PKD
MCID: PLY014
MIFTS: 70

Polycystic Kidney Disease (PKD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Polycystic Kidney Disease

MalaCards integrated aliases for Polycystic Kidney Disease:

Name: Polycystic Kidney Disease 11 19 42 75 28 5 14 16
Polycystic Kidney Diseases 53 71
Polycystic Kidney, Autosomal Dominant 71
Kidney Disease, Polycystic 38
Polycystic Renal Disease 42
Pkd 42

Classifications:



External Ids:

Disease Ontology 11 DOID:0080322
ICD10 31 Q61.3
UMLS 71 C0022680 C0085413

Summaries for Polycystic Kidney Disease

MedlinePlus Genetics: 42 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.Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

MalaCards based summary: Polycystic Kidney Disease, also known as polycystic kidney diseases, is related to autosomal dominant polycystic kidney disease and polycystic kidney disease 1 with or without polycystic liver disease. An important gene associated with Polycystic Kidney Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliopathies. The drugs Angiotensin II and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are renal/urinary system and digestive/alimentary

Disease Ontology: 11 A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.

Wikipedia: 75 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 7
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 873)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant polycystic kidney disease 34.5 PKHD1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
2 polycystic kidney disease 1 with or without polycystic liver disease 34.4 PKHD1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
3 polycystic kidney disease 4 with or without polycystic liver disease 34.2 PKHD1 PKD2 PKD1 NPHP3 MIR15A IFT88
4 polycystic kidney disease 2 with or without polycystic liver disease 34.1 PKHD1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L1
5 polycystic kidney disease 3 with or without polycystic liver disease 33.8 PKD2 PKD1
6 kidney disease 33.8 PKHD1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
7 cystic kidney disease 33.6 PKHD1 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
8 polycystic liver disease 33.2 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 MIR15A
9 caroli disease 33.1 PKHD1 PKD2 PKD1 NPHP3
10 nephronophthisis 32.9 PKHD1 PKD2 PKD1 NPHP3-ACAD11 NPHP3 IFT88
11 congenital hepatic fibrosis 32.9 PKHD1 PKD2 PKD1
12 polycystic liver disease 1 with or without kidney cysts 32.8 PKHD1 PKD2 PKD1
13 joubert syndrome 1 32.8 PKHD1 PKD2 PKD1 NPHP3-ACAD11 NPHP3 IFT88
14 end stage renal disease 32.8 PKD2 PKD1 NPHP3 DZIP1L COL4A4
15 orofaciodigital syndrome 32.8 IFT88 CEP290 CC2D2A
16 orofaciodigital syndrome i 32.7 IFT88 CEP290
17 oligohydramnios 31.9 PKHD1 PKD1 NPHP3 DZIP1L CC2D2A
18 orthostatic intolerance 31.7 PKHD1 PKD2 PKD1
19 meckel syndrome, type 1 31.5 PKHD1 PKD2 PKD1 NPHP3 IFT88 CEP290
20 bardet-biedl syndrome 31.3 PKHD1 PKD2 PKD1L1 PKD1 NPHP3 IFT88
21 situs inversus 31.3 PKD2 PKD1L1 PKD1 NPHP3 IFT88 CEP290
22 retinitis pigmentosa 31.2 PKHD1 PKD2 PKD1 NPHP3 MIR17 IFT88
23 primary ciliary dyskinesia 31.0 PKD2 PKD1L1 PKD1 NPHP3 IFT88 CEP290
24 ascending cholangitis 31.0 PKHD1 PKD1L1
25 multicystic dysplastic kidney 31.0 PKD2 PKD1
26 cranioectodermal dysplasia 30.9 PKD2 IFT88 CEP290 CC2D2A
27 cakut 30.9 PKHD1 NPHP3 DZIP1L COL4A4
28 visceral heterotaxy 30.9 PKHD1 PKD2 PKD1L1 PKD1 NPHP3 IFT88
29 asphyxiating thoracic dystrophy 30.8 PKHD1 PKD2 PKD1 NPHP3 IFT88 CEP290
30 nephronophthisis 9 30.8 NPHP3 CEP290
31 nephronophthisis 2 30.6 NPHP3 CEP290 CC2D2A
32 encephalocele 30.5 CEP290 CC2D2A
33 polycystic kidney disease 5 11.8
34 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.8
35 polycystic kidney disease 6 with or without polycystic liver disease 11.8
36 polycystic kidney disease 4 11.7
37 polycystic kidney disease 7 11.6
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 11.6
39 gillessen-kaesbach-nishimura syndrome 11.6
40 paroxysmal dyskinesia 11.2
41 tubulointerstitial kidney disease, autosomal dominant, 2 11.2
42 convulsions, familial infantile, with paroxysmal choreoathetosis 11.1
43 nephronophthisis 14 11.1
44 congenital pancreatic cyst 11.1
45 pyruvate kinase deficiency of red cells 11.0
46 chronic kidney disease 11.0
47 urinary tract infection 10.9
48 nephrolithiasis, calcium oxalate 10.8
49 portal hypertension 10.8
50 tuberous sclerosis 2 10.8

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


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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.02 CC2D2A CEP290 COL4A4 DZIP1L IFT88 NPHP3
2 digestive/alimentary MP:0005381 9.86 CC2D2A COL4A4 DZIP1L IFT88 PKD1 PKD1L1
3 craniofacial MP:0005382 9.7 ANO5 CC2D2A CEP290 DZIP1L IFT88 NPHP3
4 cardiovascular system MP:0005385 9.65 ANO5 CC2D2A CEP290 DZIP1L IFT88 NPHP3
5 respiratory system MP:0005388 9.17 CC2D2A CEP290 IFT88 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 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
2
Candesartan cilexetil Approved Phase 4 145040-37-5
3
Curcumin Approved, Investigational Phase 4 458-37-7, 84765-67-3 969516
4
Pravastatin Approved Phase 4 81093-37-0 54687
5
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231
6
Candesartan Experimental Phase 4 139481-59-7 2541
7
Cilnidipine Investigational Phase 4 132203-70-4 2752 5282138
8 Calcium, Dietary Phase 4
9 Antihypertensive Agents Phase 4
10
Angiotensinogen Phase 4 16133225
11 Angiotensin-Converting Enzyme Inhibitors Phase 4
12 Angiotensin Receptor Antagonists Phase 4
13 Angiotensin II Type 1 Receptor Blockers Phase 4
14 Giapreza Phase 4
15 calcium channel blockers Phase 4
16 Adrenergic Antagonists Phase 4
17 Adrenergic alpha-Antagonists Phase 4
18 Adrenergic Agents Phase 4
19 Analgesics Phase 4
20 Antirheumatic Agents Phase 4
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Antimetabolites Phase 4
24 Hypolipidemic Agents Phase 4
25 Lipid Regulating Agents Phase 4
26 Anticholesteremic Agents Phase 4
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
28 Sodium Channel Blockers Phase 4
29 Diuretics, Potassium Sparing Phase 4
30 Anti-Inflammatory Agents Phase 4
31
Calcium Nutraceutical Phase 4 7440-70-2 271
32
Lanreotide Approved Phase 3 108736-35-2 71349 6918011
33
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605 16129706
34
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
35
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
36
Hydralazine Approved Phase 3 86-54-4 3637
37
Lactitol Approved, Investigational Phase 3 585-86-4 157355
38
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
39
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
40
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
41
Clonidine Approved Phase 3 4205-91-8, 4205-90-7 2803 20179
42
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
43
Carbamide peroxide Approved Phase 2, Phase 3 124-43-6
44
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
45
Tolvaptan Approved Phase 3 150683-30-0 216237
46
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
47
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
48
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
49
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
50
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812

Interventional clinical trials:

(show top 50) (show all 158)
# Name Status NCT ID Phase Drugs
1 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Unknown status NCT03596957 Phase 4 Tolvaptan
2 Comparison Between ARB and ARB Plus CCB on Incidence of Renal and Cardiovascular Events in Hypertensive ADPKD Patients Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
3 A Multicenter, Randomized, Placebo-controlled, Double-blind Study on the Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease (ESRD) in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00414440 Phase 4 Placebo;Everolimus
4 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Completed NCT03949894 Phase 4 Tolvaptan
5 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Completed NCT02494141 Phase 4 Curcumin
6 Treatment of Vascular Stiffness in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT05228574 Phase 4 Amiloride Hcl 5mg Tab
7 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
8 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
9 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Unknown status NCT03764605 Phase 3 Metformin;Tolvaptan
10 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
11 The DIPAK 1 Study: A Randomised, Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in ADPKD Unknown status NCT01616927 Phase 3 Lanreotide
12 An Open-label, Prospective Clinical Trial to Evaluate the Effectiveness and Safety of Sirolimus to Reduce Cyst Growth in ADPKD Patients With Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
13 Open-Label Extension of the LOCKCYST Trial, LOCKCYST: Long Acting Lnareotide as as Volume Reducing Treatment of Polycystic Livers Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
14 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
15 A Phase 3, Multi-center, Double-blind, Placebo-controlled, Parallel-arm Trial to Determine Long-term Safety and Efficacy of Oral Tolvaptan Tablets Regimens in Adult Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT00428948 Phase 3 Tolvaptan;Placebo
16 EFFECT OF SOMATOSTTIN ON EARLY DIASTOLIC LEFT VENTRICULAR FUNCTION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: A MATCHED-COHORT, SPECKLE-TRACKING ECHOCARDIOGRAPHIC STUDY Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
17 A Phase 3b, Multi-center, Open-label Trial to Evaluate the Long Term Safety of Immediate-release Tolvaptan (OPC-41061, 30 mg to 120 mg/Day, Split Dose) in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan
18 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT02964273 Phase 3 Phase A Tolvaptan;Placebo Phase A;Phase B Tolvaptan
19 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
20 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
21 An Open-labelled Multicenter Randomized Study on the Efficacy of Everolimus in Reducing Total Native Kidney Volume in Kidney Transplanted Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
22 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
23 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
24 Effect of a Long-acting Somatostatin on Disease Progression in Nephropathy Due to Autosomal Dominant Polycystic Kidney Disease: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
25 HALT Progression of Polycystic Kidney Disease Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
26 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
27 Multi-center, Open-label, Extension Study to Evaluate the Long-term Efficacy and Safety of Oral Tolvaptan Tablet Regimens in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01214421 Phase 3 Tolvaptan
28 A Phase 3b, Multi-center, Randomized-withdrawal, Placebo-controlled, Double-blind, Parallel-group Trial to Compare the Efficacy and Safety of Tolvaptan (45 to 120 mg/Day, Split-dose) 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
29 A Multicenter, Open-label Extension 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
30 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED CLINICAL TRIAL TO ASSESS THE EFFECTS OF LONG-ACTING SOMATOSTATIN (OCTREOTIDE LAR) THERAPY ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND MODERATE TO SEVERE RENAL INSUFFICIENCY Completed NCT01377246 Phase 3 Octreotide-LAR
31 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
32 Pilot Study Of Long-Acting Octreotide (Octreotide LAR® Depot) In The Treatment Of Patients With Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
33 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
34 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
35 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
36 A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 18 Years of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Recruiting NCT04782258 Phase 3 Tolvaptan Suspension;Tolvaptan Tablets
37 A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 12 Weeks of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Recruiting NCT04786574 Phase 3 Tolvaptan (OPC-41061)
38 A Phase 3 Trial of Bardoxolone Methyl in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
39 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
40 Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD): A Randomised Placebo-Controlled Trial Not yet recruiting NCT04939935 Phase 3 Metformin XR
41 HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of Life Not yet recruiting NCT05373264 Phase 3 Hydrochlorothiazide 25 mg;Placebo
42 Multicenter, Open-label, Extension Study to Characterize the Long-term Efficacy and Safety of Early Versus Delayed Treatment With Venglustat (GZ/SAR402671) in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Terminated NCT04705051 Phase 3 Venglustat GZ402671
43 An Open-Label Study of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Who Previously Experienced Abnormal Liver Chemistry Test Results While Receiving Tolvaptan: The ALERT Study Terminated NCT04152837 Phase 3 Lixivaptan
44 A Phase 3 Study of the Efficacy and Safety of Lixivaptan in Participants With Autosomal Dominant Polycystic Kidney Disease Consisting of a 1-year Double-blind, Placebo-controlled, Randomized Phase and a 1-year Open-label Phase: The ACTION Study Terminated NCT04064346 Phase 3 Lixivaptan;Placebo
45 Multicenter, Randomized, Double-blind, Placebo-controlled Two Stage Study to Characterize the Efficacy, Safety, Tolerability and Pharmacokinetics of GZ/SAR402671 in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Terminated NCT03523728 Phase 2, Phase 3 Venglustat;Placebo
46 PA-ADPKD-304: A Phase 3, Open-label, Roll-over Study to Assess Long-term Safety of Lixivaptan in Participants With Autosomal Dominant Polycystic Kidney Disease Who Completed Study PA-ADPKD-303: The ALERT Study Terminated NCT05208866 Phase 3 Lixivaptan
47 EFFECTS OF SIROLIMUS ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND SEVERE RENAL INSUFFICIENCY Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
48 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
49 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
50 A Randomized, Open-label Study Investigating the Effect of Bilateral Renal Artery Sympathetic Denervation by Catheter-based Radiofrequency Ablation on Blood Pressure and Disease Progression in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT01932450 Phase 2 antihypertensive drugs

Search NIH Clinical Center for Polycystic Kidney Disease

Genetic Tests for Polycystic Kidney Disease

Genetic tests related to Polycystic Kidney Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 28

Anatomical Context for Polycystic Kidney Disease

Organs/tissues related to Polycystic Kidney Disease:

MalaCards : Kidney, Liver, Heart, Brain, Smooth Muscle, Endothelial, Bone Marrow

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 8697)
# Title Authors PMID Year
1
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 53 62 5
15698423 2005
2
Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD. 5
31922066 2020
3
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. 5
26862157 2016
4
MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation. 62 46
19821056 2010
5
MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. 62 46
18949056 2008
6
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 5
17705300 2008
7
Renal cystic diseases in children: new concepts. 53 62
20432012 2010
8
Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes. 53 62
20053665 2010
9
Of mice and men: therapeutic mTOR inhibition in polycystic kidney disease. 53 62
20133481 2010
10
Regulation of ciliary trafficking of polycystin-2 and the pathogenesis of autosomal dominant polycystic kidney disease. 53 62
20197605 2010
11
Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation. 53 62
20096584 2010
12
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. 53 62
20460933 2010
13
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 53 62
19766642 2010
14
A mitotic transcriptional switch in polycystic kidney disease. 53 62
19966811 2010
15
Might there be an association between polycystic kidney disease and noncompaction of the ventricular myocardium? 53 62
19762607 2009
16
Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1. 53 62
19692352 2009
17
Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains. 53 62
19759016 2009
18
Nanomolar potency pyrimido-pyrrolo-quinoxalinedione CFTR inhibitor reduces cyst size in a polycystic kidney disease model. 53 62
19785436 2009
19
Polycystin-1 and -2 dosage regulates pressure sensing. 53 62
19879844 2009
20
Inhibition of PKHD1 may cause S-phase entry via mTOR signaling pathway. 53 62
19524688 2009
21
Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease. 53 62
19397527 2009
22
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 53 62
19346236 2009
23
Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas. 53 62
19292732 2009
24
Deficiency of polycystic kidney disease-1 gene (PKD1) expression increases A(3) adenosine receptors in human renal cells: implications for cAMP-dependent signalling and proliferation of PKD1-mutated cystic cells. 53 62
19285554 2009
25
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. 53 62
19321600 2009
26
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 53 62
19165178 2009
27
[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease]. 53 62
19936001 2009
28
Detecting the surface localization and cytoplasmic cleavage of membrane-bound proteins. 53 62
20362093 2009
29
Polycystins and primary cilia: primers for cell cycle progression. 53 62
19572811 2009
30
Retinoic acid-dependent activation of the polycystic kidney disease-1 (PKD1) promoter. 53 62
18922886 2008
31
Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis. 53 62
18694932 2008
32
Chromosomal evolution of the PKD1 gene family in primates. 53 62
18822117 2008
33
The mTOR pathway and its role in human genetic diseases. 53 62
18598780 2008
34
Alpha-aminoazaheterocyclic-methylglyoxal adducts do not inhibit cystic fibrosis transmembrane conductance regulator chloride channel activity. 53 62
18272811 2008
35
Calcium, cyclic AMP, and MAP kinases: dysregulation in polycystic kidney disease. 53 62
18195694 2008
36
Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. 53 62
18175055 2008
37
Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. 53 62
17980165 2008
38
Haemoglobin and erythropoietin levels in polycystic kidney disease. 53 62
17951311 2008
39
Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion. 53 62
18037103 2007
40
PKD1 inhibits cancer cells migration and invasion via Wnt signaling pathway in vitro. 53 62
17437318 2007
41
Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1. 53 62
17715262 2007
42
Regulation of the epithelial sodium channel by phosphatidylinositides: experiments, implications, and speculations. 53 62
17605040 2007
43
Serum erythropoietin concentrations and responses to anaemia in patients with or without chronic kidney disease. 53 62
17556407 2007
44
Rational proteomics of PKD1. I. Modeling the three dimensional structure and ligand specificity of the C_lectin binding domain of Polycystin-1. 53 62
17437137 2007
45
Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. 53 62
17525154 2007
46
The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family. 53 62
17629917 2007
47
PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease. 53 62
17370309 2007
48
Wnt signaling in polycystic kidney disease. 53 62
17429050 2007
49
Involvement of hypoxia-inducible transcription factors in polycystic kidney disease. 53 62
17322369 2007
50
TRPP2 channel regulation. 53 62
17217069 2007

Variations for Polycystic Kidney Disease

ClinVar genetic disease variations for Polycystic Kidney Disease:

5 (show top 50) (show all 751)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKHD1 NM_138694.4(PKHD1):c.5081dup (p.Val1695fs) DUP Pathogenic
374180 rs1057518952 GRCh37: 6:51889526-51889527
GRCh38: 6:52024728-52024729
2 PKD1 NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) SNV Pathogenic
374102 rs1057518899 GRCh37: 16:2161648-2161648
GRCh38: 16:2111647-2111647
3 PKD2 NM_000297.4(PKD2):c.145C>T (p.Gln49Ter) SNV Pathogenic
374110 rs1057518906 GRCh37: 4:88929030-88929030
GRCh38: 4:88007878-88007878
4 CEP290 NM_025114.4(CEP290):c.3104-2A>G SNV Pathogenic
374210 rs773386777 GRCh37: 12:88487754-88487754
GRCh38: 12:88093977-88093977
5 PKD1 NM_001009944.3(PKD1):c.7818dup (p.His2607fs) DUP Pathogenic
427767 rs1555452653 GRCh37: 16:2155910-2155911
GRCh38: 16:2105909-2105910
6 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) DEL Pathogenic
523354 rs1553927823 GRCh37: 4:88986956-88986959
GRCh38: 4:88065804-88065807
7 PKD2 NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) INDEL Pathogenic
Pathogenic
373955 rs1057518797 GRCh37: 4:88929242-88929249
GRCh38: 4:88008090-88008097
8 PKD1 NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) SNV Pathogenic
523384 rs777269070 GRCh37: 16:2140778-2140778
GRCh38: 16:2090777-2090777
9 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) SNV Pathogenic
Pathogenic
433952 rs747483368 GRCh37: 16:2164809-2164809
GRCh38: 16:2114808-2114808
10 PKD1 NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) MICROSAT Pathogenic
523387 rs1555454847 GRCh37: 16:2159267-2159269
GRCh38: 16:2109266-2109268
11 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter) SNV Pathogenic
560353 rs1567155145 GRCh37: 16:2142535-2142535
GRCh38: 16:2092534-2092534
12 PKD1 NM_001009944.3(PKD1):c.8749del (p.Ala2917fs) DEL Pathogenic
997277 rs2092179583 GRCh37: 16:2153309-2153309
GRCh38: 16:2103308-2103308
13 PKD1 NM_001009944.3(PKD1):c.7421del (p.Gly2474fs) DEL Pathogenic
997276 rs1237714286 GRCh37: 16:2156467-2156467
GRCh38: 16:2106466-2106466
14 PKD1 DEL Pathogenic
997275 rs2091475541 GRCh37: 16:2140809-2140809
GRCh38: 16:2090808-2090808
15 PKD2 NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter) SNV Pathogenic
997262 rs770308463 GRCh37: 4:88986625-88986625
GRCh38: 4:88065473-88065473
16 PKD1 NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter) SNV Pathogenic
997261 rs2092321430 GRCh37: 16:2155925-2155925
GRCh38: 16:2105924-2105924
17 PKD1 NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) SNV Pathogenic
997260 rs2092423837 GRCh37: 16:2158696-2158696
GRCh38: 16:2108695-2108695
18 PKD1 NM_001009944.3(PKD1):c.3295+2T>G SNV Pathogenic
997243 rs2092536098 GRCh37: 16:2162339-2162339
GRCh38: 16:2112338-2112338
19 PKD2 NM_000297.4(PKD2):c.1704dup (p.Val569fs) DUP Pathogenic
997242 rs1720128947 GRCh37: 4:88973292-88973293
GRCh38: 4:88052140-88052141
20 PKD1 NM_001009944.3(PKD1):c.11712+2T>C SNV Pathogenic
997241 rs2091571271 GRCh37: 16:2141422-2141422
GRCh38: 16:2091421-2091421
21 PKD1 NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter) SNV Pathogenic
997240 rs2092200060 GRCh37: 16:2153670-2153670
GRCh38: 16:2103669-2103669
22 PKD2 NM_000297.4(PKD2):c.844-2A>G SNV Pathogenic
997239 rs1727412388 GRCh37: 4:88959401-88959401
GRCh38: 4:88038249-88038249
23 PKD1 NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter) SNV Pathogenic
997218 rs2092487764 GRCh37: 16:2161000-2161000
GRCh38: 16:2110999-2110999
24 PKD2 NM_000297.4(PKD2):c.843+1G>A SNV Pathogenic
997217 rs1727333593 GRCh37: 4:88957506-88957506
GRCh38: 4:88036354-88036354
25 PKD2 NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) SNV Pathogenic
997216 rs1163840810 GRCh37: 4:88929452-88929452
GRCh38: 4:88008300-88008300
26 PKD1 NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter) SNV Pathogenic
997215 rs2092596212 GRCh37: 16:2164496-2164496
GRCh38: 16:2114495-2114495
27 PKD1 NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) SNV Pathogenic
974402 rs2091437893 GRCh37: 16:2140357-2140357
GRCh38: 16:2090356-2090356
28 PKD2 NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter) SNV Pathogenic
997214 rs1720126853 GRCh37: 4:88973256-88973256
GRCh38: 4:88052104-88052104
29 PKD2 NM_000297.4(PKD2):c.2159dup (p.Asn720fs) DUP Pathogenic
13522 rs757757289 GRCh37: 4:88986558-88986559
GRCh38: 4:88065406-88065407
30 PKD1 NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter) SNV Pathogenic
997213 rs147391291 GRCh37: 16:2159147-2159147
GRCh38: 16:2109146-2109146
31 PKHD1 NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) DEL Pathogenic
371441 rs1057517273 GRCh37: 6:51890668-51890668
GRCh38: 6:52025870-52025870
32 PKD2 NM_000297.4(PKD2):c.1986del (p.Thr663fs) DEL Pathogenic
997340 rs1720430411 GRCh37: 4:88979222-88979222
GRCh38: 4:88058070-88058070
33 PKD1 NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs) DEL Pathogenic
997341 rs2092590647 GRCh37: 16:2164235-2164247
GRCh38: 16:2114234-2114246
34 PKD2 NM_000297.4(PKD2):c.2020-1_2020del DEL Pathogenic
449307 rs1553927436 GRCh37: 4:88983056-88983057
GRCh38: 4:88061904-88061905
35 PKD1 NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) SNV Pathogenic
997191 rs2091498706 GRCh37: 16:2141122-2141122
GRCh38: 16:2091121-2091121
36 PKD2 NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) SNV Pathogenic
523770 rs369678636 GRCh37: 4:88995974-88995974
GRCh38: 4:88074822-88074822
37 PKD2 NM_000297.4(PKD2):c.181C>T (p.Gln61Ter) SNV Pathogenic
636465 rs1355372474 GRCh37: 4:88929066-88929066
GRCh38: 4:88007914-88007914
38 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.11157-1G>A SNV Pathogenic
997190 rs2091646317 GRCh37: 16:2142594-2142594
GRCh38: 16:2092593-2092593
39 PKD1 NM_001009944.3(PKD1):c.7863+1del DEL Pathogenic
997176 rs2092319664 GRCh37: 16:2155865-2155865
GRCh38: 16:2105864-2105864
40 PKD1 NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) SNV Pathogenic
586237 rs1567166045 GRCh37: 16:2147952-2147952
GRCh38: 16:2097951-2097951
41 PKD1 NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) SNV Pathogenic
997175 rs1596476503 GRCh37: 16:2141004-2141004
GRCh38: 16:2091003-2091003
42 PKD1 NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) SNV Pathogenic
997174 rs2092425533 GRCh37: 16:2158762-2158762
GRCh38: 16:2108761-2108761
43 PKD2 NM_000297.4(PKD2):c.1322dup (p.Leu441fs) DUP Pathogenic
997173 rs1727782355 GRCh37: 4:88967794-88967795
GRCh38: 4:88046642-88046643
44 PKD1 NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) SNV Pathogenic
997172 rs2092196354 GRCh37: 16:2153588-2153588
GRCh38: 16:2103587-2103587
45 PKD1 NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter) SNV Pathogenic
873330 rs762911981 GRCh37: 16:2158801-2158801
GRCh38: 16:2108800-2108800
46 PKD2 NM_000297.4(PKD2):c.1094+1G>C SNV Pathogenic
997171 rs58606740 GRCh37: 4:88959654-88959654
GRCh38: 4:88038502-88038502
47 PKD2 NM_000297.4(PKD2):c.1094+1G>A SNV Pathogenic
280008 rs58606740 GRCh37: 4:88959654-88959654
GRCh38: 4:88038502-88038502
48 PKD1 NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) SNV Pathogenic
586294 rs1567186946 GRCh37: 16:2156811-2156811
GRCh38: 16:2106810-2106810
49 PKD2 NM_000297.4(PKD2):c.709+1G>A SNV Pathogenic
92797 rs398123308 GRCh37: 4:88940724-88940724
GRCh38: 4:88019572-88019572
50 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.11552del (p.Phe3851fs) DEL Pathogenic
997272 rs2091580617 GRCh37: 16:2141584-2141584
GRCh38: 16:2091583-2091583

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 399)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ALDOB aldolase, fructose-bisphosphate B 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 Kidney - 8.41 0.000
6 NAT8 N-acetyltransferase 8 (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 microfibril associated protein 5 Kidney + 7.82 0.000
12 DIO1 iodothyronine deiodinase 1 Kidney - 7.73 0.000
13 MIOX myo-inositol oxygenase Kidney - 7.62 0.000
14 DDC dopa 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 member 3 Kidney - 7.56 0.000
17 SLC12A1 solute carrier family 12 member 1 Kidney - 7.44 0.000
18 SLC7A13 solute carrier family 7 member 13 Kidney - 7.40 0.000
19 DPYS dihydropyrimidinase Kidney - 7.33 0.000
20 SLC13A1 solute carrier family 13 member 1 Kidney - 7.30 0.000
21 BBOX1 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 member 9 Kidney - 7.23 0.000
24 GBA3 glucosylceramidase beta 3 (gene/pseudogene) Kidney - 7.18 0.000
25 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 7.17 0.000
26 SLC27A2 solute carrier family 27 member 2 Kidney - 7.12 0.000
27 CLTRN collectrin, amino acid transport regulator Kidney - 7.11 0.000
28 HAO2 hydroxyacid oxidase 2 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 Kidney - 6.88 0.000
33 MME membrane metalloendopeptidase 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 family 3 member A1 Kidney - 6.73 0.000
38 GDA guanine deaminase Kidney - 6.68 0.000
39 AFM afamin Kidney - 6.67 0.000
40 G6PC1 glucose-6-phosphatase catalytic subunit 1 Kidney - 6.57 0.000
41 XIST X inactive specific transcript 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 member 11 Kidney - 6.41 0.000
47 CTHRC1 collagen triple helix repeat containing 1 Kidney + 6.41 0.000
48 FMO1 flavin containing dimethylaniline monoxygenase 1 Kidney - 6.35 0.000
49 TMEM174 transmembrane protein 174 Kidney - 6.34 0.000
50 SLC22A7 solute carrier family 22 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 10.07 PKHD1 PKD2 IFT88 DZIP1L CEP290
2 ciliary membrane GO:0060170 9.92 PKD1 PKD1L1 PKD2 PKD2L1
3 calcium channel complex GO:0034704 9.91 PKD2L1 PKD1L1 PKD1
4 ciliary base GO:0097546 9.88 NPHP3-ACAD11 NPHP3 IFT88
5 non-motile cilium GO:0097730 9.86 PKD2L1 PKD2 PKD1L1 IFT88
6 cell projection GO:0042995 9.85 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 NPHP3
7 MKS complex GO:0036038 9.81 CEP290 CC2D2A
8 polycystin complex GO:0002133 9.71 PKD2 PKD1
9 ciliary inversin compartment GO:0097543 9.63 NPHP3-ACAD11 NPHP3
10 cilium GO:0005929 9.53 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 NPHP3
11 cation channel complex GO:0034703 9.5 PKD1 PKD1L3 PKD2 PKD2L1
12 membrane-bounded organelle GO:0043227 9.49 PKD2L1 PKD2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.07 PKHD1 NPHP3-ACAD11 NPHP3 IFT88 DZIP1L CEP290
2 monoatomic ion transport GO:0006811 10 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2
3 calcium ion transmembrane transport GO:0070588 10 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
4 non-motile cilium assembly GO:1905515 9.97 CC2D2A CEP290 IFT88 NPHP3
5 determination of left/right symmetry GO:0007368 9.95 PKD2 NPHP3-ACAD11 NPHP3 CC2D2A
6 placenta blood vessel development GO:0060674 9.89 PKD2 PKD1
7 sensory perception of sour taste GO:0050915 9.88 PKD2L1 PKD1L3
8 cytoplasmic sequestering of transcription factor GO:0042994 9.88 PKD2 PKD1
9 determination of liver left/right asymmetry GO:0071910 9.87 PKD2 NPHP3
10 calcium ion transport GO:0006816 9.87 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1
11 mesonephric duct development GO:0072177 9.86 PKD2 PKD1
12 kidney development GO:0001822 9.86 PKHD1 PKD2 PKD1L3 PKD1 NPHP3-ACAD11 NPHP3
13 mesonephric tubule development GO:0072164 9.85 PKD2 PKD1
14 metanephric ascending thin limb development GO:0072218 9.84 PKD2 PKD1
15 detection of nodal flow GO:0003127 9.8 PKD2 PKD1L1
16 ciliary transition zone assembly GO:1905349 9.78 DZIP1L CEP290
17 cell-cell signaling by wnt GO:0198738 9.76 PKD2 PKD1
18 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.73 PKD2L1 PKD1L3
19 convergent extension GO:0060026 9.69 NPHP3-ACAD11 NPHP3
20 detection of mechanical stimulus GO:0050982 9.47 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2 PKD1L1

Molecular functions related to Polycystic Kidney Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monoatomic cation transmembrane transporter activity GO:0008324 9.56 PKD2L1 PKD1L3
2 monoatomic cation channel activity GO:0005261 9.56 PKD2L1 PKD2 PKD1L3 PKD1
3 calcium channel activity GO:0005262 9.47 PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2 PKD1L1
4 sour taste receptor activity GO:0033040 9.46 PKD2L1 PKD1L3

Sources for Polycystic Kidney Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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