MCID: ATS347
MIFTS: 60

Autosomal Dominant Polycystic Kidney Disease

Categories: Rare diseases, Nephrological diseases, Reproductive diseases, Genetic 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 Cyst development. penetrance of adpkd is very high: practically all older adults with a pkd1 or pkd2 pathogenic variant develop multiple bilateral cysts. because the disease is progressive, few cysts may be evident during childhood or young adulthood, especially in individuals with pkd2...

Classifications:



External Ids:

Disease Ontology 12 DOID:898
ICD10 33 Q61.3
ICD9CM 35 753.12
MeSH 44 D007690
NCIt 50 C75464
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, infantile severe, with tuberous sclerosis and polycystic kidney disease 2 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 Cilnidipine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include the kidney, kidney and liver, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 An autosomal dominant disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium.

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 197)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.6 PKD1 TSC2
2 polycystic kidney disease 2 with or without polycystic liver disease 33.4 HNF1B PKD1 PKD2 PKD2L1 PKDREJ PKHD1
3 polycystic liver disease 1 with or without kidney cysts 33.1 HNF1B PKD1 PKD2 PKHD1 TSC2
4 caroli disease 32.8 PKD1 PKHD1
5 polycystic kidney disease 32.6 GANAB PKD1 PKD2 PKD2L1 PKDREJ PKHD1
6 polycystic kidney disease 1 with or without polycystic liver disease 32.4 ACE AQP2 CFTR EGF MTOR PKD1
7 polycystic kidney disease 4 with or without polycystic liver disease 32.2 AQP2 AVPR2 EGF HNF1B PKD1 PKD2
8 polycystic liver disease 32.0 ALB GANAB PKD1 PKD2 PKDREJ PKHD1
9 congenital hepatic fibrosis 31.9 PKD1 PKHD1 REN
10 polycystic kidney disease 3 with or without polycystic liver disease 31.7 GANAB PKD1 PKD2 PKDREJ PRKD1
11 chronic kidney failure 31.7 ACE AGT ALB PKD1 PKD2 REN
12 diastolic heart failure 31.6 ACE AGT NOS3
13 iga glomerulonephritis 31.6 ACE ALB REN
14 kidney disease 31.5 ACE AGT ALB AQP2 HNF1B PKD1
15 portal hypertension 31.5 ALB NOS3 PKHD1
16 multicystic dysplastic kidney 31.5 PKD1 PKD2 REN
17 end stage renal failure 31.4 ACE AGT ALB PKD1
18 cystic kidney disease 31.4 EGF HNF1B PKD1 PKD2 PKHD1 TSC2
19 tuberous sclerosis 31.4 MTOR PKD1 TSC2
20 pulmonary edema 31.3 ACE CFTR NOS3 REN
21 hydronephrosis 31.2 ALB AQP2 EGF
22 renal dysplasia, cystic 30.9 BICC1 PKD1
23 diabetes mellitus 30.8 ACE AGT ALB HNF1B MTOR NOS3
24 myocardial infarction 30.6 ACE AGT ALB NOS3 REN
25 diabetes mellitus, noninsulin-dependent 29.9 ACE AGT ALB HNF1B NOS3
26 pediatric hypertension 11.2 ACE AGT
27 aortic coarctation 11.1 ACE AGT NOS3
28 lymphatic malformations 11.1 PKD1 PKD2
29 diabetes insipidus, nephrogenic, x-linked 11.1 AQP2 AVPR2
30 ischemic optic neuropathy 11.1 ACE AGT NOS3
31 hyporeninemic hypoaldosteronism 11.1 ACE REN
32 mitral valve disease 11.1 ACE AGT NOS3
33 renal artery disease 11.1 ACE NOS3 REN
34 renal artery obstruction 11.0 ACE REN
35 adrenal gland pheochromocytoma 11.0 MTOR NOS3
36 orthostatic proteinuria 11.0 ACE ALB REN
37 malignant hypertension 11.0 ACE AGT REN
38 microvascular complications of diabetes 5 11.0 ACE ALB NOS3
39 fibromuscular dysplasia 11.0 ACE AGT REN
40 renovascular hypertension 11.0 ACE NOS3 REN
41 renal hypertension 11.0 ACE ALB REN
42 renal tubular dysgenesis 11.0 ACE AGT REN
43 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.0
44 polycystic kidney disease 4 11.0
45 ascending cholangitis 11.0 ALB PKDREJ PRKD1
46 adult hepatocellular carcinoma 11.0 EGF TSC2
47 hepatic vascular disease 11.0 ALB NOS3 REN
48 tuberous sclerosis 2 11.0 MTOR PKD1 TSC2
49 benign essential hypertension 11.0 ALB REN
50 syndrome of inappropriate antidiuretic hormone 11.0 ACE ALB AQP2 AVPR2

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 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 BICC1 AGT CFTR AQP2 ACE AVPR2
2 homeostasis/metabolism MP:0005376 10.28 AGT BICC1 ALB CFTR AQP2 ACE
3 endocrine/exocrine gland MP:0005379 10.27 BICC1 ALB CFTR ACE HNF1B PKD1
4 cardiovascular system MP:0005385 10.26 AGT BICC1 ACE PKD1 MTOR NOS3
5 mortality/aging MP:0010768 10.22 BICC1 AGT CFTR ALB AQP2 ACE
6 hematopoietic system MP:0005397 10.2 CFTR AQP2 ACE AVPR2 PKD1 MTOR
7 immune system MP:0005387 10.14 AGT ACE HNF1B PKD1 MTOR CFTR
8 digestive/alimentary MP:0005381 10.11 BICC1 ALB CFTR PKD1 EGF NOS3
9 liver/biliary system MP:0005370 10.11 BICC1 AGT CFTR ALB ACE PKD1
10 muscle MP:0005369 9.86 AGT ALB HNF1B PKD1 MTOR NOS3
11 normal MP:0002873 9.85 ALB CFTR PKD1 MTOR NOS3 EGF
12 renal/urinary system MP:0005367 9.8 BICC1 AGT ALB AQP2 ACE AVPR2
13 reproductive system MP:0005389 9.4 BICC1 AGT CFTR AQP2 ACE PKD1

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 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilnidipine Approved, Investigational Phase 4,Phase 2 132203-70-4 5282138
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
3
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 159351-69-6 6442177
4
Angiotensin II Approved, Investigational Phase 4,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
5
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
6
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53123-88-9 5284616 6436030 46835353
7
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
8
Curcumin Approved, Investigational Phase 4 458-37-7 969516
9
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
10 calcium channel blockers Phase 4,Phase 2
11 Adrenergic Agents Phase 4,Not Applicable
12 Adrenergic alpha-Antagonists Phase 4
13 Adrenergic Antagonists Phase 4
14 Angiotensin II Type 1 Receptor Blockers Phase 4
15 Angiotensin Receptor Antagonists Phase 4,Phase 2
16 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 2
17 Angiotensinogen Phase 4,Phase 2
18 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Antihypertensive Agents Phase 4,Phase 2,Phase 3
21 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Calcium, Dietary Phase 4,Phase 2
25 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
27 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
28 Anticholesteremic Agents Phase 4,Phase 3
29 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
30 Antimetabolites Phase 4,Phase 3,Phase 2
31 Analgesics Phase 4
32 Analgesics, Non-Narcotic Phase 4
33 Anti-Inflammatory Agents Phase 4,Not Applicable
34 Anti-Inflammatory Agents, Non-Steroidal Phase 4
35 Antirheumatic Agents Phase 4
36
Tolvaptan Approved Phase 3,Phase 2,Not Applicable 150683-30-0 216237
37
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
38 lanreotide Approved Phase 2, Phase 3,Phase 3 108736-35-2
39
Somatostatin Approved, Investigational Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
40
Benzocaine Approved, Investigational Phase 2, Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
41 tannic acid Approved, Nutraceutical Phase 2, Phase 3,Not Applicable
42 Triptolide Investigational Phase 3,Not Applicable 38748-32-2
43
Lactitol Investigational Phase 3 585-86-4 3871
44 Alkylating Agents Phase 3,Not Applicable
45 Contraceptive Agents Phase 3,Not Applicable
46 Contraceptive Agents, Male Phase 3,Not Applicable
47 Liver Extracts Phase 3,Phase 2,Not Applicable
48 Calcineurin Inhibitors Phase 3,Not Applicable
49 Antineoplastic Agents, Alkylating Phase 3,Not Applicable
50 Gastrointestinal Agents Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 96)
# 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 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
4 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4 Curcumin
5 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
6 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Unknown status NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
7 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
8 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
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 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
15 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
16 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
17 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
18 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
19 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
20 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
21 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
22 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
23 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02251275 Phase 3 Tolvaptan (OPC-41061)
24 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
25 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
26 Study of Efficacy, Safety, Tolerability and Pharmacokinetics of GZ/SAR402671 in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Not yet recruiting NCT03523728 Phase 3 Venglustat GZ/SAR402671;Placebo
27 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
28 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
29 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
30 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
31 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
32 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
33 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
34 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
35 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
36 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
37 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
38 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
39 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
40 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
41 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
42 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02656017 Phase 2 Metformin
43 Study of the Efficacy and Safety of Tesevatinib in Subjects With ADPKD Recruiting NCT03203642 Phase 2 Tesevatinib;Placebo
44 Feasibility Study of Metformin Therapy in ADPKD Recruiting NCT02903511 Phase 2 Metformin;Placebo
45 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
46 Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02697617 Phase 2 Pioglitazone;Placebo
47 A Safety, Pharmacokinetic and Dose-Escalation Study of KD019 (Tesevatinib) in Subjects With ADPKD Active, not recruiting NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)
48 Pasireotide LAR in Severe Polycystic Liver Disease Active, not recruiting NCT01670110 Phase 2 Pasireotide LAR;Placebo
49 The ELiSA Study - Evaluation of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Not yet recruiting NCT03487913 Phase 2 Lixivaptan
50 Tolvaptan-Octreotide LAR Combination in ADPKD Not yet recruiting NCT03541447 Phase 2 Tolvaptan;Octreotide LAR

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
The Kidney

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

41
Kidney, Liver, Heart, Endothelial, Brain, Testes, Neutrophil

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 722)
# 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
Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease. ( 28792715 )
2017
38
T1 vs. T2 weighted magnetic resonance imaging to assess total kidney volume in patients with autosomal dominant polycystic kidney disease. ( 28871393 )
2017
39
Image texture features predict renal function decline in patients with autosomal dominant polycystic kidney disease. ( 28532709 )
2017
40
[Analysis of PKD1 gene mutation in a family affected with autosomal dominant polycystic kidney disease]. ( 28604956 )
2017
41
Acute aortic syndrome in autosomal dominant polycystic kidney disease. ( 28087011 )
2017
42
Role of Urinary Neutrophil Gelatinase-Associated Lipocalin for Predicting the Severity of Renal Functions in Patients With Autosomal-Dominant Polycystic Kidney Disease. ( 28583565 )
2017
43
STAT5 drives abnormal proliferation in autosomal dominant polycystic kidney disease. ( 28104302 )
2017
44
Insights into cellular and molecular basis for urinary tract infection in autosomal dominant polycystic kidney disease. ( 28794066 )
2017
45
Natural history of intracranial aneurysms in autosomal dominant polycystic kidney disease. ( 28843770 )
2017
46
Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. ( 28838955 )
2017
47
Relationship between intracranial aneurysms and the severity of autosomal dominant polycystic kidney disease. ( 28884237 )
2017
48
Genetics and Autosomal Dominant Polycystic Kidney Disease Progression. ( 28535524 )
2017
49
A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease. ( 28784653 )
2017
50
Autosomal Dominant Polycystic Kidney Disease Transplant Recipients After Kidney Transplantation: A Single-center Experience. ( 28838432 )
2017

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6
(show top 50) (show all 166)
# 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.70C> T (p.Pro24Ser) single nucleotide variant Likely benign rs786204221 GRCh37 Chromosome 4, 88928955: 88928955
4 PKD2 NM_000297.3(PKD2): c.70C> T (p.Pro24Ser) single nucleotide variant Likely benign rs786204221 GRCh38 Chromosome 4, 88007803: 88007803
5 PKD2 NM_000297.3(PKD2): c.305_307dupAGG (p.Glu102_Val103insGlu) duplication Benign/Likely benign rs796065320 GRCh37 Chromosome 4, 88929190: 88929192
6 PKD2 NM_000297.3(PKD2): c.305_307dupAGG (p.Glu102_Val103insGlu) duplication Benign/Likely benign rs796065320 GRCh38 Chromosome 4, 88008038: 88008040
7 PKD2 NM_000297.3(PKD2): c.289_291delGAG (p.Glu102del) deletion Benign rs750077647 GRCh38 Chromosome 4, 88008022: 88008024
8 PKD2 NM_000297.3(PKD2): c.289_291delGAG (p.Glu102del) deletion Benign rs750077647 GRCh37 Chromosome 4, 88929174: 88929176
9 PKD2 NM_000297.3(PKD2): c.901A> G (p.Thr301Ala) single nucleotide variant Uncertain significance rs759567768 GRCh37 Chromosome 4, 88959460: 88959460
10 PKD2 NM_000297.3(PKD2): c.901A> G (p.Thr301Ala) single nucleotide variant Uncertain significance rs759567768 GRCh38 Chromosome 4, 88038308: 88038308
11 PKD2 NM_000297.3(PKD2): c.1445T> G (p.Phe482Cys) single nucleotide variant Benign rs75762896 GRCh38 Chromosome 4, 88046767: 88046767
12 PKD2 NM_000297.3(PKD2): c.1445T> G (p.Phe482Cys) single nucleotide variant Benign rs75762896 GRCh37 Chromosome 4, 88967919: 88967919
13 PKD2 NM_000297.3(PKD2): c.1555G> A (p.Val519Met) single nucleotide variant Uncertain significance rs148920907 GRCh37 Chromosome 4, 88973149: 88973149
14 PKD2 NM_000297.3(PKD2): c.1555G> A (p.Val519Met) single nucleotide variant Uncertain significance rs148920907 GRCh38 Chromosome 4, 88051997: 88051997
15 PKD2 NM_000297.3(PKD2): c.2398A> C (p.Met800Leu) single nucleotide variant Benign/Likely benign rs2234917 GRCh38 Chromosome 4, 88067937: 88067937
16 PKD2 NM_000297.3(PKD2): c.2398A> C (p.Met800Leu) single nucleotide variant Benign/Likely benign rs2234917 GRCh37 Chromosome 4, 88989089: 88989089
17 PKD2 NM_000297.3(PKD2): c.2420G> A (p.Arg807Gln) single nucleotide variant Benign/Likely benign rs147654263 GRCh37 Chromosome 4, 88989111: 88989111
18 PKD2 NM_000297.3(PKD2): c.2420G> A (p.Arg807Gln) single nucleotide variant Benign/Likely benign rs147654263 GRCh38 Chromosome 4, 88067959: 88067959
19 PKD2 NM_000297.3(PKD2): c.1546G> T (p.Val516Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143581690 GRCh38 Chromosome 4, 88046868: 88046868
20 PKD2 NM_000297.3(PKD2): c.1546G> T (p.Val516Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143581690 GRCh37 Chromosome 4, 88968020: 88968020
21 PKD2 NM_000297.3(PKD2): c.444C> T (p.Gly148=) single nucleotide variant Benign/Likely benign rs181704860 GRCh37 Chromosome 4, 88929329: 88929329
22 PKD2 NM_000297.3(PKD2): c.444C> T (p.Gly148=) single nucleotide variant Benign/Likely benign rs181704860 GRCh38 Chromosome 4, 88008177: 88008177
23 PKD2 NM_000297.3(PKD2): c.570G> T (p.Ala190=) single nucleotide variant Benign rs541702320 GRCh37 Chromosome 4, 88929455: 88929455
24 PKD2 NM_000297.3(PKD2): c.570G> T (p.Ala190=) single nucleotide variant Benign rs541702320 GRCh38 Chromosome 4, 88008303: 88008303
25 PKD2 NM_000297.3(PKD2): c.1548+9G> C single nucleotide variant Likely benign rs376901684 GRCh38 Chromosome 4, 88046879: 88046879
26 PKD2 NM_000297.3(PKD2): c.1548+9G> C single nucleotide variant Likely benign rs376901684 GRCh37 Chromosome 4, 88968031: 88968031
27 PKD2 NM_000297.3(PKD2): c.1830G> A (p.Ala610=) single nucleotide variant Benign/Likely benign rs144968710 GRCh37 Chromosome 4, 88977351: 88977351
28 PKD2 NM_000297.3(PKD2): c.1830G> A (p.Ala610=) single nucleotide variant Benign/Likely benign rs144968710 GRCh38 Chromosome 4, 88056199: 88056199
29 PKD2 NM_000297.3(PKD2): c.2411G> A (p.Ser804Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145343957 GRCh37 Chromosome 4, 88989102: 88989102
30 PKD2 NM_000297.3(PKD2): c.2411G> A (p.Ser804Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145343957 GRCh38 Chromosome 4, 88067950: 88067950
31 PKD2 NM_000297.3(PKD2): c.-82G> C single nucleotide variant Likely benign rs529779778 GRCh38 Chromosome 4, 88007652: 88007652
32 PKD2 NM_000297.3(PKD2): c.-82G> C single nucleotide variant Likely benign rs529779778 GRCh37 Chromosome 4, 88928804: 88928804
33 PKD2 NM_000297.3(PKD2): c.-64C> T single nucleotide variant Uncertain significance rs886059693 GRCh38 Chromosome 4, 88007670: 88007670
34 PKD2 NM_000297.3(PKD2): c.-64C> T single nucleotide variant Uncertain significance rs886059693 GRCh37 Chromosome 4, 88928822: 88928822
35 PKD2 NM_000297.3(PKD2): c.-26C> T single nucleotide variant Likely benign rs530444554 GRCh38 Chromosome 4, 88007708: 88007708
36 PKD2 NM_000297.3(PKD2): c.-26C> T single nucleotide variant Likely benign rs530444554 GRCh37 Chromosome 4, 88928860: 88928860
37 PKD2 NM_000297.3(PKD2): c.103G> A (p.Ala35Thr) single nucleotide variant Uncertain significance rs759263638 GRCh38 Chromosome 4, 88007836: 88007836
38 PKD2 NM_000297.3(PKD2): c.103G> A (p.Ala35Thr) single nucleotide variant Uncertain significance rs759263638 GRCh37 Chromosome 4, 88928988: 88928988
39 PKD2 NM_000297.3(PKD2): c.154C> A (p.Leu52Met) single nucleotide variant Uncertain significance rs886059694 GRCh38 Chromosome 4, 88007887: 88007887
40 PKD2 NM_000297.3(PKD2): c.154C> A (p.Leu52Met) single nucleotide variant Uncertain significance rs886059694 GRCh37 Chromosome 4, 88929039: 88929039
41 PKD2 NM_000297.3(PKD2): c.402G> A (p.Val134=) single nucleotide variant Uncertain significance rs886059696 GRCh38 Chromosome 4, 88008135: 88008135
42 PKD2 NM_000297.3(PKD2): c.402G> A (p.Val134=) single nucleotide variant Uncertain significance rs886059696 GRCh37 Chromosome 4, 88929287: 88929287
43 PKD2 NM_000297.3(PKD2): c.1148T> C (p.Ile383Thr) single nucleotide variant Uncertain significance rs144431856 GRCh38 Chromosome 4, 88043286: 88043286
44 PKD2 NM_000297.3(PKD2): c.1148T> C (p.Ile383Thr) single nucleotide variant Uncertain significance rs144431856 GRCh37 Chromosome 4, 88964438: 88964438
45 PKD2 NM_000297.3(PKD2): c.1836T> C (p.Ala612=) single nucleotide variant Uncertain significance rs145952917 GRCh38 Chromosome 4, 88056205: 88056205
46 PKD2 NM_000297.3(PKD2): c.1836T> C (p.Ala612=) single nucleotide variant Uncertain significance rs145952917 GRCh37 Chromosome 4, 88977357: 88977357
47 PKD2 NM_000297.3(PKD2): c.2388A> G (p.Leu796=) single nucleotide variant Uncertain significance rs535577967 GRCh37 Chromosome 4, 88989079: 88989079
48 PKD2 NM_000297.3(PKD2): c.2388A> G (p.Leu796=) single nucleotide variant Uncertain significance rs535577967 GRCh38 Chromosome 4, 88067927: 88067927
49 PKD2 NM_000297.3(PKD2): c.*184dupT duplication Uncertain significance rs886059703 GRCh38 Chromosome 4, 88075878: 88075878
50 PKD2 NM_000297.3(PKD2): c.*184dupT duplication Uncertain significance rs886059703 GRCh37 Chromosome 4, 88997030: 88997030

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 9.95 ALB AVPR2 CFTR GANAB MTOR PKD2
2 ciliary membrane GO:0060170 9.43 PKD1 PKD2 PKD2L1
3 clathrin-coated vesicle membrane GO:0030665 9.33 AVPR2 CFTR EGF
4 Golgi apparatus GO:0005794 9.28 ALB AQP2 AVPR2 GANAB MTOR NOS3
5 polycystin complex GO:0002133 8.96 PKD1 PKD2
6 membrane GO:0016020 10.22 ACE AQP2 AVPR2 CFTR EGF GANAB
7 extracellular exosome GO:0070062 10.07 ACE AGT ALB AQP2 CFTR EGF

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 AVPR2 EGF HNF1B MTOR PKD2
2 heart development GO:0007507 9.92 BICC1 PKD1 PKD2 TSC2
3 cell cycle arrest GO:0007050 9.84 MTOR PKD1 PKD2 TSC2
4 positive regulation of neuron projection development GO:0010976 9.83 AGT MTOR PRKD1
5 calcium ion transmembrane transport GO:0070588 9.83 PKD1 PKD2 PKD2L1 PKDREJ
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 AGT EGF MTOR
7 liver development GO:0001889 9.81 HNF1B PKD1 PKD2
8 positive regulation of nitric oxide biosynthetic process GO:0045429 9.74 AGT MTOR PKD2
9 positive regulation of protein tyrosine kinase activity GO:0061098 9.69 ACE AGT EGF
10 regulation of blood pressure GO:0008217 9.67 ACE AGT NOS3 REN
11 amyloid-beta metabolic process GO:0050435 9.65 ACE REN
12 spinal cord development GO:0021510 9.65 MTOR PKD1 PKD2
13 placenta blood vessel development GO:0060674 9.64 PKD1 PKD2
14 cytoplasmic sequestering of transcription factor GO:0042994 9.63 PKD1 PKD2
15 blood vessel remodeling GO:0001974 9.63 ACE AGT NOS3
16 anoikis GO:0043276 9.62 MTOR TSC2
17 response to fluid shear stress GO:0034405 9.61 NOS3 PKD1
18 regulation of calcium ion import GO:0090279 9.61 EGF PKD2
19 branching morphogenesis of an epithelial tube GO:0048754 9.61 EGF HNF1B PKD1
20 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.6 PKD1 PKD2
21 metanephric collecting duct development GO:0072205 9.59 AQP2 PKD1
22 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.58 ACE AGT
23 metanephric ascending thin limb development GO:0072218 9.56 PKD1 PKD2
24 renin-angiotensin regulation of aldosterone production GO:0002018 9.55 AGT REN
25 angiotensin maturation GO:0002003 9.5 ACE AGT REN
26 regulation of blood volume by renin-angiotensin GO:0002016 9.49 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 protein binding GO:0005515 9.91 AGT ALB AQP2 AVPR2 BICC1 CFTR
2 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
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36 IUPHAR
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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