MCID: PLY139
MIFTS: 40

Polycystic Kidney Disease 3

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Polycystic Kidney Disease 3

MalaCards integrated aliases for Polycystic Kidney Disease 3:

Name: Polycystic Kidney Disease 3 54 12 71 29 14
Polycystic Kidney Disease, Adult, Type Iii 12 71
Apkd3 12 71
Pkd3 12 71
Polycystic Kidney Disease 3, Autosomal Dominant 69

Characteristics:

OMIM:

54
Miscellaneous:
renal disease is typically mild
onset usually in mid- to late-adulthood
highly variable severity

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 600666
Disease Ontology 12 DOID:0110860
MeSH 42 D007690
SNOMED-CT via HPO 65 82525005

Summaries for Polycystic Kidney Disease 3

OMIM : 54
Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by Porath et al., 2016). For a discussion of genetic heterogeneity of PKD, see PKD1 (173900). (600666)

MalaCards based summary : Polycystic Kidney Disease 3, also known as polycystic kidney disease, adult, type iii, is related to autosomal dominant polycystic kidney disease and polycystic kidney disease, and has symptoms including polycystic kidney dysplasia An important gene associated with Polycystic Kidney Disease 3 is GANAB (Glucosidase II Alpha Subunit). The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are Decreased cell migration and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance

Disease Ontology : 12 A autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.

UniProtKB/Swiss-Prot : 71 Polycystic kidney disease 3: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant.

Related Diseases for Polycystic Kidney Disease 3

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 5 Polycystic Kidney Disease 2
Polycystic Kidney Disease 3 Polycystic Kidney Disease 1
Autosomal Dominant Polycystic Kidney Disease Polycystic Kidney Disease 1, Autosomal Dominant
Polycystic Kidney Disease 2, Autosomal Dominant

Diseases related to Polycystic Kidney Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant polycystic kidney disease 11.0
2 polycystic kidney disease 11.0
3 polycyctic kidney disease 3 10.8
4 polycystic kidney disease 2 10.8
5 polycystic kidney disease 4, with or without hepatic disease 10.8
6 smith-mccort dysplasia 2 10.3 PKD1 PKD2
7 macular dystrophy, patterned, 3 10.2 PKD1 PKD2
8 thyroid dyshormonogenesis 1 10.1 PKD1 PKD2
9 charcot-marie-tooth disease, type 1c 10.1 PKD1 PKD2
10 lacrimal gland adenocarcinoma 10.0 PKD1 PKD2
11 exocrine pancreatic insufficiency 9.9 ANKS6 PKD1
12 calcinosis 9.8 PKDREJ TRPV1
13 mental retardation, autosomal recessive 24 9.8 PKD1 PKD2 PKDREJ
14 lymphoplasmacytic lymphoma 9.8 PKD1 PKD2 PKDREJ
15 cervix uteri carcinoma in situ 9.7 PKD1 PKD2 PKDREJ
16 inhibited male orgasm 9.7 PKD1 PKD2 PKDREJ
17 cerebral atherosclerosis 9.6 ANKS6 PKD1 PKD2
18 x-linked sideroblastic anemia with ataxia 9.6 PKD2 PKDREJ
19 48, xxxx 9.4 GANAB PKD1 PKD2 PKDREJ
20 autism 19 9.4 PKD1 PKD2 PKDREJ TRPV1
21 spastic ataxia 1 9.0 GANAB PKD1 PKD2 PKDREJ TRPV1
22 neuropathy, hereditary sensory, type if 7.1 ANKS6 GANAB GIT1 PKD1 PKD2 PKDREJ

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 3:



Diseases related to Polycystic Kidney Disease 3

Symptoms & Phenotypes for Polycystic Kidney Disease 3

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
renal dysfunction (in some patients)
renal cysts

Cardiovascular- Vascular:
intracranial aneurysm (1 family)
hypertension (in some patients)

Abdomen- Liver:
liver dysfunction (in some patients)
liver cysts


Clinical features from OMIM:

600666

Human phenotypes related to Polycystic Kidney Disease 3:

32
id Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 32 HP:0000113

GenomeRNAi Phenotypes related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.13 GIT1 PKD1 PKD2
2 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.8 GIT1 PKD1 PKD2

Drugs & Therapeutics for Polycystic Kidney Disease 3

Drugs for Polycystic Kidney Disease 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 78)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
6 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
7 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
9
Tolvaptan Approved Phase 3,Phase 2 150683-30-0 216237
10
Octreotide Approved, Investigational Phase 3,Phase 2 83150-76-9 383414 6400441
11
Somatostatin Approved Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
12
Pravastatin Approved Phase 3 81093-37-0 54687
13
Clonidine Approved Phase 3 4205-90-7 2803
14
Diltiazem Approved Phase 3 42399-41-7 39186
15
Hydralazine Approved Phase 3 86-54-4 3637
16
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
17
Lisinopril Approved, Investigational Phase 3 83915-83-7, 76547-98-3 5362119
18
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
19
Minoxidil Approved Phase 3 38304-91-5 4201
20
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
21 lanreotide Approved Phase 2, Phase 3 108736-35-2
22
Benzocaine Approved Phase 2, Phase 3 1994-09-7, 94-09-7 2337
23 tannic acid Approved, Nutraceutical Phase 2, Phase 3
24 Triptolide Investigational Phase 3 38748-32-2
25
Lactitol Investigational Phase 3 585-86-4 3871
26
Angiotensin II Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
27 Alkylating Agents Phase 3
28 Contraceptive Agents Phase 3
29 Contraceptive Agents, Male Phase 3
30 Liver Extracts Phase 2, Phase 3
31 Arginine Vasopressin Phase 3,Phase 2
32 Hormones Phase 3,Phase 2
33 Natriuretic Agents Phase 3,Phase 2
34 Vasopressins Phase 3,Phase 2
35 Hormone Antagonists Phase 3,Phase 2
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
37 Pharmaceutical Solutions Phase 3
38 Anticholesteremic Agents Phase 3
39 Antimetabolites Phase 3,Phase 2
40 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
41 Hypolipidemic Agents Phase 3,Phase 2
42 Lipid Regulating Agents Phase 3,Phase 2
43 Angiotensin II Type 1 Receptor Blockers Phase 3
44 Angiotensin Receptor Antagonists Phase 3
45 Angiotensin-Converting Enzyme Inhibitors Phase 3
46 Angiotensinogen Phase 3
47 Antihypertensive Agents Phase 3,Phase 2
48 calcium channel blockers Phase 3
49 Calcium, Dietary Phase 3
50 diuretics Phase 3

Interventional clinical trials:

(show all 46)

id Name Status NCT ID Phase Drugs
1 Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00414440 Phase 4 Placebo;Everolimus
2 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
3 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3 Sirolimus
4 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
5 Efficacy and Safety of Tolvaptan 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
6 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
7 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
8 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3 Lisinopril;Telmisartan;Placebo
9 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
10 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
11 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3 Octeotride;Placebo
12 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
13 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3 Sirolimus
14 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3 Lisinopril;Telmisartan;Placebo
15 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
16 A 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
17 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
18 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
19 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3 Tolvaptan
20 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
21 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
22 Lanreotide In Polycystic Kidney Disease Study Recruiting NCT02127437 Phase 3 Lanreotide;saline
23 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Recruiting NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
24 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02251275 Phase 3 Tolvaptan (OPC-41061)
25 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Active, not recruiting NCT01377246 Phase 3 Octreotide-LAR
26 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
27 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
28 Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD): The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
29 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
30 Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00286156 Phase 1, Phase 2 Rapamune
31 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
32 Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01336972 Phase 2 Tolvaptan
33 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
34 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
35 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Recruiting NCT02558595 Phase 2
36 A Safety, Pharmacokinetic and Dose-Escalation Study of KD019 in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT01559363 Phase 1, Phase 2 KD019 (tesevatinib)
37 A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Recruiting NCT03096080 Phase 1 Tesevatinib
38 The Vienna RAP Pilot Study Completed NCT01632605 Sirolimus
39 Effect of Water Intake and Water Restriction on Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease Completed NCT02776241
40 Efficacy Study of Water Drinking on PKD Progression. Completed NCT01348035
41 Observational Study in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT01430494
42 PKD Clinical and Translational Core Study Recruiting NCT01873235
43 Post-Marketing Surveillance Study of Tolvaptan in Patients With ADPKD Recruiting NCT02847624 tolvaptan
44 Efficacy of Tolvaptan on ADPKD Patients Recruiting NCT02729662 Tolvaptan
45 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
46 Pioglitazone and Lumbar Bone Marrow Fat in Chronic Kidney Disease Active, not recruiting NCT02739750

Search NIH Clinical Center for Polycystic Kidney Disease 3

Genetic Tests for Polycystic Kidney Disease 3

Genetic tests related to Polycystic Kidney Disease 3:

id Genetic test Affiliating Genes
1 Polycystic Kidney Disease 3 29

Anatomical Context for Polycystic Kidney Disease 3

MalaCards organs/tissues related to Polycystic Kidney Disease 3:

39
Kidney, Liver, Bone, Heart, Bone Marrow

Publications for Polycystic Kidney Disease 3

Variations for Polycystic Kidney Disease 3

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 3:

71
id Symbol AA change Variation ID SNP ID
1 GANAB p.Thr383Arg VAR_077090 rs879255642
2 GANAB p.Arg400Leu VAR_077091
3 GANAB p.Arg817Trp VAR_077092 rs879255643

ClinVar genetic disease variations for Polycystic Kidney Disease 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GANAB NM_198335.3(GANAB): c.1265G> T (p.Arg422Leu) single nucleotide variant Pathogenic rs770519542 GRCh38 Chromosome 11, 62630788: 62630788
2 GANAB NM_198335.3(GANAB): c.1914_1915delAG (p.Asp640Glnfs) deletion Pathogenic rs879255641 GRCh38 Chromosome 11, 62629281: 62629282
3 GANAB NM_198335.3(GANAB): c.1214C> G (p.Thr405Arg) single nucleotide variant Pathogenic rs879255642 GRCh38 Chromosome 11, 62631032: 62631032
4 GANAB NM_198335.3(GANAB): c.2690+2_2690+7del deletion Pathogenic rs886037848 GRCh38 Chromosome 11, 62626328: 62626333
5 GANAB NM_198335.3(GANAB): c.2515C> T (p.Arg839Trp) single nucleotide variant Pathogenic rs879255643 GRCh37 Chromosome 11, 62394105: 62394105
6 GANAB NM_198334.2(GANAB): c.152_153delGA (p.Arg51Lysfs) deletion Pathogenic rs752158933 GRCh37 Chromosome 11, 62406930: 62406931

Expression for Polycystic Kidney Disease 3

Search GEO for disease gene expression data for Polycystic Kidney Disease 3.

Pathways for Polycystic Kidney Disease 3

GO Terms for Polycystic Kidney Disease 3

Cellular components related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.35 ANKS6 PKD1 PKD2 SSH1 TRPV1
2 cilium GO:0005929 9.33 ANKS6 PKD1 PKD2
3 motile cilium GO:0031514 9.32 PKD1 PKD2
4 ciliary membrane GO:0060170 9.26 PKD1 PKD2
5 polycystin complex GO:0002133 8.62 PKD1 PKD2

Biological processes related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.67 PKD1 PKD2 TRPV1
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.65 PKD1 PKD2 TRPV1
3 liver development GO:0001889 9.59 PKD1 PKD2
4 protein homotetramerization GO:0051289 9.58 PKD2 TRPV1
5 neural tube development GO:0021915 9.58 PKD1 PKD2
6 positive regulation of nitric oxide biosynthetic process GO:0045429 9.57 PKD2 TRPV1
7 release of sequestered calcium ion into cytosol GO:0051209 9.56 PKD2 TRPV1
8 spinal cord development GO:0021510 9.55 PKD1 PKD2
9 JAK-STAT cascade GO:0007259 9.54 PKD1 PKD2
10 embryonic placenta development GO:0001892 9.52 PKD1 PKD2
11 renal system development GO:0072001 9.51 PKD1 PKD2
12 cellular response to ATP GO:0071318 9.46 SSH1 TRPV1
13 cytoplasmic sequestering of transcription factor GO:0042994 9.43 PKD1 PKD2
14 placenta blood vessel development GO:0060674 9.4 PKD1 PKD2
15 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.37 PKD1 PKD2
16 mesonephric tubule development GO:0072164 9.32 PKD1 PKD2
17 mesonephric duct development GO:0072177 9.26 PKD1 PKD2
18 calcium ion transmembrane transport GO:0070588 9.26 PKD1 PKD2 PKDREJ TRPV1
19 metanephric ascending thin limb development GO:0072218 9.16 PKD1 PKD2
20 detection of mechanical stimulus GO:0050982 8.8 PKD1 PKD2 PKDREJ

Molecular functions related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphoprotein binding GO:0051219 8.96 PKD2 TRPV1
2 calcium channel activity GO:0005262 8.92 PKD1 PKD2 PKDREJ TRPV1

Sources for Polycystic Kidney Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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