MCID: PLY014
MIFTS: 52

Polycystic Kidney Disease

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Polycystic Kidney Disease

MalaCards integrated aliases for Polycystic Kidney Disease:

Name: Polycystic Kidney Disease 72 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 diseaserefers 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 1. An important gene associated with Polycystic Kidney Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting). The drugs Candesartan and Cilnidipine have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, 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 : 72 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 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 Polycystic Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 213)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant polycystic kidney disease 12.5
2 polycystic kidney disease 1 12.5
3 polycystic kidney disease 2 12.5
4 polycystic kidney disease 4, with or without hepatic disease 12.4
5 polycystic kidney disease 3 12.4
6 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.3
7 polycystic kidney disease 5 12.2
8 polycystic kidney disease 1, autosomal dominant 12.0
9 polycystic kidney disease 2, autosomal dominant 12.0
10 gillessen-kaesbach-nishimura syndrome 11.5
11 caroli disease 11.4
12 polycystic liver disease 11.3
13 orofaciodigital syndrome i 11.2
14 kidney disease 11.2
15 cystic kidney disease 11.1
16 orofaciodigital syndrome 11.1
17 polycyctic kidney disease 3 11.0
18 potter's syndrome 11.0
19 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.8
20 nephronophthisis 14 10.8
21 polycystic liver disease 1 10.8
22 potter syndrome type 1 10.8
23 smith-mccort dysplasia 2 10.6 PKD1 PKD2
24 fragile x-associated tremor/ataxia syndrome 10.5 PKD1 PKHD1
25 cystic fibrosis and congenital absence of the vas deferens 10.4 PKD1 PKHD1
26 aneurysm 10.4
27 thyroid dyshormonogenesis 1 10.4 PKD1 PKD2 PKHD1
28 hepatitis 10.4
29 gallbladder disease 10.3 PKDREJ PKHD1
30 congenital hepatic fibrosis 10.3
31 joubert syndrome 10 10.3 IFT88 PKDREJ
32 intracranial aneurysm 10.2
33 liver disease 10.2
34 endotheliitis 10.2
35 x-linked sideroblastic anemia with ataxia 10.2 PKD1L1 PKD2 PKDREJ
36 tuberous sclerosis 10.2
37 primary autosomal recessive microcephaly type 2 10.2 PKD1 PKD1P1
38 lymphoplasmacytic lymphoma 10.1 PKD1 PKD2 PKDREJ PKHD1
39 peritonitis 10.1
40 macular dystrophy, patterned, 3 10.1 PKD1 PKD2
41 cerebral atherosclerosis 10.1 PKD1 PKD2 PKHD1
42 renal cell carcinoma 10.1
43 lacrimal gland adenocarcinoma 10.0 IFT88 PKD1 PKD2 PKHD1
44 nephrolithiasis 10.0
45 nephronophthisis 10.0
46 aortic aneurysm 10.0
47 cystic fibrosis 10.0
48 glomerulonephritis 10.0
49 neuropathy, hereditary sensory, type if 9.9 GANAB PKD1 PKD2 PKDREJ
50 pyelonephritis 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 IFT88 NEK1 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 164)
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
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
9
Mycophenolic acid Approved Phase 4 24280-93-1 446541
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
12
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
13
Angiotensin II Investigational Phase 4,Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
14
Curcumin Investigational Phase 4 458-37-7 969516
15 Adrenergic Agents Phase 4
16 Adrenergic alpha-Antagonists Phase 4
17 Adrenergic 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 Antihypertensive Agents Phase 4,Phase 3,Phase 2
23 calcium channel blockers Phase 4,Phase 3,Phase 2
24 Calcium, Dietary Phase 4,Phase 3,Phase 2
25
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
26 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
28 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
29 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Peripheral Nervous System Agents Phase 4,Phase 2
32 Anticholesteremic Agents Phase 4,Phase 3
33 Antimetabolites Phase 4,Phase 3,Phase 2
34 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
35 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
36 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
37 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
38 Autonomic Agents Phase 4,Phase 2
39 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
40 Hormone Antagonists Phase 4,Phase 3,Phase 2
41 Hormones Phase 4,Phase 3,Phase 2
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
43 Protective Agents Phase 4,Phase 3,Phase 2
44 Analgesics Phase 4,Phase 2
45 Analgesics, Non-Narcotic Phase 4,Phase 2
46 Anti-Inflammatory Agents Phase 4,Phase 2
47 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2
48 Antirheumatic Agents Phase 4,Phase 2
49 Calcineurin Inhibitors Phase 4,Phase 3
50 Antibodies Phase 4

Interventional clinical trials:

(show top 50) (show all 110)

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 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 Curcumin
5 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
6 Prednisone Withdrawal Versus Prednisone Maintenance After Kidney Transplant Terminated NCT00596947 Phase 4 prednisone;rabbit antithymocyte globulin;Tacrolimus;Prednisone;Mycophenolate mofetil;Mycophenolate mofetil
7 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
8 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
9 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
10 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
11 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
12 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
13 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
14 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
15 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
16 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
17 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
18 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
19 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
20 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
21 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
22 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
23 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
24 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
25 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3 Tolvaptan
26 Lanreotide In Polycystic Kidney Disease Study Recruiting NCT02127437 Phase 3 Lanreotide;saline
27 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Recruiting NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
28 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
29 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
30 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)
31 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Active, not recruiting NCT01377246 Phase 3 Octreotide-LAR
32 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
33 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
34 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
35 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
36 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
37 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
38 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
39 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
40 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
41 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
42 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
43 Tolvaptan Open-label Pilot Efficacy, Tolerability, and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00413777 Phase 2 Tolvaptan
44 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
45 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
46 Effect of the Aquaretic Tolvaptan on Nitric Oxide System Completed NCT02527863 Phase 2 Tolvaptan;Placebo
47 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
48 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
49 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02656017 Phase 2 Metformin
50 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Recruiting NCT02558595 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, Endothelial, Smooth Muscle, Bone, Prostate, Heart

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 1264)
id Title Authors Year
1
Polycystic kidney disease: PMM2 mutation causes PKD and hyperinsulinism. ( 28435156 )
2017
2
Aberrant Smad3 phosphoisoforms in cyst-lining epithelial cells in the cpk mouse, a model of autosomal recessive polycystic kidney disease. ( 28877884 )
2017
3
Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity - an adult and pediatric cohort study. ( 28856014 )
2017
4
Distinct effects of dietary flax compared to fish oil, soy protein compared to casein, and sex on the renal oxylipin profile in models of polycystic kidney disease. ( 28838555 )
2017
5
Polycystic kidney disease is significantly associated with dementia risk. ( 28855402 )
2017
6
Recent advances in the molecular diagnosis of polycystic kidney disease. ( 28952822 )
2017
7
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
8
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. ( 28638261 )
2017
9
Comparison of MRI segmentation techniques for measuring liver cyst volumes in autosomal dominant polycystic kidney disease. ( 28846875 )
2017
10
Focal segmental glomerulosclerosis in atypical polycystic kidney disease. ( 28063418 )
2017
11
T1 vs. T2 weighted magnetic resonance imaging to assess total kidney volume in patients with autosomal dominant polycystic kidney disease. ( 28871393 )
2017
12
Congenital Hepatic Fibrosis with Polycystic Kidney Disease: An Unusual Cause of Neonatal Cholestasis. ( 28737145 )
2017
13
Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. ( 28838955 )
2017
14
Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease. ( 28792715 )
2017
15
A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome-Review of the Literature. ( 28638817 )
2017
16
Insights into cellular and molecular basis for urinary tract infection in autosomal dominant polycystic kidney disease. ( 28794066 )
2017
17
Real-world costs of autosomal dominant polycystic kidney disease in the Nordics. ( 28806944 )
2017
18
Effectiveness of Peritoneal Dialysis in Treating Adult End Stage Renal Disease Patients with Polycystic Kidney Disease. ( 28877825 )
2017
19
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. ( 28083701 )
2017
20
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family. ( 28827396 )
2017
21
Acute aortic syndrome in autosomal dominant polycystic kidney disease. ( 28087011 )
2017
22
A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease. ( 28784653 )
2017
23
Histone deacetylase 6 Inhibition reduces cysts by decreasing via cAMP and Ca2+ in knockout mouse models of polycystic kidney disease. ( 28887310 )
2017
24
Relationship between intracranial aneurysms and the severity of autosomal dominant polycystic kidney disease. ( 28884237 )
2017
25
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. ( 28530676 )
2017
26
Kidney dysfunction following adrenalectomy in autosomal dominant polycystic kidney disease complicated with primary aldosteronism: A case report. ( 28810583 )
2017
27
Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease. ( 28870863 )
2017
28
Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation. ( 28927462 )
2017
29
Autosomal Dominant Polycystic Kidney Disease Transplant Recipients After Kidney Transplantation: A Single-center Experience. ( 28838432 )
2017
30
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
31
Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients. ( 28228882 )
2017
32
Polycystic kidney disease: Autophagy boost to treat ADPKD? ( 28090082 )
2017
33
Multicentric papillary and chromophobe renal cell carcinomas in a patient with autosomal dominant polycystic kidney disease: Report of a rare case. ( 28937383 )
2017
34
Natural history of intracranial aneurysms in autosomal dominant polycystic kidney disease. ( 28843770 )
2017
35
Effect of renal transcatheter arterial embolization on quality of life in patients with autosomal dominant polycystic kidney disease. ( 28873973 )
2017
36
Total kidney and liver volume is a major risk factor for malnutrition in ambulatory patients with autosomal dominant polycystic kidney disease. ( 28088190 )
2017
37
Image texture features predict renal function decline in patients with autosomal dominant polycystic kidney disease. ( 28532709 )
2017
38
Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease. ( 28578020 )
2017
39
Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease. ( 28509123 )
2017
40
Genetics and Autosomal Dominant Polycystic Kidney Disease Progression. ( 28535524 )
2017
41
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
42
Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study. ( 28915698 )
2017
43
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ( 28373276 )
2017
44
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
45
Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis. ( 26950445 )
2016
46
Positive Predictive Values of International Classification of Diseases, 10th Revision Coding Algorithms to Identify Patients With Autosomal Dominant Polycystic Kidney Disease. ( 28781884 )
2016
47
Pleuritic chest pain from portal hypertensive gastropathy in ESRD patient with autosomal dominant polycystic kidney disease misdiagnosed as pericarditis. ( 27069969 )
2016
48
Tolvaptan suppresses monocyte chemotactic protein-1 excretion in autosomal-dominant polycystic kidney disease. ( 27190355 )
2016
49
Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling. ( 27056978 )
2016
50
Inhibition of histone deacetylase 6 activity reduces cyst growth in polycystic kidney disease. ( 27165822 )
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 ciliary basal body GO:0036064 9.71 DZIP1L IFT88 PKD2 PKHD1
2 cell projection GO:0042995 9.7 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKD2L1
3 motile cilium GO:0031514 9.61 IFT88 PKD1 PKD2
4 calcium channel complex GO:0034704 9.46 PKD1L1 PKD2L1
5 non-motile cilium GO:0097730 9.43 PKD1L1 PKD2 PKD2L1
6 polycystin complex GO:0002133 9.37 PKD1 PKD2
7 cation channel complex GO:0034703 9.32 PKD1L3 PKD2L1
8 ciliary membrane GO:0060170 9.26 PKD1 PKD1L1 PKD2 PKD2L1
9 cilium GO:0005929 9.17 DZIP1L IFT88 PKD1 PKD1L1 PKD2 PKD2L1

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.8 DZIP1L IFT88 NEK1 PKHD1
2 ion transport GO:0006811 9.8 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1 PKD2L2
3 single organismal cell-cell adhesion GO:0016337 9.74 PKD1 PKD1L1 PKHD1
4 kidney development GO:0001822 9.62 PKD1 PKD1L3 PKD2 PKHD1
5 spinal cord development GO:0021510 9.61 PKD1 PKD2
6 JAK-STAT cascade GO:0007259 9.6 PKD1 PKD2
7 embryonic placenta development GO:0001892 9.58 PKD1 PKD2
8 renal system development GO:0072001 9.58 PKD1 PKD2
9 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD1 PKD2
10 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
11 placenta blood vessel development GO:0060674 9.55 PKD1 PKD2
12 calcium ion transport GO:0006816 9.55 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1
13 cellular response to acidic pH GO:0071468 9.54 PKD1L3 PKD2L1
14 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
15 mesonephric tubule development GO:0072164 9.51 PKD1 PKD2
16 mesonephric duct development GO:0072177 9.48 PKD1 PKD2
17 sensory perception of sour taste GO:0050915 9.46 PKD1L3 PKD2L1
18 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
19 detection of nodal flow GO:0003127 9.4 PKD1L1 PKD2
20 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.37 PKD1L3 PKD2L1
21 detection of mechanical stimulus GO:0050982 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
22 transport GO:0006810 10.14 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 9.8 PKD1L2 PKD2 PKD2L1 PKD2L2 PKDREJ
2 carbohydrate binding GO:0030246 9.46 GANAB PKD1 PKD1L2 PKD1L3
3 cation channel activity GO:0005261 9.43 PKD1L3 PKD2L1
4 muscle alpha-actinin binding GO:0051371 9.37 PKD2 PKD2L1
5 alpha-actinin binding GO:0051393 9.32 PKD2 PKD2L1
6 cation transmembrane transporter activity GO:0008324 9.26 PKD1L3 PKD2L1
7 calcium channel activity GO:0005262 9.23 PKD1 PKD1L1 PKD1L2 PKD1L3 PKD2 PKD2L1
8 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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