MCID: ATS347
MIFTS: 61

Autosomal Dominant Polycystic Kidney Disease

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

Aliases & Classifications for Autosomal Dominant Polycystic Kidney Disease

MalaCards integrated aliases for Autosomal Dominant Polycystic Kidney Disease:

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

Characteristics:

GeneReviews:

25
Penetrance Penetrance in adpkd is age and genotype dependent. the penetrance of multiple bilateral renal cysts in older adults is close to 100%. however, because the disease is progressive, few cysts may be evident during childhood or young adulthood, especially in individuals with nontruncating pkd1 pathogenic variants or pathogenic variants in pkd2, ganab, or dnajb11...

Classifications:



External Ids:

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

Summaries for Autosomal Dominant Polycystic Kidney Disease

NIH Rare Diseases : 54 Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. It is the most common inherited disorder of the kidneys. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. The most common symptoms are pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, brain aneurysms, and diverticulosis. About 90 percent of all cases of polycystic kidney disease (PKD) are inherited in an autosomal dominant fashion. ADPKD is caused by mutations in the PKD1 and PKD2 gene. Although there is no cure for ADPKD, treatment can ease symptoms and prolong life.

MalaCards based summary : Autosomal Dominant Polycystic Kidney Disease, also known as polycystic kidney disease, autosomal dominant, is related to polycystic kidney disease 2 with or without polycystic liver disease and polycystic kidney disease 1 with or without polycystic liver disease. An important gene associated with Autosomal Dominant Polycystic Kidney Disease is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel), and among its related pathways/superpathways are p70S6K Signaling and Phospholipase D signaling pathway. The drugs Angiotensin II and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 A polycystic kidney disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.

Wikipedia : 77 Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal,... more...

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 366)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 2 with or without polycystic liver disease 33.3 GANAB HNF1B PKD1 PKD2 PKD2L1 PKDREJ
2 polycystic kidney disease 1 with or without polycystic liver disease 33.2 AQP2 CFTR HNF1B MTOR PKD1 PKD2
3 polycystic liver disease 33.1 ALB GANAB PKD1 PKD2 PKHD1
4 polycystic kidney disease 3 with or without polycystic liver disease 33.0 GANAB PKD1 PKD2 PRKD1
5 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.0 PKD1 TSC2
6 polycystic liver disease 1 with or without kidney cysts 32.9 HNF1B PKD1 PKD2 PKHD1 TSC2
7 polycystic kidney disease 32.9 ACE AQP2 AVPR2 CFTR GANAB HNF1B
8 caroli disease 32.4 PKD1 PKHD1
9 kidney disease 32.0 ACE AGT ALB AQP2 FGF23 GANAB
10 potter's syndrome 32.0 AGT BICC1 REN
11 end stage renal failure 31.6 ACE AGT ALB PKD1
12 chronic kidney failure 31.3 ACE AGT ALB FGF23 PKD1 PKD2
13 congenital hepatic fibrosis 31.3 PKD1 PKHD1 REN
14 liver disease 31.3 ALB GANAB PKD1 PKD2 PKHD1
15 tuberous sclerosis 31.3 MTOR PKD1 TSC2
16 iga glomerulonephritis 31.1 ACE ALB REN
17 cystic kidney disease 31.1 ALB CFTR HNF1B PKD1 PKD2 PKD2L1
18 diabetes mellitus 31.0 ACE AGT ALB HNF1B MTOR REN
19 multicystic dysplastic kidney 30.8 PKD1 PKD2 REN
20 renal hypertension 30.8 ACE ALB REN
21 pulmonary edema 30.7 ACE CFTR REN
22 obstructive nephropathy 30.7 ACE AGT ALB REN
23 microvascular complications of diabetes 3 30.5 ACE AGT ALB
24 hypertension, essential 30.5 ACE AGT ALB PKD1 PKD2 REN
25 renal dysplasia, cystic 30.4 BICC1 PKD1
26 malignant hypertension 30.4 ACE AGT REN
27 tuberous sclerosis 2 30.4 MTOR PKD1 TSC2
28 interstitial nephritis 30.4 ACE AGT ALB REN
29 kidney angiomyolipoma 30.4 MTOR TSC2
30 hypokalemia 30.3 ACE AQP2 REN
31 diabetes insipidus 30.3 AQP2 AVP AVPR2 REN
32 polycystic kidney disease 4 with or without polycystic liver disease 30.2 AQP2 AVPR2 HNF1B PKD1 PKD2 PKHD1
33 polycystic kidney disease 5 12.8
34 polycystic kidney disease 4 12.5
35 gillessen-kaesbach-nishimura syndrome 11.9
36 orofaciodigital syndrome i 11.8
37 nephronophthisis 11.4
38 orofaciodigital syndrome 11.4
39 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.2
40 nephronophthisis 14 11.1
41 dengue hemorrhagic fever 11.0
42 chronic interstitial cystitis 11.0
43 renal cell carcinoma, nonpapillary 10.7
44 loeffler syndrome 10.6 ACE ALB
45 pediatric hypertension 10.6 ACE AGT
46 hypoaldosteronism 10.5 ACE REN
47 lymphatic malformations 10.5 PKD1 PKD2
48 renal artery disease 10.5 ACE AGT REN
49 diabetes insipidus, nephrogenic, x-linked 10.5 AQP2 AVPR2
50 nephrolithiasis 10.5

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



Diseases related to Autosomal Dominant Polycystic Kidney Disease

Symptoms & Phenotypes for Autosomal Dominant Polycystic Kidney Disease

MGI Mouse Phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

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

Drugs & Therapeutics for Autosomal Dominant Polycystic Kidney Disease

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

(show top 50) (show all 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
2
Candesartan cilexetil Approved Phase 4,Phase 2 145040-37-5 2540
3
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 53123-88-9 46835353 5284616 6436030
4
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 159351-69-6 70789204 6442177
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 22916-47-8 4189
6
Tolvaptan Approved Phase 4,Phase 3,Phase 2,Not Applicable 150683-30-0 216237
7
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
8
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
9
Calcium Approved, Nutraceutical Phase 4,Phase 2 7440-70-2 271
10
Candesartan Experimental Phase 4,Phase 2 139481-59-7 2541
11
Cilnidipine Investigational Phase 4,Phase 2 132203-70-4 5282138
12 Adrenergic alpha-Antagonists Phase 4
13 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 2
14 Calcium, Dietary Phase 4,Phase 2
15 Giapreza Phase 4,Phase 2
16 Adrenergic Antagonists Phase 4
17 Antihypertensive Agents Phase 4,Phase 2,Phase 3
18 Angiotensin Receptor Antagonists Phase 4,Phase 2
19 Angiotensin II Type 1 Receptor Blockers Phase 4
20 Angiotensinogen Phase 4,Phase 2
21 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
22 Adrenergic Agents Phase 4,Not Applicable
23 calcium channel blockers Phase 4,Phase 2
24 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Natriuretic Agents Phase 4,Phase 3,Phase 2,Not Applicable
31 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Not Applicable
32 Antidiuretic Hormone Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
33 Vasopressins Phase 4,Phase 3,Phase 2,Not Applicable
34 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
35 Antimetabolites Phase 4,Phase 3,Phase 2
36 Anticholesteremic Agents Phase 4,Phase 3
37 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
38 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
39 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
40 Anti-Inflammatory Agents Phase 4,Not Applicable
41 Analgesics Phase 4
42 Anti-Inflammatory Agents, Non-Steroidal Phase 4
43 Analgesics, Non-Narcotic Phase 4
44 Antirheumatic Agents Phase 4
45
lanreotide Approved Phase 3,Phase 2 108736-35-2
46
Somatostatin Approved, Investigational Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
47
Octreotide Approved, Investigational Phase 3,Phase 2 83150-76-9 6400441 383414
48
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
49
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
50
Metformin Approved Phase 3,Phase 2 657-24-9 14219 4091

Interventional clinical trials:

(show top 50) (show all 106)
# 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 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Not yet recruiting NCT03949894 Phase 4 Tolvaptan
7 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
8 Study of Lanreotide to Treat Polycystic Kidney Disease Unknown status NCT01616927 Phase 3 Lanreotide
9 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
10 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)
11 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
12 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
13 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Completed NCT01377246 Phase 3 Octreotide-LAR
14 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
15 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
16 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
17 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
18 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
19 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
20 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
21 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
22 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
23 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
24 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
25 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
26 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
27 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
28 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
29 Lanreotide In Polycystic Kidney Disease Study Active, not recruiting NCT02127437 Phase 3 Lanreotide;saline
30 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
31 A Trial of Bardoxolone Methyl in Patients With ADPKD - FALCON Not yet recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
32 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
33 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
34 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
35 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
36 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
37 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
38 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
39 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
40 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
41 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
42 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
43 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
44 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
45 A Safety, Pharmacokinetic and Dose-Escalation Study of KD019 (Tesevatinib) in Subjects With ADPKD Completed NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)
46 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
47 Pasireotide LAR in Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
48 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
49 The ELiSA Study - Evaluation of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03487913 Phase 2 Lixivaptan
50 Study of the Efficacy and Safety of Tesevatinib in Subjects With ADPKD Recruiting NCT03203642 Phase 2 Tesevatinib;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 30

Anatomical Context for Autosomal Dominant Polycystic Kidney Disease

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

42
Kidney, Liver, Heart, Endothelial, Brain, Pancreas, Testes

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

20
The Kidney

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 1863)
# Title Authors Year
1
Risk of Ascending Aortic Aneurysm in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 30477801 )
2019
2
Aortic Dissection Associated with Autosomal Dominant Polycystic Kidney Disease: A Case Report. ( 30806618 )
2019
3
A Rare Case Report of Emphysematous Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30814802 )
2019
4
Autosomal dominant polycystic kidney disease. ( 30819518 )
2019
5
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. ( 30858458 )
2019
6
Plasma copeptin levels predict disease progression and tolvaptan efficacy in autosomal dominant polycystic kidney disease. ( 30898339 )
2019
7
Long-term trajectory of kidney function in autosomal-dominant polycystic kidney disease. ( 30922668 )
2019
8
Bioelectrical impedance analysis as a nutritional assessment tool in Autosomal Dominant Polycystic Kidney Disease. ( 30947248 )
2019
9
Octreotide-LAR in later-stage autosomal dominant polycystic kidney disease (ALADIN 2): A randomized, double-blind, placebo-controlled, multicenter trial. ( 30951521 )
2019
10
Prostatic cyst in autosomal dominant polycystic kidney disease: unusual association. ( 30954962 )
2019
11
CT of Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: Accuracy, Reproducibility, and Radiation Dose. ( 30964424 )
2019
12
Early Urinary Biomarkers in Pediatric Autosomal Dominant Polycystic Kidney Disease (ADPKD): No Evidence in the Interest of Urinary Neutrophil Gelatinase-Associated Lipocalin (uNGAL). ( 30968008 )
2019
13
Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients. ( 30989420 )
2019
14
Endothelin-1 as a therapeutic target in autosomal dominant polycystic kidney disease
. ( 30990410 )
2019
15
Subarachnoid Hemorrhage in Hospitalized Renal Transplant Recipients with Autosomal Dominant Polycystic Kidney Disease: A Nationwide Analysis. ( 30999564 )
2019
16
Uroflowmetry alterations in patients with autosomal dominant polycystic kidney disease. ( 31002123 )
2019
17
Splenic artery aneurysm in a patient of autosomal dominant polycystic kidney disease: beyond tenuous concomitance! ( 31005868 )
2019
18
Modelling the long-term benefits of tolvaptan therapy on renal function decline in autosomal dominant polycystic kidney disease: an exploratory analysis using the ADPKD outcomes model. ( 31014270 )
2019
19
Proteomic Analysis of Urinary Microvesicles and Exosomes in Medullary Sponge Kidney Disease and Autosomal Dominant Polycystic Kidney Disease. ( 31018934 )
2019
20
Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013-2015. ( 31019924 )
2019
21
Pretransplant Nephrectomy for Large Polycystic Kidneys in ADPKD (Autosomal Dominant Polycystic Kidney Disease) Patients: Is Peritoneal Dialysis Recovery Possible after Surgery? ( 31019972 )
2019
22
Morphological evaluation of sympathetic renal innervation in patients with autosomal dominant polycystic kidney disease. ( 31025246 )
2019
23
Autosomal dominant polycystic kidney disease: new role for ultrasound. ( 31028448 )
2019
24
Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD). ( 31039757 )
2019
25
A study of sirolimus and an mTOR kinase inhibitor (TORKi) in a hypomorphic Pkd1 mouse model of autosomal dominant polycystic kidney disease (ADPKD). ( 31042058 )
2019
26
Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial. ( 31053954 )
2019
27
A Case Report of Autosomal Dominant Polycystic Kidney Disease Under Peritoneal Dialysis With Cyst Infection and Culture-Positive Peritoneal Fluid. ( 31065220 )
2019
28
Somatostatin in renal physiology and autosomal dominant polycystic kidney disease. ( 31077332 )
2019
29
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. ( 31079206 )
2019
30
Growth Pattern of Kidney Cyst Number and Volume in Autosomal Dominant Polycystic Kidney Disease. ( 31088850 )
2019
31
Pancreatic Cysts and Intraductal Papillary Mucinous Neoplasm in Autosomal Dominant Polycystic Kidney Disease. ( 31091218 )
2019
32
Liver Involvement in Autosomal Dominant Polycystic Kidney Disease. ( 31091376 )
2019
33
Oxidative stress in autosomal dominant polycystic kidney disease: player and/or early predictor for disease progression? ( 30105413 )
2019
34
The association between autosomal dominant polycystic kidney disease and cancer. ( 30109558 )
2019
35
Autosomal Dominant Polycystic Kidney Disease with Emphysematous Polycystic Renal Infection That Required Surgical Treatment. ( 30146585 )
2019
36
Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease. ( 30230107 )
2019
37
Pro: Tolvaptan delays the progression of autosomal dominant polycystic kidney disease. ( 30312438 )
2019
38
Con: Tolvaptan for autosomal dominant polycystic kidney disease-do we know all the answers? ( 30312449 )
2019
39
Sarcoidosis in the renal allograft of a recipient whose primary disease was autosomal dominant polycystic kidney disease. ( 30328079 )
2019
40
Impact of miR-192 and miR-194 on cyst enlargement through EMT in autosomal dominant polycystic kidney disease. ( 30332302 )
2019
41
Ciprofloxacin penetration into infected hepatic cysts in autosomal dominant polycystic kidney disease: a case report. ( 30452619 )
2019
42
Factors Influencing Cyst Infection in Autosomal Dominant Polycystic Kidney Disease. ( 30513520 )
2019
43
Population Pharmacokinetic Analyses and Model Validation of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease. ( 30618157 )
2019
44
Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. ( 30631912 )
2019
45
Urinary T cells correlate with rate of renal function loss in autosomal dominant polycystic kidney disease. ( 30632307 )
2019
46
Pharmacokinetic Evaluation of Nimotuzumab in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 30633365 )
2019
47
MRI in autosomal dominant polycystic kidney disease. ( 30637853 )
2019
48
Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes. ( 30639418 )
2019
49
Autosomal dominant polycystic kidney disease: Disrupted pathways and potential therapeutic interventions. ( 30644092 )
2019
50
A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report. ( 30651829 )
2019

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD2 NM_000297.3(PKD2): c.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 rs750077647 GRCh37 Chromosome 4, 88929190: 88929192
14 PKD2 NM_000297.3(PKD2): c.305_307dupAGG (p.Glu102_Val103insGlu) duplication Benign/Likely benign rs750077647 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 ACE AGT FGF23 MTOR PRKD1 REN
2
Show member pathways
11.95 AVP AVPR2 MTOR TSC2
3 11.17 ACE AGT REN
4 10.78 AQP2 AVP AVPR2

GO Terms for Autosomal Dominant Polycystic Kidney Disease

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

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

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

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

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

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

Sources for Autosomal Dominant Polycystic Kidney Disease

3 CDC
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11 DGIdb
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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