MCID: ATS347
MIFTS: 61

Autosomal Dominant Polycystic Kidney Disease

Categories: Rare diseases, Genetic diseases, Nephrological 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 50 14
Adpkd 23 50 24 52
Polycystic Kidney Disease, Autosomal Dominant 23 24 29
Polycystic Kidney Disease, Adult Type 50 29
Polycystic Kidney Diseases 42 69
Polycystic Kidney and Hepatic Disease 1 12
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 33 Q61.3
ICD9CM 35 753.12
MeSH 42 D007690
NCIt 47 C75464
UMLS 69 C0022680

Summaries for Autosomal Dominant Polycystic Kidney Disease

NIH Rare Diseases : 50 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 pyelonephritis and primary hyperoxaluria. 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 PI3K-Akt signaling pathway. The drugs Candesartan and Cilnidipine have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are Decreased cell migration and cardiovascular system

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.

Wikipedia : 72 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 2
Polycystic Kidney Disease 3 Polycystic Kidney Disease 1
Autosomal Dominant Polycystic Kidney Disease Polycystic Kidney Disease 1, Autosomal Dominant
Polycystic Kidney Disease 2, Autosomal Dominant

Diseases related to Autosomal Dominant Polycystic Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 169)
id Related Disease Score Top Affiliating Genes
1 pyelonephritis 31.1 ACE CFTR NOS3 REN
2 primary hyperoxaluria 31.0 ACE REN
3 polycystic kidney disease 2 11.9
4 polycystic kidney disease 1 11.8
5 polycystic kidney disease 11.7
6 polycystic kidney disease 4, with or without hepatic disease 11.3
7 polycystic liver disease 11.3
8 kidney disease 11.3
9 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.1
10 chromosome 17p deletion 11.0 PKD1 TSC2
11 kohlschutter-tonz syndrome 11.0 PKD1 TSC2
12 polycystic kidney disease 3 10.9
13 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.9
14 polycystic liver disease 1 10.9
15 caroli disease 10.9
16 potter's syndrome 10.9
17 smith-mccort dysplasia 2 10.9 PKD1 PKD2
18 hypothyroidism due to iodide transport defect 10.8 ACE REN
19 buschke-ollendorff syndrome 10.8 TSC1 TSC2
20 clitoris cancer 10.8 ACE NOS3 REN
21 lymphadenitis 10.7 ACE NOS3 REN
22 neuropathy, hereditary sensory, type if 10.7 PKD1 PKD2 PKDREJ
23 atrial septal defect 7, with or without av conduction defects 10.7 ACE REN
24 mody, type ii 10.7 ACE REN
25 myopia 10.7 ACE AQP2 REN
26 pulmonary valve insufficiency 10.7 ACE AQP2 REN
27 cystic fibrosis and congenital absence of the vas deferens 10.7 PKD1 PKHD1 REN
28 diabetic encephalopathy 10.6 ACE NOS3 REN
29 dengue hemorrhagic fever 10.6
30 chronic interstitial cystitis 10.6
31 periampullary adenoma 10.6 ACE NOS3 REN
32 fragile x-associated tremor/ataxia syndrome 10.6 PKD1 PKHD1
33 hypodontia of incisors and premolars 10.6 ACE REN
34 pediatric angiosarcoma 10.6 ACE AQP2 REN
35 focal cortical dysplasia, type ii, somatic 10.6 MTOR TSC1 TSC2
36 cauda equina intradural extramedullary astrocytoma 10.6 MTOR TSC1 TSC2
37 cauda equina neoplasm 10.6 MTOR TSC1 TSC2
38 cascade stomach 10.6 ACE PKHD1 REN
39 hypertrichosis 10.6 ACE NOS3 REN
40 chronic myelomonocytic leukemia 10.6 ACE PKD1 PKD2 REN
41 gallbladder papillomatosis 10.6 MTOR TSC1 TSC2
42 mixed epithelial stromal tumour 10.6 MTOR TSC1 TSC2
43 survival motor neuron spinal muscular atrophy 10.6 ACE NOS3 REN
44 listeriosis 10.6 ACE REN
45 aneurysm 10.6
46 gangliosidosis gm2 10.5 MTOR TSC1 TSC2
47 gangliosidosis gm1 10.5 MTOR MYC
48 charcot-marie-tooth disease, type 1c 10.5 PKD1 PKD2 PKD2L1 TSC2
49 benign struma ovarii 10.5 REN TSC1 TSC2
50 posterior mediastinum cancer 10.5 MTOR PKDREJ

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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.02 ENPP1 MTOR PKD1 PKD2 TSC1

MGI Mouse Phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 TSC2 ACE ENPP1 MTOR MYC NOS3
2 growth/size/body region MP:0005378 10.36 ACE AQP2 CFTR EGF ENPP1 MTOR
3 homeostasis/metabolism MP:0005376 10.32 ACE AQP2 CFTR ENPP1 MTOR MYC
4 behavior/neurological MP:0005386 10.3 ACE AQP2 CFTR ENPP1 MTOR MYC
5 endocrine/exocrine gland MP:0005379 10.3 TSC2 ACE CFTR EGF MTOR MYC
6 mortality/aging MP:0010768 10.27 NOS3 PCSK2 PKD1 PKD2 PKHD1 PRKCSH
7 hematopoietic system MP:0005397 10.24 PKD1 PKD2 PKHD1 REN TSC2 ACE
8 immune system MP:0005387 10.2 ACE CFTR EGF ENPP1 MTOR MYC
9 liver/biliary system MP:0005370 10.14 ACE CFTR ENPP1 MYC NOS3 PKD1
10 digestive/alimentary MP:0005381 10.08 CFTR EGF MYC NOS3 PKD1 PKD2
11 integument MP:0010771 10.03 ENPP1 MYC PCSK2 PKD1 TSC1 TSC2
12 renal/urinary system MP:0005367 9.97 ACE AQP2 ENPP1 MTOR NOS3 PCSK2
13 normal MP:0002873 9.96 CFTR EGF MTOR MYC NOS3 PKD1
14 muscle MP:0005369 9.92 ENPP1 MTOR MYC NOS3 PKD1 PRKD1
15 reproductive system MP:0005389 9.77 PKDREJ PKHD1 REN TSC1 TSC2 ACE
16 respiratory system MP:0005388 9.17 CFTR MTOR NOS3 PKD1 PKD2 PKHD1

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 130)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan Approved Phase 4,Phase 2 139481-59-7 2541
2
Cilnidipine Approved Phase 4,Phase 2 132203-70-4 5282138
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
6
Pravastatin Approved Phase 4,Phase 3 81093-37-0 54687
7
Angiotensin II Investigational Phase 4,Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
8
Curcumin Investigational Phase 4 458-37-7 969516
9 Adrenergic Agents Phase 4
10 Adrenergic alpha-Antagonists Phase 4
11 Adrenergic Antagonists Phase 4
12 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
13 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
14 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
15 Angiotensinogen Phase 4,Phase 3,Phase 2
16 Antihypertensive Agents Phase 4,Phase 3,Phase 2
17 calcium channel blockers Phase 4,Phase 3,Phase 2
18 Calcium, Dietary Phase 4,Phase 3,Phase 2
19
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
20 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
22 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Anticholesteremic Agents Phase 4,Phase 3
26 Antimetabolites Phase 4,Phase 3,Phase 2
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
28 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
29 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
30 Peripheral Nervous System Agents Phase 4,Phase 2
31 Anti-Inflammatory Agents Phase 4
32 Analgesics Phase 4
33 Analgesics, Non-Narcotic Phase 4
34 Anti-Inflammatory Agents, Non-Steroidal Phase 4
35 Antirheumatic Agents Phase 4
36 lanreotide Approved Phase 2, Phase 3 108736-35-2
37
Tolvaptan Approved Phase 3,Phase 2 150683-30-0 216237
38
Somatostatin Approved Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
39
Octreotide Approved, Investigational Phase 3,Phase 2 83150-76-9 383414 6400441
40
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
41
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
42
Clonidine Approved Phase 3 4205-90-7 2803
43
Diltiazem Approved Phase 3 42399-41-7 39186
44
Hydralazine Approved Phase 3 86-54-4 3637
45
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
46
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
47
Minoxidil Approved Phase 3 38304-91-5 4201
48
Benzocaine Approved Phase 2, Phase 3 1994-09-7, 94-09-7 2337
49 tannic acid Approved, Nutraceutical Phase 2, Phase 3
50 Triptolide Investigational Phase 3 38748-32-2

Interventional clinical trials:

(show top 50) (show all 93)

id 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 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
7 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
8 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
9 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
10 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
11 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
12 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
13 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
14 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
15 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
16 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
17 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
18 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
19 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
20 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3 Tolvaptan
21 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
22 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
23 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
24 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
25 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Recruiting NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
26 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
27 Lanreotide In Polycystic Kidney Disease Study Recruiting NCT02127437 Phase 3 Lanreotide;saline
28 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)
29 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Active, not recruiting NCT01377246 Phase 3 Octreotide-LAR
30 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
31 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
32 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
33 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
34 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
35 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
36 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
37 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
38 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
39 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
40 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
41 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
42 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
43 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
44 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
45 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
46 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02656017 Phase 2 Metformin
47 Feasibility Study of Metformin Therapy in ADPKD Recruiting NCT02903511 Phase 2 Metformin;Placebo
48 Tesevatinib in Subjects With ADPKD Recruiting NCT03203642 Phase 2 Tesevatinib;Placebo
49 Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02697617 Phase 2 Pioglitazone;Placebo
50 A Safety, Pharmacokinetic and Dose-Escalation Study of KD019 in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)

Search NIH Clinical Center for Autosomal Dominant Polycystic Kidney Disease

Cochrane evidence based reviews: polycystic kidney diseases

Genetic Tests for Autosomal Dominant Polycystic Kidney Disease

Genetic tests related to Autosomal Dominant Polycystic Kidney Disease:

id Genetic test Affiliating Genes
1 Polycystic Kidney Disease, Adult Type 29
2 Polycystic Kidney Disease, Autosomal Dominant 29 24 PKD2

Anatomical Context for Autosomal Dominant Polycystic Kidney Disease

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

39
Kidney, Liver, Heart, Brain, Pancreas, Endothelial, Testes

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 646)
id Title Authors Year
1
Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity - an adult and pediatric cohort study. ( 28856014 )
2017
2
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
3
Comparison of MRI segmentation techniques for measuring liver cyst volumes in autosomal dominant polycystic kidney disease. ( 28846875 )
2017
4
T1 vs. T2 weighted magnetic resonance imaging to assess total kidney volume in patients with autosomal dominant polycystic kidney disease. ( 28871393 )
2017
5
Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. ( 28838955 )
2017
6
Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease. ( 28792715 )
2017
7
Insights into cellular and molecular basis for urinary tract infection in autosomal dominant polycystic kidney disease. ( 28794066 )
2017
8
Real-world costs of autosomal dominant polycystic kidney disease in the Nordics. ( 28806944 )
2017
9
Acute aortic syndrome in autosomal dominant polycystic kidney disease. ( 28087011 )
2017
10
A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease. ( 28784653 )
2017
11
Relationship between intracranial aneurysms and the severity of autosomal dominant polycystic kidney disease. ( 28884237 )
2017
12
Kidney dysfunction following adrenalectomy in autosomal dominant polycystic kidney disease complicated with primary aldosteronism: A case report. ( 28810583 )
2017
13
Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation. ( 28927462 )
2017
14
Autosomal Dominant Polycystic Kidney Disease Transplant Recipients After Kidney Transplantation: A Single-center Experience. ( 28838432 )
2017
15
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
16
Multicentric papillary and chromophobe renal cell carcinomas in a patient with autosomal dominant polycystic kidney disease: Report of a rare case. ( 28937383 )
2017
17
Natural history of intracranial aneurysms in autosomal dominant polycystic kidney disease. ( 28843770 )
2017
18
Effect of renal transcatheter arterial embolization on quality of life in patients with autosomal dominant polycystic kidney disease. ( 28873973 )
2017
19
Total kidney and liver volume is a major risk factor for malnutrition in ambulatory patients with autosomal dominant polycystic kidney disease. ( 28088190 )
2017
20
Image texture features predict renal function decline in patients with autosomal dominant polycystic kidney disease. ( 28532709 )
2017
21
Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease. ( 28509123 )
2017
22
Genetics and Autosomal Dominant Polycystic Kidney Disease Progression. ( 28535524 )
2017
23
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
24
Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study. ( 28915698 )
2017
25
Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis. ( 26950445 )
2016
26
Positive Predictive Values of International Classification of Diseases, 10th Revision Coding Algorithms to Identify Patients With Autosomal Dominant Polycystic Kidney Disease. ( 28781884 )
2016
27
Pleuritic chest pain from portal hypertensive gastropathy in ESRD patient with autosomal dominant polycystic kidney disease misdiagnosed as pericarditis. ( 27069969 )
2016
28
Tolvaptan suppresses monocyte chemotactic protein-1 excretion in autosomal-dominant polycystic kidney disease. ( 27190355 )
2016
29
Re: Live Donor Renal Transplant with Simultaneous Bilateral Nephrectomy for Autosomal Dominant Polycystic Kidney Disease is Feasible and Satisfactory at Long-Term Follow-up. ( 27628816 )
2016
30
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease. ( 26823553 )
2016
31
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016
32
Autophagy activators suppress cystogenesis in an autosomal dominant polycystic kidney disease model. ( 28007903 )
2016
33
The Risk for New-Onset Diabetes Mellitus after Kidney Transplantation in Patients with Autosomal Dominant Polycystic Kidney Disease: A Systematic Review and Meta-Analysis. ( 27184299 )
2016
34
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System. ( 27835667 )
2016
35
Peritoneal dialysis for autosomal dominant polycystic kidney disease: a retrospective study. ( 27143265 )
2016
36
Autosomal dominant polycystic kidney disease: recent advances in clinical management. ( 27594986 )
2016
37
Case report of renal pelvis squamous cell carcinoma with tumor embolus in autosomal dominant polycystic kidney disease. ( 27537592 )
2016
38
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. ( 27577987 )
2016
39
Health-related quality of life across all stages of autosomal dominant polycystic kidney disease. ( 27662885 )
2016
40
Glioma in patients with autosomal dominant polycystic kidney disease. ( 27565461 )
2016
41
Recent advances in autosomal-dominant polycystic kidney disease. ( 27553994 )
2016
42
Influence of angiotensin converting enzyme (ACE) gene rs4362 polymorphism on the progression of kidney failure in patients with autosomal dominant polycystic kidney disease (ADPKD). ( 27748299 )
2016
43
Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease. ( 27548646 )
2016
44
Performance of the CKD-EPI Equation to Estimate GFR in a Longitudinal Study of Autosomal Dominant Polycystic Kidney Disease. ( 28027795 )
2016
45
Carbohydrate antigen 19-9 is significantly elevated in autosomal dominant polycystic kidney disease. ( 28024168 )
2016
46
Hyperaldosteronism and cardiovascular risk in patients with autosomal dominant polycystic kidney disease. ( 27442639 )
2016
47
Frequency of Nerve Root Sleeve Cysts in Autosomal Dominant Polycystic Kidney Disease. ( 27994919 )
2016
48
Fatty Acid Oxidation is Impaired in An Orthologous Mouse Model of Autosomal Dominant Polycystic Kidney Disease. ( 27077126 )
2016
49
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. ( 26139440 )
2016
50
Low-Osmolar Diet and Adjusted Water Intake for Vasopressin Reduction in Autosomal Dominant Polycystic Kidney Disease: AA Pilot Randomized Controlled Trial. ( 27663039 )
2016

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show all 29)
id 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 PKD1 NM_001009944.2(PKD1): c.5021delC (p.Pro1674Argfs) deletion Pathogenic GRCh38 Chromosome 16, 2110146: 2110146
29 PKD1 NM_001009944.2(PKD1): c.3503dup (p.Val1169Cysfs) duplication Pathogenic GRCh38 Chromosome 16, 2111664: 2111664

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:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 ACE EGF MTOR PRKD1 REN TSC1
2 12.49 EGF MTOR MYC NOS3 TSC1 TSC2
3
Show member pathways
12.35 EGF MTOR MYC PRKD1
4
Show member pathways
12.3 CFTR MTOR TSC1 TSC2
5
Show member pathways
12.23 EGF MTOR TSC1 TSC2
6
Show member pathways
12.21 MTOR MYC TSC1 TSC2
7 11.95 MTOR MYC TSC1 TSC2
8
Show member pathways
11.89 CFTR MTOR NOS3 TSC1 TSC2
9 11.86 CFTR EGF MYC PCSK2
10 11.78 EGF MTOR MYC
11 11.76 EGF MTOR NOS3
12 11.69 NOS3 TSC1 TSC2
13 11.66 MTOR TSC1 TSC2
14 11.51 EGF MTOR MYC
15 11.46 MTOR TSC1 TSC2
16 11.18 MTOR MYC TSC1 TSC2
17 11.11 MTOR TSC1 TSC2
18 11.07 EGF MTOR MYC TSC1 TSC2
19 11.02 MTOR NOS3 TSC2
20 10.88 MTOR MYC TSC1 TSC2
21 10.69 CFTR NOS3

GO Terms for Autosomal Dominant Polycystic Kidney Disease

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.55 ACE AQP2 CFTR EGF ENPP1 MTOR
2 basolateral plasma membrane GO:0016323 9.5 AQP2 ENPP1 PKD1
3 ciliary membrane GO:0060170 9.43 PKD1 PKD2 PKD2L1
4 TSC1-TSC2 complex GO:0033596 9.16 TSC1 TSC2
5 polycystin complex GO:0002133 8.96 PKD1 PKD2
6 plasma membrane GO:0005886 10.18 ACE AQP2 CFTR EGF ENPP1 NOS3

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.87 CFTR EGF TSC1 TSC2
2 liver development GO:0001889 9.78 PKD1 PKD2 PRKCSH
3 regulation of blood pressure GO:0008217 9.72 ACE NOS3 REN
4 calcium ion transmembrane transport GO:0070588 9.71 PKD1 PKD2 PKD2L1 PKDREJ
5 cell cycle arrest GO:0007050 9.63 MTOR MYC PKD1 PKD2 TSC1 TSC2
6 energy reserve metabolic process GO:0006112 9.62 MTOR MYC
7 beta-amyloid metabolic process GO:0050435 9.62 ACE REN
8 negative regulation of macroautophagy GO:0016242 9.61 MTOR TSC1
9 angiotensin maturation GO:0002003 9.6 ACE REN
10 cytoplasmic sequestering of transcription factor GO:0042994 9.59 PKD1 PKD2
11 placenta blood vessel development GO:0060674 9.58 PKD1 PKD2
12 anoikis GO:0043276 9.58 MTOR TSC2
13 negative regulation of cell size GO:0045792 9.56 MTOR TSC1
14 response to fluid shear stress GO:0034405 9.54 NOS3 PKD1
15 spinal cord development GO:0021510 9.54 MTOR PKD1 PKD2
16 regulation of calcium ion import GO:0090279 9.52 EGF PKD2
17 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.51 PKD1 PKD2
18 negative regulation of insulin receptor signaling pathway GO:0046627 9.5 ENPP1 TSC1 TSC2
19 metanephric collecting duct development GO:0072205 9.49 AQP2 PKD1
20 mesonephric tubule development GO:0072164 9.48 PKD1 PKD2
21 mesonephric duct development GO:0072177 9.46 PKD1 PKD2
22 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
23 renal system development GO:0072001 9.43 PKD1 PKD2 PRKCSH
24 detection of mechanical stimulus GO:0050982 9.26 PKD1 PKD2 PKD2L1 PKDREJ
25 kidney development GO:0001822 9.1 ACE PKD1 PKD2 PKHD1 REN TSC1

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.63 EGF ENPP1 PKD2 PKD2L1 PKDREJ PRKCSH
2 phosphoprotein binding GO:0051219 9.13 MTOR PKD2 PRKCSH
3 calcium channel activity GO:0005262 8.92 PKD1 PKD2 PKD2L1 PKDREJ

Sources for Autosomal Dominant Polycystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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