ADPKD
MCID: ATS347
MIFTS: 61

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 54 60 15 17
Polycystic Kidney Disease, Autosomal Dominant 25 30 6
Adpkd 25 54 60
Polycystic Kidney Diseases 45 74
Polycystic Kidney and Hepatic Disease 1 12
Polycystic Kidney Disease, Adult Type 54
Polycystic Kidney, Autosomal Dominant 74
Congenital Biliary Ectasias 12

Characteristics:

GeneReviews:

25
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:



External Ids:

Disease Ontology 12 DOID:898
ICD9CM 36 753.12
MeSH 45 D007690
NCIt 51 C75464
SNOMED-CT 69 82525005
ICD10 34 Q61.3
Orphanet 60 ORPHA730

Summaries for Autosomal Dominant Polycystic Kidney Disease

NIH Rare Diseases : 54 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 2 with or without polycystic liver disease 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 Angiotensin II and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are growth/size/body region and homeostasis/metabolism

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 350)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 2 with or without polycystic liver disease 33.3 GANAB HNF1B PKD1 PKD2 PKD2L1 PKDREJ
2 polycystic kidney disease 1 with or without polycystic liver disease 33.1 AQP2 CFTR HNF1B MTOR PKD1 PKD2
3 polycystic liver disease 33.1 ALB GANAB PKD1 PKD2 PKHD1
4 polycystic kidney disease 3 with or without polycystic liver disease 33.0 GANAB PKD1 PKD2 PRKD1
5 polycystic kidney disease, infantile severe, with tuberous sclerosis 32.9 PKD1 TSC2
6 polycystic liver disease 1 with or without kidney cysts 32.9 HNF1B PKD1 PKD2 PKHD1 TSC2
7 polycystic kidney disease 32.5 ACE AQP2 AVPR2 CFTR GANAB HNF1B
8 caroli disease 32.3 PKD1 PKHD1
9 kidney disease 32.0 ACE AGT ALB AQP2 FGF23 GANAB
10 potter's syndrome 32.0 AGT BICC1 REN
11 end stage renal failure 31.5 ACE AGT ALB PKD1
12 chronic kidney failure 31.4 ACE AGT ALB FGF23 PKD1 PKD2
13 congenital hepatic fibrosis 31.4 PKD1 PKHD1 REN
14 liver disease 31.3 ALB GANAB PKD1 PKD2 PKHD1
15 tuberous sclerosis 31.3 MTOR PKD1 TSC2
16 iga glomerulonephritis 31.1 ACE ALB REN
17 cystic kidney disease 31.1 ALB CFTR HNF1B PKD1 PKD2 PKD2L1
18 diabetes mellitus 31.0 ACE AGT ALB HNF1B MTOR REN
19 multicystic dysplastic kidney 30.8 PKD1 PKD2 REN
20 renal hypertension 30.8 ACE ALB REN
21 pulmonary edema 30.7 ACE CFTR REN
22 obstructive nephropathy 30.7 ACE AGT ALB REN
23 microvascular complications of diabetes 3 30.5 ACE AGT ALB
24 renal dysplasia, cystic 30.5 BICC1 PKD1
25 tuberous sclerosis 2 30.4 MTOR PKD1 TSC2
26 interstitial nephritis 30.4 ACE AGT ALB REN
27 kidney angiomyolipoma 30.4 MTOR TSC2
28 hypokalemia 30.3 ACE AQP2 REN
29 polycystic kidney disease 4 with or without polycystic liver disease 30.3 AQP2 AVPR2 HNF1B PKD1 PKD2 PKHD1
30 diabetes insipidus 30.3 AQP2 AVP AVPR2 REN
31 hypertension, essential 30.2 ACE AGT ALB PKD1 PKD2 REN
32 polycystic kidney disease 6 with or without polycystic liver disease 12.6
33 gillessen-kaesbach-nishimura syndrome 11.9
34 orofaciodigital syndrome i 11.5
35 nephronophthisis 11.4
36 orofaciodigital syndrome 11.4
37 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.2
38 polycystic kidney disease 5 11.2
39 polycystic kidney disease 4 11.2
40 nephronophthisis 14 11.1
41 dengue hemorrhagic fever 11.0
42 chronic interstitial cystitis 11.0
43 renal cell carcinoma, nonpapillary 10.7
44 loeffler syndrome 10.6 ACE ALB
45 pediatric hypertension 10.6 ACE AGT
46 nephrolithiasis 10.5
47 hypoaldosteronism 10.5 ACE REN
48 lymphatic malformations 10.5 PKD1 PKD2
49 glomerulonephritis 10.5
50 pyelonephritis 10.5

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

MGI Mouse Phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

47 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 ACE AGT AQP2 AVPR2 BICC1 CFTR
2 homeostasis/metabolism MP:0005376 10.31 ACE AGT ALB AQP2 AVP AVPR2
3 cardiovascular system MP:0005385 10.26 ACE AGT BICC1 FGF23 MTOR PKD1
4 mortality/aging MP:0010768 10.25 ACE AGT ALB AQP2 AVP AVPR2
5 behavior/neurological MP:0005386 10.24 ACE AGT AQP2 AVP AVPR2 BICC1
6 endocrine/exocrine gland MP:0005379 10.24 ACE ALB BICC1 CFTR FGF23 HNF1B
7 hematopoietic system MP:0005397 10.2 ACE AQP2 AVPR2 CFTR FGF23 MTOR
8 immune system MP:0005387 10.1 ACE AGT CFTR FGF23 HNF1B MTOR
9 liver/biliary system MP:0005370 10.07 ACE AGT ALB BICC1 CFTR HNF1B
10 digestive/alimentary MP:0005381 10.05 ALB BICC1 CFTR FGF23 PKD1 PKD2
11 normal MP:0002873 9.85 ALB AVP CFTR MTOR PKD1 PKD2
12 renal/urinary system MP:0005367 9.83 ACE AGT ALB AQP2 AVP AVPR2
13 muscle MP:0005369 9.8 AGT ALB HNF1B MTOR PKD1 PRKD1
14 reproductive system MP:0005389 9.36 ACE AGT AQP2 BICC1 CFTR FGF23

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 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
2
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 159351-69-6 6442177 70789204
4
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 53123-88-9 46835353 6436030 5284616
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 22916-47-8 4189
6
Tolvaptan Approved Phase 4,Phase 3,Phase 2,Not Applicable 150683-30-0 216237
7
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
8
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
9
Calcium Approved, Nutraceutical Phase 4,Phase 2 7440-70-2 271
10
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
11
Cilnidipine Investigational Phase 4,Phase 2 132203-70-4 5282138
12 Adrenergic Antagonists Phase 4
13 Angiotensin Receptor Antagonists Phase 4,Phase 2
14 Angiotensin II Type 1 Receptor Blockers Phase 4
15 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
16 Angiotensinogen Phase 4,Phase 2
17 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 2
18 calcium channel blockers Phase 4,Phase 2
19 Adrenergic alpha-Antagonists Phase 4
20 Calcium, Dietary Phase 4,Phase 2
21 Adrenergic Agents Phase 4,Not Applicable
22 Antihypertensive Agents Phase 4,Phase 2,Phase 3
23 Giapreza Phase 4,Phase 2
24 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Not Applicable
31 Natriuretic Agents Phase 4,Phase 3,Phase 2,Not Applicable
32 Vasopressins Phase 4,Phase 3,Phase 2,Not Applicable
33 Anticholesteremic Agents Phase 4,Phase 3
34 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
35 Antimetabolites Phase 4,Phase 3,Phase 2
36 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
38 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
39 Anti-Inflammatory Agents Phase 4,Not Applicable
40 Anti-Inflammatory Agents, Non-Steroidal Phase 4
41 Analgesics Phase 4
42 Analgesics, Non-Narcotic Phase 4
43 Antirheumatic Agents Phase 4
44
Somatostatin Approved, Investigational Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
45
Octreotide Approved, Investigational Phase 3,Phase 2 83150-76-9 6400441 383414
46
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
47
Spironolactone Approved Phase 3 52-01-7, 1952-01-7 5833
48
lanreotide Approved Phase 2, Phase 3,Phase 3 108736-35-2
49
Metformin Approved Phase 3,Phase 2 657-24-9 14219 4091
50
Benzocaine Approved, Investigational Phase 2, Phase 3,Not Applicable 94-09-7, 1994-09-7 2337

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
2 Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00414440 Phase 4 Placebo;Everolimus
3 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
4 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
5 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4 Curcumin
6 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
7 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
8 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan (OPC-41061)
9 Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease Completed NCT02160145 Phase 3 Tolvaptan (OPC-41061);Placebo
10 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
11 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Completed NCT01377246 Phase 3 Octreotide-LAR
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 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 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
15 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
16 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
17 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
18 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
19 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
20 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
21 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
22 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
23 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
24 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
25 A Medical Research Study Designed to Determine if Venglustat Can be a Future Treatment for ADPKD Patients Recruiting NCT03523728 Phase 2, Phase 3 Venglustat GZ402671;Placebo
26 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
27 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
28 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
29 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
30 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
31 Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD): The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
32 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
33 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
34 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
35 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
36 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
37 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
38 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
39 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
40 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
41 Dose-finding Study of New Tolvaptan Formulation in Subjects With ADPKD Completed NCT01210560 Phase 2 Tolvaptan MR;Tolvaptan MR;Tolvaptan MR;Tolvaptan IR;Tolvaptan MR
42 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
43 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
44 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
45 The ELiSA Study - Evaluation of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03487913 Phase 2 Lixivaptan
46 Study of the Efficacy and Safety of Tesevatinib in Subjects With ADPKD Recruiting NCT03203642 Phase 2 Tesevatinib;Placebo
47 Feasibility Study of Metformin Therapy in ADPKD Recruiting NCT02903511 Phase 2 Metformin;Placebo
48 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02656017 Phase 2 Metformin
49 Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02697617 Phase 2 Pioglitazone;Placebo
50 A Safety, Pharmacokinetic and Dose-Escalation Study of KD019 (Tesevatinib) in Subjects With ADPKD Active, not recruiting NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)

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 30

Anatomical Context for Autosomal Dominant Polycystic Kidney Disease

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

42
Kidney, Liver, Heart, Endothelial, Brain, Testes, T Cells

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

20
The Kidney

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 1831)
# Title Authors Year
1
Factors Influencing Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30513520 )
2019
2
Population Pharmacokinetic Analyses and Model Validation of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease. ( 30618157 )
2019
3
Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. ( 30631912 )
2019
4
Urinary T cells correlate with rate of renal function loss in autosomal dominant polycystic kidney disease. ( 30632307 )
2019
5
Pharmacokinetic Evaluation of Nimotuzumab in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 30633365 )
2019
6
MRI in autosomal dominant polycystic kidney disease. ( 30637853 )
2019
7
Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes. ( 30639418 )
2019
8
Autosomal dominant polycystic kidney disease: Disrupted pathways and potential therapeutic interventions. ( 30644092 )
2019
9
A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report. ( 30651829 )
2019
10
Nonselective Cyclooxygenase Inhibition Retards Cyst Progression in a Murine Model of Autosomal Dominant Polycystic Kidney Disease. ( 30662341 )
2019
11
A rapid high-performance semi-automated tool to measure total kidney volume from MRI in autosomal dominant polycystic kidney disease. ( 30666443 )
2019
12
Cyclooxygenase 2 inhibition slows disease progression and improves the altered renal lipid mediator profile in the Pkd2WS25/- mouse model of autosomal dominant polycystic kidney disease. ( 30671914 )
2019
13
Safe Nanocomposite-Mediated Efficient Delivery of MicroRNA Plasmids for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Therapy. ( 30672150 )
2019
14
Different Effects of Iron Indices on Mortality in Patients With Autosomal Dominant Polycystic Kidney Disease After Long-Term Hemodialysis: A Nationwide Population-Based Study. ( 30683605 )
2019
15
Tolvaptan: A Review in Autosomal Dominant Polycystic Kidney Disease. ( 30689194 )
2019
16
Standardizing total kidney volume measurements for clinical trials of autosomal dominant polycystic kidney disease. ( 30746130 )
2019
17
Recent advances in the clinical management of autosomal dominant polycystic kidney disease. ( 30755792 )
2019
18
Aquaporin-3 deficiency slows cyst enlargement in experimental mouse models of autosomal dominant polycystic kidney disease. ( 30768374 )
2019
19
MR Angiography Screening and Surveillance for Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Cost-effectiveness Analysis. ( 30777807 )
2019
20
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease. ( 30792735 )
2019
21
Mineralocorticoid Antagonism and Vascular Function in Early Autosomal Dominant Polycystic Kidney Disease: A Randomized Controlled Trial. ( 30803706 )
2019
22
Clinical study on autosomal dominant polycystic kidney disease among North Tunisians. ( 30804279 )
2019
23
Aortic Dissection Associated with Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 30806618 )
2019
24
A Rare Case Report of Emphysematous Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30814802 )
2019
25
Autosomal dominant polycystic kidney disease. ( 30819518 )
2019
26
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. ( 30858458 )
2019
27
Plasma copeptin levels predict disease progression and tolvaptan efficacy in autosomal dominant polycystic kidney disease. ( 30898339 )
2019
28
Age-based ultrasonographic criteria for diagnosis of autosomal dominant polycystic kidney disease in Persian cats. ( 29652208 )
2019
29
Recommendations for Diagnostic and Prognostic Evaluation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with a Focus on Imaging. ( 29382260 )
2018
30
Outcome of autosomal dominant polycystic kidney disease patients on peritoneal dialysis: a national retrospective study based on two French registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network). ( 29361078 )
2018
31
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. ( 29423204 )
2018
32
Should kidney volume be used as an indicator of surgical occasion for patients with autosomal dominant polycystic kidney disease? ( 29979446 )
2018
33
A case of congenital left ventricular diverticulum in a patient with autosomal dominant polycystic kidney disease: possible mechanistic link between polycystin and ventricular diverticulum. ( 29876750 )
2018
34
Effect of Sirolimus on Native Total Kidney Volume After Transplantation in Patients with Autosomal Dominant Polycystic Kidney Disease: A Randomized Controlled Pilot Study. ( 29880342 )
2018
35
Optimal equation for estimation of glomerular filtration rate in autosomal dominant polycystic kidney disease: influence of tolvaptan. ( 29789986 )
2018
36
Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. ( 29874928 )
2018
37
Autosomal Dominant Polycystic Kidney Disease and Hypertension Masquerading Primary Aldosteronism. ( 29861570 )
2018
38
3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease. ( 29306987 )
2018
39
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report. ( 29973168 )
2018
40
Volume Reduction in Enlarged Kidneys in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Prior to Renal Transplant with Transcatheter Arterial Embolization (TAE): A Systematic Review and Meta-Analysis. ( 29388019 )
2018
41
Nutritional therapy in autosomal dominant polycystic kidney disease. ( 29344814 )
2018
42
Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection. ( 29378535 )
2018
43
Baseline Characteristics of the Autosomal Dominant Polycystic Kidney Disease Subcohort of the KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease (KNOW-CKD). ( 29797773 )
2018
44
End-Stage Kidney Disease in Patients With Autosomal Dominant Polycystic Kidney Disease: A 12-Year Study Based on the Canadian Organ Replacement Registry. ( 29977583 )
2018
45
A case of a maintenance hemodialysis patient with autosomal dominant polycystic kidney disease who underwent living donor liver transplantation alone due to refractory liver cyst infection. ( 29956096 )
2018
46
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials. ( 29306517 )
2018
47
Femoral Neuropathy Secondary to Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 29961749 )
2018
48
Obturator hernia in autosomal dominant polycystic kidney disease. ( 29971214 )
2018
49
The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition. ( 29338003 )
2018
50
Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease. ( 29420817 )
2018

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD2 NM_000297.3(PKD2): c.70C> T (p.Pro24Ser) single nucleotide variant Likely benign rs786204221 GRCh37 Chromosome 4, 88928955: 88928955
2 PKD2 NM_000297.3(PKD2): c.70C> T (p.Pro24Ser) single nucleotide variant Likely benign rs786204221 GRCh38 Chromosome 4, 88007803: 88007803
3 PKD2 NM_000297.3(PKD2): c.305_307dupAGG (p.Glu102_Val103insGlu) duplication Benign/Likely benign rs750077647 GRCh37 Chromosome 4, 88929190: 88929192
4 PKD2 NM_000297.3(PKD2): c.305_307dupAGG (p.Glu102_Val103insGlu) duplication Benign/Likely benign rs750077647 GRCh38 Chromosome 4, 88008038: 88008040
5 PKD2 NM_000297.3(PKD2): c.289_291delGAG (p.Glu102del) deletion Benign rs750077647 GRCh38 Chromosome 4, 88008022: 88008024
6 PKD2 NM_000297.3(PKD2): c.289_291delGAG (p.Glu102del) deletion Benign rs750077647 GRCh37 Chromosome 4, 88929174: 88929176
7 PKD2 NM_000297.3(PKD2): c.901A> G (p.Thr301Ala) single nucleotide variant Uncertain significance rs759567768 GRCh37 Chromosome 4, 88959460: 88959460
8 PKD2 NM_000297.3(PKD2): c.901A> G (p.Thr301Ala) single nucleotide variant Uncertain significance rs759567768 GRCh38 Chromosome 4, 88038308: 88038308
9 PKD2 NM_000297.3(PKD2): c.1445T> G (p.Phe482Cys) single nucleotide variant Benign/Likely benign rs75762896 GRCh38 Chromosome 4, 88046767: 88046767
10 PKD2 NM_000297.3(PKD2): c.1445T> G (p.Phe482Cys) single nucleotide variant Benign/Likely benign rs75762896 GRCh37 Chromosome 4, 88967919: 88967919
11 PKD2 NM_000297.3(PKD2): c.1555G> A (p.Val519Met) single nucleotide variant Uncertain significance rs148920907 GRCh37 Chromosome 4, 88973149: 88973149
12 PKD2 NM_000297.3(PKD2): c.1555G> A (p.Val519Met) single nucleotide variant Uncertain significance rs148920907 GRCh38 Chromosome 4, 88051997: 88051997
13 PKD2 NM_000297.3(PKD2): c.2398A> C (p.Met800Leu) single nucleotide variant Benign/Likely benign rs2234917 GRCh38 Chromosome 4, 88067937: 88067937
14 PKD2 NM_000297.3(PKD2): c.2398A> C (p.Met800Leu) single nucleotide variant Benign/Likely benign rs2234917 GRCh37 Chromosome 4, 88989089: 88989089
15 PKD2 NM_000297.3(PKD2): c.2420G> A (p.Arg807Gln) single nucleotide variant Benign/Likely benign rs147654263 GRCh37 Chromosome 4, 88989111: 88989111
16 PKD2 NM_000297.3(PKD2): c.2420G> A (p.Arg807Gln) single nucleotide variant Benign/Likely benign rs147654263 GRCh38 Chromosome 4, 88067959: 88067959
17 PKD2 NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs121918040 GRCh37 Chromosome 4, 88986631: 88986631
18 PKD2 NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs121918040 GRCh38 Chromosome 4, 88065479: 88065479
19 PKD2 NM_000297.3(PKD2): c.1359A> G (p.Pro453=) single nucleotide variant Benign/Likely benign rs17013754 GRCh37 Chromosome 4, 88967833: 88967833
20 PKD2 NM_000297.3(PKD2): c.1359A> G (p.Pro453=) single nucleotide variant Benign/Likely benign rs17013754 GRCh38 Chromosome 4, 88046681: 88046681
21 PKD2 NM_000297.3(PKD2): c.420G> A (p.Gly140=) single nucleotide variant Benign/Likely benign rs2728118 GRCh37 Chromosome 4, 88929305: 88929305
22 PKD2 NM_000297.3(PKD2): c.420G> A (p.Gly140=) single nucleotide variant Benign/Likely benign rs2728118 GRCh38 Chromosome 4, 88008153: 88008153
23 PKD2 NM_000297.3(PKD2): c.568G> A (p.Ala190Thr) single nucleotide variant Benign/Likely benign rs117078377 GRCh37 Chromosome 4, 88929453: 88929453
24 PKD2 NM_000297.3(PKD2): c.568G> A (p.Ala190Thr) single nucleotide variant Benign/Likely benign rs117078377 GRCh38 Chromosome 4, 88008301: 88008301
25 PKD2 NM_000297.3(PKD2): c.83G> C (p.Arg28Pro) single nucleotide variant Benign/Likely benign rs1805044 GRCh37 Chromosome 4, 88928968: 88928968
26 PKD2 NM_000297.3(PKD2): c.83G> C (p.Arg28Pro) single nucleotide variant Benign/Likely benign rs1805044 GRCh38 Chromosome 4, 88007816: 88007816
27 PKD2 NM_000297.3(PKD2): c.1546G> T (p.Val516Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143581690 GRCh38 Chromosome 4, 88046868: 88046868
28 PKD2 NM_000297.3(PKD2): c.1546G> T (p.Val516Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143581690 GRCh37 Chromosome 4, 88968020: 88968020
29 PKD2 NM_000297.3(PKD2): c.444C> T (p.Gly148=) single nucleotide variant Benign/Likely benign rs181704860 GRCh37 Chromosome 4, 88929329: 88929329
30 PKD2 NM_000297.3(PKD2): c.444C> T (p.Gly148=) single nucleotide variant Benign/Likely benign rs181704860 GRCh38 Chromosome 4, 88008177: 88008177
31 PKD2 NM_000297.3(PKD2): c.570G> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs541702320 GRCh37 Chromosome 4, 88929455: 88929455
32 PKD2 NM_000297.3(PKD2): c.570G> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs541702320 GRCh38 Chromosome 4, 88008303: 88008303
33 PKD2 NM_000297.3(PKD2): c.1548+9G> C single nucleotide variant Benign/Likely benign rs376901684 GRCh38 Chromosome 4, 88046879: 88046879
34 PKD2 NM_000297.3(PKD2): c.1548+9G> C single nucleotide variant Benign/Likely benign rs376901684 GRCh37 Chromosome 4, 88968031: 88968031
35 PKD2 NM_000297.3(PKD2): c.1830G> A (p.Ala610=) single nucleotide variant Benign/Likely benign rs144968710 GRCh37 Chromosome 4, 88977351: 88977351
36 PKD2 NM_000297.3(PKD2): c.1830G> A (p.Ala610=) single nucleotide variant Benign/Likely benign rs144968710 GRCh38 Chromosome 4, 88056199: 88056199
37 PKD2 NM_000297.3(PKD2): c.2411G> A (p.Ser804Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145343957 GRCh37 Chromosome 4, 88989102: 88989102
38 PKD2 NM_000297.3(PKD2): c.2411G> A (p.Ser804Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145343957 GRCh38 Chromosome 4, 88067950: 88067950
39 PKD2 NM_000297.3(PKD2): c.-82G> C single nucleotide variant Likely benign rs529779778 GRCh38 Chromosome 4, 88007652: 88007652
40 PKD2 NM_000297.3(PKD2): c.-82G> C single nucleotide variant Likely benign rs529779778 GRCh37 Chromosome 4, 88928804: 88928804
41 PKD2 NM_000297.3(PKD2): c.-64C> T single nucleotide variant Uncertain significance rs886059693 GRCh38 Chromosome 4, 88007670: 88007670
42 PKD2 NM_000297.3(PKD2): c.-64C> T single nucleotide variant Uncertain significance rs886059693 GRCh37 Chromosome 4, 88928822: 88928822
43 PKD2 NM_000297.3(PKD2): c.-26C> T single nucleotide variant Likely benign rs530444554 GRCh38 Chromosome 4, 88007708: 88007708
44 PKD2 NM_000297.3(PKD2): c.-26C> T single nucleotide variant Likely benign rs530444554 GRCh37 Chromosome 4, 88928860: 88928860
45 PKD2 NM_000297.3(PKD2): c.103G> A (p.Ala35Thr) single nucleotide variant Uncertain significance rs759263638 GRCh38 Chromosome 4, 88007836: 88007836
46 PKD2 NM_000297.3(PKD2): c.103G> A (p.Ala35Thr) single nucleotide variant Uncertain significance rs759263638 GRCh37 Chromosome 4, 88928988: 88928988
47 PKD2 NM_000297.3(PKD2): c.154C> A (p.Leu52Met) single nucleotide variant Uncertain significance rs886059694 GRCh38 Chromosome 4, 88007887: 88007887
48 PKD2 NM_000297.3(PKD2): c.154C> A (p.Leu52Met) single nucleotide variant Uncertain significance rs886059694 GRCh37 Chromosome 4, 88929039: 88929039
49 PKD2 NM_000297.3(PKD2): c.402G> A (p.Val134=) single nucleotide variant Uncertain significance rs886059696 GRCh38 Chromosome 4, 88008135: 88008135
50 PKD2 NM_000297.3(PKD2): c.402G> A (p.Val134=) single nucleotide variant Uncertain significance rs886059696 GRCh37 Chromosome 4, 88929287: 88929287

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
12.05 ACE AGT FGF23 MTOR PRKD1 REN
2
Show member pathways
12.02 AVP AVPR2 MTOR TSC2
3
Show member pathways
11.34 ACE AGT REN
4 11.17 ACE AGT REN
5 10.78 AQP2 AVP AVPR2

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 endoplasmic reticulum GO:0005783 9.87 ALB AVPR2 CFTR GANAB MTOR PKD2
2 Golgi apparatus GO:0005794 9.56 ALB AQP2 AVPR2 GANAB MTOR PKD1
3 ciliary membrane GO:0060170 9.43 PKD1 PKD2 PKD2L1
4 clathrin-coated vesicle membrane GO:0030665 9.33 AVP AVPR2 CFTR
5 polycystin complex GO:0002133 8.62 PKD1 PKD2

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 AVP AVPR2 HNF1B MTOR PKD2
2 heart development GO:0007507 9.91 BICC1 PKD1 PKD2 TSC2
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.86 AGT AVP PKD1 PKD2
4 positive regulation of neuron projection development GO:0010976 9.83 AGT MTOR PRKD1
5 liver development GO:0001889 9.8 HNF1B PKD1 PKD2
6 calcium ion transmembrane transport GO:0070588 9.8 PKD1 PKD2 PKD2L1 PKDREJ
7 regulation of blood pressure GO:0008217 9.77 ACE AGT REN
8 positive regulation of nitric oxide biosynthetic process GO:0045429 9.72 AGT MTOR PKD2
9 regulation of blood vessel size GO:0050880 9.65 AGT AVP
10 vasoconstriction GO:0042310 9.64 AGT AVP
11 amyloid-beta metabolic process GO:0050435 9.64 ACE REN
12 placenta blood vessel development GO:0060674 9.63 PKD1 PKD2
13 spinal cord development GO:0021510 9.63 MTOR PKD1 PKD2
14 angiotensin maturation GO:0002003 9.62 ACE REN
15 anoikis GO:0043276 9.62 MTOR TSC2
16 cytoplasmic sequestering of transcription factor GO:0042994 9.61 PKD1 PKD2
17 renal water homeostasis GO:0003091 9.61 AQP2 AVP AVPR2
18 multicellular organismal water homeostasis GO:0050891 9.6 AVP CFTR
19 metanephric collecting duct development GO:0072205 9.58 AQP2 PKD1
20 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.57 ACE AGT
21 metanephric ascending thin limb development GO:0072218 9.54 PKD1 PKD2
22 positive regulation of blood pressure GO:0045777 9.54 ACE AGT AVPR2
23 regulation of renal sodium excretion GO:0035813 9.52 AGT AVP
24 renin-angiotensin regulation of aldosterone production GO:0002018 9.51 AGT REN
25 positive regulation of systemic arterial blood pressure GO:0003084 9.5 ACE AVP AVPR2
26 regulation of blood volume by renin-angiotensin GO:0002016 9.48 AGT REN
27 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
28 regulation of renal output by angiotensin GO:0002019 9.4 ACE AGT
29 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
30 detection of mechanical stimulus GO:0050982 9.26 PKD1 PKD2 PKD2L1 PKDREJ
31 kidney development GO:0001822 9.17 ACE AGT HNF1B PKD1 PKD2 PKHD1

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

# Name GO ID Score Top Affiliating Genes
1 muscle alpha-actinin binding GO:0051371 8.96 PKD2 PKD2L1
2 calcium channel activity GO:0005262 8.92 PKD1 PKD2 PKD2L1 PKDREJ

Sources for Autosomal Dominant Polycystic Kidney Disease

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