PKD1
MCID: PLY168
MIFTS: 66

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

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive 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 56 73
Polycystic Kidney Disease 1 56 12 15 71
Polycystic Kidney Disease, Adult Type 74 29 6
Polycystic Kidney, Autosomal Dominant 43 71 32
Adpkd 56 73 54
Pkd1 56 12 73
Potter Type Iii Polycystic Kidney Disease 73 71
Polycystic Kidney Disease, Adult, Type I 56 12
Apkd1 56 12
Polycystic Kidney, Type 1 Autosomal Dominant Disease 71
Potter Type Iii Polycystic Kidney Disease, Formerly 56
Polycystic Kidney Type 1 Autosomal Dominant Disease 54
Polycystic Kidney Disease, Adult, Type I; Apkd1 56
Autosomal Dominant Polycystic Kidney Disease 1 73
Polycystic Kidney Disease, Adult; Adpkd 56
Polycystic Kidney Disease, Adult Type I 13
Adult Polycystic Kidney Disease Type 1 73
Kidney Disease, Polycystic, Type 1 39
Polycystic Kidney Disease, Type 1 74
Polycystic Kidney Disease, Adult 56
Polycystic Kidney Disease Type I 73
Polycystic Kidney Disease Adult 73
Polycystic Kidney Diseases 71
Polycystic Kidneys 73
Adpkd1 73
Pkd-1 73

Characteristics:

OMIM:

56
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 56 173900
OMIM Phenotypic Series 56 PS173900
ICD10 32 Q61.2
UMLS 71 C0022680 C0085413 C0887850 more

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

OMIM : 56 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)

MalaCards based summary : Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 1, is related to polycystic kidney disease, infantile severe, with tuberous sclerosis and polycystic kidney disease 3 with or without polycystic liver 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 Angiopoietin Like Protein 8 Regulatory Pathway and AMP-activated Protein Kinase (AMPK) Signaling. The drugs Candesartan cilexetil and Pravastatin 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 : 73 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 : 74 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 767)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.8 TSC2 PKD1
2 polycystic kidney disease 3 with or without polycystic liver disease 33.7 PRKD1 PKD2 PKD1
3 polycystic liver disease 1 with or without kidney cysts 33.4 TSC2 TSC1 PRKCSH PKHD1 PKD2 PKD1
4 tuberous sclerosis 33.2 TSC2 TSC1 PKD1 MTOR
5 polycystic kidney disease 2 with or without polycystic liver disease 33.1 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2 PKD1
6 autosomal dominant polycystic kidney disease 33.1 TSC2 TSC1 PRKD1 PKHD1 PKD2L1 PKD2
7 end stage renal disease 33.1 PKD2 PKD1 NPHP3 INVS
8 nephronophthisis 1 33.0 PKD1 NPHP3 INVS
9 congenital hepatic fibrosis 32.9 PKHD1 PKD1
10 chronic kidney disease 32.9 PKD2 PKD1 INVS HNF1B ENPP1 AQP2
11 caroli disease 32.8 PRKCSH PKHD1 PKD2 PKD1 NPHP3 INVS
12 orthostatic intolerance 32.7 PRKD1 PRKCSH PKHD1 PKD2 PKD1
13 polycystic kidney disease 4 with or without polycystic liver disease 32.7 TSC2 PRKD1 PRKCSH PKHD1 PKD2 PKD1
14 kidney disease 32.6 TSC2 TSC1 PKHD1 PKD2L1 PKD2 PKD1
15 polycystic liver disease 32.5 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2 PKD1
16 multicystic dysplastic kidney 32.4 PKD2 PKD1
17 nephronophthisis 32.4 PRKD1 PKHD1 PKD2 PKD1 NPHP3 MTOR
18 renal dysplasia, cystic 32.4 PKD1 NPHP3
19 bardet-biedl syndrome 32.3 PKHD1 PKD2 PKD1 NPHP3 INVS IFT88
20 visceral heterotaxy 32.2 PKD2 PKD1 NPHP3 INVS IFT88
21 joubert syndrome 1 32.1 PKHD1 PKD2 PKD1 NPHP3 INVS IFT88
22 polycystic kidney disease 32.1 TSC2 TSC1 PRKD1 PRKCSH PKHD1 PKD2L1
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 32.1 TSC2 TSC1 PRKD1 PKD2 PKD1 MTOR
24 nephronophthisis 2 32.1 PKHD1 PKD2 PKD1 NPHP3 INVS IFT88
25 meckel syndrome, type 1 32.1 PKHD1 PKD2 PKD1 NPHP3 INVS IFT88
26 kartagener syndrome 32.0 PKD2 PKD1 NPHP3 INVS IFT88 CFTR
27 primary ciliary dyskinesia 32.0 PKD2 PKD1 NPHP3 INVS IFT88 CFTR
28 autosomal genetic disease 31.9 TSC2 PRKD1 PKD2 PKD1 MTOR EGF
29 cystic kidney disease 31.7 TSC2 TSC1 PRKD1 PRKCSH PKHD1 PKD2L1
30 retinitis pigmentosa 31.6 TSC1 PKHD1 PKD2 PKD1 NPHP3 MTOR
31 tuberous sclerosis 1 31.1 TSC2 TSC1 MTOR
32 tuberous sclerosis 2 31.0 TSC2 TSC1 MTOR
33 angiomyolipoma 31.0 TSC2 TSC1 MTOR
34 kidney angiomyolipoma 30.9 TSC2 TSC1 MTOR
35 meckel syndrome, type 3 30.8 NPHP3 INVS IFT88
36 ascending cholangitis 30.7 PRKD1 PKHD1
37 oligohydramnios 30.6 PKHD1 INVS HNF1B
38 kidney cancer 30.6 TSC2 TSC1 MTOR EGF
39 lymphangioleiomyomatosis 30.3 TSC2 TSC1 MTOR
40 senior-loken syndrome 1 30.2 NPHP3 INVS IFT88
41 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.1 TSC2 TSC1
42 polycystic kidney disease 4 12.7
43 polycystic kidney, cataract, and congenital blindness 12.5
44 hajdu-cheney syndrome 12.4
45 gillessen-kaesbach-nishimura syndrome 12.2
46 diabetes mellitus, neonatal, with congenital hypothyroidism 12.1
47 orofaciodigital syndrome i 11.9
48 orofaciodigital syndrome 11.7
49 medullary cystic kidney disease 1 11.6
50 intracranial aneurysm 11.6

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 renal insufficiency 31 HP:0000083
5 hypertension 31 HP:0000822
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:

56
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

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.74 MTOR PKD1
2 Decreased viability GR00055-A-2 9.74 MTOR PKD1
3 Decreased viability GR00221-A-1 9.74 MTOR PRKCSH
4 Decreased viability GR00221-A-2 9.74 PRKCSH TSC1
5 Decreased viability GR00221-A-3 9.74 PRKCSH TSC1
6 Decreased viability GR00221-A-4 9.74 MTOR
7 Decreased viability GR00249-S 9.74 ENPP1 HNF1B PCSK2 PKD2 PKD2L1 PRKCSH
8 Decreased viability GR00301-A 9.74 PKD2 PRKCSH TSC1
9 Decreased viability GR00342-S-1 9.74 MTOR
10 Decreased viability GR00342-S-2 9.74 MTOR
11 Decreased viability GR00386-A-1 9.74 ALG9 HNF1B
12 Decreased viability GR00402-S-2 9.74 ENPP1 PRKD1
13 Decreased cell migration GR00055-A-1 9.13 TSC1
14 Decreased cell migration GR00055-A-3 9.13 MTOR PKD1

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

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 ENPP1 HBA2 HNF1B IFT88 INVS MTOR
2 growth/size/body region MP:0005378 10.35 AQP2 CFTR EGF ENPP1 HBA2 HNF1B
3 homeostasis/metabolism MP:0005376 10.34 AQP2 CFTR ENPP1 HBA2 HNF1B IFT88
4 cardiovascular system MP:0005385 10.33 ENPP1 IFT88 INVS MTOR NPHP3 PCSK2
5 behavior/neurological MP:0005386 10.3 ALG9 AQP2 CFTR ENPP1 IFT88 MTOR
6 endocrine/exocrine gland MP:0005379 10.27 CFTR EGF HNF1B IFT88 INVS MTOR
7 hematopoietic system MP:0005397 10.23 AQP2 CFTR HBA2 INVS MTOR NPHP3
8 mortality/aging MP:0010768 10.21 ALG9 AQP2 CFTR ENPP1 HBA2 HNF1B
9 embryo MP:0005380 10.16 HNF1B IFT88 INVS MTOR NPHP3 PKD1
10 immune system MP:0005387 10.14 CFTR EGF ENPP1 HNF1B INVS MTOR
11 digestive/alimentary MP:0005381 10.07 CFTR EGF IFT88 INVS PKD1 PKD2
12 integument MP:0010771 10.07 ALG9 AQP2 EGF ENPP1 HBA2 IFT88
13 liver/biliary system MP:0005370 10.06 CFTR ENPP1 HNF1B IFT88 INVS PKD1
14 renal/urinary system MP:0005367 10 AQP2 ENPP1 HNF1B IFT88 INVS MTOR
15 reproductive system MP:0005389 9.61 AQP2 CFTR EGF HBA2 PCSK2 PKD1
16 respiratory system MP:0005388 9.23 CFTR IFT88 INVS 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 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
2
Pravastatin Approved Phase 4 81093-37-0 54687
3
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
4
Cilnidipine Investigational Phase 4 132203-70-4 5282138
5
Candesartan Experimental Phase 4 139481-59-7 2541
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic Agents Phase 4
9 Hypolipidemic Agents Phase 4
10 Lipid Regulating Agents Phase 4
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
12 Anticholesteremic Agents Phase 4
13 Antimetabolites Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Analgesics Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Antirheumatic Agents Phase 4
18
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
19
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
20
lanreotide Approved Phase 3 108736-35-2
21
Spironolactone Approved Phase 3 52-01-7, 1952-01-7 5833
22
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
23
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
24
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
25
Lisinopril Approved, Investigational Phase 3 76547-98-3, 83915-83-7 5362119
26
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
27
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
28
Hydralazine Approved Phase 3 86-54-4 3637
29
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
30
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
31
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
32
Clonidine Approved Phase 3 4205-90-7 2803
33
Tolvaptan Approved Phase 3 150683-30-0 216237
34
Metformin Approved Phase 3 657-24-9 14219 4091
35
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
36
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
37
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
38
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
39
tannic acid Approved Phase 2, Phase 3 1401-55-4
40
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
41 Triptolide Investigational Phase 3 38748-32-2
42 Contraceptive Agents, Male Phase 3
43 Alkylating Agents Phase 3
44 Contraceptive Agents Phase 3
45 Gastrointestinal Agents Phase 3
46 Calcium, Dietary Phase 3
47 Angiotensin II Type 1 Receptor Blockers Phase 3
48 Angiotensinogen Phase 3
49 Angiotensin Receptor Antagonists Phase 3
50 Angiotensin-Converting Enzyme Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 141)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Recruiting NCT03949894 Phase 4 Tolvaptan
4 Statin Therapy in Patients With Early Stage ADPKD Recruiting NCT03273413 Phase 4 Pravastatin;Placebo
5 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 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 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
10 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
11 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
12 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3 OPC-41061
13 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
14 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
15 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
16 Effect of Long-acting Somatostatin on Liver in Autosomal Dominant Polycystic Kidney Disease Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
17 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
18 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
19 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
20 Lanreotide In Polycystic Kidney Disease Study Completed NCT02127437 Phase 3 Lanreotide;saline
21 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
22 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
23 Long-Acting Lanreotide as a Volume Reducing Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
24 Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Completed NCT01853553 Phase 3 Spironolactone;Sugar pill
25 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
26 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
27 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
28 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
29 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
30 HALT Progression of Polycystic Kidney Disease Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
31 HALT Progression of Polycystic Kidney Disease Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
32 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
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 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
35 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 Tolvaptan;Matching Placebo
36 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
37 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 Not yet recruiting NCT04152837 Phase 3 Lixivaptan
38 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
39 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
40 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
41 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
42 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
43 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
44 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
45 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind, Placebo-masked, Parallel-group Pilot Trial to Compare the Efficacy, Tolerability, and Safety of Tolvaptan Modified-release and Immediate-release Formulations in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
46 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001] Completed NCT00841568 Phase 2 OPC-41061
47 A Phase 2, Open-Label, Multi-Center Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT03487913 Phase 2 Lixivaptan
48 A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases Completed NCT03366337 Phase 2 Bardoxolone methyl capsules
49 A Phase 1b/2a, Safety, Pharmacokinetic and Dose-Escalation Study of KD019 in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)
50 The Effects of Tolvaptan on Renal Handling of Water and Sodium, Vasoactive Hormones and Central Hemodynamics During Baseline Conditions and After Inhibition of the Nitric Oxide System in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02527863 Phase 2 Tolvaptan;Placebo

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, Colon, Testes, Bone

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 645)
# Title Authors PMID Year
1
A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). 61 6 56
8845849 1996
2
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. 6 56 61
8554072 1996
3
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. 56 6 61
8004675 1994
4
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 54 61 56
12842373 2003
5
Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes. 56 54
20053665 2010
6
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 56 54
19346236 2009
7
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. 54 6
11571556 2001
8
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. 56 54
10655152 2000
9
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. 54 6
10987650 1999
10
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 54 6
10364515 1999
11
Gene conversion is a likely cause of mutation in PKD1. 6 54
9668165 1998
12
Mutation detection in the repeated part of the PKD1 gene. 54 6
9345095 1997
13
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. 56 54
9222969 1997
14
Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease. 6 54
8792818 1996
15
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. 6 54
7581371 1995
16
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. 56 61
7663510 1995
17
Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. 61 56
7633405 1995
18
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. 61 56
7908078 1994
19
A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease. 54 56
8130364 1993
20
Autosomal dominant polycystic kidney disease: new information for genetic counselling. 54 56
1605247 1992
21
The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. 54 56
1577479 1992
22
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. 61 56
1683919 1991
23
The diagnosis and prognosis of autosomal dominant polycystic kidney disease. 56 54
2215575 1990
24
Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). 56 54
1978860 1990
25
A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. 61 56
2347584 1990
26
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 6
25355838 2014
27
Spanish guidelines for the management of autosomal dominant polycystic kidney disease. 6
25165191 2014
28
Defective planar cell polarity in polycystic kidney disease. 56
16341222 2006
29
Caspase inhibition reduces tubular apoptosis and proliferation and slows disease progression in polycystic kidney disease. 56
15863619 2005
30
Polycystic kidney disease. 56
14711914 2004
31
Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. 56
12672950 2003
32
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. 56
12514735 2003
33
Polycystic Kidney Disease, Autosomal Dominant 6
20301424 2002
34
Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm. 56
11368027 2001
35
Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan. 56
9832641 1998
36
Is there a third gene for autosomal dominant polycystic kidney disease? 56
9844156 1998
37
Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1). 56
9650770 1998
38
Extrarenal manifestations of ADPKD. 56
9186898 1997
39
Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat. 56
9097967 1997
40
Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. 56
9005987 1997
41
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. 56
8978603 1996
42
Recent advances in the clinical management of autosomal-dominant polycystic kidney disease. 56
8977958 1996
43
Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease. 56
8959643 1996
44
More adverse renal prognosis of autosomal dominant polycystic kidney disease in families with primary hypertension. 56
8749692 1995
45
Apoptosis and loss of renal tissue in polycystic kidney diseases. 56
7776989 1995
46
Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. 56
7607660 1995
47
Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium). 56
7633406 1995
48
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. 56
7759112 1995
49
Prognosis of autosomal dominant polycystic kidney disease. 56
8569973 1995
50
Taxol inhibits progression of congenital polycystic kidney disease. 56
7908721 1994

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 518) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKD1 NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)deletion Pathogenic 397614 rs1060499718 16:2140419-2140420 16:2090418-2090419
2 PKD1 NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)SNV Pathogenic 397604 rs369825780 16:2142182-2142182 16:2092181-2092181
3 PKD1 NM_001009944.3(PKD1):c.6424del (p.Gln2142fs)deletion Pathogenic 397591 rs1060499702 16:2158744-2158744 16:2108743-2108743
4 PKD1 NM_001009944.3(PKD1):c.6299C>A (p.Ser2100Ter)SNV Pathogenic 397586 rs539793378 16:2158869-2158869 16:2108868-2108868
5 PKD1 NM_001009944.3(PKD1):c.10220+2_10220+3deldeletion Pathogenic 427741 rs1114167366 16:2147726-2147727 16:2097725-2097726
6 PKD1 NM_001009944.3(PKD1):c.5021del (p.Pro1674fs)deletion Pathogenic 433540 rs1555455453 16:2160147-2160147 16:2110146-2110146
7 PKD1 NM_001009944.3(PKD1):c.3503dup (p.Val1169fs)duplication Pathogenic 433550 rs1555456661 16:2161664-2161665 16:2111663-2111664
8 PKD1 NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs)short repeat Pathogenic 433976 rs1555453872 16:2157948-2157949 16:2107947-2107948
9 PKD1 NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)SNV Pathogenic 433970 rs1555454604 16:2158969-2158969 16:2108968-2108968
10 PKD1 NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs)duplication Pathogenic 438665 rs1555447196 16:2144150-2144151 16:2094149-2094150
11 PKD1 NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)SNV Pathogenic 438684 rs745912756 16:2143033-2143033 16:2093032-2093032
12 PKD1 NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter)SNV Pathogenic 438680 rs1453883641 16:2156460-2156460 16:2106459-2106459
13 PKD1 NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)SNV Pathogenic 440073 rs1555446576 16:2142955-2142955 16:2092954-2092954
14 PKD1 NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)SNV Pathogenic 441260 rs1555450968 16:2153354-2153354 16:2103353-2103353
15 PKD1 NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)SNV Pathogenic 447961 rs1555444985 16:2140782-2140782 16:2090781-2090781
16 PKD1 NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)deletion Pathogenic 447985 rs1555455457 16:2160153-2160154 16:2110152-2110153
17 PKD1 NM_001009944.3(PKD1):c.12499del (p.Arg4167fs)deletion Pathogenic 488184 rs1555444249 16:2140141-2140141 16:2090140-2090140
18 PKD1 NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs)duplication Pathogenic 488185 rs1555450475 16:2152584-2152585 16:2102583-2102584
19 PKD1 NM_001009944.3(PKD1):c.10487del (p.Leu3496fs)deletion Pathogenic 488344 rs1555448106 16:2147161-2147161 16:2097160-2097160
20 PKD1 NM_001009944.3(PKD1):c.11314del (p.Ala3772fs)deletion Pathogenic 488405 rs1555446033 16:2142145-2142145 16:2092144-2092144
21 PKD1 NM_001009944.3(PKD1):c.5809del (p.Ser1937fs)deletion Pathogenic 488406 rs1555454915 16:2159359-2159359 16:2109358-2109358
22 PKD1 NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter)SNV Pathogenic 488407 rs1286585831 16:2167845-2167845 16:2117844-2117844
23 PKD1 NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter)SNV Pathogenic 488408 rs780009030 16:2147377-2147377 16:2097376-2097376
24 PKD1 NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)duplication Pathogenic 448977 rs1555445999 16:2142114-2142115 16:2092113-2092114
25 PKD1 NM_001009944.3(PKD1):c.2622_2626CCCTG[3] (p.Val878fs)short repeat Pathogenic 448969 rs1555457807 16:2164392-2164393 16:2114391-2114392
26 PKD1 NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)deletion Pathogenic 522397 rs1555445585 16:2141572-2141573 16:2091571-2091572
27 PKD1 NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs)duplication Pathogenic 522518 rs1555446582 16:2142973-2142974 16:2092972-2092973
28 PKD1 NM_001009944.3(PKD1):c.11033del (p.Met3678fs)deletion Pathogenic 522396 rs1555446637 16:2143078-2143078 16:2093077-2093077
29 PKD1 NM_001009944.3(PKD1):c.10659del (p.Trp3553fs)deletion Pathogenic 522418 rs1555447057 16:2143974-2143974 16:2093973-2093973
30 PKD1 NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter)SNV Pathogenic 522410 rs1420757773 16:2149918-2149918 16:2099917-2099917
31 PKD1 NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)SNV Pathogenic 522439 rs762003393 16:2155868-2155868 16:2105867-2105867
32 PKD1 NM_001009944.3(PKD1):c.6911_6912CA[1] (p.Gln2305fs)short repeat Pathogenic 522403 rs1555454075 16:2158254-2158255 16:2108253-2108254
33 PKD1 deletion Pathogenic 522444 16:2163763-2179490 16:2113762-2129489
34 PKD1 NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter)SNV Pathogenic 522520 rs1401015526 16:2166856-2166856 16:2116855-2116855
35 PKD1 NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs)deletion Pathogenic 522519 rs1555459001 16:2167905-2167915 16:2117904-2117914
36 PKD1 NM_001009944.3(PKD1):c.4709del (p.Thr1570fs)deletion Pathogenic 522490 rs1555455797 16:2160459-2160459 16:2110458-2110458
37 PKD1 NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)SNV Pathogenic 523776 rs1555454739 16:2159137-2159137 16:2109136-2109136
38 PKD1 NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs)deletion Pathogenic 549710 rs1555452400 16:2155413-2155414 16:2105412-2105413
39 PKD1 NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)SNV Pathogenic 562262 rs2432403 16:2156600-2156600 16:2106599-2106599
40 LOC105371049 , PKD1 NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)deletion Pathogenic 562287 rs1567153758 16:2142080-2142080 16:2092079-2092079
41 PKD1 NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)SNV Pathogenic 562312 rs1567186165 16:2156561-2156561 16:2106560-2106560
42 PKD1 NM_001009944.3(PKD1):c.6725_6726CA[1] (p.Gln2243fs)short repeat Pathogenic 586288 rs1567191601 16:2158440-2158441 16:2108439-2108440
43 PKD1 NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)deletion Pathogenic 586262 rs1567210080 16:2164346-2164347 16:2114345-2114346
44 PKD1 NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs)deletion Pathogenic 599066 rs1567146946 16:2140509-2140513 16:2090508-2090512
45 PKD1 NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)duplication Pathogenic 599073 rs1567165997 16:2147943-2147944 16:2097942-2097943
46 PKD1 NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)SNV Pathogenic 599089 rs750780241 16:2152890-2152890 16:2102889-2102889
47 PKD1 NM_001009944.3(PKD1):c.3850del (p.Ala1284fs)deletion Pathogenic 599092 rs1567202350 16:2161318-2161318 16:2111317-2111317
48 PKD1 NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs)indel Pathogenic 599067 rs1567206904 16:2162879-2162879 16:2112878-2112878
49 PKD1 NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs)indel Pathogenic 599151 rs1567216323 16:2167519-2167528 16:2117518-2117527
50 PKD1 NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter)SNV Pathogenic 599102 rs1567219111 16:2168802-2168802 16:2118801-2118801

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

73 (show top 50) (show all 95)
# 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
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
38 PKD1 p.Pro2471Leu VAR_012456 rs116129862
39 PKD1 p.His2638Arg VAR_012462 rs9936785
40 PKD1 p.Leu2696Arg VAR_012464 rs201238819
41 PKD1 p.Arg2985Gly VAR_012467 rs373952574
42 PKD1 p.Arg3039Cys VAR_012468 rs200522524
43 PKD1 p.Val3285Ile VAR_012469 rs201780393
44 PKD1 p.Gly3560Arg VAR_012471 rs79000340
45 PKD1 p.Arg3247His VAR_013838 rs140791671
46 PKD1 p.Thr3382Met VAR_013839 rs776463508
47 PKD1 p.Gln164Arg VAR_058763
48 PKD1 p.Cys210Gly VAR_058764
49 PKD1 p.Gly381Cys VAR_058765
50 PKD1 p.Cys508Arg VAR_058766 rs58598099

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
12.31 TSC2 TSC1 MTOR ENPP1
2
Show member pathways
12.25 TSC2 TSC1 MTOR CFTR
3
Show member pathways
12.12 TSC2 TSC1 MTOR EGF
4
Show member pathways
11.86 TSC2 TSC1 MTOR CFTR
5
Show member pathways
11.72 PKD2 PKD1 NPHP3
6
Show member pathways
11.65 TSC2 TSC1 MTOR
7 11.58 PCSK2 HNF1B EGF CFTR
8 11.56 TSC2 TSC1 MTOR
9 11.36 TSC2 TSC1 MTOR
10 11.27 TSC2 TSC1 MTOR
11 11.06 TSC2 TSC1 MTOR
12 10.97 TSC2 TSC1 MTOR EGF
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 membrane GO:0016020 10.34 TSC2 TSC1 PRKD1 PKHD1 PKD2L1 PKD2
2 intracellular membrane-bounded organelle GO:0043231 9.95 TSC1 PRKCSH PKD2L1 PCSK2 MTOR HNF1B
3 basolateral plasma membrane GO:0016323 9.76 PKD2 PKD1 ENPP1 AQP2
4 cell projection GO:0042995 9.76 TSC1 PKHD1 PKD2L1 PKD2 PKD1 NPHP3
5 ciliary membrane GO:0060170 9.58 PKD2L1 PKD2 PKD1
6 non-motile cilium GO:0097730 9.54 PKD2L1 PKD2 IFT88
7 TSC1-TSC2 complex GO:0033596 9.32 TSC2 TSC1
8 polycystin complex GO:0002133 9.26 PKD2 PKD1
9 cilium GO:0005929 9.17 PKHD1 PKD2L1 PKD2 PKD1 NPHP3 INVS
10 cation channel complex GO:0034703 9.13 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 Wnt signaling pathway GO:0016055 9.84 PKD2 PKD1 NPHP3 INVS
2 protein homotetramerization GO:0051289 9.69 PKD2L1 PKD2 AQP2
3 negative regulation of insulin receptor signaling pathway GO:0046627 9.63 TSC2 TSC1 ENPP1
4 liver development GO:0001889 9.62 PRKCSH PKD2 PKD1 HNF1B
5 protein heterotetramerization GO:0051290 9.61 PKD2 PKD1
6 negative regulation of macroautophagy GO:0016242 9.61 TSC1 MTOR
7 spinal cord development GO:0021510 9.61 PKD2 PKD1 MTOR
8 placenta blood vessel development GO:0060674 9.6 PKD2 PKD1
9 kidney morphogenesis GO:0060993 9.59 NPHP3 HNF1B
10 anoikis GO:0043276 9.58 TSC2 MTOR
11 cytoplasmic sequestering of transcription factor GO:0042994 9.58 PKD2 PKD1
12 branching morphogenesis of an epithelial tube GO:0048754 9.58 PKD1 HNF1B EGF
13 regulation of calcium ion import GO:0090279 9.57 PKD2 EGF
14 metanephric collecting duct development GO:0072205 9.56 PKD1 AQP2
15 negative regulation of cell size GO:0045792 9.55 TSC1 MTOR
16 inorganic cation transmembrane transport GO:0098662 9.52 PKD2L1 PKD2
17 determination of liver left/right asymmetry GO:0071910 9.49 PKD2 NPHP3
18 metanephric ascending thin limb development GO:0072218 9.48 PKD2 PKD1
19 detection of mechanical stimulus GO:0050982 9.43 PKD2L1 PKD2 PKD1
20 cell-cell signaling by wnt GO:0198738 9.37 PKD2 PKD1
21 mesonephric tubule development GO:0072164 9.33 PKD2 PKD1 HNF1B
22 kidney development GO:0001822 9.17 TSC1 PKHD1 PKD2 PKD1 NPHP3 IFT88
23 mesonephric duct development GO:0072177 9.13 PKD2 PKD1 HNF1B

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 protein binding GO:0005515 9.6 TSC2 TSC1 PRKD1 PRKCSH PKHD1 PKD2L1
2 protein-containing complex binding GO:0044877 9.55 TSC1 PRKCSH PCSK2 MTOR HNF1B
3 calcium channel activity GO:0005262 9.43 PKD2L1 PKD2 PKD1
4 muscle alpha-actinin binding GO:0051371 9.37 PKD2L1 PKD2
5 alpha-actinin binding GO:0051393 9.32 PKD2L1 PKD2
6 phosphoprotein binding GO:0051219 9.13 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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