PKD
MCID: PLY014
MIFTS: 69

Polycystic Kidney Disease (PKD)

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 12 74 20 43 36 29 6 15 17
Polycystic Kidney Diseases 54 71
Pkd 20 43
Autosomal Dominant Polycystic Kidney Disease 20
Polycystic Kidney, Autosomal Dominant 71
Kidney Disease, Polycystic 39
Polycystic Renal Disease 43
Polycystic Kidneys 20
Adpkd 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0080322
KEGG 36 H00542
ICD10 32 Q61.3
UMLS 71 C0022680 C0085413

Summaries for Polycystic Kidney Disease

MedlinePlus Genetics : 43 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 polycystic kidney disease 1 with or without polycystic liver disease and autosomal dominant polycystic kidney 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 Cargo trafficking to the periciliary membrane. 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 cardiovascular system and craniofacial

Disease Ontology : 12 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.

GARD : 20 Polycystic kidney disease refers 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.

KEGG : 36 Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts.

Wikipedia : 74 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 755)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 1 with or without polycystic liver disease 34.4 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3
2 autosomal dominant polycystic kidney disease 34.3 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3
3 polycystic kidney disease 2 with or without polycystic liver disease 34.2 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3
4 kidney disease 33.8 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3
5 polycystic kidney disease 4 with or without polycystic liver disease 33.6 PKHD1 PKD2 PKD1 MIR15A IFT88 GANAB
6 cystic kidney disease 33.4 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3
7 caroli disease 33.0 PKHD1 PKD2 PKD1
8 congenital hepatic fibrosis 32.9 PKHD1 PKD1 CC2D2A
9 polycystic liver disease 1 with or without kidney cysts 32.8 PKHD1 PKD2 PKD1
10 nephronophthisis 32.8 PKHD1 PKD2 PKD1 NPHP3-ACAD11 MKKS IFT88
11 joubert syndrome 1 32.8 PKHD1 PKD2 PKD1L1 PKD1 IFT88 CEP290
12 orofaciodigital syndrome i 32.6 IFT88 CEP290
13 polycystic liver disease 32.5 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 MIR15A
14 orthostatic intolerance 31.7 PKHD1 PKD2 PKD1
15 bardet-biedl syndrome 31.3 PKHD1 PKD2 PKD1 MKKS IFT88 CEP290
16 meckel syndrome, type 1 31.3 PKHD1 PKD2 PKD1 MKKS IFT88 CEP290
17 meckel syndrome, type 3 31.0 IFT88 CEP290 CC2D2A
18 multicystic dysplastic kidney 31.0 PKD2 PKD1 MKKS
19 nephronophthisis 2 30.9 PKHD1 PKD2 PKD1 IFT88 CEP290 CC2D2A
20 kartagener syndrome 30.9 PKD2 PKD1L1 PKD1 IFT88 CEP290 CC2D2A
21 primary ciliary dyskinesia 30.8 PKD2 PKD1L1 PKD1 IFT88 CEP290 CC2D2A
22 cranioectodermal dysplasia 30.7 IFT88 CEP290 CC2D2A
23 bardet-biedl syndrome 8 30.7 MKKS IFT88 CEP290
24 bardet-biedl syndrome 3 30.7 MKKS IFT88 CEP290
25 bardet-biedl syndrome 1 30.7 MKKS IFT88 CEP290
26 encephalocele 30.5 CEP290 CC2D2A
27 polycystic kidney disease 3 with or without polycystic liver disease 11.9
28 polycystic kidney disease 5 11.8
29 polycystic kidney disease 6 with or without polycystic liver disease 11.7
30 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.7
31 polycystic kidney disease 4 11.6
32 gillessen-kaesbach-nishimura syndrome 11.5
33 diabetes mellitus, neonatal, with congenital hypothyroidism 11.4
34 tubulointerstitial kidney disease, autosomal dominant, 2 11.3
35 episodic kinesigenic dyskinesia 1 11.3
36 orofaciodigital syndrome 11.3
37 potter's syndrome 11.2
38 convulsions, familial infantile, with paroxysmal choreoathetosis 11.2
39 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.2
40 end stage renal disease 11.1
41 nephronophthisis 14 11.1
42 chronic kidney disease 11.0
43 acrorenal syndrome 11.0
44 hypertelorism, teebi type 11.0
45 campomelia, cumming type 11.0
46 bardet-biedl syndrome 12 11.0
47 meckel syndrome 13 11.0
48 aneurysm 10.9
49 pyruvate kinase deficiency of red cells 10.9
50 paroxysmal exertion-induced dyskinesia 10.9

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


Acute Cystitis Acute Kidney Failure
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ANO5 CC2D2A CEP290 HDAC8 IFT88 MKKS
2 craniofacial MP:0005382 9.92 ANO5 CC2D2A CEP290 DZIP1L HDAC8 IFT88
3 digestive/alimentary MP:0005381 9.8 CC2D2A DZIP1L IFT88 PKD1 PKD1L1 PKD2
4 renal/urinary system MP:0005367 9.76 CC2D2A CEP290 DZIP1L IFT88 PKD1 PKD1L1
5 respiratory system MP:0005388 9.56 CC2D2A CEP290 IFT88 MKKS PKD1 PKD1L1
6 taste/olfaction MP:0005394 8.92 CEP290 MKKS PKD1L3 PKD2L1

Drugs & Therapeutics for Polycystic Kidney Disease

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

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
3
Pravastatin Approved Phase 4 81093-37-0 54687
4
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
5
Cilnidipine Investigational Phase 4 132203-70-4 5282138
6
Candesartan Experimental Phase 4 139481-59-7 2541
7 Angiotensin-Converting Enzyme Inhibitors Phase 4
8 Angiotensin II Type 1 Receptor Blockers Phase 4
9 Angiotensinogen Phase 4
10 Giapreza Phase 4
11 Angiotensin Receptor Antagonists Phase 4
12 Calcium, Dietary Phase 4
13 calcium channel blockers Phase 4
14 Adrenergic alpha-Antagonists Phase 4
15 Adrenergic Antagonists Phase 4
16 Adrenergic Agents Phase 4
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
18 Lipid Regulating Agents Phase 4
19 Hypolipidemic Agents Phase 4
20 Antimetabolites Phase 4
21 Anticholesteremic Agents Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Anti-Inflammatory Agents, Non-Steroidal Phase 4
25 Antirheumatic Agents Phase 4
26 Analgesics Phase 4
27
Calcium Nutraceutical Phase 4 7440-70-2 271
28
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
29
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
30
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
31
Metoprolol Approved, Investigational Phase 3 51384-51-1, 37350-58-6 4171
32
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
33
Clonidine Approved Phase 3 4205-90-7 2803
34
Hydralazine Approved Phase 3 86-54-4 3637
35
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
36
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
37
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
38
Lactitol Approved, Investigational Phase 3 585-86-4 157355
39
lanreotide Approved Phase 3 108736-35-2
40
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
41
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
42
Tolvaptan Approved Phase 3 150683-30-0 216237
43
Metformin Approved Phase 3 657-24-9 14219 4091
44
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
45
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
46
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
47
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
48
tannic acid Approved Phase 2, Phase 3 1401-55-4
49
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
50 Triptolide Investigational Phase 3 38748-32-2

Interventional clinical trials:

(show top 50) (show all 144)
# 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 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
5 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Active, not recruiting NCT03949894 Phase 4 Tolvaptan
6 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Active, not recruiting NCT02494141 Phase 4 Curcumin
7 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
8 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
9 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
10 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
11 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
12 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
13 HALT Progression of Polycystic Kidney Disease Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
14 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
15 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
16 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
17 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
18 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
19 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
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 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
22 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
23 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
24 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
25 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
26 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
27 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
28 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
29 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
30 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
31 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
32 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
33 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) Recruiting NCT03523728 Phase 2, Phase 3 Venglustat GZ402671;Placebo
34 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) Recruiting NCT04705051 Phase 3 Venglustat GZ402671
35 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 Recruiting NCT04152837 Phase 3 Lixivaptan
36 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
37 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
38 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) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
39 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
40 A 52-Week, Phase 3, Double-blind, Placebo-controlled, Randomized Study of the Efficacy and Safety of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Not yet recruiting NCT04064346 Phase 3 Lixivaptan;Placebo
41 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
42 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
43 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
44 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
45 Phase II Study for the Second-Line Treatment of Hypertension in Patients With Autosomal Dominant Polycystic Kidney Disease; ACEI vs. CCB Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
46 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Completed NCT02656017 Phase 2 Metformin
47 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Of The Safety, Clinical Activity And Pharmacokinetics Of Bosutinib (PF-05208763) Versus Placebo In Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
48 A Phase 1b/2a, Safety, Pharmacokinetic and Dose-Escalation Study of KD019 ((Tesevatinib) in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)
49 A Multi-center, Parallel-group, Randomized, Double-blind, Placebo-masked, Multiple Dose Trial of Modified-release (MR) and Immediate-release (IR) Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01210560 Phase 2 Tolvaptan MR;Tolvaptan MR;Tolvaptan MR;Tolvaptan IR;Tolvaptan MR
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

Genetic tests related to Polycystic Kidney Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 29

Anatomical Context for Polycystic Kidney Disease

MalaCards organs/tissues related to Polycystic Kidney Disease:

40
Kidney, Liver, Endothelial, Heart, Smooth Muscle, Bone, Pancreas

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 7743)
# Title Authors PMID Year
1
MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation. 61 47
19821056 2010
2
MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. 61 47
18949056 2008
3
Renal cystic diseases in children: new concepts. 54 61
20432012 2010
4
Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes. 61 54
20053665 2010
5
Of mice and men: therapeutic mTOR inhibition in polycystic kidney disease. 61 54
20133481 2010
6
Regulation of ciliary trafficking of polycystin-2 and the pathogenesis of autosomal dominant polycystic kidney disease. 61 54
20197605 2010
7
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 54 61
19766642 2010
8
Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation. 61 54
20096584 2010
9
A mitotic transcriptional switch in polycystic kidney disease. 54 61
19966811 2010
10
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. 61 54
20460933 2010
11
Might there be an association between polycystic kidney disease and noncompaction of the ventricular myocardium? 54 61
19762607 2009
12
Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains. 54 61
19759016 2009
13
Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1. 61 54
19692352 2009
14
Polycystin-1 and -2 dosage regulates pressure sensing. 61 54
19879844 2009
15
Nanomolar potency pyrimido-pyrrolo-quinoxalinedione CFTR inhibitor reduces cyst size in a polycystic kidney disease model. 54 61
19785436 2009
16
Inhibition of PKHD1 may cause S-phase entry via mTOR signaling pathway. 61 54
19524688 2009
17
Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease. 54 61
19397527 2009
18
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 61 54
19346236 2009
19
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. 61 54
19292732 2009
20
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. 61 54
19321600 2009
21
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. 61 54
19285554 2009
22
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 61 54
19165178 2009
23
Detecting the surface localization and cytoplasmic cleavage of membrane-bound proteins. 61 54
20362093 2009
24
Polycystins and primary cilia: primers for cell cycle progression. 61 54
19572811 2009
25
[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease]. 54 61
19936001 2009
26
Retinoic acid-dependent activation of the polycystic kidney disease-1 (PKD1) promoter. 61 54
18922886 2008
27
Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis. 61 54
18694932 2008
28
Chromosomal evolution of the PKD1 gene family in primates. 61 54
18822117 2008
29
The mTOR pathway and its role in human genetic diseases. 61 54
18598780 2008
30
Alpha-aminoazaheterocyclic-methylglyoxal adducts do not inhibit cystic fibrosis transmembrane conductance regulator chloride channel activity. 54 61
18272811 2008
31
Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. 54 61
18175055 2008
32
Calcium, cyclic AMP, and MAP kinases: dysregulation in polycystic kidney disease. 61 54
18195694 2008
33
Haemoglobin and erythropoietin levels in polycystic kidney disease. 61 54
17951311 2008
34
Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. 54 61
17980165 2008
35
Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion. 54 61
18037103 2007
36
Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1. 61 54
17715262 2007
37
PKD1 inhibits cancer cells migration and invasion via Wnt signaling pathway in vitro. 61 54
17437318 2007
38
Serum erythropoietin concentrations and responses to anaemia in patients with or without chronic kidney disease. 61 54
17556407 2007
39
Regulation of the epithelial sodium channel by phosphatidylinositides: experiments, implications, and speculations. 61 54
17605040 2007
40
Rational proteomics of PKD1. I. Modeling the three dimensional structure and ligand specificity of the C_lectin binding domain of Polycystin-1. 61 54
17437137 2007
41
PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease. 54 61
17370309 2007
42
The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family. 54 61
17629917 2007
43
Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. 61 54
17525154 2007
44
Wnt signaling in polycystic kidney disease. 54 61
17429050 2007
45
Involvement of hypoxia-inducible transcription factors in polycystic kidney disease. 61 54
17322369 2007
46
TRPP2 channel regulation. 61 54
17217069 2007
47
Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease. 61 54
17160262 2006
48
Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair? 61 54
17102641 2006
49
Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C. 61 54
16956880 2006
50
Primary cilium formation requires von hippel-lindau gene function in renal-derived cells. 54 61
16849532 2006

Variations for Polycystic Kidney Disease

ClinVar genetic disease variations for Polycystic Kidney Disease:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKHD1 NM_138694.4(PKHD1):c.5081dup (p.Val1695fs) Duplication Pathogenic 374180 rs1057518952 6:51889526-51889527 6:52024728-52024729
2 PKD1 NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) SNV Pathogenic 373937 rs1057518783 16:2160082-2160082 16:2110081-2110081
3 PKD2 NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) Indel Pathogenic 373955 rs1057518797 4:88929242-88929249 4:88008090-88008097
4 PKD1 NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) SNV Pathogenic 374102 rs1057518899 16:2161648-2161648 16:2111647-2111647
5 PKD2 NM_000297.4(PKD2):c.815_816CT[1] (p.Leu273fs) Microsatellite Pathogenic 374198 rs1057518969 4:88957477-88957478 4:88036325-88036326
6 CEP290 NM_025114.4(CEP290):c.5493del (p.Ala1832fs) Deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
7 PKD2 NM_000297.4(PKD2):c.145C>T (p.Gln49Ter) SNV Pathogenic 374110 rs1057518906 4:88929030-88929030 4:88007878-88007878
8 CEP290 NM_025114.4(CEP290):c.3104-2A>G SNV Pathogenic 374210 rs773386777 12:88487754-88487754 12:88093977-88093977
9 PKHD1 NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) SNV Pathogenic 189143 rs181208607 6:51712764-51712764 6:51847966-51847966
10 PKD1 NM_001009944.3(PKD1):c.7818dup (p.His2607fs) Duplication Pathogenic 427767 rs1555452653 16:2155910-2155911 16:2105909-2105910
11 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) Deletion Pathogenic 523354 rs1553927823 4:88986956-88986959 4:88065804-88065807
12 PKD2 NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) Indel Pathogenic 373955 rs1057518797 4:88929242-88929249 4:88008090-88008097
13 PKD1 NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) SNV Pathogenic 523384 rs777269070 16:2140778-2140778 16:2090777-2090777
14 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) SNV Pathogenic 433952 rs747483368 16:2164809-2164809 16:2114808-2114808
15 PKHD1 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) SNV Pathogenic 189110 rs786204707 6:51908434-51908434 6:52043636-52043636
16 PKD1 NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del) Microsatellite Pathogenic 523387 rs1555454847 16:2159267-2159269 16:2109266-2109268
17 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>A SNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
18 CC2D2A NM_001080522.2(CC2D2A):c.4179+1del Deletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
19 PKHD1 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) SNV Pathogenic 189110 rs786204707 6:51908434-51908434 6:52043636-52043636
20 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs) Duplication Pathogenic 2164 rs137854521 11:22242646-22242647 11:22221100-22221101
21 PKD1 NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter) SNV Pathogenic 560353 rs1567155145 16:2142535-2142535 16:2092534-2092534
22 PKHD1 NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) SNV Pathogenic 189026 rs754392766 6:51923153-51923153 6:52058355-52058355
23 PKD1 NM_001009944.3(PKD1):c.2986-1G>A SNV Pathogenic 977303 16:2162965-2162965 16:2112964-2112964
24 PKD1 NC_000016.10:g.2119122_2119126TAAAT[1] Microsatellite Pathogenic 873374 16:2169122-2169126 16:2119121-2119125
25 PKD1 NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs) Insertion Pathogenic 977304 16:2185495-2185496 16:2135494-2135495
26 PKD1 NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs) Deletion Pathogenic 977305 16:2164642-2164648 16:2114641-2114647
27 CC2D2A NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) SNV Pathogenic 978623 4:15538686-15538686 4:15537063-15537063
28 CC2D2A NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter) SNV Pathogenic 978624 4:15569304-15569304 4:15567681-15567681
29 CEP290 NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) SNV Pathogenic 1342 rs137852835 12:88524101-88524101 12:88130324-88130324
30 CEP290 NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) SNV Pathogenic 978630 12:88472904-88472904 12:88079127-88079127
31 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2694-2_2694-1del Deletion Pathogenic 220868 rs751527253 3:132408108-132408109 3:132689264-132689265
32 PKHD1 NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) SNV Pathogenic 4108 rs137852944 6:51947999-51947999 6:52083201-52083201
33 PKHD1 NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) SNV Pathogenic/Likely pathogenic 4108 rs137852944 6:51947999-51947999 6:52083201-52083201
34 PKHD1 NM_138694.4(PKHD1):c.12029A>C (p.Gln4010Pro) SNV Likely pathogenic 977306 6:51484075-51484075 6:51619277-51619277
35 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) SNV Likely pathogenic 523523 rs1556009247 X:71710823-71710823 X:72490973-72490973
36 MKKS NM_170784.2(MKKS):c.956_957CT[1] (p.Leu320fs) Microsatellite Likely pathogenic 523524 rs770908659 20:10393204-10393205 20:10412556-10412557
37 PKHD1 NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) SNV Likely pathogenic 636580 rs367707903 6:51893047-51893047 6:52028249-52028249
38 PKHD1 NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) Deletion Likely pathogenic 828080 rs1446729264 6:51927402-51927403 6:52062604-52062605
39 PKD1 NM_001009944.3:c.3697_3699del Microsatellite Likely pathogenic 873346 16:2161467-2161469 16:2111466-2111468
40 PKD1 NM_001009944.3(PKD1):c.3890_3891insCAC (p.Arg1298_Val1299insThr) Insertion Likely pathogenic 620077 rs1567202189 16:2161277-2161278 16:2111276-2111277
41 DHX34 NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) SNV Likely pathogenic 691941 rs1599751192 19:47856753-47856753 19:47353496-47353496
42 PKD1 NM_001009944.3(PKD1):c.10619-1G>A SNV Likely pathogenic 560354 rs1567159074 16:2144015-2144015 16:2094014-2094014
43 PKD1 NM_001009944.3(PKD1):c.7567_7569GAG[1] (p.Glu2524del) Microsatellite Likely pathogenic 523389 rs1555452876 16:2156223-2156225 16:2106222-2106224
44 PKD1 NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) SNV Likely pathogenic 374119 rs566014072 16:2160322-2160322 16:2110321-2110321
45 PKD1 NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) SNV Likely pathogenic 523386 rs1555459345 16:2169115-2169115 16:2119114-2119114
46 PKD1 NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) SNV Likely pathogenic 374187 rs1057518959 16:2141795-2141795 16:2091794-2091794
47 PKD1 NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) SNV Likely pathogenic 374206 rs1057518976 16:2161383-2161383 16:2111382-2111382
48 PKD1 NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) SNV Uncertain significance 523385 rs932577597 16:2169369-2169369 16:2119368-2119368
49 PKD1 NM_001009944.3(PKD1):c.1827G>A (p.Val609=) SNV Uncertain significance 446474 rs905577227 16:2166015-2166015 16:2116014-2116014
50 PKD1 NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) SNV Uncertain significance 523352 rs760873748 16:2140799-2140799 16:2090798-2090798

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 G6PC glucose-6-phosphatase catalytic subunit 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

Pathways related to Polycystic Kidney Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.83 PKD2 PKD1 MKKS IFT88 CEP290 CC2D2A
2
Show member pathways
11.16 PKD2 PKD1 MKKS

GO Terms for Polycystic Kidney Disease

Cellular components related to Polycystic Kidney Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.04 PKHD1 NPHP3-ACAD11 MKKS IFT88 DZIP1L CEP290
2 cell projection GO:0042995 9.97 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 IFT88
3 motile cilium GO:0031514 9.76 PKD2 PKD1 MKKS IFT88
4 ciliary membrane GO:0060170 9.67 PKD2L1 PKD2 PKD1L1 PKD1
5 ciliary basal body GO:0036064 9.63 PKHD1 PKD2 MKKS IFT88 DZIP1L CEP290
6 calcium channel complex GO:0034704 9.61 PKD2L1 PKD1L1 PKD1
7 non-motile cilium GO:0097730 9.56 PKD2L1 PKD2 PKD1L1 IFT88
8 MKS complex GO:0036038 9.48 CEP290 CC2D2A
9 polycystin complex GO:0002133 9.4 PKD2 PKD1
10 cilium GO:0005929 9.28 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 IFT88
11 cation channel complex GO:0034703 9.26 PKD2L1 PKD2 PKD1L3 PKD1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
2 heart development GO:0007507 9.88 PKD2 PKD1 MKKS CC2D2A
3 determination of left/right symmetry GO:0007368 9.75 PKD2 MKKS CC2D2A
4 cilium assembly GO:0060271 9.73 PKHD1 MKKS IFT88 DZIP1L CEP290 CC2D2A
5 smoothened signaling pathway GO:0007224 9.72 PKD2L1 DZIP1L CC2D2A
6 calcium ion transport GO:0006816 9.72 PKD2L1 PKD2 PKD1L3 PKD1L1 PKD1
7 non-motile cilium assembly GO:1905515 9.69 MKKS IFT88 CC2D2A
8 kidney development GO:0001822 9.63 PKHD1 PKD2 PKD1L3 PKD1 IFT88 CC2D2A
9 protein tetramerization GO:0051262 9.62 PKD2L1 PKD2
10 embryonic placenta development GO:0001892 9.61 PKD2 PKD1
11 inorganic cation transmembrane transport GO:0098662 9.61 PKD2L1 PKD2
12 protein heterotetramerization GO:0051290 9.6 PKD2 PKD1
13 placenta blood vessel development GO:0060674 9.59 PKD2 PKD1
14 cellular response to acidic pH GO:0071468 9.57 PKD2L1 PKD1L3
15 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD2 PKD1
16 calcium ion transmembrane transport GO:0070588 9.56 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
17 mesonephric tubule development GO:0072164 9.54 PKD2 PKD1
18 sensory perception of sour taste GO:0050915 9.52 PKD2L1 PKD1L3
19 metanephric ascending thin limb development GO:0072218 9.49 PKD2 PKD1
20 mesonephric duct development GO:0072177 9.48 PKD2 PKD1
21 detection of nodal flow GO:0003127 9.46 PKD2 PKD1L1
22 cell-cell signaling by wnt GO:0198738 9.43 PKD2 PKD1
23 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.4 PKD2L1 PKD1L3
24 detection of mechanical stimulus GO:0050982 9.23 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 9.56 PKD1L3 PKD1L2 PKD1 GANAB
2 cation transmembrane transporter activity GO:0008324 9.4 PKD2L1 PKD1L3
3 alpha-actinin binding GO:0051393 9.37 PKD2L1 PKD2
4 muscle alpha-actinin binding GO:0051371 9.32 PKD2L1 PKD2
5 cation channel activity GO:0005261 9.26 PKD2L1 PKD2 PKD1L3 PKD1
6 calcium channel activity GO:0005262 9.23 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L3 PKD1L2
7 sour taste receptor activity GO:0033040 9.16 PKD2L1 PKD1L3

Sources for Polycystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....