MCID: CYS039
MIFTS: 49

Cystic Kidney Disease

Categories: Nephrological diseases

Aliases & Classifications for Cystic Kidney Disease

MalaCards integrated aliases for Cystic Kidney Disease:

Name: Cystic Kidney Disease 12 51 14
Renal Cyst 12 28 51 69
Congenital Cystic Kidney Disease 69
Kidney Diseases, Cystic 41
Cystic Kidney Diseases 69
Simple Renal Cyst 69
Cystic Kidney 69
Kidney Cysts 40
Kidney Cyst 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2975
MeSH 41 D052177
ICD10 32 Q61

Summaries for Cystic Kidney Disease

MedlinePlus : 40 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 hyperuricemic nephropathy, familial juvenile, 1 and senior-loken syndrome 1. An important gene associated with Cystic Kidney Disease is PKHD1 (PKHD1, Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Pravastatin and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and liver, and related phenotypes are Decreased cell migration and Increased cell migration

Wikipedia : 72 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 105)
# Related Disease Score Top Affiliating Genes
1 hyperuricemic nephropathy, familial juvenile, 1 31.8 HNF1B MUC1 NPHP1 NPHP4 UMOD
2 senior-loken syndrome 1 31.2 CC2D2A INVS NPHP1 NPHP3 NPHP4 XPNPEP3
3 polycystic liver disease 30.8 PKD1 PKD2 PKHD1
4 late-onset nephronophthisis 30.8 NPHP3 XPNPEP3
5 polycystic kidney disease 1 30.7 PKD1 PKD2 PKHD1 TSC2
6 nephronophthisis 1 30.7 BCAR1 INVS NPHP1 NPHP3 NPHP4 PKD1
7 nephronophthisis 16 30.0 INVS NEK8 NPHP1 NPHP4
8 polycystic kidney disease 5 29.8 PKD1 PKD2 PKHD1
9 ciliopathy 29.8 CC2D2A NPHP1 NPHP4
10 nephronophthisis 29.7 BCAR1 CC2D2A INVS NEK8 NPHP1 NPHP3
11 meckel syndrome, type 1 29.6 CC2D2A IFT88 INVS NPHP1 NPHP4
12 autosomal dominant polycystic kidney disease 29.5 EGF HNF1B PKD1 PKD2 PKHD1 TSC2
13 kidney disease 29.4 CRB2 IFT88 MUC1 NPHP1 PKD1 PKD2
14 renal cell carcinoma, nonpapillary 29.4 EGF HNF1B MUC1 TSC2 VHL
15 chronic kidney failure 29.1 INVS NPHP1 PKD1 PKD2 UMOD
16 polycystic kidney disease 28.9 IFT88 PKD1 PKD2 PKHD1
17 polycystic kidney disease 4 with or without hepatic disease 28.1 EGF HNF1B IFT88 NEK8 PKD1 PKD2
18 medullary cystic kidney disease 1 12.7
19 medullary cystic kidney disease 2 12.5
20 ventriculomegaly with cystic kidney disease 12.5
21 renal cysts and diabetes syndrome 12.5
22 multiloculated renal cyst 12.1
23 autosomal dominant tubulointerstitial kidney disease 12.0
24 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.8
25 autosomal dominant tubulointerstitial kidney disease, umod-related 11.7
26 familial juvenile hyperuricaemic nephropathy 11.6
27 medullary sponge kidney 11.4
28 tuberous sclerosis 1 11.1
29 nephronophthisis-like nephropathy 1 11.0
30 arima syndrome 10.8
31 joubert syndrome 33 10.8
32 oligomeganephronic renal hypoplasia 10.8
33 papillorenal syndrome 10.8
34 von hippel-lindau syndrome 10.8
35 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.8
36 nephronophthisis 9 10.8
37 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.5 PKD1 TSC2
38 adult hepatocellular carcinoma 10.3 EGF TSC2
39 senior-løken syndrome 10.3 NPHP3 NPHP4
40 nephronophthisis 4 10.3 NPHP1 NPHP4
41 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.2 PKD1 PKD2
42 lymphatic malformations 10.2 PKD1 PKD2
43 meckel syndrome, type 7 10.2
44 renal dysplasia 10.2
45 van maldergem syndrome 10.2 EGF FAT4
46 bardet-biedl syndrome 11 10.1 CC2D2A NPHP1 NPHP3
47 bardet-biedl syndrome 13 10.1 CC2D2A INVS NPHP3
48 nephronophthisis 2 10.1 INVS NPHP1 NPHP3 NPHP4
49 caroli disease 10.1 PKD1 PKHD1
50 cogan syndrome 10.0 INVS NPHP1 NPHP3 NPHP4

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.35 BCAR1 MUC1 NEK8 PKD1 PKD2
2 Increased cell migration GR00055-A-3 8.92 BCAR1 NEK8 PKD1 PKD2

MGI Mouse Phenotypes related to Cystic Kidney Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 PKHD1 TSC2 UMOD VHL BCAR1 CC2D2A
2 cardiovascular system MP:0005385 10.32 BCAR1 CC2D2A CRB2 FAT4 IFT88 INVS
3 growth/size/body region MP:0005378 10.22 NEK8 NPHP3 PKD1 PKD2 PKHD1 TSC2
4 embryo MP:0005380 10.18 BCAR1 CC2D2A CRB2 FAT4 HNF1B IFT88
5 digestive/alimentary MP:0005381 10.13 CC2D2A CRB2 EGF FAT4 IFT88 INVS
6 endocrine/exocrine gland MP:0005379 10.07 PKHD1 TSC2 VHL PKD2 EGF HNF1B
7 mortality/aging MP:0010768 10 BCAR1 CC2D2A CRB2 FAT4 HNF1B IFT88
8 liver/biliary system MP:0005370 9.91 HNF1B IFT88 INVS PKD1 PKD2 PKHD1
9 renal/urinary system MP:0005367 9.83 PKD1 PKD2 PKHD1 TSC2 UMOD VHL
10 respiratory system MP:0005388 9.23 CC2D2A FAT4 IFT88 INVS NEK8 PKD1

Drugs & Therapeutics for Cystic Kidney Disease

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

(show top 50) (show all 73)
# 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
Tolvaptan Approved Phase 3 150683-30-0 216237
5
Lactitol Investigational Phase 3 585-86-4 3871
6 Bone Density Conservation Agents Phase 2, Phase 3
7 Calcium, Dietary Phase 2, Phase 3
8 Anticholesteremic Agents Phase 3
9 Antimetabolites Phase 3,Phase 2
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
11 Hypolipidemic Agents Phase 3,Phase 2
12 Lipid Regulating Agents Phase 3,Phase 2
13 Hormone Antagonists Phase 3
14 Hormones Phase 3
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
16 Pharmaceutical Solutions Phase 3
17 Arginine Vasopressin Phase 2, Phase 3
18 Coagulants Phase 2, Phase 3
19 Hemostatics Phase 2, Phase 3
20 Natriuretic Agents Phase 2, Phase 3
21 Vasoconstrictor Agents Phase 2, Phase 3
22 Vasopressins Phase 2, Phase 3
23 Antineoplastic Agents, Hormonal Phase 3
24 Gastrointestinal Agents Phase 3,Phase 2,Not Applicable
25
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
26
Everolimus Approved Phase 2 159351-69-6 6442177
27
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
28
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
29
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
30
Metformin Approved Phase 2 657-24-9 4091 14219
31
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
32
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
33
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
34 Angiotensin Receptor Antagonists Phase 2
35 Angiotensin-Converting Enzyme Inhibitors Phase 2
36 Angiotensinogen Phase 2
37 Antihypertensive Agents Phase 2
38 HIV Protease Inhibitors Phase 2
39
protease inhibitors Phase 2
40 Anti-Bacterial Agents Phase 2
41 Antibiotics, Antitubercular Phase 2
42 Antifungal Agents Phase 2
43 Anti-Infective Agents Phase 2
44 Immunosuppressive Agents Phase 2
45 Cholagogues and Choleretics Phase 2
46 Liver Extracts Phase 2
47 Micronutrients Phase 2
48 Nicotinic Acids Phase 2
49 Trace Elements Phase 2
50 Vasodilator Agents Phase 2

Interventional clinical trials:

(show all 29)

# 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) Recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
7 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2 antihypertensive drugs
8 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
9 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
10 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
11 Contrast-enhanced Ultrasound for Complex Kidney Lesion Diagnosis in Patients With CKD Extension Recruiting NCT03196076 Phase 2 Perflutren Lipid microsphere
12 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Recruiting NCT02558595 Phase 2
13 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02656017 Phase 2 Metformin
14 Contrast-enhanced Ultrasound of the Kidney Active, not recruiting NCT02684435 Phase 2 Perflutren lipid microsphere
15 Detection of Renal Malignancy of Complicated Renal Cysts Completed NCT01087060
16 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
17 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
18 Autosomal Dominant Polycystic Kidney Disease (ADPKD) Pain Study Completed NCT00571909 Not Applicable
19 Dual Energy CT vs Standard Triple Phase CT-A Randomised Control Trial Completed NCT02160600 Not Applicable
20 Hereditary Tubulointerstitial Nephritis Completed NCT01312727 Not Applicable
21 High Water Intake to Slow Progression of Polycystic Kidney Disease Completed NCT00784030 Not Applicable
22 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
23 Contrast-enhanced Ultrasound for the Evaluation of Complex Renal Cysts Recruiting NCT01353521 Not Applicable
24 Efficacy and Safety of Microwave Ablation in BosniakⅠ~ⅡF Cystic Renal Lesions Recruiting NCT03068195 Not Applicable
25 Early-Stage Polycystic Kidney Disease Biomarkers Repository Study Recruiting NCT02936791
26 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD Recruiting NCT02112136 Not Applicable
27 Evaluation of Complex Renal Cyst With CEUS/Functional MRI Versus CT Active, not recruiting NCT02371551
28 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
29 Evaluation of Diagnostic Value of Molecular Markers in Renal Cancer Terminated NCT00491621

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 28

Anatomical Context for Cystic Kidney Disease

MalaCards organs/tissues related to Cystic Kidney Disease:

38
Kidney, Testes, Liver, Bone, Pancreas, Bone Marrow, Heart

Publications for Cystic Kidney Disease

Articles related to Cystic Kidney Disease:

(show top 50) (show all 192)
# Title Authors Year
1
Ectopic Phosphorylated Creb Marks Dedifferentiated Proximal Tubules in Cystic Kidney Disease. ( 29107072 )
2018
2
Cystic kidney disease: A new osmoregulatory role for HNF-1I^. ( 28579614 )
2017
3
Acquired cystic kidney disease in allograft with long-standing poor function. ( 29044342 )
2017
4
Cystic kidney disease: PALS1 links polarity, TGF-I^ and the Hippo pathway. ( 28218262 )
2017
5
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
6
Diagnosis and Management of Acquired Cystic Kidney Disease and Renal Tumors in ESRD Patients. ( 28543535 )
2017
7
Acquired cystic kidney disease: an under-recognized condition in children with end-stage renal disease. ( 28444445 )
2017
8
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. ( 28410364 )
2017
9
Primary Cilia in Cystic Kidney Disease. ( 28409350 )
2017
10
Contribution of the TTC21B gene to glomerular and cystic kidney diseases. ( 26940125 )
2017
11
Diagnostic and therapeutic challenges of an ambiguous cystic kidney disease in a resource limited setting: a case report. ( 28249589 )
2017
12
Rapidly Progressive Renal Dysfunction in Two Elderly Patients with Renal Enlargement and Medullary Cystic Kidney Disease-like Acute Tubulointerstitial Injury. ( 27746439 )
2016
13
Soy Protein Alleviates Hypertension and Fish Oil Improves Diastolic Heart Function in the Han:SPRD-Cy Rat Model of Cystic Kidney Disease. ( 26626478 )
2016
14
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease. ( 27181777 )
2016
15
Cystic kidney disease: mTORC1-PC-1 crosstalk in TSC. ( 26996330 )
2016
16
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. ( 26862157 )
2016
17
The role of cilia in the pathogenesis of cystic kidney disease. ( 25575298 )
2015
18
MicroRNAs in the pathogenesis of cystic kidney disease. ( 25490692 )
2015
19
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. ( 25818408 )
2015
20
Cystic kidney disease: a primer. ( 26088074 )
2015
21
Spontaneous retroperitoneal hemorrhage presenting as hemoperitoneum secondary to renal cyst rupture in a peritoneal dialysis patient with acquired cystic kidney disease. ( 26199480 )
2015
22
Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function. ( 26542298 )
2015
23
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. ( 24509297 )
2014
24
Cystic kidney disease: Intracellular clusterin implicated in nephropathic cystinosis. ( 25112440 )
2014
25
Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt. ( 24655010 )
2014
26
An unusual case of familial cystic kidney disease. ( 25878781 )
2014
27
Filling the holes in cystic kidney disease research. ( 24903391 )
2014
28
An approach to cystic kidney diseases: the clinician's view. ( 25266212 )
2014
29
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. ( 23569556 )
2013
30
Microtubule modifications and stability are altered by cilia perturbation and in cystic kidney disease. ( 23124988 )
2013
31
Cystic kidney diseases: many ways to form a cyst. ( 22736301 )
2013
32
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. ( 24257694 )
2013
33
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. ( 23396133 )
2013
34
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
35
Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use. ( 23796907 )
2013
36
Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease. ( 24009236 )
2013
37
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. ( 23475468 )
2013
38
Cell polarity and cystic kidney disease. ( 23161205 )
2013
39
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. ( 22106379 )
2012
40
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
41
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
42
Contrast-enhanced ultrasound assessment of complex cystic lesions in renal transplant recipients with acquired cystic kidney disease: preliminary experience. ( 22974874 )
2012
43
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. ( 21199495 )
2011
44
Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases. ( 21670265 )
2011
45
Juvenile nephropathy in a Boxer dog resembling the human nephronophthisis-medullary cystic kidney disease complex. ( 21836389 )
2011
46
Bilateral multiple cystic kidney disease and renal cortical abscess in a Boerboel. ( 22135926 )
2011
47
Cystic kidney disease: the role of Wnt signaling. ( 20576469 )
2010
48
The diagnostic value of ultrasound in cystic kidney diseases. ( 18810502 )
2010
49
Renal CD14 expression correlates with the progression of cystic kidney disease. ( 20555320 )
2010
50
Evaluation of acquired cystic kidney disease in patients on hemodialysis with ultrasonography. ( 20622311 )
2010

Variations for Cystic Kidney Disease

ClinVar genetic disease variations for Cystic Kidney Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PKHD1 NM_138694.3(PKHD1): c.2810G> A (p.Trp937Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204707 GRCh37 Chromosome 6, 51908434: 51908434
2 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
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 GRCh37 Chromosome 3, 10175483: 10183579
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
# 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
11.89 CC2D2A IFT88 NPHP1 NPHP3 NPHP4 PKD1
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:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.78 CRB2 MUC1 PKHD1 UMOD
2 cell projection GO:0042995 9.7 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP3
3 ciliary basal body GO:0036064 9.67 IFT88 NPHP4 PKD2 PKHD1
4 ciliary membrane GO:0060170 9.61 PKD1 PKD2 UMOD
5 ciliary base GO:0097546 9.58 NEK8 NPHP3 NPHP4
6 motile cilium GO:0031514 9.46 IFT88 NPHP1 PKD1 PKD2
7 cilium GO:0005929 9.36 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP3
8 polycystin complex GO:0002133 9.32 PKD1 PKD2
9 ciliary inversin compartment GO:0097543 9.26 NEK8 NPHP3
10 cytoskeleton GO:0005856 10 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP4

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.84 CC2D2A IFT88 NPHP3 PKHD1
2 ciliary basal body-plasma membrane docking GO:0097711 9.77 CC2D2A NPHP1 NPHP4
3 heart development GO:0007507 9.77 CC2D2A NEK8 PKD1 PKD2 TSC2
4 cell-cell adhesion GO:0098609 9.76 NPHP1 NPHP4 PKD1 PKHD1
5 liver development GO:0001889 9.75 HNF1B PKD1 PKD2
6 determination of left/right symmetry GO:0007368 9.62 CC2D2A NEK8 NPHP3 PKD2
7 detection of mechanical stimulus GO:0050982 9.6 PKD1 PKD2
8 placenta blood vessel development GO:0060674 9.58 PKD1 PKD2
9 branching morphogenesis of an epithelial tube GO:0048754 9.58 EGF HNF1B PKD1
10 kidney morphogenesis GO:0060993 9.57 HNF1B NPHP3
11 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD1 PKD2
12 regulation of calcium ion import GO:0090279 9.55 EGF PKD2
13 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.52 PKD1 PKD2
14 regulation of cAMP metabolic process GO:0030814 9.51 NPHP3 PKD2
15 determination of liver left/right asymmetry GO:0071910 9.49 NPHP3 PKD2
16 visual behavior GO:0007632 9.48 NPHP1 NPHP4
17 positive regulation of bicellular tight junction assembly GO:1903348 9.43 NPHP1 NPHP4
18 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
19 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
20 metanephric ascending thin limb development GO:0072218 9.13 PKD1 PKD2 UMOD
21 kidney development GO:0001822 9.1 FAT4 HNF1B NPHP3 PKD1 PKD2 PKHD1

Sources for Cystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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