MCID: PLY014
MIFTS: 62

Polycystic Kidney Disease

Categories: Blood diseases, Endocrine 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 77 54 26 38 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:

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 1 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, endothelial and heart, and related phenotypes are endocrine/exocrine gland and renal/urinary system

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 413)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 34.5 GANAB PKD1 PKD2
2 polycystic kidney disease 1 with or without polycystic liver disease 34.4 IFT88 PKD1 PKD2 PKD2L1 PKHD1
3 polycystic kidney disease 4 with or without polycystic liver disease 34.3 DZIP1L IFT88 PKD1 PKD2 PKHD1
4 polycystic kidney disease 2 with or without polycystic liver disease 33.6 GANAB IFT88 PKD1 PKD1L1 PKD2 PKD2L1
5 autosomal dominant polycystic kidney disease 33.2 GANAB HAX1 LRP5 PKD1 PKD1P1 PKD2
6 caroli disease 32.8 PKD1 PKHD1
7 cystic kidney disease 32.4 IFT88 PKD1 PKD2 PKD2L1 PKHD1
8 polycystic liver disease 1 with or without kidney cysts 32.3 LRP5 PKD1 PKD2 PKHD1
9 polycystic liver disease 31.9 GANAB LRP5 MIR15A PKD1 PKD2 PKHD1
10 congenital hepatic fibrosis 30.9 PKD1 PKHD1
11 liver disease 30.6 GANAB LRP5 PKD1 PKD2 PKHD1
12 kidney disease 30.4 DZIP1L GANAB IFT88 NEK1 PKD1 PKD1L1
13 multicystic dysplastic kidney 30.1 PKD1 PKD2
14 polycystic kidney disease 5 12.8
15 polycystic kidney disease 6 with or without polycystic liver disease 12.7
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 diabetes mellitus, neonatal, with congenital hypothyroidism 11.9
20 gillessen-kaesbach-nishimura syndrome 11.9
21 orofaciodigital syndrome i 11.8
22 medullary cystic kidney disease 1 11.5
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 paroxysmal exertion-induced dyskinesia 11.0
36 dengue hemorrhagic fever 10.5
37 chronic interstitial cystitis 10.5
38 tuberous sclerosis 10.5
39 renal cell carcinoma, nonpapillary 10.5
40 end stage renal failure 10.5
41 chronic kidney failure 10.4
42 cerebral aneurysms 10.4
43 intracranial aneurysm 10.4
44 nephrolithiasis 10.3
45 nephrotic syndrome 10.3
46 diabetes mellitus 10.3
47 pyelonephritis 10.3
48 aortic aneurysm 10.3
49 lymphatic malformations 10.3 PKD1 PKD2
50 tuberous sclerosis 1 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

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 163)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
2
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
3
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 53123-88-9 46835353 5284616 6436030
4
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 159351-69-6 70789204 6442177
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 22916-47-8 4189
6
Tolvaptan Approved Phase 4,Phase 3,Phase 2,Not Applicable 150683-30-0 216237
7
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
8
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
9
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
11
Tacrolimus Approved, Investigational Phase 4,Not Applicable 104987-11-3 6473866 445643 439492
12
Prednisone Approved, Vet_approved Phase 4,Not Applicable 53-03-2 5865
13
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
14
Mycophenolic acid Approved Phase 4,Not Applicable 24280-93-1 446541
15
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
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 alpha-Antagonists Phase 4
21 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
22 Calcium, Dietary Phase 4,Phase 3,Phase 2
23 Giapreza Phase 4,Phase 3,Phase 2
24 Adrenergic Antagonists Phase 4
25 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Early Phase 1
26 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
27 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
28 Angiotensinogen Phase 4,Phase 3,Phase 2
29 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
30 Adrenergic Agents Phase 4,Not Applicable
31 calcium channel blockers Phase 4,Phase 3,Phase 2
32 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
40 Natriuretic Agents Phase 4,Phase 3,Phase 2,Not Applicable
41 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Not Applicable
42 Antidiuretic Hormone Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
43 Vasopressins Phase 4,Phase 3,Phase 2,Not Applicable
44 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Not Applicable
46 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
47 Anticholesteremic Agents Phase 4,Phase 3,Not Applicable
48 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
49 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
50 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 130)
# 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 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Not yet recruiting NCT03949894 Phase 4 Tolvaptan
7 Prednisone Withdrawal Versus Prednisone Maintenance After Kidney Transplant Terminated NCT00596947 Phase 4 prednisone;rabbit antithymocyte globulin;Tacrolimus;Prednisone;Mycophenolate mofetil;Mycophenolate mofetil
8 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
9 Study of Lanreotide to Treat Polycystic Kidney Disease Unknown status NCT01616927 Phase 3 Lanreotide
10 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
11 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
12 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)
13 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
14 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
15 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
16 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Completed NCT01377246 Phase 3 Octreotide-LAR
17 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
18 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
19 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
20 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
21 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
22 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
23 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
24 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
25 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
26 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
27 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
28 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
29 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
30 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
31 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
32 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
33 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
34 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
35 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
36 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
37 A Trial of Bardoxolone Methyl in Patients With ADPKD - FALCON Not yet recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
38 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
39 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
40 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
41 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
42 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
43 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
44 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;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 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
47 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
48 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Completed NCT02558595 Phase 2
49 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
50 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

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, Endothelial, Heart, Bone, Smooth Muscle, Testes, Prostate

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 3451)
# Title Authors Year
1
Risk of Ascending Aortic Aneurysm in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 30477801 )
2019
2
Abdominal Aortic Aneurysm Associated with Polycystic Kidney Disease: Endovascular Aortic Repair and Renal Embolization. ( 30342219 )
2019
3
Aortic Dissection Associated with Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 30806618 )
2019
4
A Rare Case Report of Emphysematous Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30814802 )
2019
5
Autosomal dominant polycystic kidney disease. ( 30819518 )
2019
6
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. ( 30858458 )
2019
7
Plasma copeptin levels predict disease progression and tolvaptan efficacy in autosomal dominant polycystic kidney disease. ( 30898339 )
2019
8
Long-term trajectory of kidney function in autosomal-dominant polycystic kidney disease. ( 30922668 )
2019
9
Bioelectrical impedance analysis as a nutritional assessment tool in Autosomal Dominant Polycystic Kidney Disease. ( 30947248 )
2019
10
Octreotide-LAR in later-stage autosomal dominant polycystic kidney disease (ALADIN 2): A randomized, double-blind, placebo-controlled, multicenter trial. ( 30951521 )
2019
11
Prostatic cyst in autosomal dominant polycystic kidney disease: unusual association. ( 30954962 )
2019
12
CT of Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: Accuracy, Reproducibility, and Radiation Dose. ( 30964424 )
2019
13
Early Urinary Biomarkers in Pediatric Autosomal Dominant Polycystic Kidney Disease (ADPKD): No Evidence in the Interest of Urinary Neutrophil Gelatinase-Associated Lipocalin (uNGAL). ( 30968008 )
2019
14
Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients. ( 30989420 )
2019
15
Endothelin-1 as a therapeutic target in autosomal dominant polycystic kidney disease
. ( 30990410 )
2019
16
Subarachnoid Hemorrhage in Hospitalized Renal Transplant Recipients with Autosomal Dominant Polycystic Kidney Disease: A Nationwide Analysis. ( 30999564 )
2019
17
Uroflowmetry alterations in patients with autosomal dominant polycystic kidney disease. ( 31002123 )
2019
18
Splenic artery aneurysm in a patient of autosomal dominant polycystic kidney disease: beyond tenuous concomitance! ( 31005868 )
2019
19
Modelling the long-term benefits of tolvaptan therapy on renal function decline in autosomal dominant polycystic kidney disease: an exploratory analysis using the ADPKD outcomes model. ( 31014270 )
2019
20
Proteomic Analysis of Urinary Microvesicles and Exosomes in Medullary Sponge Kidney Disease and Autosomal Dominant Polycystic Kidney Disease. ( 31018934 )
2019
21
Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013-2015. ( 31019924 )
2019
22
Pretransplant Nephrectomy for Large Polycystic Kidneys in ADPKD (Autosomal Dominant Polycystic Kidney Disease) Patients: Is Peritoneal Dialysis Recovery Possible after Surgery? ( 31019972 )
2019
23
Morphological evaluation of sympathetic renal innervation in patients with autosomal dominant polycystic kidney disease. ( 31025246 )
2019
24
Autosomal dominant polycystic kidney disease: new role for ultrasound. ( 31028448 )
2019
25
Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD). ( 31039757 )
2019
26
A study of sirolimus and an mTOR kinase inhibitor (TORKi) in a hypomorphic Pkd1 mouse model of autosomal dominant polycystic kidney disease (ADPKD). ( 31042058 )
2019
27
Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial. ( 31053954 )
2019
28
A Case Report of Autosomal Dominant Polycystic Kidney Disease Under Peritoneal Dialysis With Cyst Infection and Culture-Positive Peritoneal Fluid. ( 31065220 )
2019
29
Somatostatin in renal physiology and autosomal dominant polycystic kidney disease. ( 31077332 )
2019
30
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. ( 31079206 )
2019
31
Growth Pattern of Kidney Cyst Number and Volume in Autosomal Dominant Polycystic Kidney Disease. ( 31088850 )
2019
32
Pancreatic Cysts and Intraductal Papillary Mucinous Neoplasm in Autosomal Dominant Polycystic Kidney Disease. ( 31091218 )
2019
33
Liver Involvement in Autosomal Dominant Polycystic Kidney Disease. ( 31091376 )
2019
34
Oxidative stress in autosomal dominant polycystic kidney disease: player and/or early predictor for disease progression? ( 30105413 )
2019
35
The association between autosomal dominant polycystic kidney disease and cancer. ( 30109558 )
2019
36
Autosomal Dominant Polycystic Kidney Disease with Emphysematous Polycystic Renal Infection That Required Surgical Treatment. ( 30146585 )
2019
37
Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease. ( 30230107 )
2019
38
Pro: Tolvaptan delays the progression of autosomal dominant polycystic kidney disease. ( 30312438 )
2019
39
Con: Tolvaptan for autosomal dominant polycystic kidney disease-do we know all the answers? ( 30312449 )
2019
40
Sarcoidosis in the renal allograft of a recipient whose primary disease was autosomal dominant polycystic kidney disease. ( 30328079 )
2019
41
Impact of miR-192 and miR-194 on cyst enlargement through EMT in autosomal dominant polycystic kidney disease. ( 30332302 )
2019
42
Ciprofloxacin penetration into infected hepatic cysts in autosomal dominant polycystic kidney disease: a case report. ( 30452619 )
2019
43
Factors Influencing Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30513520 )
2019
44
Population Pharmacokinetic Analyses and Model Validation of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease. ( 30618157 )
2019
45
Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. ( 30631912 )
2019
46
Urinary T cells correlate with rate of renal function loss in autosomal dominant polycystic kidney disease. ( 30632307 )
2019
47
Pharmacokinetic Evaluation of Nimotuzumab in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 30633365 )
2019
48
MRI in autosomal dominant polycystic kidney disease. ( 30637853 )
2019
49
Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes. ( 30639418 )
2019
50
Autosomal dominant polycystic kidney disease: Disrupted pathways and potential therapeutic interventions. ( 30644092 )
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 18)
# 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 9.74 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 9.56 PKD1 PKD2
7 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
8 placenta blood vessel development GO:0060674 9.55 PKD1 PKD2
9 kidney development GO:0001822 9.55 IFT88 PKD1 PKD1L3 PKD2 PKHD1
10 cytoplasmic sequestering of transcription factor GO:0042994 9.54 PKD1 PKD2
11 cellular response to acidic pH GO:0071468 9.52 PKD1L3 PKD2L1
12 mesonephric tubule development GO:0072164 9.49 PKD1 PKD2
13 mesonephric duct development GO:0072177 9.48 PKD1 PKD2
14 sensory perception of sour taste GO:0050915 9.46 PKD1L3 PKD2L1
15 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
16 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.4 PKD1L3 PKD2L1
17 detection of nodal flow GO:0003127 9.37 PKD1L1 PKD2
18 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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