MCID: CYS039
MIFTS: 55

Cystic Kidney Disease

Categories: Nephrological diseases

Aliases & Classifications for Cystic Kidney Disease

MalaCards integrated aliases for Cystic Kidney Disease:

Name: Cystic Kidney Disease 12 56 15 17
Renal Cyst 12 30 56 6 74
Congenital Cystic Kidney Disease 74
Kidney Diseases, Cystic 45
Cystic Kidney Diseases 74
Simple Renal Cyst 74
Cystic Kidney 74
Kidney Cysts 44
Kidney Cyst 17

Classifications:



External Ids:

Disease Ontology 12 DOID:2975
MeSH 45 D052177
ICD10 34 Q61

Summaries for Cystic Kidney Disease

MedlinePlus : 44 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 autosomal dominant tubulointerstitial kidney disease and polycystic liver disease 1 with or without kidney cysts. An important gene associated with Cystic Kidney Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Glioblastoma Multiforme. The drugs Pravastatin and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and testes, and related phenotypes are Decreased cell migration and Increased cell migration

Wikipedia : 77 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 267)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease 34.2 HNF1B MUC1 UMOD
2 polycystic liver disease 1 with or without kidney cysts 33.6 HNF1B MUC1 NPHP1 NPHP4 PKD1 PKD2
3 nephronophthisis 32.9 BCAR1 CC2D2A INVS NEK8 NPHP1 NPHP3
4 hyperuricemic nephropathy, familial juvenile, 1 32.8 HNF1B MUC1 UMOD
5 autosomal dominant polycystic kidney disease 32.6 EGF HNF1B PKD1 PKD2 PKHD1 TSC1
6 senior-loken syndrome 1 32.5 CC2D2A INVS NPHP1 NPHP3 NPHP4 TMEM67
7 nephronophthisis 1 32.1 INVS NPHP1 NPHP3 NPHP4 PKD1
8 polycystic liver disease 32.1 PKD1 PKD2 PKHD1
9 caroli disease 32.1 PKD1 PKHD1
10 polycystic kidney disease 1 with or without polycystic liver disease 32.0 EGF HNF1B IFT88 NPHP3 PKD1 PKD2
11 nephronophthisis 9 31.8 INVS NEK8 NPHP1 NPHP3 NPHP4 PKHD1
12 juvenile nephronophthisis 31.7 INVS NPHP1 NPHP3 NPHP4
13 meckel syndrome, type 3 31.2 CC2D2A NPHP1 TMEM67
14 kidney disease 31.2 CRB2 HNF1B IFT88 MUC1 NEK8 NPHP1
15 meckel syndrome, type 1 31.1 CC2D2A IFT88 INVS NPHP1 NPHP4 TMEM67
16 polycystic kidney disease 4 with or without polycystic liver disease 31.1 EGF HNF1B IFT88 NEK8 PKD1 PKD2
17 meckel syndrome, type 6 31.0 CC2D2A INVS NPHP1 NPHP4 TMEM67
18 multicystic dysplastic kidney 31.0 PKD1 PKD2
19 infantile nephronophthisis 31.0 INVS NEK8 NPHP3 NPHP4
20 renal cell carcinoma, nonpapillary 30.9 HNF1B MUC1 TSC1 TSC2 VHL
21 tuberous sclerosis 30.6 PKD1 TSC1 TSC2 VHL
22 polycystic kidney disease 30.3 HNF1B IFT88 NEK8 PKD1 PKD2 PKHD1
23 chronic kidney failure 30.1 INVS NPHP1 PKD1 PKD2 UMOD
24 nephronophthisis 2 29.9 INVS NEK8 NPHP1 NPHP3 NPHP4
25 polycystic kidney disease 2 with or without polycystic liver disease 29.8 HNF1B IFT88 PKD1 PKD2 PKHD1
26 joubert syndrome 1 29.6 CC2D2A IFT88 INVS NPHP1 NPHP3 NPHP4
27 medullary cystic kidney disease 1 12.9
28 medullary cystic kidney disease 2 12.7
29 ventriculomegaly with cystic kidney disease 12.7
30 renal cysts and diabetes syndrome 12.7
31 polycystic liver disease 4 with or without kidney cysts 12.5
32 polycystic liver disease 2 with or without kidney cysts 12.4
33 multiloculated renal cyst 12.3
34 autosomal dominant tubulointerstitial kidney disease due to umod mutations 11.9
35 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.8
36 autosomal dominant tubulointerstitial kidney disease due to muc1 mutations 11.8
37 medullary sponge kidney 11.6
38 autosomal dominant tubulointerstitial kidney disease, umod-related 11.4
39 tuberous sclerosis 1 11.3
40 nephronophthisis-like nephropathy 1 11.2
41 coach syndrome 11.1
42 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.1
43 arima syndrome 11.0
44 joubert syndrome 33 11.0
45 oligomeganephronia 11.0
46 peroxisome biogenesis disorder 1a 11.0
47 peroxisome biogenesis disorder 2a 11.0
48 polycystic kidney disease 3 with or without polycystic liver disease 11.0
49 renal dysplasia, cystic 11.0
50 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.0

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.43 BCAR1 MUC1 NEK8 PKD1 PKD2 TSC1
2 Increased cell migration GR00055-A-3 8.92 BCAR1 NEK8 PKD1 PKD2

MGI Mouse Phenotypes related to Cystic Kidney Disease:

47 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.43 BCAR1 CC2D2A CRB2 IFT88 INVS NPHP1
2 cardiovascular system MP:0005385 10.41 BCAR1 CC2D2A CRB2 IFT88 INVS NEK8
3 growth/size/body region MP:0005378 10.39 BCAR1 CC2D2A CRB2 EGF HNF1B IFT88
4 embryo MP:0005380 10.31 BCAR1 CC2D2A CRB2 HNF1B IFT88 INVS
5 endocrine/exocrine gland MP:0005379 10.22 EGF HNF1B IFT88 INVS NPHP1 PKD1
6 digestive/alimentary MP:0005381 10.21 CC2D2A CRB2 EGF IFT88 INVS PKD1
7 mortality/aging MP:0010768 10.2 BCAR1 CC2D2A CRB2 HNF1B IFT88 INVS
8 homeostasis/metabolism MP:0005376 10.17 HNF1B IFT88 INVS NEK8 NPHP3 PKD1
9 liver/biliary system MP:0005370 10.11 BCAR1 HNF1B IFT88 INVS PKD1 PKD2
10 renal/urinary system MP:0005367 10.06 CC2D2A HNF1B IFT88 INVS NEK8 NPHP1
11 integument MP:0010771 10.01 CC2D2A CRB2 EGF IFT88 PKD1 TSC1
12 nervous system MP:0003631 10 CC2D2A CRB2 IFT88 NPHP1 NPHP3 NPHP4
13 respiratory system MP:0005388 9.56 CC2D2A IFT88 INVS NEK8 PKD1 PKD2
14 vision/eye MP:0005391 9.23 CC2D2A CRB2 EGF IFT88 NPHP1 NPHP4

Drugs & Therapeutics for Cystic Kidney Disease

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 3 81093-37-0 54687
2
Octreotide Approved, Investigational Phase 3 83150-76-9 6400441 383414
3
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
4
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
5
Tolvaptan Approved Phase 3,Phase 2 150683-30-0 216237
6
Metformin Approved Phase 3,Phase 2 657-24-9 14219 4091
7
Calcium Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7440-70-2 271
8
Lactitol Investigational Phase 3 585-88-6, 585-86-4 493591
9 Bone Density Conservation Agents Phase 2, Phase 3,Phase 1
10 Hormones Phase 2, Phase 3,Phase 3,Phase 1
11 Calcium, Dietary Phase 2, Phase 3,Phase 1
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
13 Antimetabolites Phase 3,Phase 2
14 Anticholesteremic Agents Phase 3
15 Lipid Regulating Agents Phase 3,Phase 2
16 Hypolipidemic Agents Phase 3,Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
18 Hormone Antagonists Phase 3
19 Pharmaceutical Solutions Phase 3
20 Vasoconstrictor Agents Phase 2, Phase 3
21 Natriuretic Agents Phase 2, Phase 3,Phase 3
22 Coagulants Phase 2, Phase 3
23 Arginine Vasopressin Phase 2, Phase 3,Phase 3
24 Hemostatics Phase 2, Phase 3
25 Vasopressins Phase 2, Phase 3,Phase 3
26 Antineoplastic Agents, Hormonal Phase 3
27 Gastrointestinal Agents Phase 3,Phase 2,Not Applicable
28 Antidiuretic Hormone Receptor Antagonists Phase 3,Phase 2
29 Hypoglycemic Agents Phase 3,Phase 2
30
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
31
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
32
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
33
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
34
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
35
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
36
Indian frankincense Approved, Experimental, Investigational Phase 1, Phase 2
37
Sodium Citrate Approved, Investigational Phase 1, Phase 2 68-04-2
38
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
39
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
40
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
41
Uric acid Investigational Phase 1, Phase 2 69-93-2 1175
42 Angiotensin Receptor Antagonists Phase 2
43
protease inhibitors Phase 2
44 Angiotensin-Converting Enzyme Inhibitors Phase 2
45 Giapreza Phase 2
46 Angiotensinogen Phase 2
47 Antihypertensive Agents Phase 2
48 HIV Protease Inhibitors Phase 2
49 Anti-Infective Agents Phase 2
50 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
2 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3 pravastatin;Placebo
3 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
4 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
5 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Completed NCT01377246 Phase 3 Octreotide-LAR
6 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
7 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
8 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
9 Contrast-enhanced Ultrasound of the Kidney Completed NCT02684435 Phase 2 Perflutren lipid microsphere
10 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
11 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
12 8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
13 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Completed NCT02558595 Phase 2
14 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
15 Contrast-enhanced Ultrasound for Complex Kidney Lesion Diagnosis in Patients With CKD Extension Active, not recruiting NCT03196076 Phase 2 Perflutren Lipid microsphere
16 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02656017 Phase 2 Metformin
17 Treatment of Renal Stones With Frankincense (Luban) Not yet recruiting NCT03924596 Phase 1, Phase 2 AKBA-Incense (3-acetyl-11-keto-ß-boswellic acid);Potassium Sodium Hydrogen Citrate
18 Detection of Renal Malignancy of Complicated Renal Cysts Completed NCT01087060
19 Prophylactic Effects of Ondansetron, Ramosetron, and Palonosetron on Patient-Controlled Analgesia Related Nausea and Vomiting After Urologic Laparoscopic Surgery Completed NCT01169805 Not Applicable Ondansetron;Ramosetron;Palonosetron;Normal saline inj
20 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
21 Autosomal Dominant Polycystic Kidney Disease (ADPKD) Pain Study Completed NCT00571909 Not Applicable
22 Dual Energy CT vs Standard Triple Phase CT-A Randomised Control Trial Completed NCT02160600 Not Applicable
23 Hereditary Tubulointerstitial Nephritis Completed NCT01312727 Not Applicable
24 High Water Intake to Slow Progression of Polycystic Kidney Disease Completed NCT00784030 Not Applicable
25 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
26 Contrast-enhanced Ultrasound for the Evaluation of Complex Renal Cysts Recruiting NCT01353521 Not Applicable
27 The Potential of Radiomics to Differentiate Between Malignant and Benign Bosniak 3 Renal Cysts. Recruiting NCT03552497
28 Efficacy and Safety of Microwave Ablation in BosniakⅠ~ⅡF Cystic Renal Lesions Recruiting NCT03068195 Not Applicable
29 PKD Biomarkers Study Recruiting NCT02936791
30 Renal Cancer Detection Using Convolutional Neural Networks Recruiting NCT03857373
31 a Prospective Trial Comparing Robot-assisted Partial Nephrectomy Versus Laparoscopic Partial Nephrectomy Recruiting NCT03900364 Not Applicable
32 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD Recruiting NCT02112136 Not Applicable
33 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
34 Evaluation of Complex Renal Cyst With CEUS/Functional MRI Versus CT Active, not recruiting NCT02371551
35 Measurement of Renal Functional Reserve Change In Patients With SRC Before and After Laparoscopic Deroofing Not yet recruiting NCT03259594 Not Applicable 100 g of amino acids supplementation
36 Evaluation of Diagnostic Value of Molecular Markers in Renal Cancer Terminated NCT00491621 Not Applicable

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:

# Genetic test Affiliating Genes
1 Renal Cyst 30

Anatomical Context for Cystic Kidney Disease

MalaCards organs/tissues related to Cystic Kidney Disease:

42
Kidney, Liver, Testes, Thyroid, Bone, Pancreas, Heart

Publications for Cystic Kidney Disease

Articles related to Cystic Kidney Disease:

(show top 50) (show all 709)
# Title Authors Year
1
Caffeine Accelerates Cystic Kidney Disease in a Pkd1-Deficient Mouse Model. ( 30977988 )
2019
2
A "double hit" model of cystic kidney disease. ( 31010483 )
2019
3
Renal cell carcinoma originating in the free wall of simple renal cyst: Two unusual case reports with literature review. ( 31008960 )
2019
4
Emphysematous infection of a solitary renal cyst: A case report and literature review. ( 30306046 )
2019
5
Lipid Peroxidation Drives Renal Cyst Growth In Vitro through Activation of TMEM16A. ( 30606785 )
2019
6
Active Surveillance Versus Nephron-Sparing Surgery for a Bosniak IIF or III Renal Cyst: A Cost-Effectiveness Analysis. ( 30779659 )
2019
7
Renal cyst evolution in childhood: a contemporary observational study. ( 30808538 )
2019
8
A Complex Renal Cyst in a Patient on Crizotinib: Case Report. ( 31078629 )
2019
9
Featuring: Renal cyst evolution in childhood: a contemporary observational study. ( 31103192 )
2019
10
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease. ( 30042192 )
2018
11
Infected renal cyst presented with pleural effusion in a woman with autosomal dominant polycystic kidney disease. ( 29644060 )
2018
12
Acquired cystic kidney disease: an under-recognized condition in children with end-stage renal disease. ( 28444445 )
2018
13
Ectopic Phosphorylated Creb Marks Dedifferentiated Proximal Tubules in Cystic Kidney Disease. ( 29107072 )
2018
14
Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development. ( 29626631 )
2018
15
Ultrasound, Computed Tomography, and Magnetic Resonance Imaging in a Patient With Medullary Cystic Kidney Disease. ( 29768287 )
2018
16
Acquired cystic kidney disease and renal tumor. ( 29970755 )
2018
17
Periostin overexpression in collecting ducts accelerates renal cyst growth and fibrosis in polycystic kidney disease. ( 30332313 )
2018
18
Lansoprazole reduces renal cyst in polycystic kidney disease via inhibition of cell proliferation and fluid secretion. ( 29746821 )
2018
19
Clinical predictors of escalating care in hepatic and renal cyst infection in autosomal dominant polycystic kidney and liver disease. ( 30019678 )
2018
20
Quercetin inhibits renal cyst growth in vitro and via parenteral injection in a polycystic kidney disease mouse model. ( 29215110 )
2018
21
Type 1 Papillary Renal Cell Carcinoma Presenting as an Infected Benign Renal Cyst: an Uncommon Presentation. ( 29887714 )
2018
22
Infected Renal Cyst as a Complication of Dropped Gallstones during Laparoscopic Cholecystectomy. ( 30405920 )
2018
23
Expanding the Definition of a Benign Renal Cyst on Contrast-enhanced CT: Can Incidental Homogeneous Renal Masses Measuring 21-39 HU be Safely Ignored? ( 29174191 )
2018
24
A peripelvic renal cyst resulting in clinically symptomatic ureteropelvic junction obstruction. ( 29321973 )
2018
25
Safe surgical treatment of peripelvic renal cyst combined with renal calculi by percutaneous nephroscopy. ( 29445479 )
2018
26
Steviol slows renal cyst growth by reducing AQP2 expression and promoting AQP2 degradation. ( 29524884 )
2018
27
Renal cyst infection: a diagnostic dilemma. ( 29636958 )
2018
28
Increased risk of kidney damage among Chinese adults with simple renal cyst. ( 29728991 )
2018
29
Randomized study of percutaneous ureteroscopic plasma column electrode decortication and laparoscopic decortication in managing simple renal cyst. ( 29732285 )
2018
30
Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation. ( 29897930 )
2018
31
Retroperitoneal laparoendoscopic single-site approach for renal cyst decortication - first experience and a review of literature. ( 30093816 )
2018
32
Robotic renal cyst decortication with calyceal diverticulectomy in a toddler - technical practicalities: a case report. ( 30285879 )
2018
33
False-positive radioiodine whole-body scan due to a renal cyst. ( 30306537 )
2018
34
Effectiveness of harmonic scalpel in laparoscopic treatment of simple renal cyst. ( 30317318 )
2018
35
A rare presentation of simple renal cyst: gastrointestinal obstruction. ( 30425816 )
2018
36
Methylene Blue Injection via Percutaneous Renal Cyst Puncture Used in Flexible Ureteroscope for Treatment of Parapelvic Cysts: A Modified Method for Easily Locating Cystic Wall. ( 30452965 )
2018
37
Management of renal cyst infection in patients with autosomal dominant polycystic kidney disease: a systematic review. ( 26908766 )
2017
38
A Retroperitoneal Serous Cystadenoma of Müllerian Origin Masquerading as a Massive Renal Cyst. ( 28408339 )
2017
39
Cystic kidney disease: PALS1 links polarity, TGF-β and the Hippo pathway. ( 28218262 )
2017
40
Diagnostic and therapeutic challenges of an ambiguous cystic kidney disease in a resource limited setting: a case report. ( 28249589 )
2017
41
Primary Cilia in Cystic Kidney Disease. ( 28409350 )
2017
42
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. ( 28410364 )
2017
43
Diagnosis and Management of Acquired Cystic Kidney Disease and Renal Tumors in ESRD Patients. ( 28543535 )
2017
44
Cystic kidney disease: A new osmoregulatory role for HNF-1β. ( 28579614 )
2017
45
Acquired cystic kidney disease in allograft with long-standing poor function. ( 29044342 )
2017
46
Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease. ( 29052568 )
2017
47
Xanthogranulomatous pyelonephritis presenting as a type IV renal cyst. ( 28522934 )
2017
48
Renal cell carcinoma presenting as a simple renal cyst: A case report. ( 28413666 )
2017
49
Acquired renal cyst in Wilms tumour survivors. ( 27108195 )
2017
50
Management of Urinoma Formation After Laparoscopic Cryoablation of Renal Cyst. ( 28164162 )
2017

Variations for Cystic Kidney Disease

ClinVar genetic disease variations for Cystic Kidney Disease:

6 (show all 16)
# 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 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
3 PKHD1 NM_138694.3(PKHD1): c.2810G> A (p.Trp937Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204707 GRCh37 Chromosome 6, 51908434: 51908434
4 PKHD1 NM_138694.3(PKHD1): c.2810G> A (p.Trp937Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204707 GRCh38 Chromosome 6, 52043636: 52043636
5 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
6 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
7 VHL NC_000003.12: g.10133799_10141895del8097 deletion Pathogenic GRCh38 Chromosome 3, 10133799: 10141895
8 VHL NC_000003.12: g.10133799_10141895del8097 deletion Pathogenic GRCh37 Chromosome 3, 10175483: 10183579
9 PKHD1 NM_138694.3(PKHD1): c.5081dupG (p.Val1695Cysfs) duplication Pathogenic rs1057518952 GRCh37 Chromosome 6, 51889527: 51889527
10 PKHD1 NM_138694.3(PKHD1): c.5081dupG (p.Val1695Cysfs) duplication Pathogenic rs1057518952 GRCh38 Chromosome 6, 52024729: 52024729
11 PAX2 NM_003990.4(PAX2): c.213-1_225del deletion Likely pathogenic rs1057518761 GRCh37 Chromosome 10, 102510450: 102510463
12 PAX2 NM_003990.4(PAX2): c.213-1_225del deletion Likely pathogenic rs1057518761 GRCh38 Chromosome 10, 100750693: 100750706
13 PKD1 NM_000296.3(PKD1): c.9185T> A (p.Val3062Asp) single nucleotide variant Likely pathogenic rs1057518856 GRCh37 Chromosome 16, 2152398: 2152398
14 PKD1 NM_000296.3(PKD1): c.9185T> A (p.Val3062Asp) single nucleotide variant Likely pathogenic rs1057518856 GRCh38 Chromosome 16, 2102397: 2102397
15 PKD1 NM_000296.3(PKD1): c.3019G> A (p.Val1007Met) single nucleotide variant Uncertain significance rs376176735 GRCh37 Chromosome 16, 2162931: 2162931
16 PKD1 NM_000296.3(PKD1): c.3019G> A (p.Val1007Met) single nucleotide variant Uncertain significance rs376176735 GRCh38 Chromosome 16, 2112930: 2112930

Copy number variations for Cystic Kidney Disease from CNVD:

7
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 CC2D2A IFT88 NPHP1 NPHP3 NPHP4 PKD1
2 11.38 EGF TSC1 TSC2
3
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 14)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.91 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP4
2 apical plasma membrane GO:0016324 9.84 CRB2 MUC1 PKHD1 UMOD
3 motile cilium GO:0031514 9.8 IFT88 NPHP1 PKD1 PKD2
4 cell projection GO:0042995 9.77 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP3
5 ciliary basal body GO:0036064 9.76 IFT88 NPHP4 PKD2 PKHD1
6 ciliary base GO:0097546 9.65 IFT88 NEK8 NPHP4
7 ciliary transition zone GO:0035869 9.61 CC2D2A NPHP4 TMEM67
8 non-motile cilium GO:0097730 9.58 IFT88 NPHP4 PKD2
9 MKS complex GO:0036038 9.52 CC2D2A TMEM67
10 ciliary membrane GO:0060170 9.46 PKD1 PKD2 TMEM67 UMOD
11 cilium GO:0005929 9.4 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP3
12 polycystin complex GO:0002133 9.37 PKD1 PKD2
13 TSC1-TSC2 complex GO:0033596 9.32 TSC1 TSC2
14 cytoplasm GO:0005737 10.39 BCAR1 CC2D2A IFT88 INVS MUC1 NEK8

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.95 PKD2 TSC1 TSC2 UMOD VHL
2 heart development GO:0007507 9.85 CC2D2A NEK8 PKD1 PKD2 TSC2
3 cell-cell adhesion GO:0098609 9.83 NPHP1 NPHP4 PKD1 PKHD1
4 cilium assembly GO:0060271 9.8 CC2D2A IFT88 NPHP3 PKHD1 TMEM67
5 liver development GO:0001889 9.76 HNF1B PKD1 PKD2
6 neural tube closure GO:0001843 9.75 CC2D2A TSC1 TSC2
7 ciliary basal body-plasma membrane docking GO:0097711 9.73 CC2D2A NPHP1 NPHP4 TMEM67
8 cell projection organization GO:0030030 9.72 CC2D2A IFT88 NPHP1 TMEM67 TSC1
9 determination of left/right symmetry GO:0007368 9.67 CC2D2A NEK8 NPHP3 PKD2
10 branching morphogenesis of an epithelial tube GO:0048754 9.65 EGF HNF1B PKD1
11 detection of mechanical stimulus GO:0050982 9.61 PKD1 PKD2
12 kidney morphogenesis GO:0060993 9.6 HNF1B NPHP3
13 placenta blood vessel development GO:0060674 9.59 PKD1 PKD2
14 cytoplasmic sequestering of transcription factor GO:0042994 9.57 PKD1 PKD2
15 regulation of calcium ion import GO:0090279 9.56 EGF PKD2
16 determination of liver left/right asymmetry GO:0071910 9.54 NPHP3 PKD2
17 visual behavior GO:0007632 9.51 NPHP1 NPHP4
18 positive regulation of bicellular tight junction assembly GO:1903348 9.49 NPHP1 NPHP4
19 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
20 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
21 kidney development GO:0001822 9.17 HNF1B IFT88 NPHP3 PKD1 PKD2 PKHD1
22 metanephric ascending thin limb development GO:0072218 9.13 PKD1 PKD2 UMOD

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 BCAR1 EGF HNF1B IFT88 INVS MUC1

Sources for Cystic Kidney Disease

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