Autosomal Dominant Polycystic Kidney Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ADPKD MCID: ATS347 MIFTS: 68	Autosomal Dominant Polycystic Kidney Disease (ADPKD) Categories: Endocrine diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Autosomal Dominant Polycystic Kidney Disease

MalaCards integrated aliases for Autosomal Dominant Polycystic Kidney Disease:

IMPROVED

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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Nephrological diseases Reproductive diseases Endocrine diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

Cystic kidney disease

Polycystic kidney, autosomal dominant

Polycystic kidney, unspecified

ICD11: ³³

Diseases of the genitourinary system

Diseases of the urinary system

Cystic or dysplastic kidney disease

Autosomal dominant polycystic kidney disease

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

EFO ¹⁶ EFO_1001496

ICD11 ³³ 91220434

UMLS ⁷¹ C0022680 C0085413

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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

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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:

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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

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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

Candesartan cilexetil

Approved

Phase 4

145040-37-5

Curcumin

Approved, Investigational

Phase 4

458-37-7, 84765-67-3

969516

Pravastatin

Approved

Phase 4

81093-37-0

54687

Amiloride

Approved

Phase 4

17440-83-4, 2016-88-8, 2609-46-3

16231

Cilnidipine

Investigational

Phase 4

132203-70-4

2752 5282138

Candesartan

Experimental

Phase 4

139481-59-7

2541

Adrenergic Antagonists

Phase 4

Adrenergic alpha-Antagonists

Phase 4

Adrenergic Agents

Phase 4

Antirheumatic Agents

Phase 4

Anti-Inflammatory Agents, Non-Steroidal

Phase 4

Analgesics, Non-Narcotic

Phase 4

Analgesics

Phase 4

Lipid Regulating Agents

Phase 4

Antimetabolites

Phase 4

Anticholesteremic Agents

Phase 4

Hypolipidemic Agents

Phase 4

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 4

Sodium Channel Blockers

Phase 4

Diuretics, Potassium Sparing

Phase 4

Anti-Inflammatory Agents

Phase 4

Somatostatin

Approved, Investigational

Phase 2, Phase 3

38916-34-6, 51110-01-1

53481605 16129706

Octreotide

Approved, Investigational

Phase 3

83150-76-9

383414 6400441

Angiotensin II

Approved, Investigational

Phase 3

68521-88-0, 4474-91-3, 11128-99-7

172198

Lanreotide

Approved

Phase 3

108736-35-2

71349 6918011

Lactitol

Approved, Investigational

Phase 3

585-86-4, 585-88-6

157355 493591

Carbamide peroxide

Approved

Phase 2, Phase 3

124-43-6

Spironolactone

Approved

Phase 3

1952-01-7, 52-01-7

5833

Hydralazine

Approved

Phase 3

86-54-4

3637

Minoxidil

Approved, Investigational

Phase 3

38304-91-5

4201

Lisinopril

Approved, Investigational

Phase 3

83915-83-7, 76547-98-3

5362119

Metoprolol

Approved, Investigational

Phase 3

37350-58-6, 51384-51-1

4171

Telmisartan

Approved, Investigational

Phase 3

144701-48-4

65999

Clonidine

Approved

Phase 3

4205-91-8, 4205-90-7

2803 20179

Diltiazem

Approved, Investigational

Phase 3

42399-41-7

39186

Tolvaptan

Approved

Phase 3

150683-30-0

216237

Metformin

Approved

Phase 3

1115-70-4, 657-24-9

4091

Hydrochlorothiazide

Approved, Vet_approved

Phase 3

58-93-5

3639

Miconazole

Approved, Investigational, Vet_approved

Phase 2, Phase 3

22916-47-8

4189

Benzocaine

Approved, Investigational

Phase 2, Phase 3

1994-09-7, 94-09-7

2337

Sirolimus

Approved, Investigational

Phase 2, Phase 3

53123-88-9

5284616 6436030

Clotrimazole

Approved, Vet_approved

Phase 2, Phase 3

23593-75-1

2812

Tannic acid

Approved

Phase 2, Phase 3

1401-55-4

16129878 16129778

Everolimus

Approved

Phase 2, Phase 3

159351-69-6

70789204 6442177

Liver Extracts

Phase 2, Phase 3

Contraceptive Agents, Male

Phase 3

Contraceptive Agents

Phase 3

Antineoplastic Agents, Alkylating

Phase 3

Alkylating Agents

Phase 3

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

Sources

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

Sources

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

Sources

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	Durkie M...Ong ACM	33168999	2021
2	ALG9 Mutation Carriers Develop Kidney and Liver Cysts. ⁶² ²⁴ ⁵	Besse W...Mirshahi T	31395617	2019
3	Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies. ⁶² ²⁴ ⁵	Chebib FT...Torres VE	29270497	2017
4	Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. ⁶² ²⁴ ⁵	Audrezet MP...Heidet L	26139440	2016
5	Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. ⁶² ²⁴ ⁵	Gainullin VG...Harris PC	25574838	2015
6	Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. ⁶² ²⁴ ⁵	Trujillano D...Ars E	25333066	2014
7	Type of PKD1 mutation influences renal outcome in ADPKD. ⁶² ²⁴ ⁵	Cornec-Le Gall E...Le Meur Y	23431072	2013
8	Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. ⁶² ²⁴ ⁵	Hopp K...Harris PC	23064367	2012
9	Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. ⁶² ²⁴ ⁵	Audrezet MP...Ferec C	22508176	2012
10	Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. ⁶² ²⁴ ⁵	Vujic M...Harris PC	20558538	2010
11	Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. ⁶² ²⁴ ⁵	Rossetti S...Harris PC	19165178	2009
12	Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. ⁶² ²⁴ ⁵	Rossetti S...CRISP Consortium	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	Mantovani V...La Manna G	32457805	2020
14	Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing. ⁶² ⁵	Kim H...Ahn C	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	Mochizuki T...Nitta K	30989420	2019
16	Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD. ⁶² ⁵	Pandita S...Verma IC	30816285	2019
17	Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction. ⁶² ⁵	He WB...Du J	30333007	2018
18	Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. ⁶² ⁵	Xu D...Mei C	29529603	2018
19	Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. ⁶² ⁵	Mallawaarachchi AC...Furlong TJ	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	Carrera P...Ferrari M	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	Kinoshita M...Nutahara K	27835667	2016
22	Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. ⁶² ⁵	Liu B...Xu CM	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	Oka M...Kobayashi S	25149526	2014
24	Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. ⁶² ⁵	Obeidova L...Kohoutova M	24694054	2014
25	Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. ⁶² ⁵	Tan AY...Rennert H	24374109	2014
26	Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. ⁶² ⁵	Neumann HP...Else-Kroener-Fresenius-ADPKD-Registry	23300259	2013
27	Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. ⁶² ⁵	Robinson C...Sandford RN	22863349	2012
28	Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. ⁶² ⁵	Rossetti S...Harris PC	22383692	2012
29	Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease. ⁶² ⁵	Yu C...Zhang S	22185115	2011
30	High Resolution Melt analysis for mutation screening in PKD1 and PKD2. ⁶² ⁵	Bataille S...Burtey S	22008521	2011
31	Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). ⁶² ⁵	Hoefele J...Klein HG	21115670	2011
32	New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease. ⁶² ⁵	Stekrova J...Kohoutova M	19686598	2009
33	Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations. ⁶² ⁵	Zhao X...Pei Y	18077784	2008
34	Novel human pathological mutations. Gene symbol: PKD1. Disease: human autosomal dominant polycystic kidney disease. ⁶² ⁵	Li L	18350644	2007
35	Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. ⁶² ⁵	Garcia-Gonzalez MA...Watnick TJ	17574468	2007
36	Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. ⁶² ⁵	Peltola P...Laakso M	15772804	2005
37	[Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. ⁶² ⁵	Zhang DY...Mei CL	15192819	2004
38	Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. ⁶² ⁵	Rossetti S...Harris PC	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	Qian F...Germino GG	12482949	2002
40	Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. ⁶² ⁵	Inoue S...Koizumi A	12007219	2002
41	Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. ⁶² ⁵	Reiterova J...Zidovska J	11968093	2002
42	Polycystic Kidney Disease, Autosomal Dominant ⁶² ⁵	Harris PC...Torres VE	20301424	2002
43	Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. ⁶² ⁵	Rossetti S...Harris PC	11115377	2001
44	Thirteen novel mutations of the replicated region of PKD1 in an Asian population. ⁶² ⁵	Phakdeekitcharoen B...Germino GG	11012875	2000
45	Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. ⁶² ⁵	Wu G...Somlo S	10655152	2000
46	DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. ⁶² ⁵	Perrichot RA...Ferec C	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	Thomas R...Sandford R	10364515	1999
48	A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. ⁶² ⁵	Pei Y...St George-Hyslop P	9773786	1998
49	Gene conversion is a likely cause of mutation in PKD1. ⁶² ⁵	Watnick TJ...Germino GG	9668165	1998
50	Mutation detection in the repeated part of the PKD1 gene. ⁶² ⁵	Roelfsema JH...Breuning MH	9345095	1997

Sources

Genes for Autosomal Dominant Polycystic Kidney Disease

Genes related to Autosomal Dominant Polycystic Kidney Disease (12 elite genes):

(show top 50) (show all 137)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	916.33	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name Summaries (show sections)	7581371 8004675 8554072 (more) 8792818 8845849 8911610 9199561 9345095 9668165 10364515 10655152 10987650 11012875 11115377 11571556 12007219 12482949 12842373 15772804 17574468 17582161 18077784 18350644 19686598 21115670 22008521 22185115 22508176 23064367 23431072 24694054 25333066 26632257 26938784 27165007 27499327 27835667 29270497 30192042 30333007 30989420 31740684 32939031 33532864 34008892 9192675 22383692 25574838 30816285 20301424
2	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	826.63	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	9326320 9773786 11968093 (more) 15192819 15772804 16199547 16540757 17582161 21115670 22008521 22185115 22508176 22863349 23300259 25149526 25333066 25574838 27499327 29529603 31740684 33532864 20301424
3	GANAB	Glucosidase II Alpha Subunit	Protein Coding	765.31	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	27259053
4	ALG9	ALG9 Alpha-1,2-Mannosyltransferase	Protein Coding	755.72	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	31395617
5	MIR6511B1	MicroRNA 6511b-1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵
6	PKD1-AS1	PKD1 Antisense RNA 1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	8554072 8845849 15772804 (more) 18350644 22185115 26938784 29270497 30333007 30989420 32939031 33532864
7	TSC2	TSC Complex Subunit 2	Protein Coding	415.18	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	PKHD1	PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin	Protein Coding	408.48	Pathogenic ⁵ DISEASES inferred ¹⁴
9	MIR1225	MicroRNA 1225	RNA Gene	403.1	Pathogenic ⁵ DISEASES inferred ¹⁴
10	DNAJB11	DnaJ Heat Shock Protein Family (Hsp40) Member B11	Protein Coding	364.91	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	29706351
11	IFT140	Intraflagellar Transport 140	Protein Coding	355.75	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	34890546
12	BICC1	BicC Family RNA Binding Protein 1	Protein Coding	30.34	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	21922595
13	TNF	Tumor Necrosis Factor	Protein Coding	22.71	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
14	PKD1P1	Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 1	Pseudogene	14.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	HNF1B	HNF1 Homeobox B	Protein Coding	13.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	LRP5	LDL Receptor Related Protein 5	Protein Coding	13.25	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
17	PDK2	Pyruvate Dehydrogenase Kinase 2	Protein Coding	13.05	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	HAX1	HCLS1 Associated Protein X-1	Protein Coding	12.94	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
19	PRKD1	Protein Kinase D1	Protein Coding	8.7	DISEASES inferred ¹⁴
20	MXRA5	Matrix Remodeling Associated 5	Protein Coding	8.36	GeneCards inferred via : Expressions (show sections)
21	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	8.06	DISEASES inferred ¹⁴
22	PKD1P2	Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 2	Pseudogene	7.87	GeneCards inferred via : Publications (show sections)
23	PKD1P3	Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 3	Pseudogene	7.87	GeneCards inferred via : Publications (show sections)
24	PKD2L1	Polycystin 2 Like 1, Transient Receptor Potential Cation Channel	Protein Coding	7.7	DISEASES inferred ¹⁴
25	PRKCSH	Protein Kinase C Substrate 80K-H	Protein Coding	7.55	DISEASES inferred ¹⁴
26	PKD1P4	Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 4	Pseudogene	7.53	GeneCards inferred via : Publications (show sections)
27	PKD1P5	Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 5	Pseudogene	7.53	GeneCards inferred via : Publications (show sections)
28	PKD1P6	Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 6	Pseudogene	7.53	GeneCards inferred via : Publications (show sections)
29	PKD1P6-NPIPP1	PKD1P6-NPIPP1 Readthrough	Pseudogene	7.53	GeneCards inferred via : Publications (show sections)
30	SEC63	SEC63 Homolog, Protein Translocation Regulator	Protein Coding	7.48	DISEASES inferred ¹⁴
31	AQP2	Aquaporin 2	Protein Coding	7.04	DISEASES inferred ¹⁴
32	PKD1L3	Polycystin 1 Like 3, Transient Receptor Potential Channel Interacting	Protein Coding	6.92	DISEASES inferred ¹⁴
33	MIR199A1	MicroRNA 199a-1	RNA Gene	6.83	DISEASES inferred ¹⁴ ¹⁴
34	PKD1L1	Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting	Protein Coding	6.82	DISEASES inferred ¹⁴
35	REN	Renin	Protein Coding	6.78	DISEASES inferred ¹⁴
36	PKD2L2	Polycystin 2 Like 2, Transient Receptor Potential Cation Channel	Protein Coding	6.75	DISEASES inferred ¹⁴
37	IFT88	Intraflagellar Transport 88	Protein Coding	6.67	DISEASES inferred ¹⁴
38	AVP	Arginine Vasopressin	Protein Coding	6.61	DISEASES inferred ¹⁴
39	UMOD	Uromodulin	Protein Coding	6.56	DISEASES inferred ¹⁴
40	PKDREJ	Polycystin Family Receptor For Egg Jelly	Protein Coding	6.55	DISEASES inferred ¹⁴
41	DZIP1L	DAZ Interacting Zinc Finger Protein 1 Like	Protein Coding	6.54	DISEASES inferred ¹⁴
42	KIF3A	Kinesin Family Member 3A	Protein Coding	6.54	DISEASES inferred ¹⁴
43	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	6.47	DISEASES inferred ¹⁴
44	ALG8	ALG8 Alpha-1,3-Glucosyltransferase	Protein Coding	6.46	DISEASES inferred ¹⁴
45	INVS	Inversin	Protein Coding	6.43	DISEASES inferred ¹⁴
46	PKD1L2	Polycystin 1 Like 2 (Gene/Pseudogene)	Protein Coding	6.4	DISEASES inferred ¹⁴
47	SEC61B	SEC61 Translocon Subunit Beta	Protein Coding	6.39	DISEASES inferred ¹⁴
48	ALB	Albumin	Protein Coding	6.39	DISEASES inferred ¹⁴
49	ADCY6	Adenylate Cyclase 6	Protein Coding	6.38	DISEASES inferred ¹⁴
50	SST	Somatostatin	Protein Coding	6.36	DISEASES inferred ¹⁴

Sources

Variations for Autosomal Dominant Polycystic Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Polycystic Kidney Disease:

IMPROVED

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

Sources

Expression for Autosomal Dominant Polycystic Kidney Disease

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

Sources

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	MicroRNAs in cardiomyocyte hypertrophy ⁷⁴ Show member pathways Cardiac hypertrophic response ⁷⁴	11.6	TNF PRKD1 LRP5
2	mTOR Signaling ⁶⁵	11.47	TSC2 TNF LRP5
3	Ciliopathies ⁷⁴	11.18	PKHD1 PKD2 PKD1
4	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.06	PKHD1 PKD2 PKD1 IFT140

Sources

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