ADPKD
MCID: ATS347
MIFTS: 63

Autosomal Dominant Polycystic Kidney Disease (ADPKD) malady

Categories: Rare diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Autosomal Dominant Polycystic Kidney Disease

Aliases & Descriptions 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 Diseases 42 69
Polycystic Kidney and Hepatic Disease 1 12
Polycystic Kidney Disease, Adult Type 50
Polycystic Kidney, Autosomal Dominant 69
Polycystic Kidney Disease Adult 29
Congenital Biliary Ectasias 12
Polycystic Kidney Disease 14

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 polycythemia. 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 Miconazole 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 : 71 Autosomal dominant polycystic kidney disease (ADPKD, autosomal dominant PKD or adult-onset PKD) is the... more...

GeneReviews: NBK1246

Related Diseases for Autosomal Dominant Polycystic Kidney Disease

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 2 Polycystic Kidney Disease, Adult Type I
Polycystic Kidney Disease 3 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 152)
id Related Disease Score Top Affiliating Genes
1 pyelonephritis 30.4 ACE CFTR NOS3 REN
2 polycythemia 30.0 MTOR TSC1 TSC2
3 polycystic kidney disease 2 11.9
4 polycystic kidney disease 11.7
5 polycystic kidney and hepatic disease 11.6
6 polycystic kidney disease, adult type i 11.6
7 polycystic liver disease 11.3
8 kidney disease 11.3
9 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.1
10 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.9
11 caroli disease 10.9
12 polycystic kidney disease 3 10.9
13 potter's syndrome 10.9
14 dengue hemorrhagic fever 10.6
15 chronic interstitial cystitis 10.6
16 aneurysm 10.5
17 hepatitis 10.4
18 endotheliitis 10.4
19 intracranial aneurysm 10.4
20 liver disease 10.3
21 spermatogenic failure 10 10.3 PKD1 TSC2
22 chromosome 18p tetrasomy 10.3 PKD1 TSC2
23 renal cell carcinoma 10.3
24 congenital hepatic fibrosis 10.3
25 hypotrichosis simplex 10.3 ACE REN
26 nephrolithiasis 10.2
27 iris disease 10.2 ACE NOS3 REN
28 hyperinsulinemic hypoglycemia, familial, 3 10.2 ACE REN
29 lymphadenitis 10.2 ACE NOS3 REN
30 hemolytic anemia due to adenylate kinase deficiency 10.2 MTOR TSC1
31 myopia 10.2 ACE AQP2 REN
32 cascade stomach 10.2 ACE PKHD1 REN
33 pulmonary valve insufficiency 10.2 ACE AQP2 REN
34 aorta angiosarcoma 10.2 ACE AQP2 REN
35 cystic fibrosis 10.2
36 glomerulonephritis 10.2
37 peritonitis 10.2
38 pilocytic astrocytoma 10.2 MTOR TSC1 TSC2
39 capillary hemangioma 10.2 NOS3 PKHD1 REN
40 pleomorphic xanthoastrocytoma 10.2 MTOR TSC1 TSC2
41 auricular cancer 10.2 MTOR TSC1 TSC2
42 gallbladder cancer 10.1 MTOR TSC1 TSC2
43 limb ischemia 10.1 ACE NOS3 REN
44 melorheostosis with osteopoikilosis 10.1 TSC1 TSC2
45 gangliosidosis gm1 10.1 MTOR TSC1 TSC2
46 carbohydrate metabolic disorder 10.1 ACE REN
47 diabetic encephalopathy 10.1 ACE NOS3 REN
48 atrophic vulva 10.1 PKDREJ PKHD1 PRKD1
49 marfan syndrome 10.1
50 tuberous sclerosis 10.1

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 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 ACE ENPP1 MTOR MYC NOS3 PCSK2
2 growth/size/body region MP:0005378 10.36 ACE AQP2 CFTR EGF ENPP1 MTOR
3 homeostasis/metabolism MP:0005376 10.32 AQP2 CFTR ENPP1 MTOR MYC NOS3
4 behavior/neurological MP:0005386 10.3 MTOR MYC NOS3 PCSK2 REN TSC1
5 endocrine/exocrine gland MP:0005379 10.3 ACE CFTR EGF MTOR MYC NOS3
6 mortality/aging MP:0010768 10.27 ENPP1 MTOR MYC NOS3 PCSK2 PKD1
7 hematopoietic system MP:0005397 10.24 ACE AQP2 CFTR MTOR MYC NOS3
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 PKHD1 CFTR EGF MYC NOS3 PKD1
11 adipose tissue MP:0005375 10.04 ACE ENPP1 MTOR MYC NOS3 PKD1
12 integument MP:0010771 10.03 AQP2 EGF ENPP1 MYC PCSK2 PKD1
13 renal/urinary system MP:0005367 9.97 PKHD1 PRKCSH REN TSC1 TSC2 ACE
14 normal MP:0002873 9.96 PKD2 PKHD1 REN TSC2 CFTR EGF
15 muscle MP:0005369 9.92 REN TSC1 ENPP1 MTOR MYC NOS3
16 reproductive system MP:0005389 9.77 ACE AQP2 CFTR EGF MYC NOS3
17 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 131)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan Approved Phase 4,Phase 2 139481-59-7 2541
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
3
Cilnidipine Approved Phase 4,Phase 2 132203-70-4 5282138
4
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
5
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
6
Angiotensin II Phase 4,Phase 3,Phase 2 68521-88-0, 11128-99-7 65143 172198
7
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
8 calcium channel blockers Phase 4,Phase 3,Phase 2
9 Adrenergic Agents Phase 4
10 Adrenergic Antagonists Phase 4
11 Adrenergic alpha-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 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
20 Antihypertensive Agents Phase 4,Phase 3,Phase 2
21 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
22 Calcium, Dietary Phase 4,Phase 3,Phase 2
23 Peripheral Nervous System Agents Phase 4,Phase 2
24
Curcumin Phase 4 458-37-7 969516
25 Analgesics Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4
29 Antirheumatic Agents Phase 4
30
lanreotide Approved Phase 2, Phase 3 108736-35-2
31
Clonidine Approved Phase 3 4205-90-7 2803
32
Pravastatin Approved Phase 3 81093-37-0 54687
33
Minoxidil Approved Phase 3 38304-91-5 4201
34
Lisinopril Approved, Investigational Phase 3 83915-83-7 5362119
35
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
36
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
37
Hydralazine Approved Phase 3 86-54-4 3637
38
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
39
Diltiazem Approved Phase 3 42399-41-7 39186
40
Octreotide Approved, Investigational Phase 3,Phase 2 83150-76-9 383414 6400441
41
Tolvaptan Approved Phase 3,Phase 2 150683-30-0 216237
42
Somatostatin Approved Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
43
Benzocaine Approved Phase 2, Phase 3 1994-09-7, 94-09-7 2337
44 tannic acid Approved, Nutraceutical Phase 2, Phase 3
45 Triptolide Phase 3 38748-32-2
46 Alkylating Agents Phase 3
47
protease inhibitors Phase 3,Phase 2
48 Contraceptive Agents Phase 3
49 Contraceptive Agents, Male Phase 3
50 HIV Protease Inhibitors Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 91)
id Name Status NCT ID Phase
1 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4
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
3 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4
4 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3
5 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3
6 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3
7 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3
8 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3
9 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
10 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
11 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3
12 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
13 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3
14 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3
15 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3
16 Tolvaptan Phase 3 Efficacy and Safety Study in ADPKD Completed NCT00428948 Phase 3
17 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3
18 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3
19 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3
20 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3
21 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3
22 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3
23 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Recruiting NCT02134899 Phase 3
24 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3
25 Lanreotide In Polycystic Kidney Disease Study Recruiting NCT02127437 Phase 3
26 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 Active, not recruiting NCT02160145 Phase 3
27 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Active, not recruiting NCT01377246 Phase 3
28 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3
29 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Enrolling by invitation NCT02251275 Phase 3
30 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3
31 Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD): The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3
32 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2
33 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2
34 Autosomal Dominant Polycystic Kidney Disease (ADPKD) Pain Study Unknown status NCT00571909 Phase 2
35 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2
36 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2
37 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001] Completed NCT00841568 Phase 2
38 Short-Term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2
39 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2
40 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2
41 Dose-finding Study of New Tolvaptan Formulation in Subjects With ADPKD Completed NCT01210560 Phase 2
42 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2
43 Tolvaptan Open-Label Pilot Efficacy, Tolerability and Safety Study in ADPKD Completed NCT00413777 Phase 2
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
46 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02656017 Phase 2
47 Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02697617 Phase 2
48 Feasibility Study of Metformin Therapy in ADPKD Recruiting NCT02903511 Phase 2
49 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
50 Long-Term Treatment and Follow up of Subjects Completing 24 Months of Treatment With Tesevatinib on Study KD019-101 Active, not recruiting NCT02616055 Phase 2

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

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

18
The Kidney

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 620)
id Title Authors Year
1
Acute aortic syndrome in autosomal dominant polycystic kidney disease. ( 28087011 )
2017
2
Image texture features predict renal function decline in patients with autosomal dominant polycystic kidney disease. ( 28532709 )
2017
3
Genetics and Autosomal Dominant Polycystic Kidney Disease Progression. ( 28535524 )
2017
4
Total kidney and liver volume is a major risk factor for malnutrition in ambulatory patients with autosomal dominant polycystic kidney disease. ( 28088190 )
2017
5
Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis. ( 26950445 )
2016
6
Peritoneal dialysis for autosomal dominant polycystic kidney disease: a retrospective study. ( 27143265 )
2016
7
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. ( 27059743 )
2016
8
Autophagy activators suppress cystogenesis in an autosomal dominant polycystic kidney disease model. ( 28007903 )
2016
9
Urine Osmolality, Response to Tolvaptan, and Outcome in Autosomal Dominant Polycystic Kidney Disease: Results from the TEMPO 3:4 Trial. ( 27920153 )
2016
10
Hyperaldosteronism and cardiovascular risk in patients with autosomal dominant polycystic kidney disease. ( 27442639 )
2016
11
Hepatic Cyst Infection During Use of the Somatostatin Analog Lanreotide in Autosomal Dominant Polycystic Kidney Disease: An Interim Analysis of the Randomized Open-Label Multicenter DIPAK-1 Study. ( 27995519 )
2016
12
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. ( 27577987 )
2016
13
Frequency of Nerve Root Sleeve Cysts in Autosomal Dominant Polycystic Kidney Disease. ( 27994919 )
2016
14
Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease. ( 27548646 )
2016
15
Dose-Titrated Vasopressin V2 Receptor Antagonist Improves Renoprotection in a Mouse Model for Autosomal Dominant Polycystic Kidney Disease. ( 27578560 )
2016
16
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
17
Large hemorrhagic ovarian cyst in postmenopausal patient with autosomal dominant polycystic kidney disease. ( 27795640 )
2016
18
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
19
An association between autosomal-dominant polycystic kidney disease and the risk of acute myocardial infarction in Asian population - results of a nationwide study. ( 28038444 )
2016
20
Low-Osmolar Diet and Adjusted Water Intake for Vasopressin Reduction in Autosomal Dominant Polycystic Kidney Disease: AA Pilot Randomized Controlled Trial. ( 27663039 )
2016
21
Screening for Unruptured Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Survey of 420 Nephrologists. ( 27054719 )
2016
22
Relationship of urinary endothelin-1 with estimated glomerular filtration rate in autosomal dominant polycystic kidney disease: a pilot cross-sectional analysis. ( 26923419 )
2016
23
Autosomal dominant polycystic kidney disease: recent advances in clinical management. ( 27594986 )
2016
24
Performance of the CKD-EPI Equation to Estimate GFR in a Longitudinal Study of Autosomal Dominant Polycystic Kidney Disease. ( 28027795 )
2016
25
Case report of renal pelvis squamous cell carcinoma with tumor embolus in autosomal dominant polycystic kidney disease. ( 27537592 )
2016
26
Fatty Acid Oxidation is Impaired in An Orthologous Mouse Model of Autosomal Dominant Polycystic Kidney Disease. ( 27077126 )
2016
27
Glioma in patients with autosomal dominant polycystic kidney disease. ( 27565461 )
2016
28
Vascular endothelial growth factor as an angiogenesis biomarker for the progression of autosomal dominant polycystic kidney disease. ( 26909926 )
2016
29
Pleuritic chest pain from portal hypertensive gastropathy in ESRD patient with autosomal dominant polycystic kidney disease misdiagnosed as pericarditis. ( 27069969 )
2016
30
Recent advances in autosomal-dominant polycystic kidney disease. ( 27553994 )
2016
31
Health-related quality of life across all stages of autosomal dominant polycystic kidney disease. ( 27662885 )
2016
32
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. ( 27165007 )
2016
33
Toll-Like Receptors in the Progression of Autosomal Dominant Polycystic Kidney Disease. ( 27928906 )
2016
34
Carbohydrate antigen 19-9 is significantly elevated in autosomal dominant polycystic kidney disease. ( 28024168 )
2016
35
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016
36
Autosomal dominant polycystic kidney disease diagnosed in utero. Review. ( 27629138 )
2016
37
The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China. ( 27921038 )
2016
38
Tolvaptan suppresses monocyte chemotactic protein-1 excretion in autosomal-dominant polycystic kidney disease. ( 27190355 )
2016
39
Combination drug versus monotherapy for the treatment of autosomal dominant polycystic kidney disease. ( 27650472 )
2016
40
Renal volume and cardiovascular risk assessment in normotensive autosomal dominant polycystic kidney disease patients. ( 27930582 )
2016
41
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. ( 26139440 )
2016
42
Fatal liver cyst rupture in polycystic liver disease complicated with autosomal dominant polycystic kidney disease: A case report. ( 27050907 )
2016
43
Health-Related Quality Of Life (Hrqol) Measures In Autosomal Dominant Polycystic Kidney Disease (Adpkd). ( 26532872 )
2015
44
Increased urinary Angiotensinogen/Creatinine (AGT/Cr) ratio may be associated with reduced renal function in autosomal dominant polycystic kidney disease patients. ( 26092580 )
2015
45
Decade in review-polycystic kidney disease: Slowing progression of autosomal dominant polycystic kidney disease. ( 26460355 )
2015
46
Cyst infection in autosomal dominant polycystic kidney disease: causative microorganisms and susceptibility to lipid-soluble antibiotics. ( 25851811 )
2015
47
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. ( 25786098 )
2015
48
Endovascular Treatment of Intracranial Aneurysms in Patients With Autosomal Dominant Polycystic Kidney Disease. ( 26492429 )
2015
49
Autosomal dominant polycystic kidney disease: identification of two polymorphisms. ( 25847740 )
2015
50
Opposing Effects of Inhibitors of Aurora-A and EGFR in Autosomal-Dominant Polycystic Kidney Disease. ( 26528438 )
2015

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

6 (show all 26)
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 GRCh38 Chromosome 16, 2090962: 2090987
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

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 23)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 ACE EGF MTOR PRKD1 REN TSC1
2 12.33 EGF MTOR MYC NOS3 TSC1 TSC2
3
Show member pathways
12.32 CFTR MTOR TSC1 TSC2
4
Show member pathways
12.26 EGF MTOR TSC1 TSC2
5
Show member pathways
12.24 MTOR MYC TSC1 TSC2
6
Show member pathways
12.19 EGF MTOR MYC TSC2
7
Show member pathways
12.01 MTOR MYC TSC1 TSC2
8 11.97 MTOR MYC TSC1 TSC2
9
Show member pathways
11.89 CFTR MTOR NOS3 TSC1 TSC2
10 11.88 CFTR EGF MYC PCSK2
11 11.8 EGF MTOR MYC
12 11.78 EGF MTOR NOS3
13 11.7 NOS3 TSC1 TSC2
14 11.68 MTOR TSC1 TSC2
15
Show member pathways
11.63 ACE NOS3 REN
16 11.52 EGF MTOR MYC
17 11.47 MTOR TSC1 TSC2
18 11.18 MTOR MYC TSC1 TSC2
19 11.14 MTOR TSC1 TSC2
20 11.07 EGF MTOR MYC TSC1 TSC2
21 11.06 MTOR NOS3 TSC2
22 10.88 MTOR MYC TSC1 TSC2
23 10.71 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 9.89 ACE AQP2 CFTR EGF ENPP1 MTOR
2 basolateral plasma membrane GO:0016323 9.62 AQP2 CFTR 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 8.62 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 28)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.89 CFTR EGF TSC1 TSC2
2 liver development GO:0001889 9.8 PKD1 PKD2 PRKCSH
3 regulation of blood pressure GO:0008217 9.73 ACE NOS3 REN
4 calcium ion transmembrane transport GO:0070588 9.73 PKD1 PKD2 PKD2L1 PKDREJ
5 energy reserve metabolic process GO:0006112 9.64 MTOR MYC
6 beta-amyloid metabolic process GO:0050435 9.63 ACE REN
7 negative regulation of macroautophagy GO:0016242 9.63 MTOR TSC1
8 cell cycle arrest GO:0007050 9.63 MTOR MYC PKD1 PKD2 TSC1 TSC2
9 angiotensin maturation GO:0002003 9.62 ACE REN
10 negative regulation of glucose import GO:0046325 9.61 ENPP1 MYC
11 cytoplasmic sequestering of transcription factor GO:0042994 9.61 PKD1 PKD2
12 placenta blood vessel development GO:0060674 9.6 PKD1 PKD2
13 anoikis GO:0043276 9.58 MTOR TSC2
14 negative regulation of cell size GO:0045792 9.58 MTOR TSC1
15 spinal cord development GO:0021510 9.58 MTOR PKD1 PKD2
16 positive regulation of glial cell proliferation GO:0060252 9.57 MTOR MYC
17 response to fluid shear stress GO:0034405 9.55 NOS3 PKD1
18 regulation of calcium ion import GO:0090279 9.54 EGF PKD2
19 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.52 PKD1 PKD2
20 mesonephric tubule development GO:0072164 9.51 PKD1 PKD2
21 negative regulation of insulin receptor signaling pathway GO:0046627 9.5 ENPP1 TSC1 TSC2
22 metanephric collecting duct development GO:0072205 9.49 AQP2 PKD1
23 mesonephric duct development GO:0072177 9.48 PKD1 PKD2
24 metanephric ascending thin limb development GO:0072218 9.46 PKD1 PKD2
25 renal system development GO:0072001 9.43 PKD1 PKD2 PRKCSH
26 cellular response to hydrostatic pressure GO:0071464 9.37 MYC PKD2
27 detection of mechanical stimulus GO:0050982 9.26 PKD1 PKD2 PKD2L1 PKDREJ
28 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
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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