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ADPKD
MCID: ATS347
MIFTS: 59

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Categories: Blood diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Autosomal Dominant Polycystic Kidney Disease

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MalaCards integrated aliases for Autosomal Dominant Polycystic Kidney Disease:

Name: Autosomal Dominant Polycystic Kidney Disease 12 52 58 15 17
Polycystic Kidney Disease, Autosomal Dominant 24 29 6
Adpkd 24 52 58
Polycystic Kidney Diseases 43 71
Kidney, Polycystic, Disease, Autosomal Dominant 39
Polycystic Kidney and Hepatic Disease 1 12
Polycystic Kidney Disease, Adult Type 52
Polycystic Kidney, Autosomal Dominant 71
Congenital Biliary Ectasias 12

Characteristics:

GeneReviews:

24
Penetrance Penetrance in adpkd is age and genotype dependent. the penetrance of multiple bilateral renal cysts in older adults is close to 100%. however, because the disease is progressive, few cysts may be evident during childhood or young adulthood, especially in individuals with nontruncating pkd1 pathogenic variants or pathogenic variants in pkd2, ganab, or dnajb11.

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Nephrological diseases Reproductive diseases Liver diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare renal diseases
Rare infertility disorders


External Ids:

Disease Ontology 12 DOID:898
ICD9CM 34 753.12
MeSH 43 D007690
NCIt 49 C75464
SNOMED-CT 67 82525005
ICD10 32 Q61.3
ICD10 via Orphanet 33 Q61.2
Orphanet 58 ORPHA730
UMLS 71 C0022680 C0085413
Sources

Summaries for Autosomal Dominant Polycystic Kidney Disease

About this section
NIH Rare Diseases : 52 Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. It is the most common inherited disorder of the kidneys. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. The most common symptoms are pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections , abnormal heart valves, high blood pressure , kidney stones , brain aneurysms , and diverticulosis . About 90 percent of all cases of polycystic kidney disease (PKD) are inherited in an autosomal dominant fashion. ADPKD is caused by mutations in the PKD1 and PKD2 gene . Although there is no cure for ADPKD, treatment can ease symptoms and prolong life.

MalaCards based summary : Autosomal Dominant Polycystic Kidney Disease, also known as polycystic kidney disease, autosomal dominant, is related to polycystic kidney disease 4 and polycystic kidney disease 1 with or without polycystic liver disease. An important gene associated with Autosomal Dominant Polycystic Kidney Disease is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel), and among its related pathways/superpathways are p70S6K Signaling and Phospholipase D signaling pathway. The drugs Candesartan cilexetil and Curcumin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology : 12 A polycystic kidney disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.

GeneReviews: NBK1246
Sources

Related Diseases for Autosomal Dominant Polycystic Kidney Disease

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Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 5 Polycystic Kidney Disease 4
Autosomal Dominant Polycystic Kidney Disease

Diseases related to Autosomal Dominant Polycystic Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 670)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 35.2 REN PKHD1 FGF23 ALB
2 polycystic kidney disease 1 with or without polycystic liver disease 34.3 TSC2 REN PRKD1 PKHD1 PKD2L2 PKD2L1
3 polycystic kidney disease 34.3 TSC2 TRPV4 REN PRKD1 PKHD1 PKDREJ
4 polycystic kidney disease 2 with or without polycystic liver disease 33.9 PRKD1 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2
5 polycystic liver disease 1 with or without kidney cysts 33.8 TSC2 PKHD1 PKD2 PKD1
6 polycystic liver disease 33.7 TRPV4 PRKD1 PKHD1 PKD2 PKD1 MTOR
7 caroli disease 33.6 PKHD1 PKD2 PKD1
8 polycystic kidney disease 3 with or without polycystic liver disease 33.6 PRKD1 PKD1 GANAB
9 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.5 TSC2 PKD1
10 kidney disease 33.2 TSC2 REN PKHD1 PKDREJ PKD2L2 PKD2L1
11 potter's syndrome 33.1 REN PKHD1 ACE
12 end stage renal failure 33.0 REN PKD1 ALB ACE
13 chronic kidney disease 32.4 REN PKD2 PKD1 FGF23 AVP AQP2
14 acute cystitis 32.2 REN ALB ACE
15 nephrolithiasis, calcium oxalate 32.2 REN FGF23 AVP AQP2 ALB ACE
16 pyelonephritis 32.1 AQP2 ALB ACE
17 liver disease 32.1 PKHD1 PKD2 PKD1 GANAB ALB
18 portal hypertension 32.0 PKHD1 CFTR ALB ACE
19 orthostatic intolerance 32.0 PRKD1 PKHD1 PKD2 PKD1 ACE
20 congenital hepatic fibrosis 31.9 PKHD1 PKD1
21 renal hypertension 31.9 REN ALB ACE
22 hypertension, essential 31.8 TRPV4 REN PRKD1 PKD2 PKD1 MTOR
23 iga glomerulonephritis 31.7 REN ALB ACE
24 hypokalemia 31.7 REN AVPR2 AQP2 ALB ACE
25 uremia 31.6 REN ALB ACE
26 microvascular complications of diabetes 3 31.6 REN ALB ACE
27 glomerular disease 31.6 ALB ACE
28 aortic valve insufficiency 31.5 REN ALB ACE
29 congestive heart failure 31.5 REN AQP2 ALB ACE
30 acute kidney tubular necrosis 31.5 REN AVP ALB ACE
31 oligohydramnios 31.5 REN PRKD1 PKHD1 ACE
32 pericardial effusion 31.5 REN ALB ACE
33 cystic kidney disease 31.5 TSC2 TRPV4 REN PRKD1 PKHD1 PKDREJ
34 intestinal obstruction 31.5 MTOR CFTR ALB
35 mitral valve insufficiency 31.4 REN ALB ACE
36 anuria 31.3 REN ALB ACE
37 polycystic kidney disease 4 with or without polycystic liver disease 31.3 TSC2 TRPV4 PRKD1 PKHD1 PKD2 PKD1
38 nephronophthisis 31.3 PRKD1 PKHD1 PKD2 PKD1 MTOR
39 pulmonary embolism 31.3 AVP ALB ACE
40 multicystic dysplastic kidney 31.2 REN PKD2 PKD1
41 urinary tract obstruction 31.2 REN AQP2 ALB ACE
42 pulmonary edema 31.1 TRPV4 REN CFTR ACE
43 interstitial nephritis 31.1 REN ALB ACE
44 hyperphosphatemia 31.1 MTOR FGF23 ALB
45 cardiac arrest 31.1 REN AVP ALB ACE
46 ascending cholangitis 31.1 PRKD1 PKHD1 ALB
47 diabetes insipidus, nephrogenic, autosomal 31.1 REN AVPR2 AVP AQP2
48 diabetes insipidus 31.1 REN AVPR2 AVP AQP2
49 eclampsia 31.1 REN ALB ACE
50 hypertension, diastolic 31.1 REN ACE

Graphical network of the top 20 diseases related to Autosomal Dominant Polycystic Kidney Disease:



Diseases related to Autosomal Dominant Polycystic Kidney Disease
Sources

Symptoms & Phenotypes for Autosomal Dominant Polycystic Kidney Disease

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MGI Mouse Phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ACE ALB AQP2 AVP AVPR2 BICC1
2 cardiovascular system MP:0005385 10.27 ACE ALB BICC1 FGF23 MTOR PKD1
3 behavior/neurological MP:0005386 10.25 ACE AQP2 AVP AVPR2 BICC1 CFTR
4 growth/size/body region MP:0005378 10.23 ACE AQP2 AVPR2 BICC1 CFTR FGF23
5 hematopoietic system MP:0005397 10.21 ACE AQP2 AVP AVPR2 CFTR FGF23
6 mortality/aging MP:0010768 10.2 ACE ALB AQP2 AVP AVPR2 BICC1
7 endocrine/exocrine gland MP:0005379 10.18 ACE ALB BICC1 CFTR FGF23 MTOR
8 renal/urinary system MP:0005367 10 ACE ALB AQP2 AVP AVPR2 BICC1
9 liver/biliary system MP:0005370 9.97 ACE ALB BICC1 CFTR PKD1 PKD2
10 normal MP:0002873 9.96 ALB AVP CFTR MTOR PKD1 PKD2
11 reproductive system MP:0005389 9.65 ACE AQP2 BICC1 CFTR FGF23 PKD1
12 respiratory system MP:0005388 9.17 CFTR FGF23 MTOR PKD1 PKD2 PKHD1
Sources

Drugs & Therapeutics for Autosomal Dominant Polycystic Kidney Disease

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
2
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
3
Pravastatin Approved Phase 4 81093-37-0 54687
4
Cilnidipine Investigational Phase 4 132203-70-4 5282138
5
Candesartan Experimental Phase 4 139481-59-7 2541
6 Adrenergic Agents Phase 4
7 Adrenergic alpha-Antagonists Phase 4
8 Adrenergic Antagonists Phase 4
9 Anti-Inflammatory Agents, Non-Steroidal Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Antirheumatic Agents Phase 4
12 Analgesics Phase 4
13 Hypolipidemic Agents Phase 4
14 Anticholesteremic Agents Phase 4
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
16 Lipid Regulating Agents Phase 4
17 Antimetabolites Phase 4
18
Somatostatin Approved, Investigational Phase 2, Phase 3 51110-01-1, 38916-34-6 53481605
19
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
20
lanreotide Approved Phase 3 108736-35-2
21
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
22
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
23
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
24
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
25
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
26
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
27
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
28
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
29
Metoprolol Approved, Investigational Phase 3 51384-51-1, 37350-58-6 4171
30
Clonidine Approved Phase 3 4205-90-7 2803
31
Metformin Approved Phase 3 657-24-9 14219 4091
32
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
33
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
34
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
35
tannic acid Approved Phase 2, Phase 3 1401-55-4
36
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
37
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
38 Triptolide Investigational Phase 3 38748-32-2
39
Lactitol Investigational Phase 3 585-86-4, 585-88-6 493591
40 Alkylating Agents Phase 3
41 Contraceptive Agents Phase 3
42 Contraceptive Agents, Male Phase 3
43 Liver Extracts Phase 2, Phase 3
44 Gastrointestinal Agents Phase 3
45 HIV Protease Inhibitors Phase 3
46
protease inhibitors Phase 3
47 Giapreza Phase 3
48 Calcium, Dietary Phase 3
49 calcium channel blockers Phase 3
50 Angiotensin-Converting Enzyme Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 135)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Recruiting NCT03949894 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 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
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 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
9 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
10 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
11 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
12 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
13 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
14 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
15 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
16 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
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 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
19 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
20 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
21 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
22 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
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 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
25 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
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 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
28 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
29 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
30 Polycystic Kidney Disease-Treatment Network Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
31 Polycystic Kidney Disease-Treatment Network Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
32 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
33 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
34 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
35 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
36 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
37 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
38 A Study of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Who Experienced Liver Function Test Abnormalities While Receiving Tolvaptan Not yet recruiting NCT04152837 Phase 3 Lixivaptan
39 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
40 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
41 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
42 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
43 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
44 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind, Placebo-masked, Parallel-group Pilot Trial to Compare the Efficacy, Tolerability, and Safety of Tolvaptan Modified-release and Immediate-release Formulations in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
45 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
46 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
47 The Effects of Tolvaptan on Renal Handling of Water and Sodium, Vasoactive Hormones and Central Hemodynamics During Baseline Conditions and After Inhibition of the Nitric Oxide System in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02527863 Phase 2 Tolvaptan;Placebo
48 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
49 A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases Completed NCT03366337 Phase 2 Bardoxolone methyl capsules
50 A Phase 2a, Single-center Study Investigating the Short-term Renal Hemodynamic Effects, Safety and Pharmacokinetics/ Pharmacodynamics of Oral Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease at Various Stages of Renal Function Completed NCT01336972 Phase 2 Tolvaptan

Search NIH Clinical Center for Autosomal Dominant Polycystic Kidney Disease

Cochrane evidence based reviews: polycystic kidney diseases

Sources

Genetic Tests for Autosomal Dominant Polycystic Kidney Disease

About this section

Genetic tests related to Autosomal Dominant Polycystic Kidney Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease, Autosomal Dominant 29
Sources

Anatomical Context for Autosomal Dominant Polycystic Kidney Disease

About this section

The Foundational Model of Anatomy Ontology organs/tissues related to Autosomal Dominant Polycystic Kidney Disease:

19
Kidney

MalaCards organs/tissues related to Autosomal Dominant Polycystic Kidney Disease:

40
Kidney, Liver, Heart, Endothelial, Brain, Bone, Testes
Sources

Publications for Autosomal Dominant Polycystic Kidney Disease

About this section

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 3843)
# Title Authors PMID Year
1
Prevalence of Hypertension in Children with Early-Stage ADPKD. 61 24
29674338 2018
2
Overweight and Obesity Are Predictors of Progression in Early Autosomal Dominant Polycystic Kidney Disease. 61 24
29118087 2018
3
Polycystin-2 is an essential ion channel subunit in the primary cilium of the renal collecting duct epithelium. 61 24
29443690 2018
4
Polycystin and calcium signaling in cell death and survival. 61 24
28601384 2018
5
Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. 61 24
28838955 2017
6
Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. 61 24
29105594 2017
7
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. 61 24
28356211 2017
8
Isolated polycystic liver disease genes define effectors of polycystin-1 function. 61 24
28862642 2017
9
Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies. 61 24
29270497 2017
10
Polycystic Kidney Disease without an Apparent Family History. 61 24
28522688 2017
11
Dietary salt restriction is beneficial to the management of autosomal dominant polycystic kidney disease. 61 24
27993381 2017
12
Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2). 61 24
27991905 2017
13
Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease: A Canadian Expert Consensus. 61 24
28321325 2017
14
The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs. 61 24
27768895 2016
15
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease. 61 24
26823553 2016
16
The polycystin complex mediates Wnt/Ca(2+) signalling. 61 24
27214281 2016
17
Heterotrimeric G protein signaling in polycystic kidney disease. 61 24
27199453 2016
18
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. 61 24
26453610 2016
19
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. 61 24
26932689 2016
20
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. 61 24
27259053 2016
21
Effect of Sirolimus on Disease Progression in Patients with Autosomal Dominant Polycystic Kidney Disease and CKD Stages 3b-4. 61 24
26912555 2016
22
Food Restriction Ameliorates the Development of Polycystic Kidney Disease. 61 24
26538633 2016
23
The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. 61 24
26150605 2016
24
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 61 24
26139440 2016
25
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice. 61 24
26908832 2016
26
A polycystin-centric view of cyst formation and disease: the polycystins revisited. 61 24
26200945 2015
27
Vasopressin and disruption of calcium signalling in polycystic kidney disease. 61 24
25870007 2015
28
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. 61 24
25786098 2015
29
Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism. 61 24
24641620 2015
30
Imaging-based diagnosis of autosomal dominant polycystic kidney disease. 61 24
25074509 2015
31
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 61 24
25574838 2015
32
Towards evidence based emergency medicine: best BETs from the Manchester Royal Infirmary. BET 1: tranexamic acid in life-threatening haematuria. 61 24
25605262 2015
33
Tolvaptan plus pasireotide shows enhanced efficacy in a PKD1 model. 61 24
24994926 2015
34
Liver involvement in early autosomal-dominant polycystic kidney disease. 61 24
25111236 2015
35
Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. 61 24
24904092 2015
36
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease. 61 24
25646624 2015
37
Altered trafficking and stability of polycystins underlie polycystic kidney disease. 61 24
25365220 2014
38
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. 61 24
25263802 2014
39
Angiotensin blockade in late autosomal dominant polycystic kidney disease. 61 24
25399731 2014
40
Blood pressure in early autosomal dominant polycystic kidney disease. 61 24
25399733 2014
41
Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism. 61 24
25405894 2014
42
Polycystic kidney disease and cancer after renal transplantation. 61 24
24854270 2014
43
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 61 24
25333066 2014
44
Chronic kidney pain in autosomal dominant polycystic kidney disease: a case report of successful treatment by catheter-based renal denervation. 61 24
24518126 2014
45
Rationale and design of the DIPAK 1 study: a randomized controlled clinical trial assessing the efficacy of lanreotide to Halt disease progression in autosomal dominant polycystic kidney disease. 61 24
24342522 2014
46
Should patients with autosomal dominant polycystic kidney disease be screened for cerebral aneurysms? 61 24
23292526 2014
47
Effect of longacting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): a randomised, placebo-controlled, multicentre trial. 61 24
23972263 2013
48
Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease. 61 24
23892607 2013
49
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. 61 24
23376035 2013
50
Type of PKD1 mutation influences renal outcome in ADPKD. 61 24
23431072 2013
Sources

Variations for Autosomal Dominant Polycystic Kidney Disease

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ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show top 50) (show all 93) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKD2 NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)SNV Pathogenic 13518 rs121918040 4:88986631-88986631 4:88065479-88065479
2 PKD2 NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)SNV Pathogenic 411870 rs1060503526 4:88959532-88959532 4:88038380-88038380
3 PKD2 NM_000297.4(PKD2):c.1319+1G>ASNV Pathogenic 430967 rs1131692280 4:88964610-88964610 4:88043458-88043458
4 PKD2 NM_000297.4(PKD2):c.514del (p.Asp172fs)deletion Pathogenic 448037 rs1232369409 4:88929396-88929396 4:88008244-88008244
5 PKD2 NC_000004.11:g.(?_88928866)_(88979275_?)deldeletion Pathogenic 477620 4:88928866-88979275 4:88007714-88058123
6 PKD2 NM_000297.4(PKD2):c.1577_1578TA[1] (p.Tyr527fs)short repeat Pathogenic 477623 rs1553926509 4:88973170-88973171 4:88052018-88052019
7 PKD2 NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)SNV Pathogenic 477625 rs1553926905 4:88977295-88977295 4:88056143-88056143
8 PKD2 NM_000297.4(PKD2):c.203dup (p.Ala69fs)duplication Pathogenic 477627 rs1187336837 4:88929082-88929083 4:88007930-88007931
9 PKD2 NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)SNV Pathogenic 543947 rs1302726543 4:88940651-88940651 4:88019499-88019499
10 PKD1 NM_001009944.3(PKD1):c.7622del (p.Pro2541fs)deletion Pathogenic 559836 rs1555452849 16:2156173-2156173 16:2106172-2106172
11 PKD2 NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)SNV Pathogenic 562318 rs749004212 4:88959517-88959517 4:88038365-88038365
12 PKD2 NC_000004.11:g.(?_88928866)_(88996866_?)deldeletion Pathogenic 584210 4:88928866-88996866 4:88007714-88075714
13 PKD2 NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)SNV Pathogenic 573710 rs1391596181 4:88967799-88967799 4:88046647-88046647
14 PKD2 NM_000297.4(PKD2):c.443del (p.Gly148fs)deletion Pathogenic 577770 rs1560592253 4:88929326-88929326 4:88008174-88008174
15 GANAB NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)deletion Pathogenic 590347 rs750723025 11:62414056-62414061 11:62646584-62646589
16 PKD2 NM_000297.4(PKD2):c.473del (p.Glu158fs)deletion Pathogenic 639450 4:88929358-88929358 4:88008206-88008206
17 PKD2 NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)SNV Pathogenic/Likely pathogenic 448039 rs1553925453 4:88959523-88959523 4:88038371-88038371
18 PKD2 NM_000297.4(PKD2):c.2019+1G>ASNV Likely pathogenic 477626 rs1553927080 4:88979256-88979256 4:88058104-88058104
19 PKD2 NM_000297.4(PKD2):c.1094+3_1094+6deldeletion Conflicting interpretations of pathogenicity 434014 rs1553925470 4:88959654-88959657 4:88038502-88038505
20 PKD2 NM_000297.4(PKD2):c.356G>A (p.Arg119His)SNV Conflicting interpretations of pathogenicity 350014 rs748654180 4:88929241-88929241 4:88008089-88008089
21 PKD2 NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln)SNV Conflicting interpretations of pathogenicity 350030 rs150947109 4:88996659-88996659 4:88075507-88075507
22 PKD2 NM_000297.4(PKD2):c.2814A>G (p.Gln938=)SNV Conflicting interpretations of pathogenicity 350031 rs573469832 4:88996753-88996753 4:88075601-88075601
23 PKD2 NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)SNV Conflicting interpretations of pathogenicity 237628 rs143581690 4:88968020-88968020 4:88046868-88046868
24 PKD2 NM_000297.4(PKD2):c.2388A>G (p.Leu796=)SNV Conflicting interpretations of pathogenicity 350029 rs535577967 4:88989079-88989079 4:88067927-88067927
25 PKD2 NM_000297.4(PKD2):c.2295T>C (p.Asp765=)SNV Conflicting interpretations of pathogenicity 350028 rs138982773 4:88986968-88986968 4:88065816-88065816
26 PKD2 NM_000297.4(PKD2):c.2829C>T (p.Ser943=)SNV Conflicting interpretations of pathogenicity 350032 rs138495345 4:88996768-88996768 4:88075616-88075616
27 PKD2 NM_000297.4(PKD2):c.*174G>TSNV Uncertain significance 350033 rs187001642 4:88997020-88997020 4:88075868-88075868
28 PKD2 NM_000297.4(PKD2):c.*507T>GSNV Uncertain significance 350038 rs772523897 4:88997353-88997353 4:88076201-88076201
29 PKD2 NM_000297.4(PKD2):c.*1588G>ASNV Uncertain significance 350050 rs758211189 4:88998434-88998434 4:88077282-88077282
30 PKD2 NM_000297.4(PKD2):c.*1997T>CSNV Uncertain significance 350055 rs375324508 4:88998843-88998843 4:88077691-88077691
31 PKD2 NM_000297.4(PKD2):c.-68A>GSNV Uncertain significance 350008 rs547865163 4:88928818-88928818 4:88007666-88007666
32 PKD2 NM_000297.4(PKD2):c.103G>A (p.Ala35Thr)SNV Uncertain significance 350011 rs759263638 4:88928988-88928988 4:88007836-88007836
33 PKD2 NM_000297.4(PKD2):c.154C>A (p.Leu52Met)SNV Uncertain significance 350012 rs886059694 4:88929039-88929039 4:88007887-88007887
34 PKD2 NM_000297.4(PKD2):c.402G>A (p.Val134=)SNV Uncertain significance 350015 rs886059696 4:88929287-88929287 4:88008135-88008135
35 PKD2 NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr)SNV Uncertain significance 350021 rs144431856 4:88964438-88964438 4:88043286-88043286
36 PKD2 NM_000297.4(PKD2):c.1836T>C (p.Ala612=)SNV Uncertain significance 350024 rs145952917 4:88977357-88977357 4:88056205-88056205
37 PKD2 NM_000297.4(PKD2):c.-64C>TSNV Uncertain significance 350009 rs886059693 4:88928822-88928822 4:88007670-88007670
38 PKD2 NM_000297.4(PKD2):c.2240+10A>GSNV Uncertain significance 350026 rs201679112 4:88986657-88986657 4:88065505-88065505
39 PKD2 NM_000297.4(PKD2):c.*184dupduplication Uncertain significance 350034 rs533244915 4:88997021-88997022 4:88075869-88075870
40 PKD2 NM_000297.4(PKD2):c.*239T>GSNV Uncertain significance 350036 rs147418332 4:88997085-88997085 4:88075933-88075933
41 PKD2 NM_000297.4(PKD2):c.*604G>ASNV Uncertain significance 350041 rs377022187 4:88997450-88997450 4:88076298-88076298
42 PKD2 NM_000297.4(PKD2):c.*744G>ASNV Uncertain significance 350042 rs886059706 4:88997590-88997590 4:88076438-88076438
43 PKD2 NM_000297.4(PKD2):c.*794C>ASNV Uncertain significance 350043 rs370387859 4:88997640-88997640 4:88076488-88076488
44 PKD2 NM_000297.4(PKD2):c.*1221T>CSNV Uncertain significance 350047 rs577956232 4:88998067-88998067 4:88076915-88076915
45 PKD2 NM_000297.4(PKD2):c.*1357_*1359CTT[1]short repeat Uncertain significance 350049 rs886059708 4:88998202-88998204 4:88077050-88077052
46 PKD2 NM_000297.4(PKD2):c.*1654T>CSNV Uncertain significance 350052 rs778483971 4:88998500-88998500 4:88077348-88077348
47 PKD2 NM_000297.4(PKD2):c.*1826A>GSNV Uncertain significance 350053 rs189817187 4:88998672-88998672 4:88077520-88077520
48 PKD2 NM_000297.4(PKD2):c.-82G>ASNV Uncertain significance 350006 rs529779778 4:88928804-88928804 4:88007652-88007652
49 PKD2 NM_000297.4(PKD2):c.*1611T>GSNV Uncertain significance 350051 rs886059709 4:88998457-88998457 4:88077305-88077305
50 PKD2 NM_000297.4(PKD2):c.901A>G (p.Thr301Ala)SNV Uncertain significance 220406 rs759567768 4:88959460-88959460 4:88038308-88038308
Sources

Expression for Autosomal Dominant Polycystic Kidney Disease

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Search GEO for disease gene expression data for Autosomal Dominant Polycystic Kidney Disease.
Sources

Pathways for Autosomal Dominant Polycystic Kidney Disease

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

# Super pathways Score Top Affiliating Genes
1
p70S6K Signaling 63
Show member pathways
 12.32 TSC2 REN PRKD1 MTOR FGF23 ACE
2
Phospholipase D signaling pathway 36
Show member pathways
 11.85 TSC2 MTOR AVPR2 AVP
3
Vasopressin-regulated water reabsorption 36
10.44 AVPR2 AVP AQP2
Sources

GO Terms for Autosomal Dominant Polycystic Kidney Disease

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 TSC2 TRPV4 REN PRKD1 PKHD1 PKDREJ
2 integral component of plasma membrane GO:0005887 10.02 TRPV4 PKD2L1 PKD2 PKD1 CFTR AVPR2
3 cell GO:0005623 10 TRPV4 PKHD1 PKD2 PKD1 FGF23 CFTR
4 endoplasmic reticulum GO:0005783 9.81 TRPV4 PKD2L1 PKD2 PKD1 MTOR GANAB
5 cilium GO:0005929 9.72 TRPV4 PKHD1 PKD2L1 PKD2 PKD1
6 ciliary membrane GO:0060170 9.61 PKD2L1 PKD2 PKD1
7 Golgi apparatus GO:0005794 9.61 TSC2 PRKD1 PKD2 PKD1 MTOR GANAB
8 clathrin-coated vesicle membrane GO:0030665 9.54 CFTR AVPR2 AVP
9 polycystin complex GO:0002133 9.26 PKD2 PKD1
10 cation channel complex GO:0034703 8.8 PKD2L1 PKD2 PKD1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10 TRPV4 PKDREJ PKD2L2 PKD2L1 PKD2 CFTR
2 positive regulation of gene expression GO:0010628 9.97 TRPV4 PKD2 MTOR AVPR2 AVP
3 heart development GO:0007507 9.91 TSC2 PKD2 PKD1 BICC1
4 cellular calcium ion homeostasis GO:0006874 9.81 TRPV4 PKHD1 PKD2
5 positive regulation of cytosolic calcium ion concentration GO:0007204 9.81 TRPV4 PKD2 PKD1 AVP
6 calcium ion transport GO:0006816 9.8 TRPV4 PKD2L1 PKD2 PKD1
7 protein homotetramerization GO:0051289 9.78 PKD2L1 PKD2 AQP2
8 amyloid-beta metabolic process GO:0050435 9.63 REN ACE
9 placenta blood vessel development GO:0060674 9.62 PKD2 PKD1
10 angiotensin maturation GO:0002003 9.62 REN ACE
11 spinal cord development GO:0021510 9.61 PKD2 PKD1 MTOR
12 cellular response to osmotic stress GO:0071470 9.6 TRPV4 PKD2
13 anoikis GO:0043276 9.59 TSC2 MTOR
14 cytoplasmic sequestering of transcription factor GO:0042994 9.58 PKD2 PKD1
15 renal water homeostasis GO:0003091 9.58 AVPR2 AVP AQP2
16 metanephric collecting duct development GO:0072205 9.57 PKD1 AQP2
17 mesonephric tubule development GO:0072164 9.56 PKD2 PKD1
18 mesonephric duct development GO:0072177 9.55 PKD2 PKD1
19 kidney development GO:0001822 9.55 REN PKHD1 PKD2 PKD1 ACE
20 hyperosmotic salinity response GO:0042538 9.54 TRPV4 AVP
21 positive regulation of systemic arterial blood pressure GO:0003084 9.5 AVPR2 AVP ACE
22 inorganic cation transmembrane transport GO:0098662 9.48 PKD2L1 PKD2
23 metanephric ascending thin limb development GO:0072218 9.46 PKD2 PKD1
24 multicellular organismal water homeostasis GO:0050891 9.43 TRPV4 CFTR AVP
25 calcium ion transmembrane transport GO:0070588 9.43 TRPV4 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1
26 cell-cell signaling by wnt GO:0198738 9.37 PKD2 PKD1
27 detection of mechanical stimulus GO:0050982 9.02 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 TSC2 TRPV4 REN PRKD1 PKHD1 PKDREJ
2 cation channel activity GO:0005261 9.13 TRPV4 PKD2L1 PKD2
3 calcium channel activity GO:0005262 9.1 TRPV4 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1
Sources

Sources for Autosomal Dominant Polycystic Kidney Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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