PKD1
MCID: PLY168
MIFTS: 65

Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease (PKD1)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

MalaCards integrated aliases for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

Name: Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 57 72
Polycystic Kidney Disease 1 57 12 15 70
Polycystic Kidney Disease, Adult Type 73 29 6
Adpkd 57 72 54
Pkd1 57 12 72
Potter Type Iii Polycystic Kidney Disease 72 70
Polycystic Kidney Disease, Adult, Type I 57 12
Polycystic Kidney, Autosomal Dominant 44 70
Apkd1 57 12
Polycystic Kidney, Type 1 Autosomal Dominant Disease 70
Potter Type Iii Polycystic Kidney Disease, Formerly 57
Polycystic Kidney Type 1 Autosomal Dominant Disease 54
Polycystic Kidney Disease, Adult, Type I; Apkd1 57
Autosomal Dominant Polycystic Kidney Disease 1 72
Polycystic Kidney Disease, Adult; Adpkd 57
Polycystic Kidney Disease, Adult Type I 13
Adult Polycystic Kidney Disease Type 1 72
Kidney Disease, Polycystic, Type 1 39
Polycystic Kidney Disease, Type 1 73
Polycystic Kidney Disease, Adult 57
Polycystic Kidney Disease Type I 72
Polycystic Kidney Disease Adult 72
Polycystic Kidney Diseases 70
Polycystic Kidneys 72
Adpkd1 72
Pkd-1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
polycystic kidney disease 1 with or without polycystic liver disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110858
OMIM® 57 173900
OMIM Phenotypic Series 57 PS173900
UMLS 70 C0022680 C0085413 C0887850 more

Summaries for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

OMIM® : 57 PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). (173900) (Updated 05-Apr-2021)

MalaCards based summary : Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 1, is related to autosomal dominant polycystic kidney disease and polycystic kidney disease. An important gene associated with Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are p70S6K Signaling and Angiopoietin Like Protein 8 Regulatory Pathway. 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 mitral valve prolapse and mitral regurgitation

Disease Ontology : 12 A autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.

UniProtKB/Swiss-Prot : 72 Polycystic kidney disease 1 with or without polycystic liver disease: An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm.

Wikipedia : 73 Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal,... more...

Related Diseases for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Diseases in the Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease family:

Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease

Diseases related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 354)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant polycystic kidney disease 32.8 TSC2 TSC1 PRKD1 PRKCSH PKHD1 PKD3
2 polycystic kidney disease 32.8 TSC2 TSC1 PRKD1 PRKCSH PKHD1 PKD3
3 kidney disease 32.8 TSC2 TSC1 PKHD1 PKD3 PKD2L1 PKD2
4 polycystic kidney disease, infantile severe, with tuberous sclerosis 32.7 TSC2 PKD1
5 polycystic kidney disease 4 with or without polycystic liver disease 32.7 TSC2 PRKD1 PRKCSH PKHD1 PKD2 PKD1
6 polycystic kidney disease 3 with or without polycystic liver disease 32.7 PRKD1 PKD1 GANAB
7 polycystic kidney disease 2 with or without polycystic liver disease 32.7 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2 PKD1
8 polycystic liver disease 1 with or without kidney cysts 32.6 TSC2 TSC1 PRKCSH PKHD1 PKD2 PKD1
9 tuberous sclerosis 32.6 TSC2 TSC1 PKD1 MTOR
10 liver disease 32.6 PRKCSH PKHD1 PKD2 PKD1 GANAB
11 cystic kidney disease 32.6 TSC2 TSC1 PRKD1 PRKCSH PKHD1 PKD2L1
12 polycystic liver disease 32.5 TSC2 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2
13 chronic kidney disease 32.4 PKD2 PKD1 ENPP1 AQP2 ACE
14 hemangioma 32.3 TSC2 TSC1 PKD1 MTOR
15 caroli disease 32.3 PRKCSH PKHD1 PKD2 PKD1
16 hypertension, essential 32.3 PKD2 PKD1 MTOR LOC105371049 EGF AQP2
17 nephronophthisis 32.3 PRKD1 PKHD1 PKD2 PKD1 MTOR
18 joubert syndrome 1 32.1 PRKCSH PKHD1 PKD2 PKD1 AQP2
19 potter's syndrome 32.1 PKHD1 ACE
20 orthostatic intolerance 32.1 PRKCSH PKHD1 PKD2 PKD1 ACE
21 congenital hepatic fibrosis 32.0 PKHD1 PKD1
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 32.0 TSC2 PRKD1 PKD2 PKD1 MTOR
23 nephronophthisis 2 32.0 PKHD1 PKD2 PKD1
24 autosomal genetic disease 32.0 TSC2 PKD2 PKD1 MTOR EGF CFTR
25 multicystic dysplastic kidney 32.0 PKD2 PKD1
26 kartagener syndrome 32.0 PKHD1 PKD2 PKD1 CFTR
27 alport syndrome 31.8 PKD1 EGF ACE
28 tuberous sclerosis 1 31.2 TSC2 TSC1 MTOR
29 angiomyolipoma 30.9 TSC2 TSC1 MTOR
30 tuberous sclerosis 2 30.9 TSC2 TSC1 MTOR
31 urinary tract obstruction 30.5 EGF AQP2 ACE
32 kidney angiomyolipoma 30.5 TSC2 TSC1 MTOR
33 portal hypertension 30.4 PKHD1 CFTR ACE
34 lymphangioleiomyomatosis 30.4 TSC2 TSC1 MTOR
35 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 TSC2 TSC1
36 hajdu-cheney syndrome 11.5
37 diabetes mellitus, neonatal, with congenital hypothyroidism 11.4
38 tubulointerstitial kidney disease, autosomal dominant, 2 11.3
39 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.2
40 intracranial aneurysm 11.1
41 gillessen-kaesbach-nishimura syndrome 11.1
42 marfan syndrome 11.0
43 end stage renal disease 11.0
44 cystic fibrosis 11.0
45 acrorenal syndrome 11.0
46 hypertelorism, teebi type 11.0
47 acrorenal-mandibular syndrome 11.0
48 campomelia, cumming type 11.0
49 bardet-biedl syndrome 12 11.0
50 meckel syndrome 13 11.0

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:



Diseases related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Human phenotypes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 31 very rare (1%) HP:0001634
2 mitral regurgitation 31 very rare (1%) HP:0001653
3 cerebral berry aneurysm 31 very rare (1%) HP:0007029
4 hypertension 31 HP:0000822
5 renal insufficiency 31 HP:0000083
6 polycystic kidney dysplasia 31 HP:0000113
7 colonic diverticula 31 HP:0002253
8 hepatic cysts 31 HP:0001407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatic cysts

Cardiovascular Vascular:
intracranial aneurysm

Abdomen Gastrointestinal:
colon diverticula

Genitourinary Kidneys:
renal failure
polycystic kidney

Cardiovascular Heart:
increased prevalence of valvular disease

Clinical features from OMIM®:

173900 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.8 TSC1
2 Decreased cell migration GR00055-A-3 8.8 MTOR PKD1

MGI Mouse Phenotypes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 ACE CFTR EGF MTOR PKD1 PKD2
2 liver/biliary system MP:0005370 9.81 ACE CFTR ENPP1 PKD1 PKD2 PKHD1
3 mortality/aging MP:0010768 9.77 ACE ALG9 AQP2 CFTR ENPP1 MTOR
4 renal/urinary system MP:0005367 9.32 ACE AQP2 ENPP1 MTOR PKD1 PKD2

Drugs & Therapeutics for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Drugs for Polycystic Kidney Disease 1 with or Without Polycystic Liver 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, 11128-99-7, 4474-91-3 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 Giapreza Phase 4
8 Angiotensin Receptor Antagonists Phase 4
9 Angiotensin-Converting Enzyme Inhibitors Phase 4
10 Angiotensinogen Phase 4
11 Angiotensin II Type 1 Receptor Blockers 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 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
18 Anticholesteremic Agents Phase 4
19 Antimetabolites Phase 4
20 Lipid Regulating Agents Phase 4
21 Hypolipidemic Agents Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Analgesics Phase 4
24 Antirheumatic Agents Phase 4
25 Anti-Inflammatory Agents Phase 4
26 Anti-Inflammatory Agents, Non-Steroidal 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
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
31
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
32
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
33
Clonidine Approved Phase 3 4205-90-7 2803
34
Hydralazine Approved Phase 3 86-54-4 3637
35
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
36
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
37
Lactitol Approved, Investigational Phase 3 585-86-4 157355
38
Octreotide Approved, Investigational Phase 3 83150-76-9 6400441 383414
39
lanreotide Approved Phase 3 108736-35-2
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 4091 14219
44
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
45
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
46
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 6436030 5284616
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 Contraceptive Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 145)
# 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 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Unknown status NCT02055079 Phase 3 Sirolimus;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 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
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 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
15 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
16 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
17 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
18 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
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 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
22 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
23 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
24 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
25 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
26 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
27 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
28 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
29 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
30 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
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 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
34 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
35 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
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 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
40 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
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 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
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 Multi-center, Parallel-group, Randomized, Double-blind, Placebo-masked, Multiple Dose Trial of Modified-release (MR) and Immediate-release (IR) Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01210560 Phase 2 Tolvaptan MR;Tolvaptan MR;Tolvaptan MR;Tolvaptan IR;Tolvaptan MR

Search NIH Clinical Center for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease

Cochrane evidence based reviews: polycystic kidney, autosomal dominant

Genetic Tests for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Genetic tests related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease, Adult Type 29 PKD1

Anatomical Context for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

MalaCards organs/tissues related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

40
Kidney, Liver, Endothelial, Pancreas, Bone, Bone Marrow, Colon

Publications for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Articles related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

(show top 50) (show all 547)
# Title Authors PMID Year
1
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. 54 57 6
10655152 2000
2
A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). 6 57 61
8845849 1996
3
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. 57 6 61
8554072 1996
4
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. 61 57 6
8004675 1994
5
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 57 54 61
12842373 2003
6
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 6 61
26139440 2016
7
Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes. 54 57
20053665 2010
8
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 54 6
19165178 2009
9
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning. 6 54
17100995 2006
10
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 54 6
15772804 2005
11
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 54 6
12707387 2003
12
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. 54 6
11007674 2000
13
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 54 6
10541293 1999
14
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. 54 6
10987650 1999
15
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 6 54
10364515 1999
16
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 6 54
10411676 1999
17
Gene conversion is a likely cause of mutation in PKD1. 54 6
9668165 1998
18
Mutation detection in the repeated part of the PKD1 gene. 6 54
9345095 1997
19
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. 54 6
7581371 1995
20
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. 61 57
7663510 1995
21
Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. 57 61
7633405 1995
22
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. 57 61
7908078 1994
23
A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease. 54 57
8130364 1993
24
Autosomal dominant polycystic kidney disease: new information for genetic counselling. 57 54
1605247 1992
25
The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. 57 54
1577479 1992
26
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. 57 61
1683919 1991
27
The diagnosis and prognosis of autosomal dominant polycystic kidney disease. 54 57
2215575 1990
28
A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. 61 57
2347584 1990
29
ALG9 Mutation Carriers Develop Kidney and Liver Cysts. 6
31395617 2019
30
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD. 6
30816285 2019
31
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction. 6
30333007 2018
32
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. 6
29529603 2018
33
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. 6
28356211 2017
34
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
35
System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. 6
27782177 2016
36
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). 6
27499327 2016
37
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 6
25574838 2015
38
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 6
25333066 2014
39
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. 6
24374109 2014
40
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 6
23300259 2013
41
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 6
23064367 2012
42
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 6
22508176 2012
43
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. 6
22863349 2012
44
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 6
22383692 2012
45
Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease. 6
20950398 2011
46
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 6
21115670 2011
47
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 57
19346236 2009
48
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 6
18837007 2009
49
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 6
17582161 2007
50
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. 6
16540757 2006

Variations for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

ClinVar genetic disease variations for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

6 (show top 50) (show all 986)
# 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.5132C>T (p.Thr1711Ile) SNV other 974496 GRCh37: 16:2160036-2160036
GRCh38: 16:2110035-2110035
3 PKD1 NM_001009944.3(PKD1):c.4826T>C (p.Ile1609Thr) SNV other 974494 GRCh37: 16:2160342-2160342
GRCh38: 16:2110341-2110341
4 PKD1 NM_001009944.3(PKD1):c.8998C>T (p.Arg3000Cys) SNV other 974537 GRCh37: 16:2152585-2152585
GRCh38: 16:2102584-2102584
5 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs) Duplication Pathogenic 974533 GRCh37: 16:2141892-2141893
GRCh38: 16:2091891-2091892
6 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) SNV Pathogenic 974534 GRCh37: 16:2141862-2141862
GRCh38: 16:2091861-2091861
7 PKD1 NM_001009944.3(PKD1):c.8897_8898del (p.Glu2966fs) Microsatellite Pathogenic 974535 GRCh37: 16:2152865-2152866
GRCh38: 16:2102864-2102865
8 PKD1 NM_001009944.3(PKD1):c.8945del (p.Pro2982fs) Deletion Pathogenic 974536 GRCh37: 16:2152818-2152818
GRCh38: 16:2102817-2102817
9 PKD1 NM_001009944.3(PKD1):c.5080del (p.His1694fs) Deletion Pathogenic 974495 GRCh37: 16:2160088-2160088
GRCh38: 16:2110087-2110087
10 PKD1 NM_001009944.3(PKD1):c.1136dup (p.Asn379fs) Duplication Pathogenic 974531 GRCh37: 16:2167856-2167857
GRCh38: 16:2117855-2117856
11 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) Duplication Pathogenic 521541 rs1555447011 GRCh37: 16:2143887-2143888
GRCh38: 16:2093886-2093887
12 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.10822-1G>C SNV Pathogenic 974527 GRCh37: 16:2143740-2143740
GRCh38: 16:2093739-2093739
13 PKD1 NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs) Duplication Pathogenic 974540 GRCh37: 16:2150478-2150479
GRCh38: 16:2100477-2100478
14 PKD1 NM_001009944.3(PKD1):c.9568+1G>C SNV Pathogenic 974541 GRCh37: 16:2150396-2150396
GRCh38: 16:2100395-2100395
15 PKD1 NM_001009944.3(PKD1):c.9841del (p.Ala3281fs) Deletion Pathogenic 974542 GRCh37: 16:2149944-2149944
GRCh38: 16:2099943-2099943
16 PKD1 NM_001009944.3:c.(287+1_288-1)_(12003+1_12004-1)del Deletion Pathogenic 974559 GRCh37:
GRCh38:
17 overlap with 24 genes Deletion Pathogenic 976807 GRCh37: 4:88075149-90714489
GRCh38:
18 PKD1 NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) SNV Pathogenic 974497 GRCh37: 16:2168427-2168427
GRCh38: 16:2118426-2118426
19 PKD1 NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) SNV Pathogenic 562236 rs1567200516 GRCh37: 16:2160862-2160862
GRCh38: 16:2110861-2110861
20 PKD1 NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs) Duplication Pathogenic 974449 GRCh37: 16:2160682-2160683
GRCh38: 16:2110681-2110682
21 PKD1 NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter) Duplication Pathogenic 974493 GRCh37: 16:2160617-2160618
GRCh38: 16:2110616-2110617
22 PKD1 NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) SNV Pathogenic 586294 rs1567186946 GRCh37: 16:2156811-2156811
GRCh38: 16:2106810-2106810
23 PKD1 NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs) Duplication Pathogenic 974500 GRCh37: 16:2156638-2156639
GRCh38: 16:2106637-2106638
24 PKD1 NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) SNV Pathogenic 974503 GRCh37: 16:2155913-2155913
GRCh38: 16:2105912-2105912
25 PKD1 NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) SNV Pathogenic 974504 GRCh37: 16:2155418-2155418
GRCh38: 16:2105417-2105417
26 PKD1 NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) SNV Pathogenic 636940 rs757768731 GRCh37: 16:2155355-2155355
GRCh38: 16:2105354-2105354
27 PKD1 NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) Deletion Pathogenic 522395 rs1555459084 GRCh37: 16:2168096-2168097
GRCh38: 16:2118095-2118096
28 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) SNV Pathogenic 873379 GRCh37: 16:2142116-2142116
GRCh38: 16:2092115-2092115
29 PKD1 NM_001009944.3(PKD1):c.1669dup (p.Leu557fs) Duplication Pathogenic 974405 GRCh37: 16:2166582-2166583
GRCh38: 16:2116581-2116582
30 PKD1 NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter) SNV Pathogenic 974406 GRCh37: 16:2166552-2166552
GRCh38: 16:2116551-2116551
31 PKD1 NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter) SNV Pathogenic 974407 GRCh37: 16:2166032-2166032
GRCh38: 16:2116031-2116031
32 PKD1 NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter) SNV Pathogenic 974442 GRCh37: 16:2164911-2164911
GRCh38: 16:2114910-2114910
33 PKD1 NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) Duplication Pathogenic 562288 rs1567210630 GRCh37: 16:2164529-2164530
GRCh38: 16:2114528-2114529
34 PKD1 NM_001009944.3(PKD1):c.2542C>T (p.Gln848Ter) SNV Pathogenic 974443 GRCh37: 16:2164482-2164482
GRCh38: 16:2114481-2114481
35 PKD1 NM_001009944.3(PKD1):c.2659del (p.Trp887fs) Deletion Pathogenic 974444 GRCh37: 16:2164365-2164365
GRCh38: 16:2114364-2114364
36 PKD1 NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) SNV Pathogenic 440123 rs1555457446 GRCh37: 16:2163215-2163215
GRCh38: 16:2113214-2113214
37 PKD1 NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter) SNV Pathogenic 974445 GRCh37: 16:2162883-2162883
GRCh38: 16:2112882-2112882
38 PKD1 NM_001009944.3(PKD1):c.3295+1G>T SNV Pathogenic 974446 GRCh37: 16:2162340-2162340
GRCh38: 16:2112339-2112339
39 PKD1 NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) SNV Pathogenic 974447 GRCh37: 16:2161561-2161561
GRCh38: 16:2111560-2111560
40 PKD1 NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) SNV Pathogenic 8198 rs199476095 GRCh37: 16:2139958-2139958
GRCh38: 16:2089957-2089957
41 PKD1 NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) Deletion Pathogenic 447985 rs1555455457 GRCh37: 16:2160153-2160154
GRCh38: 16:2110152-2110153
42 PKD1 NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) SNV Pathogenic 873331 GRCh37: 16:2158675-2158675
GRCh38: 16:2108674-2108674
43 PKD1 Deletion Pathogenic 522444 GRCh37: 16:2163763-2179490
GRCh38: 16:2113762-2129489
44 PKD1 NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter) SNV Pathogenic 981528 GRCh37: 16:2162386-2162386
GRCh38: 16:2112385-2112385
45 PKD1 NM_001009944.3(PKD1):c.849_855TCTGGCC[1] (p.Ser286_Gly287insTer) Microsatellite Pathogenic 448020 rs1555459108 GRCh37: 16:2168131-2168137
GRCh38: 16:2118130-2118136
46 PKD1 NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) SNV Pathogenic 636627 rs764431330 GRCh37: 16:2140752-2140752
GRCh38: 16:2090751-2090751
47 PKD1 NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) SNV Pathogenic 871752 GRCh37: 16:2155412-2155412
GRCh38: 16:2105411-2105411
48 PKD1 , LOC105371049 NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs) Insertion Pathogenic 974397 GRCh37: 16:2141507-2141508
GRCh38: 16:2091506-2091507
49 PKD1 NM_001009944.3(PKD1):c.11725_11740del (p.Leu3909fs) Deletion Pathogenic 974398 GRCh37: 16:2141148-2141163
GRCh38: 16:2091147-2091162
50 PKD1 NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) SNV Pathogenic 974399 GRCh37: 16:2141025-2141025
GRCh38: 16:2091024-2091024

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

72 (show top 50) (show all 92)
# Symbol AA change Variation ID SNP ID
1 PKD1 p.Leu2763Val VAR_005535
2 PKD1 p.Ile2826Thr VAR_005538
3 PKD1 p.Val3008Leu VAR_005539
4 PKD1 p.Val3375Met VAR_005541 rs371283948
5 PKD1 p.Glu3632Asp VAR_005542 rs141637345
6 PKD1 p.Met3678Thr VAR_005543
7 PKD1 p.Gly4032Asp VAR_005545 rs142768096
8 PKD1 p.Arg324Leu VAR_010085 rs199476099
9 PKD1 p.Leu845Ser VAR_010086 rs199476100
10 PKD1 p.Leu2993Pro VAR_010089 rs155545048
11 PKD1 p.Gln3016Arg VAR_010090
12 PKD1 p.Arg4136Gly VAR_010096
13 PKD1 p.Arg4154Cys VAR_010097 rs115538130
14 PKD1 p.Gln4225Pro VAR_010099
15 PKD1 p.Arg4276Trp VAR_010100 rs114251396
16 PKD1 p.Leu13Gln VAR_011030
17 PKD1 p.Ser75Phe VAR_011031
18 PKD1 p.Trp139Cys VAR_011032
19 PKD1 p.Gly1166Ser VAR_011033 rs573566419
20 PKD1 p.Val1956Glu VAR_011034
21 PKD1 p.Tyr2336Asp VAR_011040
22 PKD1 p.Tyr2379Cys VAR_011041
23 PKD1 p.Arg2408Cys VAR_011042 rs538769374
24 PKD1 p.Ala2752Asp VAR_011049
25 PKD1 p.Val2768Met VAR_011052 rs145651004
26 PKD1 p.Glu2771Lys VAR_011053 rs105751889
27 PKD1 p.Leu2816Pro VAR_011056 rs156717768
28 PKD1 p.Gly2858Ser VAR_011057 rs755522953
29 PKD1 p.His2921Pro VAR_011060
30 PKD1 p.Phe3066Leu VAR_011063 rs9925969
31 PKD1 p.Arg3719Gln VAR_011067 rs155544657
32 PKD1 p.Arg3753Trp VAR_011068 rs116747694
33 PKD1 p.Asp3815Asn VAR_011069
34 PKD1 p.Leu3852Pro VAR_011070
35 PKD1 p.Trp967Arg VAR_012453
36 PKD1 p.Arg2392Pro VAR_012454
37 PKD1 p.Ser2423Phe VAR_012455 rs155545320
38 PKD1 p.Pro2471Leu VAR_012456 rs116129862
39 PKD1 p.Leu2696Arg VAR_012464 rs201238819
40 PKD1 p.Arg2985Gly VAR_012467 rs373952574
41 PKD1 p.Arg3039Cys VAR_012468 rs200522524
42 PKD1 p.Val3285Ile VAR_012469 rs201780393
43 PKD1 p.Gly3560Arg VAR_012471 rs79000340
44 PKD1 p.Arg3247His VAR_013838 rs140791671
45 PKD1 p.Thr3382Met VAR_013839 rs776463508
46 PKD1 p.Gln164Arg VAR_058763
47 PKD1 p.Cys210Gly VAR_058764
48 PKD1 p.Gly381Cys VAR_058765
49 PKD1 p.Cys508Arg VAR_058766 rs58598099
50 PKD1 p.Phe594Tyr VAR_058768

Expression for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Search GEO for disease gene expression data for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease.

Pathways for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Pathways related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 TSC2 TSC1 PRKD1 MTOR EGF ACE
2
Show member pathways
12.31 TSC2 TSC1 MTOR ENPP1
3
Show member pathways
12.25 TSC2 TSC1 MTOR CFTR
4
Show member pathways
12.12 TSC2 TSC1 MTOR EGF
5
Show member pathways
11.79 TSC2 TSC1 MTOR CFTR
6
Show member pathways
11.72 PKD2 PKD1 MIR6511B1
7
Show member pathways
11.65 TSC2 TSC1 MTOR
8 11.56 TSC2 TSC1 MTOR
9 11.32 TSC2 TSC1 MTOR
10 11.22 TSC2 TSC1 MTOR
11 10.97 TSC2 TSC1 MTOR EGF
12 10.96 TSC2 TSC1 MTOR
13 10.79 TSC1 MTOR
14 10.65 TSC2 TSC1 MTOR

GO Terms for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Cellular components related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.97 TSC2 PRKD1 PKHD1 PKD2 PKD1 MTOR
2 basolateral plasma membrane GO:0016323 9.73 PKD2 PKD1 ENPP1 AQP2
3 endoplasmic reticulum GO:0005783 9.61 PRKCSH PKHD1 PKD2L1 PKD2 PKD1 MTOR
4 ciliary membrane GO:0060170 9.58 PKD2L1 PKD2 PKD1
5 Golgi-associated vesicle membrane GO:0030660 9.46 PKD1 CFTR
6 TSC1-TSC2 complex GO:0033596 9.32 TSC2 TSC1
7 glucosidase II complex GO:0017177 9.26 PRKCSH GANAB
8 polycystin complex GO:0002133 9.16 PKD2 PKD1
9 cation channel complex GO:0034703 8.8 PKD2L1 PKD2 PKD1

Biological processes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.74 PRKCSH PKD2 PKD1
2 positive regulation of endothelial cell proliferation GO:0001938 9.7 PRKD1 MTOR EGF
3 protein homotetramerization GO:0051289 9.65 PKD2L1 PKD2 AQP2
4 N-glycan processing GO:0006491 9.61 PRKCSH GANAB
5 inorganic cation transmembrane transport GO:0098662 9.61 PKD2L1 PKD2
6 negative regulation of macroautophagy GO:0016242 9.6 TSC1 MTOR
7 protein heterotetramerization GO:0051290 9.59 PKD2 PKD1
8 regulation of cell-matrix adhesion GO:0001952 9.58 TSC1 PKHD1
9 placenta blood vessel development GO:0060674 9.58 PKD2 PKD1
10 anoikis GO:0043276 9.56 TSC2 MTOR
11 metanephric collecting duct development GO:0072205 9.55 PKD1 AQP2
12 negative regulation of cell size GO:0045792 9.54 TSC1 MTOR
13 negative regulation of insulin receptor signaling pathway GO:0046627 9.54 TSC2 TSC1 ENPP1
14 regulation of calcium ion import GO:0090279 9.51 PKD2 EGF
15 spinal cord development GO:0021510 9.5 PKD2 PKD1 MTOR
16 cytoplasmic sequestering of transcription factor GO:0042994 9.49 PKD2 PKD1
17 mesonephric tubule development GO:0072164 9.46 PKD2 PKD1
18 metanephric ascending thin limb development GO:0072218 9.43 PKD2 PKD1
19 branching morphogenesis of an epithelial tube GO:0048754 9.43 PKHD1 PKD1 EGF
20 mesonephric duct development GO:0072177 9.4 PKD2 PKD1
21 cell-cell signaling by wnt GO:0198738 9.16 PKD2 PKD1
22 detection of mechanical stimulus GO:0050982 9.13 PKD2L1 PKD2 PKD1
23 kidney development GO:0001822 9.02 TSC1 PKHD1 PKD2 PKD1 ACE

Molecular functions related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.33 PKD2L1 PKD2 PKD1
2 alpha-actinin binding GO:0051393 9.32 PKD2L1 PKD2
3 muscle alpha-actinin binding GO:0051371 9.26 PKD2L1 PKD2
4 cation channel activity GO:0005261 9.13 PKD2L1 PKD2 PKD1
5 phosphoprotein binding GO:0051219 8.8 PRKCSH PKD2 MTOR

Sources for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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