MCID: CYS039
MIFTS: 51

Cystic Kidney Disease

Categories: Nephrological diseases

Aliases & Classifications for Cystic Kidney Disease

MalaCards integrated aliases for Cystic Kidney Disease:

Name: Cystic Kidney Disease 12 55 15
Renal Cyst 12 29 55 6 73
Congenital Cystic Kidney Disease 73
Kidney Diseases, Cystic 44
Cystic Kidney Diseases 73
Simple Renal Cyst 73
Cystic Kidney 73
Kidney Cysts 43
Kidney Cyst 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2975
MeSH 44 D052177
ICD10 33 Q61

Summaries for Cystic Kidney Disease

MedlinePlus : 43 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 hyperuricemic nephropathy, familial juvenile, 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, liver and testes, and related phenotypes are Decreased cell migration and Increased cell migration

Wikipedia : 76 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 109)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease 33.9 MUC1 UMOD
2 hyperuricemic nephropathy, familial juvenile, 1 31.8 HNF1B MUC1 NPHP1 NPHP4 UMOD
3 late-onset nephronophthisis 31.3 NPHP3 XPNPEP3
4 juvenile nephronophthisis 31.0 INVS NPHP1 NPHP3 NPHP4
5 nephronophthisis 1 30.5 BCAR1 INVS NPHP1 NPHP3 NPHP4 PKD1
6 polycystic liver disease 30.3 PKD1 PKD2 PKHD1
7 senior-loken syndrome 1 30.1 CC2D2A INVS NPHP1 NPHP3 NPHP4 TMEM67
8 polycystic liver disease 1 with or without kidney cysts 30.1 HNF1B MUC1 NPHP1 NPHP4 PKD1 PKD2
9 multicystic dysplastic kidney 30.1 PKD1 PKD2
10 infantile nephronophthisis 30.0 INVS NEK8 NPHP3 NPHP4
11 renal cell carcinoma, nonpapillary 29.8 HNF1B MUC1 TSC2 VHL
12 polycystic kidney disease 1 with or without polycystic liver disease 29.6 EGF PKD1 PKD2 PKHD1 TSC2
13 meckel syndrome, type 1 28.8 CC2D2A IFT88 INVS NPHP1 NPHP4 TMEM67
14 autosomal dominant polycystic kidney disease 28.6 EGF HNF1B PKD1 PKD2 PKHD1 TSC2
15 chronic kidney failure 28.4 INVS NPHP1 PKD1 PKD2 UMOD
16 polycystic kidney disease 27.8 IFT88 PKD1 PKD2 PKHD1 TSC2
17 kidney disease 26.9 CRB2 HNF1B IFT88 MUC1 NPHP1 PKD1
18 nephronophthisis 26.8 BCAR1 CC2D2A INVS NEK8 NPHP1 NPHP3
19 polycystic kidney disease 4 with or without polycystic liver disease 25.9 EGF HNF1B IFT88 NEK8 PKD1 PKD2
20 medullary cystic kidney disease 1 12.7
21 medullary cystic kidney disease 2 12.5
22 ventriculomegaly with cystic kidney disease 12.5
23 renal cysts and diabetes syndrome 12.5
24 polycystic liver disease 4 with or without kidney cysts 12.3
25 polycystic liver disease 3 with or without kidney cysts 12.2
26 polycystic liver disease 2 with or without kidney cysts 12.1
27 multiloculated renal cyst 12.1
28 autosomal dominant tubulointerstitial kidney disease, umod-related 11.7
29 mucin-1 kidney disease 11.7
30 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.6
31 familial juvenile hyperuricaemic nephropathy 11.6
32 medullary sponge kidney 11.4
33 tuberous sclerosis 1 11.1
34 nephronophthisis-like nephropathy 1 11.0
35 arima syndrome 10.8
36 joubert syndrome 33 10.8
37 oligomeganephronia 10.8
38 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.8 PKD1 TSC2
39 papillorenal syndrome 10.8
40 von hippel-lindau syndrome 10.8
41 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.8
42 nephronophthisis 9 10.8
43 adult hepatocellular carcinoma 10.6 EGF TSC2
44 senior-løken syndrome 10.6 NPHP3 NPHP4
45 nephronophthisis 4 10.6 NPHP1 NPHP4
46 joubert syndrome with oculorenal anomalies 10.5 CC2D2A NPHP4
47 meckel syndrome, type 7 10.3
48 angiomatosis 10.2 TSC2 VHL
49 retinal aplasia 10.2 NPHP1 NPHP4
50 microcystic adenoma 10.2 MUC1 VHL

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
# 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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 NPHP1 NPHP3 NPHP4 PKD1 PKD2 PKHD1
2 cardiovascular system MP:0005385 10.34 NPHP4 PKD1 PKD2 PKHD1 TMEM67 TSC2
3 growth/size/body region MP:0005378 10.27 BCAR1 CC2D2A CRB2 EGF HNF1B IFT88
4 embryo MP:0005380 10.21 BCAR1 CC2D2A CRB2 HNF1B IFT88 INVS
5 digestive/alimentary MP:0005381 10.16 CC2D2A CRB2 EGF IFT88 INVS PKD1
6 endocrine/exocrine gland MP:0005379 10.1 HNF1B IFT88 INVS NPHP1 PKD1 EGF
7 mortality/aging MP:0010768 10.1 BCAR1 CC2D2A CRB2 HNF1B IFT88 INVS
8 liver/biliary system MP:0005370 10.02 TMEM67 TSC2 VHL BCAR1 HNF1B IFT88
9 nervous system MP:0003631 9.85 CC2D2A CRB2 IFT88 NPHP1 NPHP3 NPHP4
10 renal/urinary system MP:0005367 9.83 CC2D2A HNF1B IFT88 INVS NEK8 NPHP1
11 respiratory system MP:0005388 9.17 CC2D2A IFT88 INVS NEK8 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 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 383414 6400441
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,Phase 3
18 Coagulants Phase 2, Phase 3
19 Hemostatics Phase 2, Phase 3
20 Natriuretic Agents Phase 2, Phase 3,Phase 3
21 Vasoconstrictor Agents Phase 2, Phase 3
22 Vasopressins Phase 2, Phase 3,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 5284616 6436030 46835353
29
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
30
Metformin Approved Phase 2 657-24-9 14219 4091
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 31)
# 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 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02656017 Phase 2 Metformin
13 Contrast-enhanced Ultrasound of the Kidney Active, not recruiting NCT02684435 Phase 2 Perflutren lipid microsphere
14 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Active, not recruiting NCT02558595 Phase 2
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 The Potential of Radiomics to Differentiate Between Malignant and Benign Bosniak 3 Renal Cysts. Recruiting NCT03552497
25 Efficacy and Safety of Microwave Ablation in BosniakⅠ~ⅡF Cystic Renal Lesions Recruiting NCT03068195 Not Applicable
26 PKD Biomarkers Study Recruiting NCT02936791
27 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD Recruiting NCT02112136 Not Applicable
28 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
29 Evaluation of Complex Renal Cyst With CEUS/Functional MRI Versus CT Active, not recruiting NCT02371551
30 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
31 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 29

Anatomical Context for Cystic Kidney Disease

MalaCards organs/tissues related to Cystic Kidney Disease:

41
Kidney, Liver, Testes, Bone, Pancreas, Bone Marrow, Lung

Publications for Cystic Kidney Disease

Articles related to Cystic Kidney Disease:

(show top 50) (show all 308)
# Title Authors Year
1
Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development. ( 29626631 )
2018
2
Ectopic Phosphorylated Creb Marks Dedifferentiated Proximal Tubules in Cystic Kidney Disease. ( 29107072 )
2018
3
Acquired cystic kidney disease and renal tumor. ( 29970755 )
2018
4
Ultrasound, Computed Tomography, and Magnetic Resonance Imaging in a Patient With Medullary Cystic Kidney Disease. ( 29768287 )
2018
5
Cystic kidney disease: PALS1 links polarity, TGF-I^ and the Hippo pathway. ( 28218262 )
2017
6
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
7
Renal Cysts and Nephrocalcinosis in 11 Beta-hydroxylase Deficiency. ( 28904442 )
2017
8
Acquired cystic kidney disease: an under-recognized condition in children with end-stage renal disease. ( 28444445 )
2017
9
A Retroperitoneal Serous Cystadenoma of MA1llerian Origin Masquerading as a Massive Renal Cyst. ( 28408339 )
2017
10
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. ( 28410364 )
2017
11
Acquired cystic kidney disease in allograft with long-standing poor function. ( 29044342 )
2017
12
Contribution of the TTC21B gene to glomerular and cystic kidney diseases. ( 26940125 )
2017
13
Increased prevalence of renal cysts in patients with sickle cell disease. ( 28934953 )
2017
14
Multicystic segmentary renal displasia associated to ureterocele and simple renal cysts in a newborn. ( 28300038 )
2017
15
Diagnosis and Management of Acquired Cystic Kidney Disease and Renal Tumors in ESRD Patients. ( 28543535 )
2017
16
Diagnostic and therapeutic challenges of an ambiguous cystic kidney disease in a resource limited setting: a case report. ( 28249589 )
2017
17
A novel mutation in the hepatocyte nuclear factor-1I^ gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report. ( 28912863 )
2017
18
MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene. ( 28766492 )
2017
19
Xanthogranulomatous pyelonephritis presenting as a type IV renal cyst. ( 28522934 )
2017
20
Primary Cilia in Cystic Kidney Disease. ( 28409350 )
2017
21
Cystic kidney disease: A new osmoregulatory role for HNF-1I^. ( 28579614 )
2017
22
Simple Renal Cysts as Markers of Thoracic Aortic Disease. ( 26746998 )
2016
23
Tubulocystic renal cell carcinoma disguised as a renal cyst. ( 26684179 )
2016
24
Cystic kidney disease: mTORC1-PC-1 crosstalk in TSC. ( 26996330 )
2016
25
Hepatocyte Nuclear Factor 1I^-Associated Kidney Disease: More than Renal Cysts and Diabetes. ( 26319241 )
2016
26
Tuberous sclerosis complex: Hamartin and tuberin expression in renal cysts and its discordant expression in renal neoplasms. ( 27640314 )
2016
27
Progressive development of renal cysts in glycogen storage disease type I. ( 27436577 )
2016
28
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease. ( 27181777 )
2016
29
Soy Protein Alleviates Hypertension and Fish Oil Improves Diastolic Heart Function in the Han:SPRD-Cy Rat Model of Cystic Kidney Disease. ( 26626478 )
2016
30
Rapidly Progressive Renal Dysfunction in Two Elderly Patients with Renal Enlargement and Medullary Cystic Kidney Disease-like Acute Tubulointerstitial Injury. ( 27746439 )
2016
31
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. ( 26862157 )
2016
32
A rare cause of childhood renal cysts: Xp11.2 translocation renal cell carcinoma. ( 25624966 )
2015
33
Infected complex renal cysts during crizotinib therapy in a patient with non-small cell lung cancer positive for ALK rearrangement. ( 25433426 )
2015
34
Exploitation of the Polymeric Immunoglobulin Receptor for Antibody Targeting to Renal Cyst Lumens in Polycystic Kidney Disease. ( 25922073 )
2015
35
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. ( 25595726 )
2015
36
Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function. ( 26542298 )
2015
37
Simple renal cysts and hypertension are associated with angiotensinogen (AGT) gene variant in Shiraz population (Iran). ( 23907112 )
2015
38
MicroRNAs in the pathogenesis of cystic kidney disease. ( 25490692 )
2015
39
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. ( 25818408 )
2015
40
Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme. ( 26309449 )
2015
41
Combined Deletion of Vhl and Kif3a Accelerates Renal Cyst Formation. ( 25788526 )
2015
42
Spontaneous retroperitoneal hemorrhage presenting as hemoperitoneum secondary to renal cyst rupture in a peritoneal dialysis patient with acquired cystic kidney disease. ( 26199480 )
2015
43
Cystic kidney disease: a primer. ( 26088074 )
2015
44
The role of cilia in the pathogenesis of cystic kidney disease. ( 25575298 )
2015
45
Re: Hasegawa EM, Fuller R, Chammas MC, de Mello FM, Goldenstein-Schainberg C: Increased prevalence of simple renal cysts in patients with gout. Rheumatol Int, DOI 10.1007/s00296-012-2380-x. ( 23377532 )
2014
46
An unusual case of familial cystic kidney disease. ( 25878781 )
2014
47
Anoctamin 1 induces calcium-activated chloride secretion and proliferation of renal cyst-forming epithelial cells. ( 24152967 )
2014
48
Impact of size of region-of-interest on differentiation of renal cell carcinoma and renal cysts on multi-phase CT: Preliminary findings. ( 24239241 )
2014
49
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. ( 24509297 )
2014
50
Asymptomatic proteinuria, renal cysts and dorsal pancreas agenesis. ( 25852921 )
2014

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_225delGGTACTACGAGACC deletion Likely pathogenic rs1057518761 GRCh37 Chromosome 10, 102510450: 102510463
12 PAX2 NM_003990.4(PAX2): c.213-1_225delGGTACTACGAGACC 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
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)
# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.8 CRB2 MUC1 PKHD1 UMOD
2 cell projection GO:0042995 9.73 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP3
3 ciliary basal body GO:0036064 9.67 IFT88 NPHP4 PKD2 PKHD1
4 motile cilium GO:0031514 9.62 IFT88 NPHP1 PKD1 PKD2
5 ciliary transition zone GO:0035869 9.58 CC2D2A NPHP4 TMEM67
6 MKS complex GO:0036038 9.46 CC2D2A TMEM67
7 ciliary membrane GO:0060170 9.46 PKD1 PKD2 TMEM67 UMOD
8 cilium GO:0005929 9.4 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP3
9 polycystin complex GO:0002133 9.26 PKD1 PKD2
10 cytoplasm GO:0005737 10.32 BCAR1 CC2D2A IFT88 INVS MUC1 NEK8
11 cytoskeleton GO:0005856 10.03 CC2D2A IFT88 INVS NEK8 NPHP1 NPHP4

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.83 CC2D2A IFT88 NPHP1 TMEM67
2 heart development GO:0007507 9.83 CC2D2A NEK8 PKD1 PKD2 TSC2
3 cell-cell adhesion GO:0098609 9.78 NPHP1 NPHP4 PKD1 PKHD1
4 cilium assembly GO:0060271 9.77 CC2D2A IFT88 NPHP3 PKHD1 TMEM67
5 liver development GO:0001889 9.76 HNF1B PKD1 PKD2
6 ciliary basal body-plasma membrane docking GO:0097711 9.71 CC2D2A NPHP1 NPHP4 TMEM67
7 branching morphogenesis of an epithelial tube GO:0048754 9.63 EGF HNF1B PKD1
8 determination of left/right symmetry GO:0007368 9.62 CC2D2A NEK8 NPHP3 PKD2
9 embryonic placenta development GO:0001892 9.61 PKD1 PKD2
10 renal system development GO:0072001 9.61 PKD1 PKD2
11 detection of mechanical stimulus GO:0050982 9.6 PKD1 PKD2
12 placenta blood vessel development GO:0060674 9.59 PKD1 PKD2
13 kidney morphogenesis GO:0060993 9.58 HNF1B NPHP3
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 9.55 NPHP3 PKD2
17 kidney development GO:0001822 9.55 HNF1B NPHP3 PKD1 PKD2 PKHD1
18 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.54 PKD1 PKD2
19 visual behavior GO:0007632 9.51 NPHP1 NPHP4
20 positive regulation of bicellular tight junction assembly GO:1903348 9.49 NPHP1 NPHP4
21 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
22 mesonephric duct development GO:0072177 9.13 HNF1B PKD1 PKD2
23 metanephric ascending thin limb development GO:0072218 8.8 PKD1 PKD2 UMOD

Sources for Cystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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