MCID: ATS347
MIFTS: 61

Autosomal Dominant Polycystic Kidney Disease

Categories: Rare diseases, Nephrological diseases, Genetic 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 49 55 14
Adpkd 23 49 55
Polycystic Kidney Disease, Autosomal Dominant 23 28
Polycystic Kidney Diseases 41 69
Polycystic Kidney and Hepatic Disease 1 12
Polycystic Kidney Disease, Adult Type 49
Polycystic Kidney, Autosomal Dominant 69
Congenital Biliary Ectasias 12

Characteristics:

GeneReviews:

23
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 32 Q61.3
ICD9CM 34 753.12
MeSH 41 D007690
NCIt 46 C75464
Orphanet 55 ORPHA730

Summaries for Autosomal Dominant Polycystic Kidney Disease

NIH Rare Diseases : 49 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. Last updated: 11/7/2016

MalaCards based summary : Autosomal Dominant Polycystic Kidney Disease, also known as adpkd, is related to polycystic kidney disease 1 and polycystic kidney disease 2. 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 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 1 Polycystic Kidney Disease 3
Polycystic Kidney Disease 2 Polycystic Kidney Disease 5
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 193)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 1 33.7 PKD1 PKD2 PKD2L1 PKHD1 PRKD1 TSC2
2 polycystic kidney disease 2 33.5 PKD1 PKD2 PKD2L1 PKDREJ PKHD1 PRKD1
3 polycystic kidney disease, infantile severe, with tuberous sclerosis 32.9 PKD1 TSC2
4 polycystic kidney disease 32.9 GANAB PKD1 PKD2 PKD2L1 PKDREJ PKHD1
5 polycystic liver disease 1 32.8 HNF1B PKD1 PKD2 PKHD1
6 polycystic kidney disease 4 with or without hepatic disease 32.4 AVPR2 EGF HNF1B PKD1 PKD2 PKDREJ
7 caroli disease 32.3 PKD1 PKHD1
8 kidney disease 32.2 ACE ALB PKD1 PKD2 PKD2L1 PKDREJ
9 polycystic liver disease 31.9 ALB GANAB PKD1 PKD2 PKDREJ PKHD1
10 polycystic kidney disease 3 31.5 GANAB PKD1 PKD2 PKDREJ PRKD1
11 congenital hepatic fibrosis 31.4 PKD1 PKHD1 REN
12 chronic kidney failure 31.2 ACE AGT ALB PKD1 PKD2 REN
13 portal hypertension 30.9 ALB NOS3 PKHD1
14 diastolic heart failure 30.9 ACE AGT NOS3
15 end stage renal failure 30.8 ACE AGT ALB PKD1
16 pulmonary edema 30.7 ACE CFTR NOS3 REN
17 hydronephrosis 30.7 ALB AQP2 EGF
18 tuberous sclerosis 30.7 MTOR PKD1 TSC2
19 renal cell carcinoma, nonpapillary 30.5 EGF HNF1B MTOR TSC2
20 cystic kidney disease 30.3 EGF HNF1B PKD1 PKD2 PKHD1 TSC2
21 myocardial infarction 30.3 ACE AGT ALB NOS3 REN
22 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.0
23 dengue hemorrhagic fever 10.8
24 chronic interstitial cystitis 10.8
25 pediatric hypertension 10.7 ACE AGT
26 aortic coarctation 10.7 ACE AGT NOS3
27 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.7 PKD1 PKD2
28 hyporeninemic hypoaldosteronism 10.7 ACE REN
29 microvascular complications of diabetes 3 10.7 ACE AGT ALB
30 polycystic kidney disease 5 10.7 PKD1 PKD2 PKHD1
31 ischemic optic neuropathy 10.7 ACE AGT NOS3
32 diabetes insipidus, nephrogenic, x-linked 10.7 AQP2 AVPR2
33 lymphatic malformations 10.7 PKD1 PKD2
34 mitral valve disease 10.7 ACE AGT NOS3
35 renal artery disease 10.7 ACE NOS3 REN
36 adrenal gland pheochromocytoma 10.7 MTOR NOS3
37 renal artery obstruction 10.7 ACE REN
38 orthostatic proteinuria 10.7 ACE ALB REN
39 malignant hypertension 10.6 ACE AGT REN
40 fibromuscular dysplasia 10.6 ACE AGT REN
41 renovascular hypertension 10.6 ACE NOS3 REN
42 renal hypertension 10.6 ACE ALB REN
43 ascending cholangitis 10.6 ALB PKDREJ PRKD1
44 adult hepatocellular carcinoma 10.6 EGF TSC2
45 microvascular complications of diabetes 5 10.6 ACE ALB NOS3
46 renal tubular dysgenesis 10.6 ACE AGT REN
47 hepatic vascular disease 10.6 ALB NOS3 REN
48 respiratory system disease 10.6 ACE ALB CFTR
49 hypertension, diastolic 10.6 ACE REN
50 aneurysm 10.6

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:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 PKD2 NOS3 CFTR EGF HNF1B AQP2
2 homeostasis/metabolism MP:0005376 10.28 BICC1 NOS3 ALB CFTR AQP2 HNF1B
3 endocrine/exocrine gland MP:0005379 10.27 PKD2 NOS3 ALB CFTR EGF HNF1B
4 cardiovascular system MP:0005385 10.26 AGT BICC1 NOS3 ACE PKD1 MTOR
5 mortality/aging MP:0010768 10.22 PKD2 NOS3 CFTR ALB HNF1B AQP2
6 hematopoietic system MP:0005397 10.2 CFTR NOS3 AQP2 ACE AVPR2 PKD1
7 immune system MP:0005387 10.14 MTOR AGT CFTR EGF NOS3 HNF1B
8 digestive/alimentary MP:0005381 10.11 BICC1 EGF ALB NOS3 CFTR PKD1
9 liver/biliary system MP:0005370 10.11 NOS3 CFTR ALB HNF1B ACE PKD1
10 muscle MP:0005369 9.86 AGT ALB NOS3 HNF1B PKD1 MTOR
11 normal MP:0002873 9.85 NOS3 EGF ALB CFTR PKD1 MTOR
12 renal/urinary system MP:0005367 9.8 NOS3 ALB HNF1B AQP2 ACE PKD1
13 reproductive system MP:0005389 9.4 NOS3 CFTR EGF 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 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Cilnidipine Approved, Investigational Phase 4,Phase 2 132203-70-4 5282138
4
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
5
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
6
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
7
Curcumin Approved, Investigational Phase 4 458-37-7 969516
8
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
9
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
10 calcium channel blockers Phase 4,Phase 2
11 Adrenergic Agents Phase 4
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
19 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Antihypertensive Agents Phase 4,Phase 2,Phase 3
22 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
24 Calcium, Dietary Phase 4,Phase 2
25 Peripheral Nervous System Agents Phase 4,Phase 2
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
27 Anticholesteremic Agents Phase 4,Phase 3
28 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
29 Antimetabolites Phase 4,Phase 3,Phase 2
30 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
31 Analgesics Phase 4
32 Analgesics, Non-Narcotic Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Anti-Inflammatory Agents, Non-Steroidal Phase 4
35 Antirheumatic Agents Phase 4
36
Octreotide Approved, Investigational Phase 3 83150-76-9 6400441 383414
37
Tolvaptan Approved Phase 3,Phase 2 150683-30-0 216237
38 lanreotide Approved Phase 2, 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 1994-09-7, 94-09-7 2337
41 tannic acid Approved, Nutraceutical Phase 2, Phase 3
42 Triptolide Investigational Phase 3 38748-32-2
43
Lactitol Investigational Phase 3 585-86-4 3871
44 Alkylating Agents Phase 3
45 Contraceptive Agents Phase 3
46 Contraceptive Agents, Male Phase 3
47 Liver Extracts Phase 3,Phase 2
48 Calcineurin Inhibitors Phase 3
49 Natriuretic Agents Phase 3,Phase 2
50 Gastrointestinal Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 92)

# 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 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3 Tolvaptan
23 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
24 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)
25 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
26 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
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 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 in Subjects With Autosomal Dominant Polycystic Kidney Disease (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 Long-Term Treatment and Follow up of Subjects Completing 24 Months of Treatment With Tesevatinib on Study KD019-101 Terminated NCT02616055 Phase 2 tesevatinib
50 Mesenchymal Stem Cells Transplantation in Patients With Chronic Renal Failure Due to Polycystic Kidney Disease Completed NCT02166489 Phase 1

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 28

Anatomical Context for Autosomal Dominant Polycystic Kidney Disease

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

18
The Kidney

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

38
Kidney, Liver, Heart, Brain, Endothelial, Testes, Neutrophil

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 672)
# Title Authors Year
1
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
2
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
3
3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease. ( 29306987 )
2018
4
A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model. ( 29439650 )
2018
5
Nutritional therapy in autosomal dominant polycystic kidney disease. ( 29344814 )
2018
6
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
7
A case of unilateral nephrectomy performed for autosomal dominant polycystic kidney disease with marked unilateral enlargement. ( 29388169 )
2018
8
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. ( 29423204 )
2018
9
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials. ( 29306517 )
2018
10
Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease. ( 29420817 )
2018
11
Ganetespib limits ciliation and cystogenesis in autosomal-dominant polycystic kidney disease (ADPKD). ( 29401581 )
2018
12
Recommendations for Diagnostic and Prognostic Evaluation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with a Focus on Imaging. ( 29382260 )
2018
13
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
14
Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations. ( 29430193 )
2018
15
Hepatopleural Fistula with Empyema Thoracis: A Rare Complication of Autosomal Dominant Polycystic Kidney Disease. ( 29379816 )
2018
16
Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection. ( 29378535 )
2018
17
Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease. ( 28792715 )
2017
18
Role of Urinary Neutrophil Gelatinase-Associated Lipocalin for Predicting the Severity of Renal Functions in Patients With Autosomal-Dominant Polycystic Kidney Disease. ( 28583565 )
2017
19
Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study. ( 28915698 )
2017
20
Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease. ( 28509123 )
2017
21
Acute aortic syndrome in autosomal dominant polycystic kidney disease. ( 28087011 )
2017
22
Effect of tolvaptan on renal handling of water and sodium, GFR and central hemodynamics in autosomal dominant polycystic kidney disease during inhibition of the nitric oxide system: a randomized, placebo-controlled, double blind, crossover study. ( 28810844 )
2017
23
Kidney dysfunction following adrenalectomy in autosomal dominant polycystic kidney disease complicated with primary aldosteronism: A case report. ( 28810583 )
2017
24
The Longitudinal Study of Liver Cysts inA Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease. ( 29142941 )
2017
25
Heterozygosity analysis of polycystic kidney disease 1 gene microsatellite markers for linkage analysis of autosomal dominant polycystic kidney disease type 1 in the Iranian population. ( 29026418 )
2017
26
Relationship between intracranial aneurysms and the severity of autosomal dominant polycystic kidney disease. ( 28884237 )
2017
27
Insights into cellular and molecular basis for urinary tract infection in autosomal dominant polycystic kidney disease. ( 28794066 )
2017
28
The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians. ( 29326913 )
2017
29
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, andA Prognosis. ( 28356211 )
2017
30
Total kidney and liver volume is a major risk factor for malnutrition in ambulatory patients with autosomal dominant polycystic kidney disease. ( 28088190 )
2017
31
Anesthetic management in a patient of autosomal dominant polycystic kidney disease with end stage renal disease undergoing endovascular coiling for multiple intracranial aneurysms. ( 28781456 )
2017
32
Is It Ethical to Test Apparently "Healthy" Children for Autosomal Dominant Polycystic Kidney Disease and Risk Medicalizing Thousands? ( 29404310 )
2017
33
Multicentric papillary and chromophobe renal cell carcinomas in a patient with autosomal dominant polycystic kidney disease: Report of a rare case. ( 28937383 )
2017
34
[Analysis of PKD1 gene mutation in a family affected with autosomal dominant polycystic kidney disease]. ( 28604956 )
2017
35
Natural history of intracranial aneurysms in autosomal dominant polycystic kidney disease. ( 28843770 )
2017
36
Autosomal Dominant Polycystic Kidney Disease Transplant Recipients After Kidney Transplantation: A Single-center Experience. ( 28838432 )
2017
37
European ADPKD Forum multidisciplinary position statement on autosomal dominant polycystic kidney disease care: European ADPKD Forum and Multispecialist Roundtable participants. ( 29309655 )
2017
38
Genetics and Autosomal Dominant Polycystic Kidney Disease Progression. ( 28535524 )
2017
39
Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder? ( 29326910 )
2017
40
Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity - an adult and pediatric cohort study. ( 28856014 )
2017
41
Real-world costs of autosomal dominant polycystic kidney disease in the Nordics. ( 28806944 )
2017
42
Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. ( 28838955 )
2017
43
Comparison of MRI segmentation techniques for measuring liver cyst volumes in autosomal dominant polycystic kidney disease. ( 28846875 )
2017
44
T1 vs. T2 weighted magnetic resonance imaging to assess total kidney volume in patients with autosomal dominant polycystic kidney disease. ( 28871393 )
2017
45
Image texture features predict renal function decline in patients with autosomal dominant polycystic kidney disease. ( 28532709 )
2017
46
Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation. ( 28927462 )
2017
47
The Association of Combined Total Kidney and Liver Volume with Pain and Gastrointestinal Symptoms in Patients with Later Stage Autosomal Dominant Polycystic Kidney Disease. ( 28881341 )
2017
48
STAT5 drives abnormal proliferation in autosomal dominant polycystic kidney disease. ( 28104302 )
2017
49
Effect of renal transcatheter arterial embolization on quality of life in patients with autosomal dominant polycystic kidney disease. ( 28873973 )
2017
50
A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease. ( 28784653 )
2017

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1 PKD1, IVSDS, G-C, +1 single nucleotide variant Pathogenic
2 PKD1 NM_001009944.2(PKD1): c.12124C> T (p.Gln4042Ter) single nucleotide variant Pathogenic rs199476094 GRCh37 Chromosome 16, 2140689: 2140689
3 PKD1 PKD1, 15-BP DEL deletion Pathogenic
4 PKD1 NM_001009944.2(PKD1): c.12682C> T (p.Arg4228Ter) single nucleotide variant Pathogenic rs199476095 GRCh37 Chromosome 16, 2139958: 2139958
5 PKD1 NM_001009944.2(PKD1): c.11512C> T (p.Gln3838Ter) single nucleotide variant Pathogenic rs199476096 GRCh37 Chromosome 16, 2141807: 2141807
6 PKD1 NM_001009944.2(PKD1): c.12261T> A (p.Cys4087Ter) single nucleotide variant Pathogenic rs199476097 GRCh37 Chromosome 16, 2140469: 2140469
7 PKD1 NM_001009944.2(PKD1): c.11457C> A (p.Tyr3819Ter) single nucleotide variant Pathogenic rs199476098 GRCh37 Chromosome 16, 2141862: 2141862
8 PKD1 PKD1, 12036G-A single nucleotide variant Pathogenic
9 PKD1 PKD1, 28-BP DEL, NT6434 deletion Pathogenic
10 PKD1 PKD1, IVS14AS, G-A, -1 single nucleotide variant Pathogenic
11 PKD1 NM_001009944.2(PKD1): c.971G> T (p.Arg324Leu) single nucleotide variant Pathogenic rs199476099 GRCh37 Chromosome 16, 2168022: 2168022
12 PKD1 NM_001009944.2(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic rs199476100 GRCh37 Chromosome 16, 2164490: 2164490
13 PKD1 NM_001009944.2(PKD1): c.5764C> T (p.Gln1922Ter) single nucleotide variant Pathogenic rs199476101 GRCh37 Chromosome 16, 2159404: 2159404
14 PKD1 PKD1, 2-BP DEL, 5224AG deletion Pathogenic
15 PKD1 NM_001009944.2(PKD1): c.12420G> A (p.Trp4140Ter) single nucleotide variant Pathogenic rs199476102 GRCh37 Chromosome 16, 2140310: 2140310
16 PKD1 PKD1, 3-BP DEL, EX20 AND 8-BP DEL, EX21 deletion Pathogenic
17 PKD1 NM_001009944.2(PKD1): c.9829C> T (p.Arg3277Cys) single nucleotide variant Pathogenic rs148812376 GRCh38 Chromosome 16, 2099955: 2099955
18 PKD1 NM_000296.3(PKD1): c.445delC (p.Gln149Serfs) deletion Pathogenic rs796052133 GRCh38 Chromosome 16, 2118760: 2118760
19 PKD1 NM_001009944.2(PKD1): c.11900_11925del26insAAGCTAGTGA (p.Val3967Glufs) indel Pathogenic rs886040959 GRCh37 Chromosome 16, 2140963: 2140988
20 PKD1 NM_001009944.2(PKD1): c.10583G> A (p.Trp3528Ter) single nucleotide variant Pathogenic rs1057516041 GRCh38 Chromosome 16, 2094127: 2094127
21 PKD1 NM_001009944.2(PKD1): c.3543T> A (p.Tyr1181Ter) single nucleotide variant Pathogenic rs1057516206 GRCh38 Chromosome 16, 2111624: 2111624
22 PKD1 NM_001009944.2(PKD1): c.12310_12311delGT (p.Val4104Tyrfs) deletion Pathogenic rs1060499718 GRCh37 Chromosome 16, 2140419: 2140420
23 PKD1 NM_001009944.2(PKD1): c.11277C> G (p.Tyr3759Ter) single nucleotide variant Pathogenic rs369825780 GRCh38 Chromosome 16, 2092181: 2092181
24 PKD1 NM_001009944.2(PKD1): c.6424delC (p.Gln2142Argfs) deletion Pathogenic rs1060499702 GRCh38 Chromosome 16, 2108743: 2108743
25 PKD1 NM_001009944.2(PKD1): c.6299C> A (p.Ser2100Ter) single nucleotide variant Pathogenic rs539793378 GRCh38 Chromosome 16, 2108868: 2108868
26 PKD2 NM_000297.3(PKD2): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs1060503526 GRCh38 Chromosome 4, 88038380: 88038380
27 PKD1 NM_001009944.2(PKD1): c.10220+2_10220+3delTG deletion Pathogenic rs1114167366 GRCh38 Chromosome 16, 2097725: 2097726
28 PKD2 NM_000297.3(PKD2): c.1319+1G> A single nucleotide variant Pathogenic rs1131692280 GRCh37 Chromosome 4, 88964610: 88964610
29 PKD1 NM_001009944.2(PKD1): c.5021delC (p.Pro1674Argfs) deletion Pathogenic GRCh38 Chromosome 16, 2110146: 2110146
30 PKD1 NM_001009944.2(PKD1): c.3503dup (p.Val1169Cysfs) duplication Pathogenic GRCh38 Chromosome 16, 2111664: 2111664
31 PKD1 NM_001009944.2(PKD1): c.11078C> A (p.Ser3693Ter) single nucleotide variant Pathogenic rs745912756 GRCh37 Chromosome 16, 2143033: 2143033
32 PKD1 NM_001009944.2(PKD1): c.10560dup (p.Pro3521Alafs) duplication Pathogenic GRCh37 Chromosome 16, 2144151: 2144151
33 PKD1 NM_001009944.2(PKD1): c.7428C> A (p.Cys2476Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2156460: 2156460
34 PKD1 NM_001009944.2(PKD1): c.8704C> T (p.Gln2902Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2103353: 2103353
35 PKD2 NM_000297.3(PKD2): c.514delG (p.Asp172Thrfs) deletion Pathogenic GRCh37 Chromosome 4, 88929399: 88929399
36 PKD1 NM_001009944.2(PKD1): c.11338_11344dup (p.Asp3782Glyfs) duplication Pathogenic GRCh38 Chromosome 16, 2092114: 2092120
37 PKD1 NM_000296.3(PKD1): c.2631_2632insCCCTG (p.Val878Profs) insertion Pathogenic GRCh37 Chromosome 16, 2164392: 2164393
38 PKD2 NC_000004.12: g.(?_88007714)_(88058123_?)del deletion Pathogenic GRCh38 Chromosome 4, 88007714: 88058123
39 PKD2 NM_000297.3(PKD2): c.1579_1580delTA (p.Tyr527Glnfs) deletion Pathogenic GRCh38 Chromosome 4, 88052021: 88052022
40 PKD2 NM_000297.3(PKD2): c.1774C> T (p.Arg592Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 88977295: 88977295
41 PKD2 NM_000297.3(PKD2): c.203dup (p.Ala69Glyfs) duplication Pathogenic GRCh38 Chromosome 4, 88007936: 88007936
42 PKD1 NM_001009944.2(PKD1): c.12499delA (p.Arg4167Glyfs) deletion Pathogenic GRCh38 Chromosome 16, 2090140: 2090140
43 PKD1 NM_001009944.2(PKD1): c.8998dup (p.Arg3000Profs) duplication Pathogenic GRCh37 Chromosome 16, 2152585: 2152585
44 PKD1 NM_001009944.2(PKD1): c.10487delT (p.Leu3496Argfs) deletion Pathogenic GRCh38 Chromosome 16, 2097160: 2097160
45 PKD1 NM_001009944.2(PKD1): c.11314delG (p.Ala3772Profs) deletion Pathogenic GRCh38 Chromosome 16, 2092144: 2092144
46 PKD1 NM_001009944.2(PKD1): c.5809delT (p.Ser1937Profs) deletion Pathogenic GRCh38 Chromosome 16, 2109358: 2109358
47 PKD1 NM_001009944.2(PKD1): c.1148C> A (p.Ser383Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2167845: 2167845
48 PKD1 NM_001009944.2(PKD1): c.10348G> T (p.Glu3450Ter) single nucleotide variant Pathogenic rs780009030 GRCh37 Chromosome 16, 2147377: 2147377

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 9.86 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 spinal cord development GO:0021510 9.67 MTOR PKD1 PKD2
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 positive regulation of protein tyrosine kinase activity GO:0061098 9.65 ACE AGT EGF
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 renin-angiotensin regulation of aldosterone production GO:0002018 9.55 AGT REN
24 metanephric ascending thin limb development GO:0072218 9.54 PKD1 PKD2
25 regulation of blood volume by renin-angiotensin GO:0002016 9.51 AGT REN
26 angiotensin maturation GO:0002003 9.5 ACE 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 calcium channel activity GO:0005262 8.92 PKD1 PKD2 PKD2L1 PKDREJ

Sources for Autosomal Dominant Polycystic Kidney Disease

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