT88 NEK1 PKHD1
3 cell-cell adhesion GO:0098609 9.75 PKD1 PKD1L1 PKHD1
4 calcium ion transport GO:0006816 9.65 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1
5 JAK-STAT cascade GO:0007259 9.58 PKD1 PKD2
6 embryonic placenta development GO:0001892 9.57 PKD1 PKD2
7 renal system development GO:0072001 9.56 PKD1 PKD2
8 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
9 placenta blood vessel development GO:0060674 9.55 PKD1 PKD2
10 kidney development GO:0001822 9.55 IFT88 PKD1 PKD1L3 PKD2 PKHD1
11 cytoplasmic sequestering of transcription factor GO:0042994 9.54 PKD1 PKD2
12 cellular response to acidic pH GO:0071468 9.52 PKD1L3 PKD2L1
13 mesonephric tubule development GO:0072164 9.49 PKD1 PKD2
14 mesonephric duct development GO:0072177 9.48 PKD1 PKD2
15 sensory perception of sour taste GO:0050915 9.46 PKD1L3 PKD2L1
16 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
17 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.4 PKD1L3 PKD2L1
18 detection of nodal flow GO:0003127 9.37 PKD1L1 PKD2
19 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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