PKD
MCID: PLY014
MIFTS: 71

Polycystic Kidney Disease (PKD)

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

Aliases & Classifications for Polycystic Kidney Disease

MalaCards integrated aliases for Polycystic Kidney Disease:

Name: Polycystic Kidney Disease 12 73 20 43 36 29 6 15 17
Polycystic Kidney Diseases 54 70
Pkd 20 43
Autosomal Dominant Polycystic Kidney Disease 20
Polycystic Kidney, Autosomal Dominant 70
Kidney Disease, Polycystic 39
Polycystic Renal Disease 43
Polycystic Kidneys 20
Adpkd 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0080322
KEGG 36 H00542
ICD10 32 Q61.3
UMLS 70 C0022680 C0085413

Summaries for Polycystic Kidney Disease

MedlinePlus Genetics : 43 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.Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

MalaCards based summary : Polycystic Kidney Disease, also known as polycystic kidney diseases, is related to polycystic kidney disease 1 with or without polycystic liver disease and autosomal dominant polycystic kidney disease. An important gene associated with Polycystic Kidney Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Angiotensin II and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are cardiovascular system and craniofacial

Disease Ontology : 12 A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.

GARD : 20 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.

KEGG : 36 Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts.

Wikipedia : 73 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 4
Autosomal Dominant Polycystic Kidney Disease

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

(show top 50) (show all 769)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 1 with or without polycystic liver disease 34.5 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1
2 autosomal dominant polycystic kidney disease 34.5 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1
3 polycystic kidney disease 4 with or without polycystic liver disease 34.4 PKHD1 PKD2 PKD1 NPHP3 MIR15A IFT88
4 polycystic kidney disease 2 with or without polycystic liver disease 34.2 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1
5 kidney disease 33.9 PKHD1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1
6 cystic kidney disease 33.4 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 NPHP3
7 polycystic liver disease 33.2 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 MIR15A
8 caroli disease 33.1 PKHD1 PKD2 PKD1 NPHP3
9 nephronophthisis 33.0 PKHD1 PKD2 PKD1 NPHP3-ACAD11 NPHP3 MKKS
10 congenital hepatic fibrosis 32.9 PKHD1 PKD1 CC2D2A
11 joubert syndrome 1 32.9 PKHD1 PKD2 PKD1L1 PKD1 NPHP3 IFT88
12 polycystic liver disease 1 with or without kidney cysts 32.8 PKHD1 PKD2 PKD1
13 orofaciodigital syndrome i 32.6 IFT88 CEP290
14 nephronophthisis 14 32.6 NPHP3 CEP290 CC2D2A
15 orthostatic intolerance 31.7 PKHD1 PKD2 PKD1
16 bardet-biedl syndrome 31.5 PKHD1 PKD2 PKD1 NPHP3 MKKS IFT88
17 retinitis pigmentosa 31.2 PKHD1 PKD2 PKD1 NPHP3 MKKS IFT88
18 meckel syndrome, type 3 31.1 NPHP3 IFT88 CEP290 CC2D2A
19 kartagener syndrome 31.1 PKHD1 PKD2 PKD1L1 PKD1 NPHP3 IFT88
20 multicystic dysplastic kidney 31.0 PKD2 PKD1 MKKS
21 meckel syndrome, type 1 31.0 PKHD1 PKD2 PKD1 NPHP3 MKKS IFT88
22 nephronophthisis 2 31.0 PKHD1 PKD2 PKD1 NPHP3 IFT88 CEP290
23 primary ciliary dyskinesia 31.0 PKD2 PKD1L1 PKD1 NPHP3 IFT88 CEP290
24 bardet-biedl syndrome 8 30.8 MKKS IFT88 CEP290
25 bardet-biedl syndrome 3 30.8 MKKS IFT88 CEP290
26 encephalocele 30.5 CEP290 CC2D2A
27 polycystic kidney disease 3 with or without polycystic liver disease 11.9
28 polycystic kidney disease 5 11.8
29 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.7
30 polycystic kidney disease 6 with or without polycystic liver disease 11.7
31 polycystic kidney disease 4 11.7
32 gillessen-kaesbach-nishimura syndrome 11.5
33 diabetes mellitus, neonatal, with congenital hypothyroidism 11.4
34 tubulointerstitial kidney disease, autosomal dominant, 2 11.3
35 episodic kinesigenic dyskinesia 1 11.3
36 orofaciodigital syndrome 11.3
37 potter's syndrome 11.2
38 convulsions, familial infantile, with paroxysmal choreoathetosis 11.2
39 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.2
40 end stage renal disease 11.1
41 acrorenal syndrome 11.0
42 hypertelorism, teebi type 11.0
43 campomelia, cumming type 11.0
44 bardet-biedl syndrome 12 11.0
45 meckel syndrome 13 11.0
46 aneurysm 10.9
47 pyruvate kinase deficiency of red cells 10.9
48 paroxysmal exertion-induced dyskinesia 10.9
49 paroxysmal dyskinesia 10.9
50 proteinuria, chronic benign 10.9

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


Acute Cystitis Acute Kidney Failure
Chronic Kidney Disease Deficiency Anemia
Heart Disease Hypertension, Essential
Kidney Disease Polycystic Liver 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 ANO5 CC2D2A CEP290 HDAC8 IFT88 MKKS
2 craniofacial MP:0005382 9.76 ANO5 CC2D2A CEP290 HDAC8 IFT88 MKKS
3 renal/urinary system MP:0005367 9.56 CC2D2A CEP290 IFT88 NPHP3 PKD1 PKD1L1
4 respiratory system MP:0005388 9.23 CC2D2A CEP290 IFT88 MKKS PKD1 PKD1L1

Drugs & Therapeutics for Polycystic Kidney Disease

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

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
3
Pravastatin Approved Phase 4 81093-37-0 54687
4
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
5
Cilnidipine Investigational Phase 4 132203-70-4 5282138
6
Candesartan Experimental Phase 4 139481-59-7 2541
7 Angiotensin-Converting Enzyme Inhibitors Phase 4
8 Angiotensin II Type 1 Receptor Blockers Phase 4
9 Angiotensin Receptor Antagonists Phase 4
10 Giapreza Phase 4
11 Angiotensinogen Phase 4
12 calcium channel blockers Phase 4
13 Calcium, Dietary Phase 4
14 Adrenergic alpha-Antagonists Phase 4
15 Adrenergic Antagonists Phase 4
16 Adrenergic Agents Phase 4
17 Antimetabolites Phase 4
18 Anticholesteremic Agents Phase 4
19 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
20 Hypolipidemic Agents Phase 4
21 Lipid Regulating Agents Phase 4
22 Antirheumatic Agents Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Anti-Inflammatory Agents, Non-Steroidal Phase 4
26 Analgesics Phase 4
27
Calcium Nutraceutical Phase 4 7440-70-2 271
28
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
29
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
30
Metoprolol Approved, Investigational Phase 3 51384-51-1, 37350-58-6 4171
31
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
32
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
33
Hydralazine Approved Phase 3 86-54-4 3637
34
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
35
Clonidine Approved Phase 3 4205-90-7 2803
36
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
37
lanreotide Approved Phase 3 108736-35-2
38
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
39
Lactitol Approved, Investigational Phase 3 585-86-4 157355
40
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
41
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
42
Tolvaptan Approved Phase 3 150683-30-0 216237
43
Metformin Approved Phase 3 657-24-9 14219 4091
44
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
45
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
46
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
47
tannic acid Approved Phase 2, Phase 3 1401-55-4
48
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
49
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
50 Triptolide Investigational Phase 3 38748-32-2

Interventional clinical trials:

(show top 50) (show all 146)
# Name Status NCT ID Phase Drugs
1 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Unknown status NCT03596957 Phase 4 Tolvaptan
2 Comparison Between ARB and ARB Plus CCB on Incidence of Renal and Cardiovascular Events in Hypertensive ADPKD Patients Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
3 A Multicenter, Randomized, Placebo-controlled, Double-blind Study on the Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease (ESRD) in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00414440 Phase 4 Placebo;Everolimus
4 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
5 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Active, not recruiting NCT03949894 Phase 4 Tolvaptan
6 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Active, not recruiting NCT02494141 Phase 4 Curcumin
7 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
8 The DIPAK 1 Study: A Randomised, Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in ADPKD Unknown status NCT01616927 Phase 3 Lanreotide
9 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
10 An Open-label, Prospective Clinical Trial to Evaluate the Effectiveness and Safety of Sirolimus to Reduce Cyst Growth in ADPKD Patients With Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
11 Open-Label Extension of the LOCKCYST Trial, LOCKCYST: Long Acting Lnareotide as as Volume Reducing Treatment of Polycystic Livers Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
12 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
13 HALT Progression of Polycystic Kidney Disease Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
14 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
15 A Multicenter, Open-label Extension Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3 tolvaptan
16 Multi-center, Open-label, Extension Study to Evaluate the Long-term Efficacy and Safety of Oral Tolvaptan Tablet Regimens in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01214421 Phase 3 Tolvaptan
17 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
18 Effect of a Long-acting Somatostatin on Disease Progression in Nephropathy Due to Autosomal Dominant Polycystic Kidney Disease: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
19 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
20 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
21 A Phase 3b, Multi-center, Open-label Trial to Evaluate the Long Term Safety of Immediate-release Tolvaptan (OPC-41061, 30 mg to 120 mg/Day, Split Dose) in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan
22 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
23 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED CLINICAL TRIAL TO ASSESS THE EFFECTS OF LONG-ACTING SOMATOSTATIN (OCTREOTIDE LAR) THERAPY ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND MODERATE TO SEVERE RENAL INSUFFICIENCY Completed NCT01377246 Phase 3 Octreotide-LAR
24 An Open-labelled Multicenter Randomized Study on the Efficacy of Everolimus in Reducing Total Native Kidney Volume in Kidney Transplanted Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
25 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
26 EFFECT OF SOMATOSTTIN ON EARLY DIASTOLIC LEFT VENTRICULAR FUNCTION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: A MATCHED-COHORT, SPECKLE-TRACKING ECHOCARDIOGRAPHIC STUDY Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
27 A Phase 3b, Multi-center, Randomized-withdrawal, Placebo-controlled, Double-blind, Parallel-group Trial to Compare the Efficacy and Safety of Tolvaptan (45 to 120 mg/Day, Split-dose) 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
28 A Phase 3, Multi-center, Double-blind, Placebo-controlled, Parallel-arm Trial to Determine Long-term Safety and Efficacy of Oral Tolvaptan Tablets Regimens in Adult Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT00428948 Phase 3 Tolvaptan;Placebo
29 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
30 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
31 Pilot Study Of Long-Acting Octreotide (Octreotide LAR® Depot) In The Treatment Of Patients With Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
32 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
33 Multicenter, Randomized, Double-blind, Placebo-controlled Two Stage Study to Characterize the Efficacy, Safety, Tolerability and Pharmacokinetics of GZ/SAR402671 in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT03523728 Phase 2, Phase 3 Venglustat GZ402671;Placebo
34 Multicenter, Open-label, Extension Study to Characterize the Long-term Efficacy and Safety of Early Versus Delayed Treatment With Venglustat (GZ/SAR402671) in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT04705051 Phase 3 Venglustat GZ402671
35 An Open-Label Study of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Who Previously Experienced Abnormal Liver Chemistry Test Results While Receiving Tolvaptan: The ALERT Study Recruiting NCT04152837 Phase 3 Lixivaptan
36 A Phase 3 Trial of Bardoxolone Methyl in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
37 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
38 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT02964273 Phase 3 Phase A Tolvaptan;Placebo Phase A;Phase B Tolvaptan
39 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
40 A 52-Week, Phase 3, Double-blind, Placebo-controlled, Randomized Study of the Efficacy and Safety of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Not yet recruiting NCT04064346 Phase 3 Lixivaptan;Placebo
41 A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 12 Weeks of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Not yet recruiting NCT04786574 Phase 3 Tolvaptan (OPC-41061)
42 A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 18 Years of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Not yet recruiting NCT04782258 Phase 3 Tolvaptan Suspension;Tolvaptan Tablets
43 EFFECTS OF SIROLIMUS ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND SEVERE RENAL INSUFFICIENCY Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
44 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
45 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
46 A Randomized, Open-label Study Investigating the Effect of Bilateral Renal Artery Sympathetic Denervation by Catheter-based Radiofrequency Ablation on Blood Pressure and Disease Progression in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT01932450 Phase 2 antihypertensive drugs
47 Phase II Study for the Second-Line Treatment of Hypertension in Patients With Autosomal Dominant Polycystic Kidney Disease; ACEI vs. CCB Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
48 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Completed NCT02656017 Phase 2 Metformin
49 A Phase 1b/2a, Safety, Pharmacokinetic and Dose-Escalation Study of KD019 ((Tesevatinib) in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)
50 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Of The Safety, Clinical Activity And Pharmacokinetics Of Bosutinib (PF-05208763) Versus Placebo In Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo

Search NIH Clinical Center for Polycystic Kidney Disease

Genetic Tests for Polycystic Kidney Disease

Genetic tests related to Polycystic Kidney Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 29

Anatomical Context for Polycystic Kidney Disease

MalaCards organs/tissues related to Polycystic Kidney Disease:

40
Kidney, Liver, Endothelial, Heart, Bone, Smooth Muscle, Lung

Publications for Polycystic Kidney Disease

Articles related to Polycystic Kidney Disease:

(show top 50) (show all 7827)
# Title Authors PMID Year
1
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. 6
26862157 2016
2
MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation. 47 61
19821056 2010
3
MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. 47 61
18949056 2008
4
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 6
17705300 2008
5
Renal cystic diseases in children: new concepts. 54 61
20432012 2010
6
Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes. 54 61
20053665 2010
7
Of mice and men: therapeutic mTOR inhibition in polycystic kidney disease. 54 61
20133481 2010
8
Regulation of ciliary trafficking of polycystin-2 and the pathogenesis of autosomal dominant polycystic kidney disease. 54 61
20197605 2010
9
ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. 61 54
19766642 2010
10
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. 61 54
20460933 2010
11
Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation. 61 54
20096584 2010
12
A mitotic transcriptional switch in polycystic kidney disease. 54 61
19966811 2010
13
Might there be an association between polycystic kidney disease and noncompaction of the ventricular myocardium? 61 54
19762607 2009
14
Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains. 61 54
19759016 2009
15
Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1. 61 54
19692352 2009
16
Polycystin-1 and -2 dosage regulates pressure sensing. 61 54
19879844 2009
17
Nanomolar potency pyrimido-pyrrolo-quinoxalinedione CFTR inhibitor reduces cyst size in a polycystic kidney disease model. 54 61
19785436 2009
18
Inhibition of PKHD1 may cause S-phase entry via mTOR signaling pathway. 54 61
19524688 2009
19
Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease. 54 61
19397527 2009
20
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 61 54
19346236 2009
21
Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas. 61 54
19292732 2009
22
Deficiency of polycystic kidney disease-1 gene (PKD1) expression increases A(3) adenosine receptors in human renal cells: implications for cAMP-dependent signalling and proliferation of PKD1-mutated cystic cells. 61 54
19285554 2009
23
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. 54 61
19321600 2009
24
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 54 61
19165178 2009
25
Detecting the surface localization and cytoplasmic cleavage of membrane-bound proteins. 54 61
20362093 2009
26
Polycystins and primary cilia: primers for cell cycle progression. 61 54
19572811 2009
27
[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease]. 61 54
19936001 2009
28
Retinoic acid-dependent activation of the polycystic kidney disease-1 (PKD1) promoter. 61 54
18922886 2008
29
Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis. 54 61
18694932 2008
30
Chromosomal evolution of the PKD1 gene family in primates. 61 54
18822117 2008
31
The mTOR pathway and its role in human genetic diseases. 61 54
18598780 2008
32
Alpha-aminoazaheterocyclic-methylglyoxal adducts do not inhibit cystic fibrosis transmembrane conductance regulator chloride channel activity. 61 54
18272811 2008
33
Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. 61 54
18175055 2008
34
Calcium, cyclic AMP, and MAP kinases: dysregulation in polycystic kidney disease. 61 54
18195694 2008
35
Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. 61 54
17980165 2008
36
Haemoglobin and erythropoietin levels in polycystic kidney disease. 61 54
17951311 2008
37
Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion. 61 54
18037103 2007
38
PKD1 inhibits cancer cells migration and invasion via Wnt signaling pathway in vitro. 61 54
17437318 2007
39
Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1. 54 61
17715262 2007
40
Regulation of the epithelial sodium channel by phosphatidylinositides: experiments, implications, and speculations. 54 61
17605040 2007
41
Serum erythropoietin concentrations and responses to anaemia in patients with or without chronic kidney disease. 61 54
17556407 2007
42
Rational proteomics of PKD1. I. Modeling the three dimensional structure and ligand specificity of the C_lectin binding domain of Polycystin-1. 61 54
17437137 2007
43
PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease. 54 61
17370309 2007
44
The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family. 61 54
17629917 2007
45
Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. 61 54
17525154 2007
46
Wnt signaling in polycystic kidney disease. 54 61
17429050 2007
47
Involvement of hypoxia-inducible transcription factors in polycystic kidney disease. 54 61
17322369 2007
48
TRPP2 channel regulation. 61 54
17217069 2007
49
Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease. 61 54
17160262 2006
50
Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C. 61 54
16956880 2006

Variations for Polycystic Kidney Disease

ClinVar genetic disease variations for Polycystic Kidney Disease:

6 (show top 50) (show all 748)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2 NM_000297.4(PKD2):c.815_816CT[1] (p.Leu273fs) Microsatellite Pathogenic 374198 rs1057518969 GRCh37: 4:88957477-88957478
GRCh38: 4:88036325-88036326
2 PKD2 NM_000297.4(PKD2):c.145C>T (p.Gln49Ter) SNV Pathogenic 374110 rs1057518906 GRCh37: 4:88929030-88929030
GRCh38: 4:88007878-88007878
3 PKD1 NM_001009944.3(PKD1):c.7818dup (p.His2607fs) Duplication Pathogenic 427767 rs1555452653 GRCh37: 16:2155910-2155911
GRCh38: 16:2105909-2105910
4 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter) SNV Pathogenic 560353 rs1567155145 GRCh37: 16:2142535-2142535
GRCh38: 16:2092534-2092534
5 PKD1 NM_001009944.3(PKD1):c.2986-1G>A SNV Pathogenic 977303 GRCh37: 16:2162965-2162965
GRCh38: 16:2112964-2112964
6 PKD1 NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs) Insertion Pathogenic 977304 GRCh37: 16:2185495-2185496
GRCh38: 16:2135494-2135495
7 PKD1 NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs) Deletion Pathogenic 977305 GRCh37: 16:2164642-2164648
GRCh38: 16:2114641-2114647
8 CC2D2A NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) SNV Pathogenic 978623 GRCh37: 4:15538686-15538686
GRCh38: 4:15537063-15537063
9 CC2D2A NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter) SNV Pathogenic 978624 GRCh37: 4:15569304-15569304
GRCh38: 4:15567681-15567681
10 CEP290 NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) SNV Pathogenic 978630 GRCh37: 12:88472904-88472904
GRCh38: 12:88079127-88079127
11 PKD1 NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) SNV Pathogenic 523384 rs777269070 GRCh37: 16:2140778-2140778
GRCh38: 16:2090777-2090777
12 PKD1 NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) SNV Pathogenic 373937 rs1057518783 GRCh37: 16:2160082-2160082
GRCh38: 16:2110081-2110081
13 PKD1 NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) Deletion Pathogenic 433992 rs1555451093 GRCh37: 16:2153513-2153513
GRCh38: 16:2103512-2103512
14 MIR1225 , PKD1 NM_001009944.3(PKD1):c.12445-2A>C SNV Pathogenic 434008 rs1555444334 GRCh37: 16:2140197-2140197
GRCh38: 16:2090196-2090196
15 PKD1 NM_001009944.3(PKD1):c.4461del (p.Ser1488fs) Deletion Pathogenic 433962 rs1555455998 GRCh37: 16:2160707-2160707
GRCh38: 16:2110706-2110706
16 PKD1 NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) Deletion Pathogenic 434009 rs1555444225 GRCh37: 16:2140126-2140126
GRCh38: 16:2090125-2090125
17 PKD1 NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) Deletion Pathogenic 433978 rs1555453360 GRCh37: 16:2156841-2156841
GRCh38: 16:2106840-2106840
18 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) SNV Pathogenic 434003 rs1325300747 GRCh37: 16:2141858-2141858
GRCh38: 16:2091857-2091857
19 PKD1 NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) SNV Pathogenic 433977 rs752114168 GRCh37: 16:2156878-2156878
GRCh38: 16:2106877-2106877
20 PKD1 NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) SNV Pathogenic 433984 rs1222094213 GRCh37: 16:2154565-2154565
GRCh38: 16:2104564-2104564
21 PKD1 NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer) Indel Pathogenic 433996 rs1555450424 GRCh37: 16:2152507-2152509
GRCh38: 16:2102506-2102508
22 PKD1 NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter) SNV Pathogenic 433971 rs1555454512 GRCh37: 16:2158861-2158861
GRCh38: 16:2108860-2108860
23 PKD2 NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs) Deletion Pathogenic 997110 GRCh37: 4:88979232-88979235
GRCh38: 4:88058080-88058083
24 PKD2 NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter) SNV Pathogenic 997111 GRCh37: 4:88964466-88964466
GRCh38: 4:88043314-88043314
25 PKD2 NM_000297.4(PKD2):c.848_849dup (p.Glu284fs) Microsatellite Pathogenic 997112 GRCh37: 4:88959404-88959405
GRCh38: 4:88038252-88038253
26 PKD1 NM_001009944.3(PKD1):c.304A>T (p.Lys102Ter) SNV Pathogenic 997113 GRCh37: 16:2169170-2169170
GRCh38: 16:2119169-2119169
27 PKD2 NM_000297.4(PKD2):c.1716+2T>A SNV Pathogenic 997114 GRCh37: 4:88973312-88973312
GRCh38: 4:88052160-88052160
28 PKD1 NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs) Deletion Pathogenic 434005 rs1555445192 GRCh37: 16:2141078-2141090
GRCh38: 16:2091077-2091089
29 PKD1 NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs) Deletion Pathogenic 997105 GRCh37: 16:2158959-2158971
GRCh38: 16:2108958-2108970
30 PKD2 NM_000297.4(PKD2):c.662del (p.Leu221fs) Deletion Pathogenic 997106 GRCh37: 4:88940673-88940673
GRCh38: 4:88019521-88019521
31 PKD2 NM_000297.4(PKD2):c.1868_1872del (p.Val623fs) Deletion Pathogenic 997108 GRCh37: 4:88977389-88977393
GRCh38: 4:88056237-88056241
32 PKD1 NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs) Microsatellite Pathogenic 997124 GRCh37: 16:2159020-2159021
GRCh38: 16:2109019-2109020
33 PKD1 NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) Microsatellite Pathogenic 997125 GRCh37: 16:2161126-2161127
GRCh38: 16:2111125-2111126
34 PKD1 NM_001009944.3(PKD1):c.7864-1G>T SNV Pathogenic 997134 GRCh37: 16:2155476-2155476
GRCh38: 16:2105475-2105475
35 PKD1 NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter) SNV Pathogenic 997135 GRCh37: 16:2160971-2160971
GRCh38: 16:2110970-2110970
36 PKD1 NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs) Insertion Pathogenic 997136 GRCh37: 16:2161595-2161596
GRCh38: 16:2111594-2111595
37 PKD1 NM_001009944.3(PKD1):c.1849+1G>T SNV Pathogenic 997137 GRCh37: 16:2165992-2165992
GRCh38: 16:2115991-2115991
38 PKD2 NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) SNV Pathogenic 997138 GRCh37: 4:88973203-88973203
GRCh38: 4:88052051-88052051
39 PKD2 NM_000297.4(PKD2):c.423dup (p.Gly142fs) Duplication Pathogenic 997139 GRCh37: 4:88929306-88929307
GRCh38: 4:88008154-88008155
40 PKD1 NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter) SNV Pathogenic 997140 GRCh37: 16:2164364-2164364
GRCh38: 16:2114363-2114363
41 PKD1 NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter) SNV Pathogenic 997169 GRCh37: 16:2140552-2140552
GRCh38: 16:2090551-2090551
42 PKD1 NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) SNV Pathogenic 997170 GRCh37: 16:2159245-2159245
GRCh38: 16:2109244-2109244
43 PKD2 NM_000297.4(PKD2):c.709+1G>A SNV Pathogenic 92797 rs398123308 GRCh37: 4:88940724-88940724
GRCh38: 4:88019572-88019572
44 PKD1 NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) SNV Pathogenic 972875 GRCh37: 16:2162434-2162434
GRCh38: 16:2112433-2112433
45 PKD2 NM_000297.4(PKD2):c.1094+1G>C SNV Pathogenic 997171 GRCh37: 4:88959654-88959654
GRCh38: 4:88038502-88038502
46 PKD1 NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) SNV Pathogenic 997172 GRCh37: 16:2153588-2153588
GRCh38: 16:2103587-2103587
47 PKD2 NM_000297.4(PKD2):c.1322dup (p.Leu441fs) Duplication Pathogenic 997173 GRCh37: 4:88967794-88967795
GRCh38: 4:88046642-88046643
48 PKD1 NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) SNV Pathogenic 997174 GRCh37: 16:2158762-2158762
GRCh38: 16:2108761-2108761
49 PKD1 NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) SNV Pathogenic 997175 GRCh37: 16:2141004-2141004
GRCh38: 16:2091003-2091003
50 PKD1 NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) SNV Pathogenic 586237 rs1567166045 GRCh37: 16:2147952-2147952
GRCh38: 16:2097951-2097951

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 399)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ALDOB aldolase, fructose-bisphosphate B 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 Kidney - 8.41 0.000
6 NAT8 N-acetyltransferase 8 (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 microfibril associated protein 5 Kidney + 7.82 0.000
12 DIO1 iodothyronine deiodinase 1 Kidney - 7.73 0.000
13 MIOX myo-inositol oxygenase Kidney - 7.62 0.000
14 DDC dopa 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 member 3 Kidney - 7.56 0.000
17 SLC12A1 solute carrier family 12 member 1 Kidney - 7.44 0.000
18 SLC7A13 solute carrier family 7 member 13 Kidney - 7.40 0.000
19 DPYS dihydropyrimidinase Kidney - 7.33 0.000
20 SLC13A1 solute carrier family 13 member 1 Kidney - 7.30 0.000
21 BBOX1 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 member 9 Kidney - 7.23 0.000
24 GBA3 glucosylceramidase beta 3 (gene/pseudogene) Kidney - 7.18 0.000
25 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 7.17 0.000
26 SLC27A2 solute carrier family 27 member 2 Kidney - 7.12 0.000
27 CLTRN collectrin, amino acid transport regulator Kidney - 7.11 0.000
28 HAO2 hydroxyacid oxidase 2 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 Kidney - 6.88 0.000
33 MME membrane metalloendopeptidase 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 family 3 member A1 Kidney - 6.73 0.000
38 GDA guanine deaminase Kidney - 6.68 0.000
39 AFM afamin Kidney - 6.67 0.000
40 G6PC1 glucose-6-phosphatase catalytic subunit 1 Kidney - 6.57 0.000
41 XIST X inactive specific transcript 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 member 11 Kidney - 6.41 0.000
47 CTHRC1 collagen triple helix repeat containing 1 Kidney + 6.41 0.000
48 FMO1 flavin containing dimethylaniline monoxygenase 1 Kidney - 6.35 0.000
49 TMEM174 transmembrane protein 174 Kidney - 6.34 0.000
50 SLC22A7 solute carrier family 22 member 7 Kidney - 6.32 0.000
Search GEO for disease gene expression data for Polycystic Kidney Disease.

Pathways for Polycystic Kidney Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 PKD2 PKD1 NPHP3 MKKS IFT88 CEP290
2
Show member pathways
11.29 PKD2 PKD1 NPHP3 MKKS

GO Terms for Polycystic Kidney Disease

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.81 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 NPHP3
2 motile cilium GO:0031514 9.76 PKD2 PKD1 MKKS IFT88
3 ciliary basal body GO:0036064 9.72 PKHD1 PKD2 MKKS IFT88 CEP290
4 ciliary membrane GO:0060170 9.67 PKD2L1 PKD2 PKD1L1 PKD1
5 calcium channel complex GO:0034704 9.61 PKD2L1 PKD1L1 PKD1
6 MKS complex GO:0036038 9.48 CEP290 CC2D2A
7 cation channel complex GO:0034703 9.43 PKD2L1 PKD2 PKD1
8 polycystin complex GO:0002133 9.4 PKD2 PKD1
9 cilium GO:0005929 9.28 PKHD1 PKD2L1 PKD2 PKD1L1 PKD1 NPHP3
10 non-motile cilium GO:0097730 9.26 PKD2L1 PKD2 PKD1L1 IFT88

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1
2 heart development GO:0007507 9.87 PKD2 PKD1 MKKS CC2D2A
3 calcium ion transport GO:0006816 9.76 PKD2L1 PKD2 PKD1L1 PKD1
4 cilium assembly GO:0060271 9.73 PKHD1 NPHP3 MKKS IFT88 CEP290 CC2D2A
5 heart looping GO:0001947 9.72 PKD2 NPHP3 MKKS
6 non-motile cilium assembly GO:1905515 9.69 MKKS IFT88 CC2D2A
7 kidney development GO:0001822 9.63 PKHD1 PKD2 PKD1 NPHP3 IFT88 CC2D2A
8 determination of left/right symmetry GO:0007368 9.62 PKD2 NPHP3 MKKS CC2D2A
9 protein tetramerization GO:0051262 9.61 PKD2L1 PKD2
10 embryonic placenta development GO:0001892 9.61 PKD2 PKD1
11 inorganic cation transmembrane transport GO:0098662 9.59 PKD2L1 PKD2
12 protein heterotetramerization GO:0051290 9.58 PKD2 PKD1
13 placenta blood vessel development GO:0060674 9.58 PKD2 PKD1
14 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD2 PKD1
15 determination of liver left/right asymmetry GO:0071910 9.54 PKD2 NPHP3
16 mesonephric tubule development GO:0072164 9.52 PKD2 PKD1
17 metanephric ascending thin limb development GO:0072218 9.49 PKD2 PKD1
18 mesonephric duct development GO:0072177 9.48 PKD2 PKD1
19 detection of nodal flow GO:0003127 9.43 PKD2 PKD1L1
20 calcium ion transmembrane transport GO:0070588 9.43 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1 PKD1
21 cell-cell signaling by wnt GO:0198738 9.4 PKD2 PKD1
22 convergent extension involved in gastrulation GO:0060027 9.37 NPHP3 MKKS
23 detection of mechanical stimulus GO:0050982 9.1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1 PKD1

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

# Name GO ID Score Top Affiliating Genes
1 alpha-actinin binding GO:0051393 9.26 PKD2L1 PKD2
2 muscle alpha-actinin binding GO:0051371 9.16 PKD2L1 PKD2
3 cation channel activity GO:0005261 9.13 PKD2L1 PKD2 PKD1
4 calcium channel activity GO:0005262 9.1 PKDREJ PKD2L2 PKD2L1 PKD2 PKD1L1 PKD1

Sources for Polycystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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