MCID: CYS039
MIFTS: 52

Cystic Kidney Disease malady

Categories: Nephrological diseases

Aliases & Classifications for Cystic Kidney Disease

Aliases & Descriptions for Cystic Kidney Disease:

Name: Cystic Kidney Disease 12 52 14
Renal Cyst 12 29 52 69
Congenital Cystic Kidney Disease 69
Kidney Diseases, Cystic 42
Cystic Kidney Diseases 69
Simple Renal Cyst 69
Cystic Kidney 69
Kidney Cysts 41
Kidney Cyst 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2975
MeSH 42 D052177
ICD10 33 Q61
UMLS 69 C0022679

Summaries for Cystic Kidney Disease

MedlinePlus : 41 a cyst is a fluid-filled sac. you may get simple kidney cysts as you age; they are usually harmless. there are also some diseases which cause kidney cysts. one type is polycystic kidney disease (pkd). it runs in families. in pkd, many cysts grow in the kidneys. this can enlarge the kidneys and make them work poorly. about half of people with the most common type of pkd end up with kidney failure. pkd also causes cysts in other parts of the body, such as the liver. often, there are no symptoms at first. later, symptoms include pain in the back and lower sides headaches blood in the urine doctors diagnose pkd with imaging tests and family history. there is no cure. treatments can help with symptoms and complications. they include medicines and lifestyle changes, and if there is kidney failure, dialysis or kidney transplants. acquired cystic kidney disease (ackd) happens in people who have chronic kidney disease, especially if they are on dialysis. unlike pkd, the kidneys are normal sized, and cysts do not form in other parts of the body. ackd often has no symptoms. usually, the cysts are harmless and do not need treatment. if they do cause complications, treatments include medicines, draining the cysts, or surgery. nih: national institute of diabetes and digestive and kidney diseases

MalaCards based summary : Cystic Kidney Disease, also known as renal cyst, is related to nephronophthisis 4 and senior-loken syndrome-1. An important gene associated with Cystic Kidney Disease is UMOD (Uromodulin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Candesartan and Cilnidipine have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and testes, 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

Wikipedia : 71 Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions. With... more...

Related Diseases for Cystic Kidney Disease

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

(show top 50) (show all 90)
id Related Disease Score Top Affiliating Genes
1 nephronophthisis 4 29.8 NPHP1 NPHP3 NPHP4
2 senior-loken syndrome-1 29.7 INVS NPHP1 NPHP3 NPHP4 PKD1
3 medullary cystic kidney disease 2 12.4
4 medullary cystic kidney disease 1 12.4
5 renal cysts and diabetes syndrome 12.4
6 autosomal dominant medullary cystic kidney disease with hyperuricemia 12.3
7 autosomal dominant medullary cystic kidney disease without hyperuricemia 12.3
8 ventriculomegaly with cystic kidney disease 12.3
9 nephronophthisis 12.0
10 multiloculated renal cyst 12.0
11 hepatic fibrosis renal cysts mental retardation 11.8
12 familial juvenile hyperuricaemic nephropathy 11.4
13 autosomal dominant polycystic kidney disease 11.3
14 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.3
15 medullary sponge kidney 11.2
16 autosomal dominant tubulointerstitial kidney disease, umod-related 11.0
17 nephronophthisis-like nephropathy 1 10.9
18 potter's syndrome 10.7
19 hyperuricemic nephropathy, familial juvenile 1 10.7
20 nephronophthisis 1, juvenile 10.7
21 kidney disease 10.7
22 polycystic liver disease 10.7
23 papillorenal syndrome 10.7
24 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.7
25 nephronophthisis 9 10.7
26 hyperparathyroidism-jaw tumor syndrome 10.7
27 von hippel-lindau syndrome 10.7
28 polycystic kidney and hepatic disease 10.2
29 spermatogenic failure 10 10.2 PKD1 TSC2
30 chromosome 18p tetrasomy 10.2 PKD1 TSC2
31 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.1 PKD1 PKHD1
32 renal cell carcinoma 10.1
33 dicer1-related disorders 10.1 PKD1 PKHD1
34 holoprosencephaly 8 10.1 PKD1 PKD2
35 meckel syndrome 7 10.1
36 meckel syndrome 1 10.1
37 renal dysplasia 10.1
38 1q21.1 recurrent microdeletion 10.1 PKD1 PKD2 PKHD1
39 focal cortical dysplasia, taylor balloon cell type 10.1 PKD1 PKHD1 TSC2
40 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.0 HNF1B MUC1 NPHP1 UMOD
41 sebaceous adenoma 10.0 MUC1 TSC2
42 orofacial cleft 4 10.0 PKD1 PKD2 PKHD1
43 gaucher disease, atypical 10.0 INVS NPHP3
44 peritonitis 10.0
45 chronic myocardial ischemia 9.9 INVS NPHP1 PKD1 UMOD
46 renal dysplasia, unilateral 9.9
47 renal dysplasia, bilateral 9.9
48 unilateral multicystic dysplastic kidney 9.9
49 bilateral multicystic dysplastic kidney 9.9
50 nephronophthisis 2, infantile 9.9

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



Diseases related to Cystic Kidney Disease

Symptoms & Phenotypes for Cystic Kidney Disease

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.26 PKD1 PKD2 MUC1 NEK8
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 8.92 MUC1 NEK8 PKD1 PKD2

MGI Mouse Phenotypes related to Cystic Kidney Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 CRB2 INVS NPHP1 NPHP3 NPHP4 PKD1
2 cardiovascular system MP:0005385 10.11 CRB2 INVS NEK8 NPHP3 NPHP4 PKD1
3 growth/size/body region MP:0005378 10 CRB2 EGF HNF1B INVS NEK8 NPHP3
4 endocrine/exocrine gland MP:0005379 9.92 EGF HNF1B INVS NPHP1 PKD1 PKD2
5 embryo MP:0005380 9.91 CRB2 HNF1B INVS NPHP3 PKD1 PKD2
6 digestive/alimentary MP:0005381 9.88 CRB2 EGF INVS PKD1 PKD2 PKHD1
7 immune system MP:0005387 9.76 EGF HNF1B INVS NPHP3 PKD1 PKD2
8 liver/biliary system MP:0005370 9.43 PKD2 PKHD1 TSC2 HNF1B INVS PKD1
9 renal/urinary system MP:0005367 9.36 NEK8 NPHP1 NPHP3 NPHP4 PKD1 PKD2

Drugs & Therapeutics for Cystic Kidney Disease

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

(show top 50) (show all 261)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan Approved Phase 4,Phase 2 139481-59-7 2541
2
Cilnidipine Approved Phase 4,Phase 2 132203-70-4 5282138
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
6
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 2 32986-56-4 5496 36294
7
Tazobactam Approved Phase 4 89786-04-9 123630
8
Colistin Approved Phase 4 1264-72-8, 1066-17-7 5311054
9 Adrenergic Agents Phase 4
10 Adrenergic alpha-Antagonists Phase 4
11 Adrenergic Antagonists Phase 4
12
Angiotensin II Phase 4,Phase 3,Phase 2 68521-88-0, 11128-99-7 65143 172198
13 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
14 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
15 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
16 Angiotensinogen Phase 4,Phase 3,Phase 2
17 Antihypertensive Agents Phase 4,Phase 3,Phase 2
18 calcium channel blockers Phase 4,Phase 3,Phase 2
19 Calcium, Dietary Phase 4,Phase 3,Phase 2
20
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
21 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
23 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
26 beta-Lactamase Inhibitors Phase 4
27 Ceftolozane, tazobactam drug combination Phase 4
28 Cephalosporins Phase 4
29 Penicillanic Acid Phase 4
30 Renal Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Analgesics Phase 4,Phase 3
32 Analgesics, Non-Narcotic Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Anti-Inflammatory Agents, Non-Steroidal Phase 4
35 Antirheumatic Agents Phase 4
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
37
Curcumin Phase 4 458-37-7 969516
38
lanreotide Approved Phase 2, Phase 3 108736-35-2
39
Pravastatin Approved Phase 3 81093-37-0 54687
40
Lisinopril Approved, Investigational Phase 3 83915-83-7 5362119
41
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
42
Clonidine Approved Phase 3 4205-90-7 2803
43
Diltiazem Approved Phase 3 42399-41-7 39186
44
Hydralazine Approved Phase 3 86-54-4 3637
45
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
46
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
47
Minoxidil Approved Phase 3 38304-91-5 4201
48
Octreotide Approved, Investigational Phase 3,Phase 2 83150-76-9 383414 6400441
49
Somatostatin Approved Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
50
Tolvaptan Approved Phase 3,Phase 2 150683-30-0 216237

Interventional clinical trials:

(show top 50) (show all 192)
id Name Status NCT ID Phase
1 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4
2 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
3 Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00414440 Phase 4
4 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis Completed NCT01207245 Phase 4
5 Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients Completed NCT02421120 Phase 4
6 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4
7 A Clinical Study on the Efficacy and Safety of the Treatment of Hyperplasia of Mammary Glands With Xiaoru Sanjie Capsule Recruiting NCT02929420 Phase 4
8 IV Colistin for Pulmonary Exacerbations: Improving Safety and Efficacy Recruiting NCT02918409 Phase 4
9 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3
10 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3
11 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3
12 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3
13 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3
14 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3
15 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3
16 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3
17 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
18 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3
19 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
20 Tolvaptan Phase 3 Efficacy and Safety Study in ADPKD Completed NCT00428948 Phase 3
21 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
22 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3
23 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3
24 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3
25 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3
26 Diabetes Therapy to Improve BMI and Lung Function in CF Completed NCT00072904 Phase 3
27 Behavioral Treatment of Weight Gain in CF Completed NCT00006169 Phase 3
28 Behavioral & Nutritional Treatment to Help CF Preschoolers Grow Completed NCT00241969 Phase 3
29 The Effects of Tualang Honey on Postmenopausal Women Completed NCT01300676 Phase 2, Phase 3
30 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
31 MP-376 (Aeroquinâ„¢, Levofloxacin for Inhalation) in Patients With Cystic Fibrosis Completed NCT01180634 Phase 3
32 Trial of Aeroquin Versus Tobramycin Inhalation Solution (TIS) in Cystic Fibrosis (CF) Patients Completed NCT01270347 Phase 3
33 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
34 Lanreotide In Polycystic Kidney Disease Study Recruiting NCT02127437 Phase 3
35 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Recruiting NCT02134899 Phase 3
36 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3
37 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3
38 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Active, not recruiting NCT01377246 Phase 3
39 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3
40 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 Active, not recruiting NCT02160145 Phase 3
41 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Enrolling by invitation NCT02251275 Phase 3
42 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3
43 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
44 Everolimus on CKD Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3
45 Docetaxel and St. John's Wort in Treating Patients With Solid Tumors That Cannot Be Removed By Surgery Withdrawn NCT00041171 Phase 3
46 Autosomal Dominant Polycystic Kidney Disease (ADPKD) Pain Study Unknown status NCT00571909 Phase 2
47 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2
48 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2
49 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2
50 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2

Search NIH Clinical Center for Cystic Kidney Disease

Cochrane evidence based reviews: kidney diseases, cystic

Genetic Tests for Cystic Kidney Disease

Genetic tests related to Cystic Kidney Disease:

id Genetic test Affiliating Genes
1 Renal Cyst 29

Anatomical Context for Cystic Kidney Disease

MalaCards organs/tissues related to Cystic Kidney Disease:

39
Kidney, Liver, Testes, Heart, Bone, Bone Marrow

Publications for Cystic Kidney Disease

Articles related to Cystic Kidney Disease:

(show top 50) (show all 181)
id Title Authors Year
1
Soy Protein Alleviates Hypertension and Fish Oil Improves Diastolic Heart Function in the Han:SPRD-Cy Rat Model of Cystic Kidney Disease. ( 26626478 )
2016
2
Rapidly Progressive Renal Dysfunction in Two Elderly Patients with Renal Enlargement and Medullary Cystic Kidney Disease-like Acute Tubulointerstitial Injury. ( 27746439 )
2016
3
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease. ( 27181777 )
2016
4
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. ( 26862157 )
2016
5
Cystic kidney disease: mTORC1-PC-1 crosstalk in TSC. ( 26996330 )
2016
6
Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function. ( 26542298 )
2015
7
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. ( 25818408 )
2015
8
MicroRNAs in the pathogenesis of cystic kidney disease. ( 25490692 )
2015
9
Spontaneous retroperitoneal hemorrhage presenting as hemoperitoneum secondary to renal cyst rupture in a peritoneal dialysis patient with acquired cystic kidney disease. ( 26199480 )
2015
10
Cystic kidney disease: a primer. ( 26088074 )
2015
11
The role of cilia in the pathogenesis of cystic kidney disease. ( 25575298 )
2015
12
Cystic kidney disease: Intracellular clusterin implicated in nephropathic cystinosis. ( 25112440 )
2014
13
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. ( 24509297 )
2014
14
Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt. ( 24655010 )
2014
15
An approach to cystic kidney diseases: the clinician's view. ( 25266212 )
2014
16
An unusual case of familial cystic kidney disease. ( 25878781 )
2014
17
Filling the holes in cystic kidney disease research. ( 24903391 )
2014
18
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. ( 23396133 )
2013
19
Pilot study of non-contrast-enhanced MRI vs. ultrasound in renal transplant recipients with acquired cystic kidney disease: a prospective intra-individual comparison. ( 24118352 )
2013
20
Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease. ( 24009236 )
2013
21
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. ( 24257694 )
2013
22
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. ( 23569556 )
2013
23
Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use. ( 23796907 )
2013
24
Cystic kidney diseases: many ways to form a cyst. ( 22736301 )
2013
25
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. ( 23475468 )
2013
26
Microtubule modifications and stability are altered by cilia perturbation and in cystic kidney disease. ( 23124988 )
2013
27
Cell polarity and cystic kidney disease. ( 23161205 )
2013
28
Contrast-enhanced ultrasound assessment of complex cystic lesions in renal transplant recipients with acquired cystic kidney disease: preliminary experience. ( 22974874 )
2012
29
Renal-cell carcinomas in end-stage kidneys: a clinicopathological study with emphasis on clear-cell papillary renal-cell carcinoma and acquired cystic kidney disease-associated carcinoma. ( 21791489 )
2012
30
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. ( 22106379 )
2012
31
ESPR Uroradiology Task Force and ESUR Paediatric Working Group--Imaging recommendations in paediatric uroradiology, part V: childhood cystic kidney disease, childhood renal transplantation and contrast-enhanced ultrasonography in children. ( 23001574 )
2012
32
Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases. ( 21670265 )
2011
33
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. ( 21199495 )
2011
34
Bilateral multiple cystic kidney disease and renal cortical abscess in a Boerboel. ( 22135926 )
2011
35
Juvenile nephropathy in a Boxer dog resembling the human nephronophthisis-medullary cystic kidney disease complex. ( 21836389 )
2011
36
Renal cell carcinoma in acquired cystic kidney disease. ( 20459539 )
2010
37
Evaluation of acquired cystic kidney disease in patients on hemodialysis with ultrasonography. ( 20622311 )
2010
38
The diagnostic value of ultrasound in cystic kidney diseases. ( 18810502 )
2010
39
Lights on for aminopeptidases in cystic kidney disease. ( 20179346 )
2010
40
Prevalence and pattern of cystic kidney diseases in Ilorin, Nigeria. ( 21060202 )
2010
41
Renal CD14 expression correlates with the progression of cystic kidney disease. ( 20555320 )
2010
42
Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. ( 20150540 )
2010
43
Cystic kidney disease: the role of Wnt signaling. ( 20576469 )
2010
44
Prolonged treatment of chronic renal insufficiency, acquired cystic kidney disease, simultaneous precancerous lesions and multiple tumors of left kidney. ( 21309266 )
2010
45
Long-term online hemodiafiltration does not reduce the frequency and severity of acquired cystic kidney disease in hemodialysis patients. ( 19839850 )
2009
46
Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cells. ( 19145237 )
2009
47
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. ( 19303681 )
2009
48
Cystic kidney diseases and planar cell polarity signaling. ( 19215242 )
2009
49
Clinical manifestations of hereditary cystic kidney disease. ( 18508505 )
2008
50
Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease. ( 18981227 )
2008

Variations for Cystic Kidney Disease

ClinVar genetic disease variations for Cystic Kidney Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
2 PKHD1 NM_138694.3(PKHD1): c.2810G> A (p.Trp937Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204707 GRCh37 Chromosome 6, 51908434: 51908434
3 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
4 VHL NC_000003.12: g.10133799_10141895del8097 deletion Pathogenic GRCh38 Chromosome 3, 10133799: 10141895
5 PKHD1 NM_138694.3(PKHD1): c.5081dupG (p.Val1695Cysfs) duplication Pathogenic rs1057518952 GRCh37 Chromosome 6, 51889527: 51889527

Copy number variations for Cystic Kidney Disease from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 109747 17 28800000 35400000 Copy number HNF1B Renal cysts
2 109751 17 28800000 35400000 Deletion NHNF1B Renal cysts
3 109752 17 28800000 35400000 Deletion autism Renal cysts
4 110219 17 3154257 3410803 Deletion HNF1b Cystic renal disease
5 110370 17 31923035 33323544 Deletion HNF1B Renal cysts

Expression for Cystic Kidney Disease

Search GEO for disease gene expression data for Cystic Kidney Disease.

Pathways for Cystic Kidney Disease

Pathways related to Cystic Kidney Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 NPHP1 NPHP3 NPHP4 PKD1 PKD2
2
Show member pathways
11.16 NPHP3 PKD1 PKD2

GO Terms for Cystic Kidney Disease

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.73 CRB2 MUC1 PKHD1 UMOD
2 cell-cell junction GO:0005911 9.67 NPHP1 NPHP4 PKD2
3 ciliary basal body GO:0036064 9.63 NPHP4 PKD2 PKHD1
4 cell projection GO:0042995 9.61 INVS NEK8 NPHP1 NPHP3 NPHP4 PKD1
5 motile cilium GO:0031514 9.58 NPHP1 PKD1 PKD2
6 ciliary membrane GO:0060170 9.54 PKD1 PKD2 UMOD
7 ciliary base GO:0097546 9.5 NEK8 NPHP3 NPHP4
8 non-motile cilium GO:0097730 9.48 NPHP4 PKD2
9 cilium GO:0005929 9.28 INVS NEK8 NPHP1 NPHP3 NPHP4 PKD1
10 ciliary inversin compartment GO:0097543 9.26 NEK8 NPHP3
11 polycystin complex GO:0002133 9.16 PKD1 PKD2

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 NEK8 PKD1 PKD2 TSC2
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.79 INVS NPHP3 NPHP4
3 cell cycle arrest GO:0007050 9.77 PKD1 PKD2 TSC2
4 liver development GO:0001889 9.72 HNF1B PKD1 PKD2
5 determination of left/right symmetry GO:0007368 9.71 NEK8 NPHP3 PKD2
6 spinal cord development GO:0021510 9.62 PKD1 PKD2
7 JAK-STAT cascade GO:0007259 9.62 PKD1 PKD2
8 single organismal cell-cell adhesion GO:0016337 9.62 NPHP1 NPHP4 PKD1 PKHD1
9 renal system development GO:0072001 9.61 PKD1 PKD2
10 embryonic placenta development GO:0001892 9.59 PKD1 PKD2
11 detection of mechanical stimulus GO:0050982 9.58 PKD1 PKD2
12 kidney morphogenesis GO:0060993 9.58 HNF1B NPHP3
13 cytoplasmic sequestering of transcription factor GO:0042994 9.57 PKD1 PKD2
14 placenta blood vessel development GO:0060674 9.56 PKD1 PKD2
15 branching morphogenesis of an epithelial tube GO:0048754 9.54 EGF HNF1B PKD1
16 regulation of calcium ion import GO:0090279 9.51 EGF PKD2
17 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.49 PKD1 PKD2
18 regulation of cAMP metabolic process GO:0030814 9.48 NPHP3 PKD2
19 determination of liver left/right asymmetry GO:0071910 9.46 NPHP3 PKD2
20 visual behavior GO:0007632 9.43 NPHP1 NPHP4
21 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
22 positive regulation of bicellular tight junction assembly GO:1903348 9.4 NPHP1 NPHP4
23 kidney development GO:0001822 9.35 HNF1B NPHP3 PKD1 PKD2 PKHD1
24 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
25 metanephric ascending thin limb development GO:0072218 8.8 PKD1 PKD2 UMOD

Sources for Cystic Kidney Disease

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