ADPKD
MCID: ATS347
MIFTS: 65

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Categories: Blood diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Autosomal Dominant Polycystic Kidney Disease

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:

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
ICD10 32 Q61.3
ICD10 via Orphanet 33 Q61.2
Orphanet 58 ORPHA730
UMLS 71 C0022680 C0085413

Summaries for Autosomal Dominant Polycystic Kidney Disease

NIH Rare Diseases : 52 Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. Symptoms vary in severity and age of onset, but usually develop between the ages of 30 and 40. ADPKD is a progressive disease and symptoms tend to get worse over time. The most common symptoms are kidney cysts, 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, and brain aneurysms. ADPKD is most often caused by changes in the PKD1 and PKD2 genes , and less often by changes in the GANAB and DNAJB11 genes. It is inherited in a dominant pattern. Treatment for ADPKD involves managing the symptoms and slowing disease progression. The most serious complication of ADPKD is kidney disease and kidney failure. ADPKD is the most common inherited disorder of the kidneys.

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 Phospholipase D signaling pathway and Vasopressin-regulated water reabsorption. The drugs Candesartan cilexetil and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are renal cyst and elevated serum creatinine

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

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

(show top 50) (show all 659)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 35.3 PKHD1 ALB
2 polycystic kidney disease 1 with or without polycystic liver disease 34.4 TSC2 REN PRKD1 PKHD1 PKD2L1 PKD2
3 polycystic kidney disease 2 with or without polycystic liver disease 34.4 TRPV4 PRKD1 PKHD1 PKDREJ PKD2L2 PKD2L1
4 polycystic kidney disease 34.3 TSC2 TRPV4 REN PRKD1 PKHD1 PKDREJ
5 polycystic liver disease 1 with or without kidney cysts 33.7 TSC2 PKHD1 PKD2 PKD1 HNF1B
6 polycystic kidney disease 3 with or without polycystic liver disease 33.7 PRKD1 PKD2 PKD1 GANAB
7 polycystic liver disease 33.6 TRPV4 PRKD1 PKHD1 PKD2L1 PKD2 PKD1
8 caroli disease 33.6 PKHD1 PKD2 PKD1 HNF1B
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 disease 33.0 REN PKD2 PKD1 ALB ACE
13 chronic kidney disease 32.4 REN PKD2 PKD1 HNF1B AVP AQP2
14 acute cystitis 32.2 REN ALB ACE
15 pyelonephritis 32.1 AQP2 ALB ACE
16 liver disease 32.1 PKHD1 PKD2 PKD1 GANAB ALB
17 portal hypertension 32.0 PKHD1 CFTR ALB ACE
18 orthostatic intolerance 31.9 REN PRKD1 PKHD1 PKD2 PKD1 ACE
19 congenital hepatic fibrosis 31.8 PKHD1 PKD1
20 renal hypertension 31.8 REN ALB ACE
21 hypertension, essential 31.8 TRPV4 REN PRKD1 PKD2 PKD1 MTOR
22 glomerular disease 31.7 ALB ACE
23 hypokalemia 31.7 REN AVPR2 AQP2 ALB ACE
24 iga glomerulonephritis 31.6 REN ALB ACE
25 microvascular complications of diabetes 3 31.6 REN ALB ACE
26 uremia 31.6 REN ALB ACE
27 cystic kidney disease 31.5 TSC2 TRPV4 REN PRKD1 PKHD1 PKDREJ
28 congestive heart failure 31.5 REN AQP2 ALB ACE
29 aortic valve insufficiency 31.5 REN ALB ACE
30 acute kidney tubular necrosis 31.5 REN ALB ACE
31 pericardial effusion 31.5 REN ALB ACE
32 oligohydramnios 31.5 REN PKHD1 HNF1B ACE
33 intestinal obstruction 31.4 MTOR CFTR ALB
34 mitral valve insufficiency 31.4 REN ALB ACE
35 anuria 31.3 REN ALB ACE
36 nephronophthisis 31.3 PRKD1 PKHD1 PKD2 PKD1 MTOR HNF1B
37 polycystic kidney disease 4 with or without polycystic liver disease 31.3 TSC2 TRPV4 PRKD1 PKHD1 PKD2 PKD1
38 multicystic dysplastic kidney 31.2 REN PKD2 PKD1
39 urinary tract obstruction 31.2 REN AQP2 ALB ACE
40 tricuspid valve disease 31.2 REN ALB ACE
41 horseshoe kidney 31.1 TSC2 REN HNF1B
42 pulmonary edema 31.1 TRPV4 REN CFTR ACE
43 interstitial nephritis 31.1 REN ALB ACE
44 cardiac arrest 31.1 REN AVP ALB ACE
45 ascending cholangitis 31.1 PRKD1 PKHD1 ALB
46 hypertension, diastolic 31.1 REN ACE
47 diabetes insipidus, nephrogenic, autosomal 31.0 REN AVPR2 AVP AQP2
48 diabetes insipidus 31.0 REN AVPR2 AVP AQP2
49 pulmonary embolism 31.0 AVP ALB ACE
50 eclampsia 31.0 REN ALB ACE

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



Diseases related to Autosomal Dominant Polycystic Kidney Disease

Symptoms & Phenotypes for Autosomal Dominant Polycystic Kidney Disease

Human phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0000107
2 elevated serum creatinine 58 31 hallmark (90%) Very frequent (99-80%) HP:0003259
3 decreased glomerular filtration rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0012213
4 hepatic cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0001407
5 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 stage 5 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0003774
8 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
9 abnormal urinary electrolyte concentration 58 31 frequent (33%) Frequent (79-30%) HP:0012591
10 albuminuria 58 31 frequent (33%) Frequent (79-30%) HP:0012592
11 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
12 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
13 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
14 enlarged kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000105
15 pancreatic cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0001737
16 aortic root aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002616
17 pyelonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012330
18 polycystic liver disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0006557
19 arachnoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100702
20 dilatation of the cerebral artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004944
21 reduced sperm motility 58 31 occasional (7.5%) Occasional (29-5%) HP:0012207
22 pituitary growth hormone cell adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0011760
23 renal insufficiency 58 Very frequent (99-80%)
24 chronic kidney disease 58 Frequent (79-30%)
25 abnormal systemic arterial morphology 58 Occasional (29-5%)

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.66 MTOR PKD1
2 Decreased viability GR00055-A-2 9.66 MTOR PKD1
3 Decreased viability GR00221-A-1 9.66 MTOR
4 Decreased viability GR00221-A-4 9.66 MTOR
5 Decreased viability GR00240-S-1 9.66 BICC1
6 Decreased viability GR00249-S 9.66 ALB HNF1B PKD2 PKD2L1 TRPV4
7 Decreased viability GR00301-A 9.66 PKD2
8 Decreased viability GR00342-S-1 9.66 MTOR
9 Decreased viability GR00342-S-2 9.66 MTOR
10 Decreased viability GR00381-A-1 9.66 AVPR2
11 Decreased viability GR00381-A-3 9.66 AVPR2
12 Decreased viability GR00386-A-1 9.66 ALB AVP HNF1B
13 Decreased viability GR00402-S-2 9.66 AVP PRKD1

MGI Mouse Phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 ACE ALB AQP2 AVP AVPR2 BICC1
2 cardiovascular system MP:0005385 10.24 ACE ALB BICC1 MTOR PKD1 PKD2
3 growth/size/body region MP:0005378 10.23 ACE AQP2 AVPR2 BICC1 CFTR HNF1B
4 hematopoietic system MP:0005397 10.21 ACE AQP2 AVP AVPR2 CFTR MTOR
5 endocrine/exocrine gland MP:0005379 10.18 ACE ALB BICC1 CFTR HNF1B MTOR
6 mortality/aging MP:0010768 10.13 ACE ALB AQP2 AVP AVPR2 BICC1
7 immune system MP:0005387 10.11 ACE ALB AVP CFTR HNF1B MTOR
8 liver/biliary system MP:0005370 9.97 ACE ALB BICC1 CFTR HNF1B PKD1
9 normal MP:0002873 9.85 ALB AVP CFTR MTOR PKD1 PKD2
10 renal/urinary system MP:0005367 9.8 ACE ALB AQP2 AVP AVPR2 BICC1
11 reproductive system MP:0005389 9.28 ACE AQP2 BICC1 CFTR PKD1 PKDREJ

Drugs & Therapeutics for Autosomal Dominant Polycystic Kidney Disease

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

(show top 50) (show all 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
2
Pravastatin Approved Phase 4 81093-37-0 54687
3
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
4
Cilnidipine Investigational Phase 4 132203-70-4 5282138
5
Candesartan Experimental Phase 4 139481-59-7 2541
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic Agents Phase 4
9 Hypolipidemic Agents Phase 4
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
11 Lipid Regulating Agents Phase 4
12 Anticholesteremic Agents Phase 4
13 Antimetabolites Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Analgesics Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Antirheumatic Agents Phase 4
18
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
19
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
20
lanreotide Approved Phase 3 108736-35-2
21
Spironolactone Approved Phase 3 52-01-7, 1952-01-7 5833
22
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
23
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
24
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
25
Lisinopril Approved, Investigational Phase 3 76547-98-3, 83915-83-7 5362119
26
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
27
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
28
Hydralazine Approved Phase 3 86-54-4 3637
29
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
30
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
31
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
32
Clonidine Approved Phase 3 4205-90-7 2803
33
Metformin Approved Phase 3 657-24-9 14219 4091
34
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
35
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
36
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
37
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
38
tannic acid Approved Phase 2, Phase 3 1401-55-4
39
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
40 Triptolide Investigational Phase 3 38748-32-2
41 Liver Extracts Phase 2, Phase 3
42 Contraceptive Agents, Male Phase 3
43 Alkylating Agents Phase 3
44 Contraceptive Agents Phase 3
45 Gastrointestinal Agents Phase 3
46 Angiotensinogen Phase 3
47 Angiotensin Receptor Antagonists Phase 3
48 Angiotensin-Converting Enzyme Inhibitors Phase 3
49 Giapreza Phase 3
50 HIV Protease Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 141)
# 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 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
5 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 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 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 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
31 HALT Progression of Polycystic Kidney Disease Study A 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 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 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 A Phase 2, Open-Label, Multi-Center Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT03487913 Phase 2 Lixivaptan
48 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
49 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
50 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

Search NIH Clinical Center for Autosomal Dominant Polycystic Kidney Disease

Cochrane evidence based reviews: polycystic kidney diseases

Genetic Tests for Autosomal Dominant Polycystic Kidney Disease

Genetic tests related to Autosomal Dominant Polycystic Kidney Disease:

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

Anatomical Context for Autosomal Dominant Polycystic Kidney Disease

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, Endothelial, Heart, Brain, Testes, Bone

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 3928)
# Title Authors PMID Year
1
Prevalence of Hypertension in Children with Early-Stage ADPKD. 24 61
29674338 2018
2
Overweight and Obesity Are Predictors of Progression in Early Autosomal Dominant Polycystic Kidney Disease. 24 61
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
Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. 61 24
29105594 2017
6
Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. 61 24
28838955 2017
7
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. 24 61
28356211 2017
8
Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies. 61 24
29270497 2017
9
Polycystic Kidney Disease without an Apparent Family History. 24 61
28522688 2017
10
Isolated polycystic liver disease genes define effectors of polycystin-1 function. 61 24
28862642 2017
11
Dietary salt restriction is beneficial to the management of autosomal dominant polycystic kidney disease. 24 61
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. 24 61
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
Heterotrimeric G protein signaling in polycystic kidney disease. 24 61
27199453 2016
17
The polycystin complex mediates Wnt/Ca(2+) signalling. 61 24
27214281 2016
18
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. 61 24
26932689 2016
19
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. 24 61
27259053 2016
20
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. 61 24
26453610 2016
21
Food Restriction Ameliorates the Development of Polycystic Kidney Disease. 24 61
26538633 2016
22
Effect of Sirolimus on Disease Progression in Patients with Autosomal Dominant Polycystic Kidney Disease and CKD Stages 3b-4. 61 24
26912555 2016
23
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
24
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 24 61
26139440 2016
25
The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. 61 24
26150605 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. 24 61
25074509 2015
31
Towards evidence based emergency medicine: best BETs from the Manchester Royal Infirmary. BET 1: tranexamic acid in life-threatening haematuria. 61 24
25605262 2015
32
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 61 24
25574838 2015
33
Liver involvement in early autosomal-dominant polycystic kidney disease. 61 24
25111236 2015
34
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease. 61 24
25646624 2015
35
Tolvaptan plus pasireotide shows enhanced efficacy in a PKD1 model. 61 24
24994926 2015
36
Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. 61 24
24904092 2015
37
Angiotensin blockade in late autosomal dominant polycystic kidney disease. 61 24
25399731 2014
38
Blood pressure in early autosomal dominant polycystic kidney disease. 61 24
25399733 2014
39
Altered trafficking and stability of polycystins underlie polycystic kidney disease. 24 61
25365220 2014
40
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. 24 61
25263802 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. 24 61
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. 24 61
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
Type of PKD1 mutation influences renal outcome in ADPKD. 24 61
23431072 2013
50
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. 61 24
23376035 2013

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKD2 NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)SNV Pathogenic 411870 rs1060503526 4:88959532-88959532 4:88038380-88038380
2 PKD2 NM_000297.4(PKD2):c.1319+1G>ASNV Pathogenic 430967 rs1131692280 4:88964610-88964610 4:88043458-88043458
3 PKD2 NM_000297.4(PKD2):c.514del (p.Asp172fs)deletion Pathogenic 448037 rs1232369409 4:88929396-88929396 4:88008244-88008244
4 PKD2 NC_000004.12:g.(?_88007714)_(88058123_?)deldeletion Pathogenic 477620 4:88928866-88979275 4:88007714-88058123
5 PKD2 NM_000297.4(PKD2):c.1577_1578TA[1] (p.Tyr527fs)short repeat Pathogenic 477623 rs1553926509 4:88973170-88973171 4:88052018-88052019
6 PKD1 NM_001009944.3(PKD1):c.7622del (p.Pro2541fs)deletion Pathogenic 559836 rs1555452849 16:2156173-2156173 16:2106172-2106172
7 PKD2 NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)SNV Pathogenic 562318 rs749004212 4:88959517-88959517 4:88038365-88038365
8 PKD2 NC_000004.12:g.(?_88007714)_(88075714_?)deldeletion Pathogenic 584210 4:88928866-88996866 4:88007714-88075714
9 PKD2 NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)SNV Pathogenic 573710 rs1391596181 4:88967799-88967799 4:88046647-88046647
10 PKD2 NM_000297.4(PKD2):c.443del (p.Gly148fs)deletion Pathogenic 577770 rs1560592253 4:88929326-88929326 4:88008174-88008174
11 PKD2 NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)SNV Pathogenic 477625 rs1553926905 4:88977295-88977295 4:88056143-88056143
12 PKD2 NM_000297.4(PKD2):c.203dup (p.Ala69fs)duplication Pathogenic 477627 rs1187336837 4:88929082-88929083 4:88007930-88007931
13 PKD2 NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)SNV Pathogenic 543947 rs1302726543 4:88940651-88940651 4:88019499-88019499
14 GANAB NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)deletion Pathogenic 590347 rs750723025 11:62414056-62414061 11:62646584-62646589
15 PKD2 NM_000297.4(PKD2):c.473del (p.Glu158fs)deletion Pathogenic 639450 4:88929358-88929358 4:88008206-88008206
16 PKD2 NC_000004.12:g.(?_88038231)_(88075714_?)deldeletion Pathogenic 832516 4:88959383-88996866
17 PKD2 NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)SNV Pathogenic 13518 rs121918040 4:88986631-88986631 4:88065479-88065479
18 PKD2 NM_000297.4(PKD2):c.1094+3_1094+6deldeletion Pathogenic/Likely pathogenic 434014 rs1553925470 4:88959654-88959657 4:88038502-88038505
19 PKD2 NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)SNV Pathogenic/Likely pathogenic 448039 rs1553925453 4:88959523-88959523 4:88038371-88038371
20 PKD2 NM_000297.4(PKD2):c.2019+1G>ASNV Likely pathogenic 477626 rs1553927080 4:88979256-88979256 4:88058104-88058104
21 PKD2 NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)SNV Conflicting interpretations of pathogenicity 219985 rs2234917 4:88989089-88989089 4:88067937-88067937
22 PKD2 NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)SNV Conflicting interpretations of pathogenicity 237628 rs143581690 4:88968020-88968020 4:88046868-88046868
23 PKD2 NM_000297.4(PKD2):c.784G>A (p.Val262Met)SNV Conflicting interpretations of pathogenicity 287394 rs138132026 4:88957446-88957446 4:88036294-88036294
24 PKD2 NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)SNV Conflicting interpretations of pathogenicity 289403 rs145343957 4:88989102-88989102 4:88067950-88067950
25 PKD2 NM_000297.4(PKD2):c.2829C>T (p.Ser943=)SNV Conflicting interpretations of pathogenicity 350032 rs138495345 4:88996768-88996768 4:88075616-88075616
26 PKD2 NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)SNV Conflicting interpretations of pathogenicity 434012 rs371898195 4:88929246-88929246 4:88008094-88008094
27 PKD2 NM_000297.4(PKD2):c.441G>A (p.Ala147=)SNV Conflicting interpretations of pathogenicity 695221 4:88929326-88929326 4:88008174-88008174
28 PKD2 NM_000297.4(PKD2):c.587G>C (p.Gly196Ala)SNV Uncertain significance 643620 4:88929472-88929472 4:88008320-88008320
29 PKD2 NM_000297.4(PKD2):c.961A>G (p.Ile321Val)SNV Uncertain significance 645795 4:88959520-88959520 4:88038368-88038368
30 PKD2 NM_000297.4(PKD2):c.965G>T (p.Arg322Leu)SNV Uncertain significance 646138 4:88959524-88959524 4:88038372-88038372
31 PKD2 NM_000297.4(PKD2):c.1577T>A (p.Ile526Lys)SNV Uncertain significance 651562 4:88973171-88973171 4:88052019-88052019
32 PKD2 NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn)SNV Uncertain significance 653583 4:88977394-88977394 4:88056242-88056242
33 PKD2 NM_000297.4(PKD2):c.2162C>G (p.Thr721Ser)SNV Uncertain significance 646091 4:88986569-88986569 4:88065417-88065417
34 PKD2 NM_000297.4(PKD2):c.109G>A (p.Gly37Ser)SNV Uncertain significance 659676 4:88928994-88928994 4:88007842-88007842
35 PKD2 NM_000297.4(PKD2):c.133G>A (p.Gly45Ser)SNV Uncertain significance 663883 4:88929018-88929018 4:88007866-88007866
36 PKD2 NM_000297.4(PKD2):c.245G>C (p.Cys82Ser)SNV Uncertain significance 663892 4:88929130-88929130 4:88007978-88007978
37 PKD2 NM_000297.4(PKD2):c.1492C>G (p.His498Asp)SNV Uncertain significance 477622 rs1553926080 4:88967966-88967966 4:88046814-88046814
38 PKD2 NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)SNV Uncertain significance 477621 rs375164861 4:88959616-88959616 4:88038464-88038464
39 PKD2 NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe)SNV Uncertain significance 569543 rs755666887 4:88977337-88977337 4:88056185-88056185
40 GANAB NM_198334.3(GANAB):c.1817C>G (p.Ala606Gly)SNV Uncertain significance 590356 rs1565093575 11:62397077-62397077 11:62629605-62629605
41 GANAB NM_198334.3(GANAB):c.1541A>C (p.Asn514Thr)SNV Uncertain significance 590355 rs1565094929 11:62397721-62397721 11:62630249-62630249
42 PKD2 NM_000297.4(PKD2):c.1542C>T (p.Ile514=)SNV Uncertain significance 350023 rs145716012 4:88968016-88968016 4:88046864-88046864
43 PKD2 NM_000297.4(PKD2):c.*512_*513deldeletion Uncertain significance 350039 rs570887943 4:88997356-88997357 4:88076204-88076205
44 PKD2 NM_000297.4(PKD2):c.*184dupduplication Uncertain significance 350034 rs533244915 4:88997021-88997022 4:88075869-88075870
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.901A>G (p.Thr301Ala)SNV Uncertain significance 220406 rs759567768 4:88959460-88959460 4:88038308-88038308
47 PKD2 NM_000297.4(PKD2):c.377_400dup (p.Ala126_Ser133dup)duplication Uncertain significance 849237 4:88929260-88929261 4:88008108-88008109
48 PKD2 NM_000297.4(PKD2):c.554C>G (p.Pro185Arg)SNV Uncertain significance 838482 4:88929439-88929439 4:88008287-88008287
49 PKD2 NM_000297.4(PKD2):c.595G>A (p.Gly199Ser)SNV Uncertain significance 838483 4:88929480-88929480 4:88008328-88008328
50 PKD2 NM_000297.4(PKD2):c.1273G>C (p.Asp425His)SNV Uncertain significance 860985 4:88964563-88964563 4:88043411-88043411

Expression for Autosomal Dominant Polycystic Kidney Disease

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

Pathways for Autosomal Dominant Polycystic Kidney Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 TSC2 MTOR AVPR2 AVP
2 10.44 AVPR2 AVP AQP2

GO Terms for Autosomal Dominant Polycystic Kidney Disease

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 10.34 TSC2 TRPV4 REN PRKD1 PKHD1 PKDREJ
2 integral component of plasma membrane GO:0005887 10 TRPV4 PKD2L1 PKD2 PKD1 CFTR AVPR2
3 endoplasmic reticulum GO:0005783 9.81 TRPV4 PKD2L1 PKD2 PKD1 MTOR GANAB
4 cilium GO:0005929 9.72 TRPV4 PKHD1 PKD2L1 PKD2 PKD1
5 Golgi apparatus GO:0005794 9.61 TSC2 PRKD1 PKD2 PKD1 MTOR GANAB
6 ciliary membrane GO:0060170 9.58 PKD2L1 PKD2 PKD1
7 clathrin-coated vesicle membrane GO:0030665 9.54 CFTR AVPR2 AVP
8 polycystin complex GO:0002133 9.26 PKD2 PKD1
9 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 29)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.02 TRPV4 PKDREJ PKD2L2 PKD2L1 PKD2 CFTR
2 positive regulation of gene expression GO:0010628 9.93 TRPV4 PKD2 MTOR HNF1B AVPR2 AVP
3 heart development GO:0007507 9.91 TSC2 PKD2 PKD1 BICC1
4 positive regulation of cytosolic calcium ion concentration GO:0007204 9.84 TRPV4 PKD2 PKD1 AVP
5 cellular calcium ion homeostasis GO:0006874 9.82 TRPV4 PKHD1 PKD2
6 calcium ion transport GO:0006816 9.81 TRPV4 PKD2L1 PKD2 PKD1
7 liver development GO:0001889 9.8 PKD2 PKD1 HNF1B
8 protein homotetramerization GO:0051289 9.74 PKD2L1 PKD2 AQP2
9 renal water homeostasis GO:0003091 9.67 AVPR2 AVP AQP2
10 spinal cord development GO:0021510 9.65 PKD2 PKD1 MTOR
11 protein heterotetramerization GO:0051290 9.64 PKD2 PKD1
12 placenta blood vessel development GO:0060674 9.63 PKD2 PKD1
13 amyloid-beta metabolic process GO:0050435 9.63 REN ACE
14 calcium ion transmembrane transport GO:0070588 9.63 TRPV4 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1
15 angiotensin maturation GO:0002003 9.62 REN ACE
16 cellular response to osmotic stress GO:0071470 9.61 TRPV4 PKD2
17 anoikis GO:0043276 9.6 TSC2 MTOR
18 cytoplasmic sequestering of transcription factor GO:0042994 9.59 PKD2 PKD1
19 metanephric collecting duct development GO:0072205 9.58 PKD1 AQP2
20 inorganic cation transmembrane transport GO:0098662 9.58 PKD2L1 PKD2
21 positive regulation of systemic arterial blood pressure GO:0003084 9.58 AVPR2 AVP ACE
22 hyperosmotic salinity response GO:0042538 9.56 TRPV4 AVP
23 multicellular organismal water homeostasis GO:0050891 9.54 TRPV4 CFTR AVP
24 metanephric ascending thin limb development GO:0072218 9.52 PKD2 PKD1
25 mesonephric tubule development GO:0072164 9.5 PKD2 PKD1 HNF1B
26 cell-cell signaling by wnt GO:0198738 9.43 PKD2 PKD1
27 mesonephric duct development GO:0072177 9.43 PKD2 PKD1 HNF1B
28 kidney development GO:0001822 9.43 REN PKHD1 PKD2 PKD1 HNF1B ACE
29 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 identical protein binding GO:0042802 9.7 TRPV4 PRKD1 PKD2L1 PKD2 MTOR HNF1B
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 for Autosomal Dominant Polycystic Kidney Disease

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
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