ADPKD
MCID: ATS347
MIFTS: 68

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Autosomal Dominant Polycystic Kidney Disease

MalaCards integrated aliases for Autosomal Dominant Polycystic Kidney Disease:

Name: Autosomal Dominant Polycystic Kidney Disease 11 19 58 28 5 14 16 75 33
Polycystic Kidney Disease, Adult Type 19 75 28 5
Adpkd 24 19 58
Polycystic Kidney, Autosomal Dominant 71 31
Polycystic Kidney Diseases 43 71
Kidney, Polycystic, Disease, Autosomal Dominant 38
Polycystic Kidney Disease, Autosomal Dominant 24
Apckd - [autosomal Polycystic Kidney Disease] 33
Polycystic Kidney and Hepatic Disease 1 11
Adult Polycystic Kidney Disease 33
Polycystic Kidney, Adult Type 33
Congenital Biliary Ectasias 11

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-5/10000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Childhood 58

GeneReviews:

24
Penetrance Penetrance in adpkd is age and genotype dependent. the penetrance of multiple bilateral kidney cysts in older adults is close to 100%. however, because the disease is progressive, few cysts may be evident during childhood or young adulthood, especially in individuals with nontruncating pkd1 pathogenic variants, pathogenic variants in pkd2, or a pathogenic variant in another adpkd-related gene.

Classifications:

Orphanet: 58  
Rare renal diseases
Rare infertility disorders


External Ids:

Disease Ontology 11 DOID:898
ICD9CM 34 753.12
MeSH 43 D007690
NCIt 49 C75464
SNOMED-CT 68 204955006
ICD10 31 Q61.2 Q61.3
ICD10 via Orphanet 32 Q61.2
Orphanet 58 ORPHA730
ICD11 33 91220434
UMLS 71 C0022680 C0085413

Summaries for Autosomal Dominant Polycystic Kidney Disease

GARD: 19 Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. ADPKD is a progressive disease and symptoms tend to get worse over time. The most common symptoms are kidney cysts, pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, and brain aneurysms. ADPKD is most often caused by changes in the PKD1 and PKD2 genes, and less often by changes in the GANAB and DNAJB11 genes. It is inherited in a dominant pattern. ADPKD is the most common inherited disorder of the kidneys.

MalaCards based summary: Autosomal Dominant Polycystic Kidney Disease, also known as polycystic kidney disease, adult type, is related to polycystic kidney disease and polycystic kidney disease 1 with or without polycystic liver disease. An important gene associated with Autosomal Dominant Polycystic Kidney Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are MicroRNAs in cardiomyocyte hypertrophy and mTOR Signaling. The drugs Candesartan cilexetil and Curcumin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are renal cyst and decreased glomerular filtration rate

Orphanet: 58 A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).

Disease Ontology: 11 A polycystic kidney disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.

Wikipedia: 75 Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening... more...

GeneReviews: NBK1246

Related Diseases for Autosomal Dominant Polycystic Kidney Disease

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 5 Polycystic Kidney Disease 7
Polycystic Kidney Disease 4 Autosomal Dominant Polycystic Kidney Disease

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

(show top 50) (show all 586)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 33.9 TSC2 TNF PRKD1 PKHD1 PKD2 PKD1P1
2 polycystic kidney disease 1 with or without polycystic liver disease 33.9 TSC2 PRKD1 PKHD1 PKD2 PKD1P1 PKD1-AS1
3 polycystic kidney disease 2 with or without polycystic liver disease 33.7 PRKD1 PKHD1 PKD2 PKD1 HNF1B HAX1
4 kidney disease 33.6 TSC2 TNF PKHD1 PKD2 PKD1P1 PKD1
5 polycystic liver disease 1 with or without kidney cysts 33.1 TSC2 PKHD1 PKD2 PKD1 HNF1B
6 polycystic liver disease 33.1 TSC2 PRKD1 PKHD1 PKD2 PKD1 LRP5
7 cystic kidney disease 33.0 TSC2 PRKD1 PKHD1 PKD2 PKD1 IFT140
8 polycystic kidney disease, infantile severe, with tuberous sclerosis 32.9 TSC2 PKD1
9 polycystic kidney disease 3 with or without polycystic liver disease 32.8 PKD2 PKD1 GANAB
10 end stage renal disease 32.8 PKD2 PKD1 GANAB DNAJB11
11 caroli disease 32.8 PRKD1 PKHD1 PKD2 PKD1 HNF1B
12 chronic kidney disease 32.4 TNF PKD2 PKD1 MXRA5 HNF1B
13 polycystic kidney disease 4 with or without polycystic liver disease 32.2 TSC2 PRKD1 PKHD1 PKD2 PKD1 IFT140
14 liver disease 31.9 TNF PKHD1 PKD2 PKD1 LRP5 GANAB
15 congenital hepatic fibrosis 31.7 PKHD1 PKD2 PKD1
16 orthostatic intolerance 31.5 PKHD1 PKD2 PKD1
17 renal hypodysplasia/aplasia 1 31.2 PKHD1 HNF1B BICC1
18 oligohydramnios 31.2 PKHD1 PKD1 HNF1B
19 nephronophthisis 31.2 PRKD1 PKHD1 PKD2 PKD1 IFT140 HNF1B
20 chromosome 2q35 duplication syndrome 30.9 PKD2 PKD1 LRP5 IFT140
21 meckel syndrome, type 1 30.8 PKHD1 PKD2 PKD1 IFT140
22 multicystic dysplastic kidney 30.7 PKD2 PKD1
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 11.8
24 potter's syndrome 11.2
25 nephrolithiasis, calcium oxalate 11.0
26 urinary tract infection 11.0
27 nephrolithiasis 10.9
28 renal cell carcinoma, nonpapillary 10.8
29 vascular disease 10.8
30 hypertension, essential 10.8
31 collecting duct carcinoma 10.8
32 aortic dissection 10.8
33 aortic aneurysm 10.7
34 cerebral aneurysms 10.7
35 enterocele 10.7
36 pyelonephritis 10.7
37 nephrotic syndrome 10.7
38 glomerulonephritis 10.7
39 tuberous sclerosis 2 10.7
40 hyperuricemia 10.7
41 arachnoid cysts, intracranial 10.7
42 peritonitis 10.7
43 portal hypertension 10.6
44 tuberous sclerosis 1 10.6
45 muscle hypertrophy 10.6
46 tuberous sclerosis 10.6
47 aortic aneurysm, familial abdominal, 1 10.6
48 uremia 10.6
49 hemorrhage, intracerebral 10.6
50 renal hypertension 10.6

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



Diseases related to Autosomal Dominant Polycystic Kidney Disease

Symptoms & Phenotypes for Autosomal Dominant Polycystic Kidney Disease

Human phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal cyst 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000107
2 decreased glomerular filtration rate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012213
3 hepatic cysts 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001407
4 elevated circulating creatinine concentration 30 Hallmark (90%) HP:0003259
5 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
6 hematuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000790
7 stage 5 chronic kidney disease 58 30 Frequent (33%) Frequent (79-30%)
HP:0003774
8 pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0012531
9 albuminuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0012592
10 abnormal urinary electrolyte concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0012591
11 mitral valve prolapse 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001634
12 nephrolithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000787
13 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000010
14 enlarged kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000105
15 pancreatic cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001737
16 aortic root aneurysm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002616
17 pyelonephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012330
18 polycystic liver disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006557
19 arachnoid cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100702
20 dilatation of the cerebral artery 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004944
21 reduced sperm motility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012207
22 pituitary growth hormone cell adenoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011760
23 renal insufficiency 58 Very frequent (99-80%)
24 chronic kidney disease 58 Frequent (79-30%)
25 elevated serum creatinine 58 Very frequent (99-80%)
26 abnormal systemic arterial morphology 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Autosomal Dominant Polycystic Kidney Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 10.02 BICC1 HNF1B LRP5 PDK2 PKD1 PKD2
2 endocrine/exocrine gland MP:0005379 10.02 BICC1 HAX1 HNF1B LRP5 PDK2 PKD1
3 renal/urinary system MP:0005367 10.01 BICC1 HNF1B IFT140 PDK2 PKD1 PKD2
4 embryo MP:0005380 9.86 BICC1 HNF1B IFT140 LRP5 PKD1 PKD2
5 digestive/alimentary MP:0005381 9.7 BICC1 HNF1B IFT140 PKD1 PKD2 PKHD1
6 cardiovascular system MP:0005385 9.65 BICC1 DNAJB11 IFT140 LRP5 PKD1 PKD2
7 mortality/aging MP:0010768 9.5 ALG9 BICC1 DNAJB11 GANAB HAX1 HNF1B

Drugs & Therapeutics for Autosomal Dominant Polycystic Kidney Disease

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

(show top 50) (show all 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4 145040-37-5
2
Curcumin Approved, Investigational Phase 4 458-37-7, 84765-67-3 969516
3
Pravastatin Approved Phase 4 81093-37-0 54687
4
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231
5
Cilnidipine Investigational Phase 4 132203-70-4 2752 5282138
6
Candesartan Experimental Phase 4 139481-59-7 2541
7 Adrenergic Antagonists Phase 4
8 Adrenergic alpha-Antagonists Phase 4
9 Adrenergic Agents Phase 4
10 Antirheumatic Agents Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Analgesics Phase 4
14 Lipid Regulating Agents Phase 4
15 Antimetabolites Phase 4
16 Anticholesteremic Agents Phase 4
17 Hypolipidemic Agents Phase 4
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
19 Sodium Channel Blockers Phase 4
20 Diuretics, Potassium Sparing Phase 4
21 Anti-Inflammatory Agents Phase 4
22
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605 16129706
23
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
24
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
25
Lanreotide Approved Phase 3 108736-35-2 71349 6918011
26
Lactitol Approved, Investigational Phase 3 585-86-4, 585-88-6 157355 493591
27
Carbamide peroxide Approved Phase 2, Phase 3 124-43-6
28
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
29
Hydralazine Approved Phase 3 86-54-4 3637
30
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
31
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
32
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
33
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
34
Clonidine Approved Phase 3 4205-91-8, 4205-90-7 2803 20179
35
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
36
Tolvaptan Approved Phase 3 150683-30-0 216237
37
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
38
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
39
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
40
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
41
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
42
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
43
Tannic acid Approved Phase 2, Phase 3 1401-55-4 16129878 16129778
44
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
45 Liver Extracts Phase 2, Phase 3
46 Contraceptive Agents, Male Phase 3
47 Contraceptive Agents Phase 3
48 Antineoplastic Agents, Alkylating Phase 3
49 Alkylating Agents Phase 3
50 Antihypertensive Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 162)
# 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 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Completed NCT03949894 Phase 4 Tolvaptan
5 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Completed NCT02494141 Phase 4 Curcumin
6 Treatment of Vascular Stiffness in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT05228574 Phase 4 Amiloride Hcl 5mg Tab
7 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
8 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
9 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
10 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Unknown status NCT03764605 Phase 3 Metformin;Tolvaptan
11 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
12 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
13 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
14 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
15 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
16 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
17 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
18 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
19 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) Completed NCT02964273 Phase 3 Phase A Tolvaptan;Placebo Phase A;Phase B Tolvaptan
20 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
21 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
22 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
23 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
24 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
25 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
26 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
27 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
28 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
29 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
30 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
31 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
32 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
33 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
34 HALT Progression of Polycystic Kidney Disease Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
35 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
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 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) Recruiting NCT04786574 Phase 3 Tolvaptan (OPC-41061)
39 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) Recruiting NCT04782258 Phase 3 Tolvaptan Suspension;Tolvaptan Tablets
40 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 Active, not recruiting NCT04152837 Phase 3 Lixivaptan
41 Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD): A Randomised Placebo-Controlled Trial Not yet recruiting NCT04939935 Phase 3 Metformin XR
42 HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of Life Not yet recruiting NCT05373264 Phase 3 Hydrochlorothiazide 25 mg;Placebo
43 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) Terminated NCT04705051 Phase 3 Venglustat GZ402671
44 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
45 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) Terminated NCT03523728 Phase 2, Phase 3 Venglustat GZ402671;Placebo
46 A 2-Year, Phase 3 Study of the Efficacy and Safety of Lixivaptan in Participants With Autosomal Dominant Polycystic Kidney Disease Consisting of a 1-year Double-blind, Placebo-controlled, Randomized Phase and a 1-year Open-label Phase Terminated NCT04064346 Phase 3 Lixivaptan;Placebo
47 PA-ADPKD-304: A Phase 3, Open-label, Roll-over Study to Assess Long-term Safety of Lixivaptan in Participants With Autosomal Dominant Polycystic Kidney Disease Who Completed Study PA-ADPKD-303: The ALERT Study Terminated NCT05208866 Phase 3 Lixivaptan
48 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
49 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
50 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

Search NIH Clinical Center for Autosomal Dominant Polycystic Kidney Disease

Cochrane evidence based reviews: polycystic kidney diseases

Genetic Tests for Autosomal Dominant Polycystic Kidney Disease

Genetic tests related to Autosomal Dominant Polycystic Kidney Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease, Adult Type 28 PKD1
2 Autosomal Dominant Polycystic Kidney Disease 28

Anatomical Context for Autosomal Dominant Polycystic Kidney Disease

Organs/tissues related to Autosomal Dominant Polycystic Kidney Disease:

FMA: Kidney
MalaCards : Kidney, Liver, Pancreas, Heart, Brain, Endothelial, Pituitary

Publications for Autosomal Dominant Polycystic Kidney Disease

Articles related to Autosomal Dominant Polycystic Kidney Disease:

(show top 50) (show all 5320)
# Title Authors PMID Year
1
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. 62 24 5
33168999 2021
2
ALG9 Mutation Carriers Develop Kidney and Liver Cysts. 62 24 5
31395617 2019
3
Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies. 62 24 5
29270497 2017
4
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 62 24 5
26139440 2016
5
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 62 24 5
25574838 2015
6
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 62 24 5
25333066 2014
7
Type of PKD1 mutation influences renal outcome in ADPKD. 62 24 5
23431072 2013
8
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 62 24 5
23064367 2012
9
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 62 24 5
22508176 2012
10
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. 62 24 5
20558538 2010
11
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 62 24 5
19165178 2009
12
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 62 24 5
17582161 2007
13
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families. 62 5
32457805 2020
14
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing. 62 5
31740684 2019
15
Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients. 62 5
30989420 2019
16
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD. 62 5
30816285 2019
17
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction. 62 5
30333007 2018
18
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. 62 5
29529603 2018
19
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. 62 5
27165007 2016
20
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). 62 5
27499327 2016
21
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System. 62 5
27835667 2016
22
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. 62 5
26632257 2015
23
A novel mutation of the PKD2 gene in a Japanese patient with autosomal dominant polycystic kidney disease and complete situs inversus. 62 5
25149526 2014
24
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. 62 5
24694054 2014
25
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. 62 5
24374109 2014
26
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 62 5
23300259 2013
27
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. 62 5
22863349 2012
28
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 62 5
22383692 2012
29
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease. 62 5
22185115 2011
30
High Resolution Melt analysis for mutation screening in PKD1 and PKD2. 62 5
22008521 2011
31
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 62 5
21115670 2011
32
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease. 62 5
19686598 2009
33
Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations. 62 5
18077784 2008
34
Novel human pathological mutations. Gene symbol: PKD1. Disease: human autosomal dominant polycystic kidney disease. 62 5
18350644 2007
35
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. 62 5
17574468 2007
36
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 62 5
15772804 2005
37
[Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. 62 5
15192819 2004
38
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 62 5
12842373 2003
39
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. 62 5
12482949 2002
40
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. 62 5
12007219 2002
41
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 62 5
11968093 2002
42
Polycystic Kidney Disease, Autosomal Dominant 62 5
20301424 2002
43
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. 62 5
11115377 2001
44
Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 62 5
11012875 2000
45
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. 62 5
10655152 2000
46
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. 62 5
10987650 1999
47
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 62 5
10364515 1999
48
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. 62 5
9773786 1998
49
Gene conversion is a likely cause of mutation in PKD1. 62 5
9668165 1998
50
Mutation detection in the repeated part of the PKD1 gene. 62 5
9345095 1997

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

5 (show top 50) (show all 1281)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD1 NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) SNV Other
427740 rs1114167365 GRCh37: 16:2185564-2185564
GRCh38: 16:2135563-2135563
2 PKD1 NM_001009944.3(PKD1):c.4826T>C (p.Ile1609Thr) SNV Other
974494 rs753696579 GRCh37: 16:2160342-2160342
GRCh38: 16:2110341-2110341
3 PKD1 NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile) SNV Other
974496 rs750076336 GRCh37: 16:2160036-2160036
GRCh38: 16:2110035-2110035
4 PKD1 NM_001009944.3(PKD1):c.8998C>T (p.Arg3000Cys) SNV Other
974537 rs1279596250 GRCh37: 16:2152585-2152585
GRCh38: 16:2102584-2102584
5 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs) DUP Pathogenic
974533 rs2091601824 GRCh37: 16:2141892-2141893
GRCh38: 16:2091891-2091892
6 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) SNV Pathogenic
Pathogenic
974534 rs199476098 GRCh37: 16:2141862-2141862
GRCh38: 16:2091861-2091861
7 PKD1 NM_001009944.3(PKD1):c.8897_8898del (p.Glu2966fs) MICROSAT Pathogenic
974535 rs2092154654 GRCh37: 16:2152865-2152866
GRCh38: 16:2102864-2102865
8 PKD1 NM_001009944.3(PKD1):c.8945del (p.Pro2982fs) DEL Pathogenic
974536 rs2092151870 GRCh37: 16:2152818-2152818
GRCh38: 16:2102817-2102817
9 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) DUP Pathogenic
521541 rs1555447011 GRCh37: 16:2143887-2143888
GRCh38: 16:2093886-2093887
10 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.10822-1G>C SNV Pathogenic
974527 rs2091715597 GRCh37: 16:2143740-2143740
GRCh38: 16:2093739-2093739
11 PKD1 NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs) DUP Pathogenic
974500 rs2092345946 GRCh37: 16:2156638-2156639
GRCh38: 16:2106637-2106638
12 PKD1 NM_001009944.3(PKD1):c.1136dup (p.Asn379fs) DUP Pathogenic
974531 rs2092665918 GRCh37: 16:2167856-2167857
GRCh38: 16:2117855-2117856
13 PKD1 NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs) DUP Pathogenic
974540 rs2092049440 GRCh37: 16:2150478-2150479
GRCh38: 16:2100477-2100478
14 PKD1 NM_001009944.3(PKD1):c.9568+1G>C SNV Pathogenic
974541 rs2092046394 GRCh37: 16:2150396-2150396
GRCh38: 16:2100395-2100395
15 PKD1 NM_001009944.3(PKD1):c.9841del (p.Ala3281fs) DEL Pathogenic
974542 rs2092021706 GRCh37: 16:2149944-2149944
GRCh38: 16:2099943-2099943
16 PKD1 NM_001009944.3:c.(287+1_288-1)_(12003+1_12004-1)del DEL Pathogenic
974559 GRCh37:
GRCh38:
17 PKD1 NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter) SNV Pathogenic
1030954 rs2092447380 GRCh37: 16:2159531-2159531
GRCh38: 16:2109530-2109530
18 PKD1 NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) DEL Pathogenic
1034359 rs2092262890 GRCh37: 16:2154614-2154617
GRCh38: 16:2104613-2104616
19 PKD1 NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter) SNV Pathogenic
1048641 GRCh37: 16:2159878-2159878
GRCh38: 16:2109877-2109877
20 PKD1 NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) DUP Pathogenic
1048642 GRCh37: 16:2161236-2161237
GRCh38: 16:2111235-2111236
21 PKD1 NM_001009944.3(PKD1):c.5856del (p.Asn1954fs) DEL Pathogenic
1048645 GRCh37: 16:2159312-2159312
GRCh38: 16:2109311-2109311
22 PKD1 NM_001009944.3(PKD1):c.499del (p.Gly168fs) DEL Pathogenic
1048760 GRCh37: 16:2168707-2168707
GRCh38: 16:2118706-2118706
23 PKD1 NM_001009944.3(PKD1):c.8791+40_10050+3del DEL Pathogenic
1050228 GRCh37: 16:2149642-2153227
GRCh38: 16:2099641-2103226
24 PKD1 NM_001009944.3(PKD1):c.11723T>C (p.Leu3908Pro) SNV Pathogenic
1064647 GRCh37: 16:2141165-2141165
GRCh38: 16:2091164-2091164
25 PKD1 NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) SNV Pathogenic
1064656 GRCh37: 16:2160459-2160459
GRCh38: 16:2110458-2110458
26 PKD1 NM_001009944.3(PKD1):c.1606+1G>A SNV Pathogenic
1172882 GRCh37: 16:2166833-2166833
GRCh38: 16:2116832-2116832
27 PKD1 NM_001009944.3(PKD1):c.10219del (p.Ser3407fs) DEL Pathogenic
1177416 GRCh37: 16:2147730-2147730
GRCh38: 16:2097729-2097729
28 PKD1 NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter) SNV Pathogenic
1177417 GRCh37: 16:2158886-2158886
GRCh38: 16:2108885-2108885
29 PKD1 NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs) DUP Pathogenic
1177427 GRCh37: 16:2147366-2147367
GRCh38: 16:2097365-2097366
30 PKD1 NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) MICROSAT Pathogenic
Pathogenic
972870 rs1555453872 GRCh37: 16:2157949-2157955
GRCh38: 16:2107948-2107954
31 PKD1 NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) DUP Pathogenic
1179034 GRCh37: 16:2160424-2160425
GRCh38: 16:2110423-2110424
32 PKD1 NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) SNV Pathogenic
636605 rs1567200098 GRCh37: 16:2160721-2160721
GRCh38: 16:2110720-2110720
33 PKD1 NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) SNV Pathogenic
586276 rs1567200117 GRCh37: 16:2160724-2160724
GRCh38: 16:2110723-2110723
34 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) MICROSAT Pathogenic
1077162 GRCh37: 16:2144183-2144184
GRCh38: 16:2094182-2094183
35 PKD1-AS1, PKD1 NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) DEL Pathogenic
1179066 GRCh37: 16:2144195-2144195
GRCh38: 16:2094194-2094194
36 PKD1 NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) SNV Pathogenic
805173 rs752793757 GRCh37: 16:2158525-2158525
GRCh38: 16:2108524-2108524
37 PKD1 NM_001009944.3(PKD1):c.659del (p.Gly220fs) DEL Pathogenic
1179075 GRCh37: 16:2168334-2168334
GRCh38: 16:2118333-2118333
38 PKD1 NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) SNV Pathogenic
1179077 GRCh37: 16:2158744-2158744
GRCh38: 16:2108743-2108743
39 PKD1 NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) DUP Pathogenic
1179078 GRCh37: 16:2168361-2168362
GRCh38: 16:2118360-2118361
40 PKD1 NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) SNV Pathogenic
1179089 GRCh37: 16:2169323-2169323
GRCh38: 16:2119322-2119322
41 PKD1 NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) SNV Pathogenic
974497 rs1304952446 GRCh37: 16:2168427-2168427
GRCh38: 16:2118426-2118426
42 PKD1 NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) SNV Pathogenic
974503 rs2092321142 GRCh37: 16:2155913-2155913
GRCh38: 16:2105912-2105912
43 PKD1 NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) SNV Pathogenic
974504 rs764840802 GRCh37: 16:2155418-2155418
GRCh38: 16:2105417-2105417
44 PKD1 NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) SNV Pathogenic
636940 rs757768731 GRCh37: 16:2155355-2155355
GRCh38: 16:2105354-2105354
45 PKD1 NM_001009944.3(PKD1):c.5080del (p.His1694fs) DEL Pathogenic
974495 rs2092460002 GRCh37: 16:2160088-2160088
GRCh38: 16:2110087-2110087
46 PKD1 NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs) DUP Pathogenic
974449 rs2092478837 GRCh37: 16:2160682-2160683
GRCh38: 16:2110681-2110682
47 PKD1 NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter) DUP Pathogenic
974493 rs2092477162 GRCh37: 16:2160617-2160618
GRCh38: 16:2110616-2110617
48 PKD1 NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter) SNV Pathogenic
974445 rs2092555939 GRCh37: 16:2162883-2162883
GRCh38: 16:2112882-2112882
49 PKD1 NM_001009944.3(PKD1):c.3295+1G>T SNV Pathogenic
974446 rs2092536130 GRCh37: 16:2162340-2162340
GRCh38: 16:2112339-2112339
50 PKD1 NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) SNV Pathogenic
974447 rs2092506242 GRCh37: 16:2161561-2161561
GRCh38: 16:2111560-2111560

Expression for Autosomal Dominant Polycystic Kidney Disease

Search GEO for disease gene expression data for Autosomal Dominant Polycystic Kidney Disease.

Pathways for Autosomal Dominant Polycystic Kidney Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.6 TNF PRKD1 LRP5
2 11.47 TSC2 TNF LRP5
3 11.18 PKHD1 PKD2 PKD1
4
Show member pathways
11.06 PKHD1 PKD2 PKD1 IFT140

GO Terms for Autosomal Dominant Polycystic Kidney Disease

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

# Name GO ID Score Top Affiliating Genes
1 cation channel complex GO:0034703 9.26 PKD2 PKD1
2 polycystin complex GO:0002133 8.92 PKD2 PKD1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 10.07 BICC1 IFT140 PKD1 PKD2 TSC2
2 determination of left/right symmetry GO:0007368 9.95 PKD2 IFT140 BICC1
3 kidney development GO:0001822 9.81 PKHD1 PKD2 PKD1 HNF1B BICC1
4 detection of mechanical stimulus GO:0050982 9.8 PKD2 PKD1
5 branching morphogenesis of an epithelial tube GO:0048754 9.8 PKHD1 PKD1 HNF1B
6 placenta blood vessel development GO:0060674 9.76 PKD2 PKD1
7 cytoplasmic sequestering of transcription factor GO:0042994 9.73 PKD2 PKD1
8 metanephric ascending thin limb development GO:0072218 9.71 PKD2 PKD1
9 cell-cell signaling by wnt GO:0198738 9.56 PKD2 PKD1
10 mesonephric duct development GO:0072177 9.35 PKD2 PKD1 HNF1B
11 mesonephric tubule development GO:0072164 9.02 PKD2 PKD1 HNF1B

Sources for Autosomal Dominant Polycystic Kidney Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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