ADPKD
MCID: ATS347
MIFTS: 60

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 53 59 15
Polycystic Kidney Disease, Autosomal Dominant 24 29 6
Adpkd 24 53 59
Polycystic Kidney Diseases 44 73
Polycystic Kidney and Hepatic Disease 1 12
Polycystic Kidney Disease, Adult Type 53
Polycystic Kidney, Autosomal Dominant 73
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:



External Ids:

Disease Ontology 12 DOID:898
ICD10 33 Q61.3
ICD9CM 35 753.12
MeSH 44 D007690
NCIt 50 C75464
SNOMED-CT 68 82525005
Orphanet 59 ORPHA730

Summaries for Autosomal Dominant Polycystic Kidney Disease

NIH Rare Diseases : 53 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 AMPK Enzyme Complex Pathway. The drugs Candesartan cilexetil and Angiotensin II 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 323)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 2 with or without polycystic liver disease 33.2 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 kidney disease 33.1 ACE AQP2 AVPR2 CFTR GANAB HNF1B
4 polycystic liver disease 32.9 ALB GANAB PKD1 PKD2 PKHD1
5 polycystic liver disease 1 with or without kidney cysts 32.7 HNF1B PKD1 PKD2 PKHD1 TSC2
6 polycystic kidney disease, infantile severe, with tuberous sclerosis 32.6 PKD1 TSC2
7 polycystic kidney disease 3 with or without polycystic liver disease 32.2 GANAB PKD1 PKD2 PRKD1
8 caroli disease 32.1 PKD1 PKHD1
9 kidney disease 32.0 ACE AGT ALB AQP2 FGF23 GANAB
10 potter's syndrome 31.8 AGT BICC1 REN
11 liver disease 31.1 ALB GANAB PKD1 PKD2 PKHD1
12 chronic kidney failure 31.1 ACE AGT ALB FGF23 NOS3 PKD1
13 congenital hepatic fibrosis 31.1 PKD1 PKHD1 REN
14 cystic kidney disease 31.1 ALB CFTR HNF1B PKD1 PKD2 PKD2L1
15 end stage renal failure 31.0 ACE AGT ALB PKD1
16 tuberous sclerosis 31.0 MTOR PKD1 TSC2
17 iga glomerulonephritis 30.9 ACE ALB REN
18 diabetes mellitus 30.7 ACE AGT ALB HNF1B MTOR NOS3
19 portal hypertension 30.7 ALB NOS3 PKHD1
20 diastolic heart failure 30.6 ACE AGT NOS3
21 multicystic dysplastic kidney 30.6 PKD1 PKD2 REN
22 adrenal gland pheochromocytoma 30.5 MTOR NOS3
23 myocardial infarction 30.5 ACE AGT ALB NOS3 REN
24 renal hypertension 30.5 ACE ALB REN
25 pulmonary edema 30.5 ACE CFTR NOS3 REN
26 obstructive nephropathy 30.5 ACE AGT ALB REN
27 renal dysplasia, cystic 30.3 BICC1 PKD1
28 diabetes mellitus, noninsulin-dependent 30.2 ACE AGT ALB HNF1B NOS3
29 microvascular complications of diabetes 3 30.2 ACE AGT ALB
30 polycystic kidney disease 4 with or without polycystic liver disease 30.2 AQP2 AVPR2 HNF1B PKD1 PKD2 PKHD1
31 kidney angiomyolipoma 30.2 MTOR TSC2
32 malignant hypertension 30.2 ACE AGT REN
33 tuberous sclerosis 2 30.1 MTOR PKD1 TSC2
34 interstitial nephritis 30.1 ACE AGT ALB REN
35 hypokalemia 30.1 ACE AQP2 REN
36 diabetes insipidus 30.1 AQP2 AVPR2 REN
37 polycystic kidney disease 6 with or without polycystic liver disease 12.6
38 gillessen-kaesbach-nishimura syndrome 11.8
39 orofaciodigital syndrome i 11.4
40 nephronophthisis 11.4
41 orofaciodigital syndrome 11.4
42 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.2
43 polycystic kidney disease 5 11.2
44 polycystic kidney disease 4 11.2
45 nephronophthisis 14 11.0
46 dengue hemorrhagic fever 10.9
47 chronic interstitial cystitis 10.9
48 renal cell carcinoma, nonpapillary 10.6
49 nephrolithiasis 10.5
50 arachnoid cysts 10.4

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:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 ACE AGT AQP2 AVPR2 BICC1 CFTR
2 homeostasis/metabolism MP:0005376 10.33 ACE AGT ALB AQP2 AVPR2 BICC1
3 cardiovascular system MP:0005385 10.31 ACE AGT BICC1 FGF23 MTOR NOS3
4 mortality/aging MP:0010768 10.3 ACE AGT ALB AQP2 AVPR2 BICC1
5 endocrine/exocrine gland MP:0005379 10.29 ACE ALB BICC1 CFTR FGF23 HNF1B
6 hematopoietic system MP:0005397 10.26 ACE AQP2 AVPR2 CFTR FGF23 MTOR
7 behavior/neurological MP:0005386 10.25 ACE AGT AQP2 AVPR2 BICC1 CFTR
8 immune system MP:0005387 10.17 ACE AGT CFTR FGF23 HNF1B MTOR
9 liver/biliary system MP:0005370 10.14 ACE AGT ALB BICC1 CFTR HNF1B
10 digestive/alimentary MP:0005381 10.13 ALB BICC1 CFTR FGF23 NOS3 PKD1
11 renal/urinary system MP:0005367 10.03 ACE AGT ALB AQP2 AVPR2 BICC1
12 normal MP:0002873 9.96 ALB CFTR MTOR NOS3 PKD1 PKD2
13 muscle MP:0005369 9.92 AGT ALB HNF1B MTOR NOS3 PKD1
14 reproductive system MP:0005389 9.73 ACE AGT AQP2 BICC1 CFTR FGF23
15 respiratory system MP:0005388 9.17 CFTR FGF23 MTOR NOS3 PKD1 PKD2

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 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
2
Angiotensin II Approved, Investigational Phase 4,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 159351-69-6 6442177
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
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
10
Cilnidipine Investigational Phase 4,Phase 2 132203-70-4 5282138
11 Adrenergic alpha-Antagonists Phase 4
12 Calcium, Dietary Phase 4,Phase 2
13 Angiotensin II Type 1 Receptor Blockers Phase 4
14 Antihypertensive Agents Phase 4,Phase 2,Phase 3
15 Adrenergic Antagonists Phase 4
16 calcium channel blockers Phase 4,Phase 2
17 Angiotensinogen Phase 4,Phase 2
18 Angiotensin Receptor Antagonists Phase 4,Phase 2
19 Adrenergic Agents Phase 4,Not Applicable
20 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 2
21 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Vasopressins Phase 4,Phase 3,Phase 2,Not Applicable
28 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
30 Natriuretic Agents Phase 4,Phase 3,Phase 2,Not Applicable
31 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
32 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
33 Antimetabolites Phase 4,Phase 3,Phase 2
34 Anticholesteremic Agents Phase 4,Phase 3
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
36 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
37 Anti-Inflammatory Agents Phase 4,Not Applicable
38 Analgesics Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Anti-Inflammatory Agents, Non-Steroidal Phase 4
41 Antirheumatic Agents Phase 4
42
Octreotide Approved, Investigational Phase 3,Phase 2 83150-76-9 383414 6400441
43
Somatostatin Approved, Investigational Phase 3,Phase 2 51110-01-1, 38916-34-6 53481605
44
Spironolactone Approved Phase 3 52-01-7, 1952-01-7 5833
45 lanreotide Approved Phase 2, Phase 3,Phase 3 108736-35-2
46
Benzocaine Approved, Investigational Phase 2, Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
47 tannic acid Approved Phase 2, Phase 3,Not Applicable
48 Triptolide Investigational Phase 3,Not Applicable 38748-32-2
49
Lactitol Investigational Phase 3 585-86-4 3871
50 Contraceptive Agents Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 100)
# 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 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
25 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
26 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
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 A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX Recruiting NCT03366337 Phase 2 Bardoxolone methyl capsules
49 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02656017 Phase 2 Metformin
50 Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02697617 Phase 2 Pioglitazone;Placebo

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

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

41
Kidney, Liver, Heart, Endothelial, Brain, Testes, T Cells

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

19
The Kidney

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 1254)
# Title Authors Year
1
Recommendations for Diagnostic and Prognostic Evaluation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with a Focus on Imaging. ( 29382260 )
2018
2
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
3
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. ( 29423204 )
2018
4
Should kidney volume be used as an indicator of surgical occasion for patients with autosomal dominant polycystic kidney disease? ( 29979446 )
2018
5
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
6
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
7
Optimal equation for estimation of glomerular filtration rate in autosomal dominant polycystic kidney disease: influence of tolvaptan. ( 29789986 )
2018
8
Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. ( 29874928 )
2018
9
Autosomal Dominant Polycystic Kidney Disease and Hypertension Masquerading Primary Aldosteronism. ( 29861570 )
2018
10
3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease. ( 29306987 )
2018
11
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report. ( 29973168 )
2018
12
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
13
Nutritional therapy in autosomal dominant polycystic kidney disease. ( 29344814 )
2018
14
Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection. ( 29378535 )
2018
15
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
16
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
17
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
18
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials. ( 29306517 )
2018
19
Femoral Neuropathy Secondary to Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 29961749 )
2018
20
Obturator hernia in autosomal dominant polycystic kidney disease. ( 29971214 )
2018
21
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
22
Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease. ( 29420817 )
2018
23
Longitudinal Assessment of Left Ventricular Mass in Autosomal Dominant Polycystic Kidney Disease. ( 29854969 )
2018
24
Randomised controlled trial to determine the efficacy and safety of prescribed water intake to prevent kidney failure due to autosomal dominant polycystic kidney disease (PREVENT-ADPKD). ( 29358433 )
2018
25
A case of unilateral nephrectomy performed for autosomal dominant polycystic kidney disease with marked unilateral enlargement. ( 29388169 )
2018
26
Outcomes of Patients with Autosomal Dominant Polycystic Kidney Disease on Peritoneal Dialysis: A Meta-Analysis. ( 29952039 )
2018
27
A potential strategy for reducing cysts in autosomal dominant polycystic kidney disease with a CFTR corrector. ( 29875161 )
2018
28
Serum Fas Ligand, Serum Myostatin and Urine TGF-I^1 Are Elevated in Autosomal Dominant Polycystic Kidney Disease Patients with Impaired and Preserved Renal Function. ( 29794429 )
2018
29
Hepatopleural Fistula with Empyema Thoracis: A Rare Complication of Autosomal Dominant Polycystic Kidney Disease. ( 29379816 )
2018
30
Ganetespib limits ciliation and cystogenesis in autosomal-dominant polycystic kidney disease (ADPKD). ( 29401581 )
2018
31
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene. ( 29860066 )
2018
32
Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations. ( 29430193 )
2018
33
A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model. ( 29439650 )
2018
34
Arterial stiffness may predict renal and cardiovascular prognosis in autosomal-dominant polycystic kidney disease. ( 29975128 )
2018
35
A Randomized Clinical Trial of Metformin to Treat Autosomal Dominant Polycystic Kidney Disease. ( 29779024 )
2018
36
Early cardiovascular manifestations in children and adolescents with autosomal dominant polycystic kidney disease: a single center study. ( 29774463 )
2018
37
Clinical Manifestation, Management and Prognosis of Acute Myocardial Infarction in Autosomal Dominant Polycystic Kidney Disease. ( 30504716 )
2018
38
Risk of Ascending Aortic Aneurysm in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 30477801 )
2018
39
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction. ( 30333007 )
2018
40
Cyst infection in autosomal dominant polycystic kidney disease: penetration of meropenem into infected cysts. ( 30340529 )
2018
41
Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease. ( 30345064 )
2018
42
Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression. ( 30347391 )
2018
43
Metformin in autosomal dominant polycystic kidney disease: experimental hypothesis or clinical fact? ( 30348113 )
2018
44
HIF-1α drives cyst growth in advanced stages of autosomal dominant polycystic kidney disease. ( 30348299 )
2018
45
Tolvaptan in Japanese patients with later-stage autosomal dominant polycystic kidney disease. ( 30357715 )
2018
46
Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression. ( 30368514 )
2018
47
Population data improves variant interpretation in autosomal dominant polycystic kidney disease. ( 30369598 )
2018
48
Olive leaf extract counteracts cell proliferation and cyst growth in an in vitro model of autosomal dominant polycystic kidney disease. ( 30375624 )
2018
49
Autosomal dominant polycystic kidney disease and minimal trauma: medical review and case report. ( 30384834 )
2018
50
Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease: The DIPAK 1 Randomized Clinical Trial. ( 30422235 )
2018

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show top 50) (show all 190)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD2 NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs121918040 GRCh37 Chromosome 4, 88986631: 88986631
2 PKD2 NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs121918040 GRCh38 Chromosome 4, 88065479: 88065479
3 PKD2 NM_000297.3(PKD2): c.1359A> G (p.Pro453=) single nucleotide variant Benign/Likely benign rs17013754 GRCh37 Chromosome 4, 88967833: 88967833
4 PKD2 NM_000297.3(PKD2): c.1359A> G (p.Pro453=) single nucleotide variant Benign/Likely benign rs17013754 GRCh38 Chromosome 4, 88046681: 88046681
5 PKD2 NM_000297.3(PKD2): c.420G> A (p.Gly140=) single nucleotide variant Benign/Likely benign rs2728118 GRCh37 Chromosome 4, 88929305: 88929305
6 PKD2 NM_000297.3(PKD2): c.420G> A (p.Gly140=) single nucleotide variant Benign/Likely benign rs2728118 GRCh38 Chromosome 4, 88008153: 88008153
7 PKD2 NM_000297.3(PKD2): c.568G> A (p.Ala190Thr) single nucleotide variant Benign/Likely benign rs117078377 GRCh37 Chromosome 4, 88929453: 88929453
8 PKD2 NM_000297.3(PKD2): c.568G> A (p.Ala190Thr) single nucleotide variant Benign/Likely benign rs117078377 GRCh38 Chromosome 4, 88008301: 88008301
9 PKD2 NM_000297.3(PKD2): c.83G> C (p.Arg28Pro) single nucleotide variant Benign/Likely benign rs1805044 GRCh37 Chromosome 4, 88928968: 88928968
10 PKD2 NM_000297.3(PKD2): c.83G> C (p.Arg28Pro) single nucleotide variant Benign/Likely benign rs1805044 GRCh38 Chromosome 4, 88007816: 88007816
11 PKD2 NM_000297.3(PKD2): c.70C> T (p.Pro24Ser) single nucleotide variant Likely benign rs786204221 GRCh37 Chromosome 4, 88928955: 88928955
12 PKD2 NM_000297.3(PKD2): c.70C> T (p.Pro24Ser) single nucleotide variant Likely benign rs786204221 GRCh38 Chromosome 4, 88007803: 88007803
13 PKD2 NM_000297.3(PKD2): c.305_307dupAGG (p.Glu102_Val103insGlu) duplication Benign/Likely benign rs796065320 GRCh37 Chromosome 4, 88929190: 88929192
14 PKD2 NM_000297.3(PKD2): c.305_307dupAGG (p.Glu102_Val103insGlu) duplication Benign/Likely benign rs796065320 GRCh38 Chromosome 4, 88008038: 88008040
15 PKD2 NM_000297.3(PKD2): c.289_291delGAG (p.Glu102del) deletion Benign rs750077647 GRCh38 Chromosome 4, 88008022: 88008024
16 PKD2 NM_000297.3(PKD2): c.289_291delGAG (p.Glu102del) deletion Benign rs750077647 GRCh37 Chromosome 4, 88929174: 88929176
17 PKD2 NM_000297.3(PKD2): c.901A> G (p.Thr301Ala) single nucleotide variant Uncertain significance rs759567768 GRCh37 Chromosome 4, 88959460: 88959460
18 PKD2 NM_000297.3(PKD2): c.901A> G (p.Thr301Ala) single nucleotide variant Uncertain significance rs759567768 GRCh38 Chromosome 4, 88038308: 88038308
19 PKD2 NM_000297.3(PKD2): c.1445T> G (p.Phe482Cys) single nucleotide variant Benign/Likely benign rs75762896 GRCh38 Chromosome 4, 88046767: 88046767
20 PKD2 NM_000297.3(PKD2): c.1445T> G (p.Phe482Cys) single nucleotide variant Benign/Likely benign rs75762896 GRCh37 Chromosome 4, 88967919: 88967919
21 PKD2 NM_000297.3(PKD2): c.1555G> A (p.Val519Met) single nucleotide variant Uncertain significance rs148920907 GRCh37 Chromosome 4, 88973149: 88973149
22 PKD2 NM_000297.3(PKD2): c.1555G> A (p.Val519Met) single nucleotide variant Uncertain significance rs148920907 GRCh38 Chromosome 4, 88051997: 88051997
23 PKD2 NM_000297.3(PKD2): c.2398A> C (p.Met800Leu) single nucleotide variant Benign/Likely benign rs2234917 GRCh38 Chromosome 4, 88067937: 88067937
24 PKD2 NM_000297.3(PKD2): c.2398A> C (p.Met800Leu) single nucleotide variant Benign/Likely benign rs2234917 GRCh37 Chromosome 4, 88989089: 88989089
25 PKD2 NM_000297.3(PKD2): c.2420G> A (p.Arg807Gln) single nucleotide variant Benign/Likely benign rs147654263 GRCh37 Chromosome 4, 88989111: 88989111
26 PKD2 NM_000297.3(PKD2): c.2420G> A (p.Arg807Gln) single nucleotide variant Benign/Likely benign rs147654263 GRCh38 Chromosome 4, 88067959: 88067959
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

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 ciliary membrane GO:0060170 9.33 PKD1 PKD2 PKD2L1
3 Golgi apparatus GO:0005794 9.28 ALB AQP2 AVPR2 GANAB MTOR NOS3
4 polycystin complex GO:0002133 8.96 PKD1 PKD2
5 membrane GO:0016020 10.13 ACE AQP2 AVPR2 CFTR GANAB MTOR

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 positive regulation of gene expression GO:0010628 9.97 AVPR2 HNF1B MTOR NOS3 PKD2
2 heart development GO:0007507 9.9 BICC1 PKD1 PKD2 TSC2
3 liver development GO:0001889 9.8 HNF1B PKD1 PKD2
4 calcium ion transmembrane transport GO:0070588 9.8 PKD1 PKD2 PKD2L1 PKDREJ
5 positive regulation of nitric oxide biosynthetic process GO:0045429 9.71 AGT MTOR PKD2
6 nitric oxide mediated signal transduction GO:0007263 9.64 AGT NOS3
7 regulation of blood vessel size GO:0050880 9.64 AGT NOS3
8 amyloid-beta metabolic process GO:0050435 9.63 ACE REN
9 placenta blood vessel development GO:0060674 9.63 PKD1 PKD2
10 spinal cord development GO:0021510 9.63 MTOR PKD1 PKD2
11 angiotensin maturation GO:0002003 9.62 ACE REN
12 regulation of blood pressure GO:0008217 9.62 ACE AGT NOS3 REN
13 anoikis GO:0043276 9.61 MTOR TSC2
14 cytoplasmic sequestering of transcription factor GO:0042994 9.61 PKD1 PKD2
15 blood vessel remodeling GO:0001974 9.61 ACE AGT NOS3
16 positive regulation of systemic arterial blood pressure GO:0003084 9.59 ACE AVPR2
17 response to fluid shear stress GO:0034405 9.58 NOS3 PKD1
18 metanephric collecting duct development GO:0072205 9.57 AQP2 PKD1
19 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.56 PKD1 PKD2
20 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.55 ACE AGT
21 positive regulation of blood pressure GO:0045777 9.54 ACE AGT AVPR2
22 metanephric ascending thin limb development GO:0072218 9.52 PKD1 PKD2
23 renin-angiotensin regulation of aldosterone production GO:0002018 9.51 AGT REN
24 regulation of blood volume by renin-angiotensin GO:0002016 9.48 AGT REN
25 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
26 regulation of renal output by angiotensin GO:0002019 9.4 ACE AGT
27 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
28 detection of mechanical stimulus GO:0050982 9.26 PKD1 PKD2 PKD2L1 PKDREJ
29 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 protein binding GO:0005515 9.89 AGT ALB AQP2 AVPR2 CFTR FGF23
2 muscle alpha-actinin binding GO:0051371 9.16 PKD2 PKD2L1
3 calcium channel activity GO:0005262 8.92 PKD1 PKD2 PKD2L1 PKDREJ

Sources for Autosomal Dominant Polycystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....