PKD
MCID: PLY014
MIFTS: 53

Polycystic Kidney Disease (PKD) malady

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Polycystic Kidney Disease

Aliases & Descriptions for Polycystic Kidney Disease:

Name: Polycystic Kidney Disease 71 50 25
Polycystic Kidney Diseases 52 69
Pkd 50 25
Polycystic Renal Disease 25
Polycystic Kidneys 50

Classifications:



Summaries for Polycystic Kidney Disease

NIH Rare Diseases : 50 polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. the growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. cysts may also develop in other organs, particularly the liver. however, signs and symptom severity can vary greatly from person to person. treatment is tailored to the individual based upon their signs and symptoms.the two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance:(1) autosomal dominant polycystic kidney disease (adpkd) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. adpkd can be further divided into type 1 and type 2, depending on the underlying genetic cause.(2) autosomal recessive polycystic kidney disease (arpkd) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. some people with arpkd do not develop symptoms until later in childhood or even adulthood. last updated: 12/8/2011

MalaCards based summary : Polycystic Kidney Disease, also known as polycystic kidney diseases, is related to autosomal dominant polycystic kidney disease and polycystic kidney disease 2. An important gene associated with Polycystic Kidney Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting). The drugs Candesartan and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and smooth muscle, and related phenotype is renal/urinary system.

Genetics Home Reference : 25 Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.

Wikipedia : 71 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder... more...

Related Diseases for 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 Polycystic Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant polycystic kidney disease 12.6
2 polycystic kidney disease 2 12.5
3 polycystic kidney disease, adult type i 12.4
4 polycystic kidney disease 3 12.4
5 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.1
6 polycystic kidney and hepatic disease 12.0
7 polycystic kidney disease 1, autosomal dominant 12.0
8 polycystic kidney disease 2, autosomal dominant 12.0
9 polycystic liver disease 11.3
10 orofaciodigital syndrome i 11.2
11 cystic kidney disease 11.2
12 kidney disease 11.2
13 orofaciodigital syndrome 11.2
14 caroli disease 11.1
15 potter's syndrome 11.0
16 polycyctic kidney disease 3 11.0
17 potter syndrome type 1 10.8
18 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.8
19 nephronophthisis 14 10.8
20 hepatitis 10.4
21 aneurysm 10.4
22 congenital hepatic fibrosis 10.3
23 liver disease 10.2
24 endotheliitis 10.2
25 intracranial aneurysm 10.2
26 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.2 PKD1 PKHD1
27 colorectal cancer, hereditary nonpolyposis, type 2 10.2 PKD1 PKD2
28 tuberous sclerosis 10.2
29 kidney papillary necrosis 10.1 PKD1 PKD2 PKHD1
30 peritonitis 10.1
31 dicer1-related disorders 10.1 PKD1 PKHD1
32 joubert syndrome 10 10.0 IFT88 PKDREJ
33 renal cell carcinoma 10.0
34 holoprosencephaly 8 10.0 PKD1 PKD2 PKD3 PKDREJ
35 t-cell large granular lymphocyte leukemia 10.0 PKD1 PKD2 PKDREJ PKHD1
36 nephrolithiasis 10.0
37 nephronophthisis 10.0
38 anemia, hemolytic, rh-null, regulator type 10.0 IFT88 PKD1 PKD2 PKHD1
39 glomerulonephritis 10.0
40 aortic aneurysm 10.0
41 cystic fibrosis 10.0
42 psoriasis susceptibility 13 9.9 ENPP1 PKD1 PKD2 PKHD1
43 pyelonephritis 9.9
44 situs inversus 9.9
45 nephrotic syndrome 9.9
46 retinitis 9.9
47 ciliopathy 9.9
48 hypoxia 9.9
49 adenoma 9.9
50 hyperaldosteronism 9.9

Comorbidity relations with Polycystic Kidney Disease via Phenotypic Disease Network (PDN):


Acute Cystitis Acute Kidney Failure
Chronic Kidney Failure Deficiency Anemia
Heart Disease Hypertension, Essential
Ischemic Heart Disease Kidney Disease

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



Diseases related to Polycystic Kidney Disease

Symptoms & Phenotypes for Polycystic Kidney Disease

MGI Mouse Phenotypes related to Polycystic Kidney Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 ENPP1 IFT88 PKD1 PKD1L1 PKD2 PKHD1

Drugs & Therapeutics for Polycystic Kidney Disease

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

(show top 50) (show all 189)
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
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
7
Mycophenolic acid Approved Phase 4 24280-93-1 446541
8
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
9
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
11
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
12
Angiotensin II Phase 4,Phase 3,Phase 2 68521-88-0, 11128-99-7 65143 172198
13
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
14 calcium channel blockers Phase 4,Phase 3,Phase 2
15 Adrenergic Agents Phase 4
16 Adrenergic Antagonists Phase 4
17 Adrenergic alpha-Antagonists Phase 4
18 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
19 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
20 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
21 Angiotensinogen Phase 4,Phase 3,Phase 2
22 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,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 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
26 Antihypertensive Agents Phase 4,Phase 3,Phase 2
27 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
28 Calcium, Dietary Phase 4,Phase 3,Phase 2,Early Phase 1
29 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1
30 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
31 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1
32 Peripheral Nervous System Agents Phase 4,Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
34 Protective Agents Phase 4,Phase 3,Phase 2
35 Autonomic Agents Phase 4,Phase 2
36 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Early Phase 1
37
Curcumin Phase 4 458-37-7 969516
38 Analgesics Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Anti-Inflammatory Agents Phase 4
41 Anti-Inflammatory Agents, Non-Steroidal Phase 4
42 Antirheumatic Agents Phase 4
43 Calcineurin Inhibitors Phase 4,Phase 3
44 Prednisolone acetate Phase 4
45 glucocorticoids Phase 4
46 Neuroprotective Agents Phase 4
47 Immunoglobulins Phase 4
48 Prednisolone hemisuccinate Phase 4
49 Prednisolone phosphate Phase 4
50 Antiemetics Phase 4

Interventional clinical trials:

(show top 50) (show all 123)
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 Weight Loss Improves Renal Hemodynamics Completed NCT01356394 Phase 4
4 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4
5 Prednisone Withdrawal Versus Prednisone Maintenance After Kidney Transplant Terminated NCT00596947 Phase 4
6 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3
7 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3
8 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3
9 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3
10 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3
11 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3
12 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3
13 A Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3
14 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3
15 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3
16 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
17 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3
18 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3
19 Tolvaptan Phase 3 Efficacy and Safety Study in ADPKD Completed NCT00428948 Phase 3
20 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3
21 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3
22 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3
23 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3
24 Lanreotide Autogel in the Treatment of Symptomatic Polycystic Liver Disease Completed NCT01315795 Phase 2, Phase 3
25 Lanreotide In Polycystic Kidney Disease Study Recruiting NCT02127437 Phase 3
26 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Recruiting NCT02134899 Phase 3
27 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3
28 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3
29 Efficacy and Safety of DLBS3233 in Subjects With Polycystic Ovary Syndrome (PCOS) Recruiting NCT01733459 Phase 3
30 PCOS Treatment Using DLBS3233, Metformin, and Combination of Both Recruiting NCT01999686 Phase 3
31 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
32 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Active, not recruiting NCT01377246 Phase 3
33 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3
34 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
35 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3
36 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
37 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3
38 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2
39 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2
40 Autosomal Dominant Polycystic Kidney Disease (ADPKD) Pain Study Unknown status NCT00571909 Phase 2
41 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2
42 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
43 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2
44 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2
45 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
46 Short-Term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2
47 Dose-finding Study of New Tolvaptan Formulation in Subjects With ADPKD Completed NCT01210560 Phase 2
48 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2
49 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2
50 Tolvaptan Open-Label Pilot Efficacy, Tolerability and Safety Study in ADPKD Completed NCT00413777 Phase 2

Search NIH Clinical Center for Polycystic Kidney Disease

Genetic Tests for Polycystic Kidney Disease

Anatomical Context for Polycystic Kidney Disease

MalaCards organs/tissues related to Polycystic Kidney Disease:

39
Kidney, Liver, Smooth Muscle, Endothelial, Prostate, Bone, Testes

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 1216)
id Title Authors Year
1
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. ( 28083701 )
2017
2
Acute aortic syndrome in autosomal dominant polycystic kidney disease. ( 28087011 )
2017
3
Image texture features predict renal function decline in patients with autosomal dominant polycystic kidney disease. ( 28532709 )
2017
4
Genetics and Autosomal Dominant Polycystic Kidney Disease Progression. ( 28535524 )
2017
5
Polycystic kidney disease: Autophagy boost to treat ADPKD? ( 28090082 )
2017
6
Total kidney and liver volume is a major risk factor for malnutrition in ambulatory patients with autosomal dominant polycystic kidney disease. ( 28088190 )
2017
7
Focal segmental glomerulosclerosis in atypical polycystic kidney disease. ( 28063418 )
2017
8
Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis. ( 26950445 )
2016
9
Correction: An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula. ( 27936068 )
2016
10
Do metabolic derangements in end-stage polycystic kidney disease differ versus other primary kidney diseases? ( 27653449 )
2016
11
Peritoneal dialysis for autosomal dominant polycystic kidney disease: a retrospective study. ( 27143265 )
2016
12
Cancer in patients with inherited ciliopathies: polycystic kidney disease. ( 27550647 )
2016
13
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. ( 27059743 )
2016
14
Autophagy activators suppress cystogenesis in an autosomal dominant polycystic kidney disease model. ( 28007903 )
2016
15
Urine Osmolality, Response to Tolvaptan, and Outcome in Autosomal Dominant Polycystic Kidney Disease: Results from the TEMPO 3:4 Trial. ( 27920153 )
2016
16
Autosomal recessive polycystic kidney disease diagnosed in a 39 year-old women with kidney failure and cramps. ( 26976269 )
2016
17
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis. ( 27053712 )
2016
18
Hyperaldosteronism and cardiovascular risk in patients with autosomal dominant polycystic kidney disease. ( 27442639 )
2016
19
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
20
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. ( 27577987 )
2016
21
Frequency of Nerve Root Sleeve Cysts in Autosomal Dominant Polycystic Kidney Disease. ( 27994919 )
2016
22
Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease. ( 27548646 )
2016
23
Dose-Titrated Vasopressin V2 Receptor Antagonist Improves Renoprotection in a Mouse Model for Autosomal Dominant Polycystic Kidney Disease. ( 27578560 )
2016
24
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
25
Large hemorrhagic ovarian cyst in postmenopausal patient with autosomal dominant polycystic kidney disease. ( 27795640 )
2016
26
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
27
Effect of resveratrol on progression of polycystic kidney disease: a case of cautious optimism. ( 27190353 )
2016
28
Polycystic kidney disease: Cilia and mechanosensation revisited. ( 27140854 )
2016
29
Functional and therapeutic importance of purinergic signaling in polycystic kidney disease. ( 27654892 )
2016
30
Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease. ( 27891514 )
2016
31
Evidence-based clinical practice guidelines for polycystic kidney disease 2014. ( 27095364 )
2016
32
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
33
Low-Osmolar Diet and Adjusted Water Intake for Vasopressin Reduction in Autosomal Dominant Polycystic Kidney Disease: AA Pilot Randomized Controlled Trial. ( 27663039 )
2016
34
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry. ( 27555106 )
2016
35
Screening for Unruptured Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Survey of 420 Nephrologists. ( 27054719 )
2016
36
Simultaneous adult polycystic kidney disease and Alport syndrome. ( 27436620 )
2016
37
Environmental hit on a genetic basis in polycystic kidney disease. ( 27558561 )
2016
38
Relationship of urinary endothelin-1 with estimated glomerular filtration rate in autosomal dominant polycystic kidney disease: a pilot cross-sectional analysis. ( 26923419 )
2016
39
Autosomal dominant polycystic kidney disease: recent advances in clinical management. ( 27594986 )
2016
40
Resveratrol delays polycystic kidney disease progression through attenuation of nuclear factor I_B-induced inflammation. ( 27190325 )
2016
41
Performance of the CKD-EPI Equation to Estimate GFR in a Longitudinal Study of Autosomal Dominant Polycystic Kidney Disease. ( 28027795 )
2016
42
The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs. ( 27768895 )
2016
43
Case report of renal pelvis squamous cell carcinoma with tumor embolus in autosomal dominant polycystic kidney disease. ( 27537592 )
2016
44
Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease. ( 27595491 )
2016
45
[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease]. ( 27577217 )
2016
46
Fatty Acid Oxidation is Impaired in An Orthologous Mouse Model of Autosomal Dominant Polycystic Kidney Disease. ( 27077126 )
2016
47
Glioma in patients with autosomal dominant polycystic kidney disease. ( 27565461 )
2016
48
Crystal Structure of a Two-Domain Fragment of Hepatocyte Growth Factor Activator Inhibitor-1: Functional Interactions between the Kunitz-Type Inhibitor Domain-1 and the Neighboring Polycystic Kidney Disease-like Domain. ( 27189939 )
2016
49
Vascular endothelial growth factor as an angiogenesis biomarker for the progression of autosomal dominant polycystic kidney disease. ( 26909926 )
2016
50
Pleuritic chest pain from portal hypertensive gastropathy in ESRD patient with autosomal dominant polycystic kidney disease misdiagnosed as pericarditis. ( 27069969 )
2016

Variations for Polycystic Kidney Disease

Expression for Polycystic Kidney Disease

LifeMap Discovery
Genes differentially expressed in tissues of Polycystic Kidney Disease patients vs. healthy controls: 35 (show top 50) (show all 400)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ALDOB aldolase B, fructose-bisphosphate Kidney - 10.06 0.000
2 UMOD uromodulin Kidney - 8.99 0.000
3 PAH phenylalanine hydroxylase Kidney - 8.60 0.000
4 ALB albumin Kidney - 8.46 0.000
5 CALB1 calbindin 1, 28kDa Kidney - 8.41 0.000
6 NAT8 N-acetyltransferase 8 (GCN5-related, putative) Kidney - 8.17 0.000
7 KNG1 kininogen 1 Kidney - 7.94 0.000
8 ACSM2A acyl-CoA synthetase medium-chain family member 2A Kidney - 7.94 0.000
9 GLYATL1 glycine-N-acyltransferase-like 1 Kidney - 7.82 0.000
10 GSTA1 glutathione S-transferase alpha 1 Kidney - 7.82 0.000
11 MFAP5 microfibrillar associated protein 5 Kidney + 7.82 0.000
12 DIO1 deiodinase, iodothyronine, type I Kidney - 7.73 0.000
13 MIOX myo-inositol oxygenase Kidney - 7.62 0.000
14 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) Kidney - 7.62 0.000
15 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 Kidney - 7.58 0.000
16 SLC17A3 solute carrier family 17 (organic anion transporter), member 3 Kidney - 7.56 0.000
17 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Kidney - 7.44 0.000
18 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 Kidney - 7.40 0.000
19 DPYS dihydropyrimidinase Kidney - 7.33 0.000
20 SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 Kidney - 7.30 0.000
21 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 Kidney - 7.26 0.000
22 SFRP4 secreted frizzled-related protein 4 Kidney + 7.25 0.000
23 SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 Kidney - 7.23 0.000
24 GBA3 glucosidase, beta, acid 3 (gene/pseudogene) Kidney - 7.18 0.000
25 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 7.17 0.000
26 SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 Kidney - 7.12 0.000
27 TMEM27 transmembrane protein 27 Kidney - 7.11 0.000
28 HAO2 hydroxyacid oxidase 2 (long chain) Kidney - 7.03 0.000
29 ACMSD aminocarboxymuconate semialdehyde decarboxylase Kidney - 6.93 0.000
30 PLG plasminogen Kidney - 6.90 0.000
31 AZGP1 alpha-2-glycoprotein 1, zinc-binding Kidney - 6.88 0.000
32 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) Kidney - 6.88 0.000
33 MME membrane metallo-endopeptidase Kidney - 6.85 0.000
34 AGXT2 alanine--glyoxylate aminotransferase 2 Kidney - 6.83 0.000
35 GLYAT glycine-N-acyltransferase Kidney - 6.79 0.000
36 SFRP2 secreted frizzled-related protein 2 Kidney + 6.73 0.000
37 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 Kidney - 6.73 0.000
38 GDA guanine deaminase Kidney - 6.68 0.000
39 AFM afamin Kidney - 6.67 0.000
40 G6PC glucose-6-phosphatase, catalytic subunit Kidney - 6.57 0.000
41 XIST X inactive specific transcript (non-protein coding) Kidney + 6.52 0.002
42 CTXN3 cortexin 3 Kidney - 6.50 0.000
43 SCARA5 scavenger receptor class A, member 5 Kidney + 6.44 0.000
44 FGG fibrinogen gamma chain Kidney + 6.41 0.000
45 CLRN3 clarin 3 Kidney - 6.41 0.000
46 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 Kidney - 6.41 0.000
47 CTHRC1 collagen triple helix repeat containing 1 Kidney + 6.41 0.000
48 FMO1 flavin containing monooxygenase 1 Kidney - 6.35 0.000
49 TMEM174 transmembrane protein 174 Kidney - 6.34 0.000
50 SLC22A7 solute carrier family 22 (organic anion transporter), member 7 Kidney - 6.32 0.000
Search GEO for disease gene expression data for Polycystic Kidney Disease.

Pathways for Polycystic Kidney Disease

GO Terms for Polycystic Kidney Disease

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

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 IFT88 PKD1 PKD1L1 PKD2 PKD2L1 PKHD1
2 ciliary basal body GO:0036064 9.61 IFT88 PKD2 PKHD1
3 motile cilium GO:0031514 9.58 IFT88 PKD1 PKD2
4 calcium channel complex GO:0034704 9.46 PKD1L1 PKD2L1
5 non-motile cilium GO:0097730 9.33 PKD1L1 PKD2 PKD2L1
6 polycystin complex GO:0002133 9.32 PKD1 PKD2
7 cation channel complex GO:0034703 9.26 PKD1L3 PKD2L1
8 ciliary membrane GO:0060170 9.26 PKD1 PKD1L1 PKD2 PKD2L1
9 cilium GO:0005929 9.1 IFT88 PKD1 PKD1L1 PKD2 PKD2L1 PKHD1

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2
2 single organismal cell-cell adhesion GO:0016337 9.73 PKD1 PKD1L1 PKHD1
3 kidney development GO:0001822 9.62 PKD1 PKD1L3 PKD2 PKHD1
4 spinal cord development GO:0021510 9.6 PKD1 PKD2
5 JAK-STAT cascade GO:0007259 9.59 PKD1 PKD2
6 renal system development GO:0072001 9.58 PKD1 PKD2
7 embryonic placenta development GO:0001892 9.57 PKD1 PKD2
8 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
9 cytoplasmic sequestering of transcription factor GO:0042994 9.55 PKD1 PKD2
10 calcium ion transport GO:0006816 9.55 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1
11 placenta blood vessel development GO:0060674 9.54 PKD1 PKD2
12 cellular response to acidic pH GO:0071468 9.52 PKD1L3 PKD2L1
13 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
14 mesonephric tubule development GO:0072164 9.49 PKD1 PKD2
15 mesonephric duct development GO:0072177 9.48 PKD1 PKD2
16 sensory perception of sour taste GO:0050915 9.46 PKD1L3 PKD2L1
17 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
18 detection of nodal flow GO:0003127 9.4 PKD1L1 PKD2
19 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.37 PKD1L3 PKD2L1
20 detection of mechanical stimulus GO:0050982 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
21 transport GO:0006810 10.13 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2

Molecular functions related to 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 ENPP1 PKD1L2 PKD2 PKD2L1 PKD2L2 PKDREJ
2 cation channel activity GO:0005261 9.4 PKD1L3 PKD2L1
3 alpha-actinin binding GO:0051393 9.37 PKD2 PKD2L1
4 muscle alpha-actinin binding GO:0051371 9.32 PKD2 PKD2L1
5 cation transmembrane transporter activity GO:0008324 9.26 PKD1L3 PKD2L1
6 calcium channel activity GO:0005262 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
7 sour taste receptor activity GO:0033040 8.96 PKD1L3 PKD2L1

Sources for 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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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