MCID: CYS039
MIFTS: 54

Cystic Kidney Disease

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cystic Kidney Disease

MalaCards integrated aliases for Cystic Kidney Disease:

Name: Cystic Kidney Disease 12 54 15 17 32
Renal Cyst 12 29 54 6 71
Congenital Cystic Kidney Disease 71
Kidney Diseases, Cystic 43
Cystic Kidney Diseases 71
Simple Renal Cyst 71
Cystic Kidney 71
Kidney Cysts 42
Renal Cysts 15
Kidney Cyst 17

Classifications:



External Ids:

Disease Ontology 12 DOID:2975
MeSH 43 D052177
ICD10 32 Q61 Q61.9
UMLS 71 C0022679 C0268800 C0311245 more

Summaries for Cystic Kidney Disease

MedlinePlus : 42 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 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Glioblastoma Multiforme. The drugs Curcumin and Pravastatin 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 : 74 Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions. With... more...

Related Diseases for Cystic Kidney Disease

Diseases in the Cystic Kidney Disease family:

Familial Cystic Renal Disease

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

(show top 50) (show all 441)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease 34.8 UMOD MUC1 HNF1B
2 hyperuricemic nephropathy, familial juvenile, 1 34.5 UMOD NPHP4 NPHP1 MUC1 HNF1B
3 nephronophthisis 34.5 UMOD TMEM67 PKHD1 PKD2 PKD1 NPHP4
4 senior-loken syndrome 1 33.7 TMEM67 NPHP4 NPHP3 NPHP1 NEK8 INVS
5 polycystic kidney disease 1 with or without polycystic liver disease 33.6 UMOD TSC2 TSC1 PKHD1 PKD2 PKD1
6 nephronophthisis 1 33.4 PKD1 NPHP4 NPHP3 NPHP1 INVS BCAR1
7 caroli disease 32.8 PKHD1 PKD2 PKD1 NPHP3 NPHP1 INVS
8 autosomal dominant polycystic kidney disease 32.7 TSC2 TSC1 PKHD1 PKD2 PKD1 HNF1B
9 polycystic kidney disease 32.7 TSC2 TSC1 TMEM67 PKHD1 PKD2 PKD1
10 juvenile nephronophthisis 32.6 NPHP4 NPHP3 NPHP1 INVS
11 meckel syndrome, type 1 32.6 TMEM67 PKHD1 PKD2 PKD1 NPHP4 NPHP3
12 polycystic kidney disease 4 with or without polycystic liver disease 32.6 UMOD TSC2 TMEM67 PKHD1 PKD2 PKD1
13 kidney disease 32.4 UMOD TSC2 TSC1 TMEM67 PKHD1 PKD2
14 multicystic dysplastic kidney 32.3 PKD2 PKD1
15 meckel syndrome, type 3 31.9 TMEM67 NPHP4 NPHP3 NPHP1 INVS IFT88
16 meckel syndrome, type 4 31.9 TMEM67 NPHP3 NPHP1
17 meckel syndrome, type 2 31.9 TMEM67 NPHP4 NPHP1
18 meckel syndrome, type 6 31.9 TMEM67 NPHP4 NPHP1
19 meckel syndrome, type 5 31.9 TMEM67 NPHP4 NPHP1
20 renal cell carcinoma, nonpapillary 31.7 VHL TSC2 TSC1 MUC1 HNF1B EGF
21 infantile nephronophthisis 31.7 NPHP4 NPHP3 NEK8 INVS
22 joubert syndrome 4 31.7 TMEM67 NPHP4 NPHP3 NPHP1
23 tuberous sclerosis 31.3 VHL TSC2 TSC1 PKD1
24 chronic kidney disease 31.2 UMOD PKD2 PKD1 NPHP1 INVS HNF1B
25 nephronophthisis 2 31.2 TMEM67 NPHP4 NPHP3 NPHP1 NEK8 INVS
26 bardet-biedl syndrome 31.1 TMEM67 PKHD1 PKD2 PKD1 NPHP4 NPHP3
27 retinal degeneration 31.1 TMEM67 NPHP4 NPHP3 NPHP1 IFT88
28 meckel syndrome, type 8 31.1 TMEM67 NPHP3
29 von hippel-lindau syndrome 31.0 VHL TSC2 PKD1
30 congenital hepatic fibrosis 31.0 TMEM67 PKHD1 PKD1
31 orofaciodigital syndrome 31.0 TMEM67 NPHP4 NPHP1 INVS IFT88
32 kidney cancer 31.0 VHL TSC2 TSC1 EGF
33 polycystic liver disease 30.8 TMEM67 PKHD1 PKD2 PKD1 NEK8 INVS
34 nephronophthisis 7 30.8 TMEM67 NPHP4 NPHP3 NPHP1 NEK8 INVS
35 nephronophthisis 9 30.8 TMEM67 NPHP4 NPHP3 NPHP1 NEK8 INVS
36 polycystic kidney disease 2 with or without polycystic liver disease 30.7 TMEM67 PKHD1 PKD2 PKD1 NPHP4 NEK8
37 polycystic liver disease 1 with or without kidney cysts 30.7 UMOD TSC2 TSC1 PKHD1 PKD2 PKD1
38 joubert syndrome 1 30.6 TSC2 TMEM67 PKHD1 PKD2 PKD1 NPHP4
39 coloboma of macula 30.5 TMEM67 NPHP4 NPHP3 NPHP1
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.5 TSC2 TSC1
41 chromophobe renal cell carcinoma 30.4 VHL MUC1 HNF1B
42 medullary cystic kidney disease 1 13.0
43 medullary cystic kidney disease 2 12.9
44 ventriculomegaly with cystic kidney disease 12.8
45 polycystic liver disease 4 with or without kidney cysts 12.6
46 polycystic liver disease 2 with or without kidney cysts 12.6
47 multiloculated renal cyst 12.4
48 autosomal dominant tubulointerstitial kidney disease, umod-related 12.0
49 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.9
50 medullary sponge kidney 11.7

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 9.43 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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 BCAR1 CRB2 FAT4 IFT88 INVS NEK8
2 cellular MP:0005384 10.38 BCAR1 CRB2 FAT4 IFT88 INVS NPHP1
3 growth/size/body region MP:0005378 10.3 BCAR1 CRB2 EGF FAT4 HNF1B IFT88
4 embryo MP:0005380 10.25 BCAR1 CRB2 FAT4 HNF1B IFT88 INVS
5 digestive/alimentary MP:0005381 10.2 CRB2 EGF FAT4 IFT88 INVS NEK8
6 endocrine/exocrine gland MP:0005379 10.14 EGF HNF1B IFT88 INVS NPHP1 PKD1
7 mortality/aging MP:0010768 10.13 BCAR1 CRB2 FAT4 HNF1B IFT88 INVS
8 liver/biliary system MP:0005370 10.06 BCAR1 HNF1B IFT88 INVS PKD1 PKD2
9 nervous system MP:0003631 9.9 CRB2 FAT4 IFT88 NPHP1 NPHP3 NPHP4
10 renal/urinary system MP:0005367 9.86 FAT4 HNF1B IFT88 INVS NEK8 NPHP1
11 respiratory system MP:0005388 9.23 FAT4 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 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
2
Pravastatin Approved Phase 3 81093-37-0 54687
3
Octreotide Approved, Investigational Phase 3 83150-76-9 6400441 383414
4
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
5
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
6
Metformin Approved Phase 3 657-24-9 4091 14219
7
Tolvaptan Approved Phase 3 150683-30-0 216237
8
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
9
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
10
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
11
Lactitol Investigational Phase 3 585-88-6, 585-86-4 493591
12 Hypolipidemic Agents Phase 3
13 Anticholesteremic Agents Phase 3
14 Antimetabolites Phase 3
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
16 Lipid Regulating Agents Phase 3
17 Pharmaceutical Solutions Phase 3
18 Hormone Antagonists Phase 3
19 Coagulants Phase 2, Phase 3
20 Vasoconstrictor Agents Phase 2, Phase 3
21 Hemostatics Phase 2, Phase 3
22 Hormones Phase 3
23 Hypoglycemic Agents Phase 3
24 Natriuretic Agents Phase 3
25 Vasopressins Phase 3
26 Arginine Vasopressin Phase 3
27 Immunologic Factors Phase 2, Phase 3
28 Anti-Infective Agents Phase 2, Phase 3
29 Antibiotics, Antitubercular Phase 2, Phase 3
30 Antifungal Agents Phase 2, Phase 3
31 Immunosuppressive Agents Phase 2, Phase 3
32 Anti-Bacterial Agents Phase 2, Phase 3
33
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
34
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
35
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
36
Indian frankincense Approved, Experimental, Investigational Phase 1, Phase 2
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
38
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
40
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
41
Uric acid Investigational Phase 1, Phase 2 69-93-2 1175
42 Trace Elements Phase 2
43 Vitamins Phase 2
44 Vitamin B Complex Phase 2
45 Micronutrients Phase 2
46 Vitamin B3 Phase 2
47 Nutrients Phase 2
48 Vitamin B9 Phase 2
49 Vasodilator Agents Phase 2
50 Folate Phase 2

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4 Curcumin
2 Does An Abnormal PFA 100 Predict Bleeding After Renal Biopsy? Terminated NCT00334204 Phase 4
3 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
4 Effect of a Long-acting Somatostatin on Disease Progression in Nephropathy Due to Autosomal Dominant Polycystic Kidney Disease: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3 Long-acting somatostatin
5 Low Osmolar Diet and Adjusted Water Intake for Vasopressin Suppression in ADPKD Completed NCT02225860 Phase 2, Phase 3
6 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
7 Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease. A Phase 3a, Indipendent, Multicentre, Two Parallel Arms, Randomized Controlled Trial Not yet recruiting NCT03764605 Phase 3 Metformin;Tolvaptan
8 Everolimus on CKD (Chronic Kidney Disease) Progression in ADPKD Patients Terminated NCT01009957 Phase 2, Phase 3 Everolimus
9 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
10 Contrast-enhanced Ultrasound for Complex Kidney Lesion Diagnosis in Patients With CKD (CEUS CKD) Completed NCT02684435 Phase 2 Perflutren lipid microsphere
11 Randomized, Controlled Pilot Study of Niacinamide in Polycystic Kidney Disease Completed NCT02558595 Phase 2
12 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
13 An International, Multicenter, Randomized Controlled Clinical Trial Assessing the Efficacy of Ursodeoxycholic Acid as a Volume Reducing Treatment in Symptomatic Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
14 Sirolimus Treatment in Patients With ADPKD Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
15 Contrast-enhanced Ultrasound for Complex Kidney Lesion Diagnosis in Patients With CKD Extension (CEUS CKDx) 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 (Boswellic Acid): A Clinical Randomized Trial Not yet recruiting NCT03924596 Phase 1, Phase 2 AKBA-Incense (3-acetyl-11-keto-ß-boswellic acid);Potassium Sodium Hydrogen Citrate
18 New Prognostic Classification of Acute Pyelonephritis With Adaptation of the Therapeutic. Prospective Randomized Study in the Emergency Terminated NCT01628900 Phase 2
19 Evaluation of Complex Renal Cystic Lesions With Contrast Enhanced Ultrasound (CEUS) and Functional MRI Versus the Gold Standard: Computer Tomography (CT) Completed NCT02371551
20 Does Hounsfield Unit (HU) Predict the Detection of Cystic Renal Malignancy of Complicated Renal Cysts? Completed NCT01087060
21 Prophylactic Effects of Ondansetron, Ramosetron, and Palonosetron on Patient-Controlled Analgesia Related Nausea and Vomiting After Urologic Laparoscopic Surgery Completed NCT01169805 Ondansetron;Ramosetron;Palonosetron;Normal saline inj
22 Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases Completed NCT01312727
23 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
24 The Effect of Water Loading on Urinary Biomarkers Completed NCT00784030
25 Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) II Completed NCT01039987
26 Comparison of LMA Proseal and LMA Supreme for Efficient Ventilation During Lateral Positioned Laparoscopic Surgeries Completed NCT02852135
27 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
28 Evaluation and Treatment of Chronic Pain in Autosomal Dominant Polycystic Kidney Disease Completed NCT00571909
29 Perfusion Scanning's for Kidney Tumors Completed NCT01971905
30 Contrast-enhanced Ultrasound for the Evaluation of Complex Renal Cysts Recruiting NCT01353521
31 The Potential of Radiomics to Differentiate Between Malignant and Benign Bosniak 3 Renal Cysts. Recruiting NCT03552497
32 Surveillance of Complex Renal Cysts - the SOCRATIC Pilot Study Recruiting NCT04079764
33 Efficacy and Safety of Microwave Ablation in BosniakⅠ~ⅡF Cystic Renal Lesions: Clinical Outcomes of a Randomised Controlled Trial Recruiting NCT03068195
34 A Prospective Observational Study of Foam Sclerotherapy for the Treatment of Symptomatic Kidney or Liver Cysts in Patients With Autosomal Dominant Polycystic Kidney and Liver Disease. Recruiting NCT04111692
35 Polycystic Kidney Disease (PKD) Biomarkers Study Recruiting NCT02936791
36 Renal Cancer Detection Using Convolutional Neural Networks Recruiting NCT03857373
37 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
38 Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository Recruiting NCT03901521
39 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study Recruiting NCT02112136
40 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
41 Endogenous Molecule Profiling in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT03717883
42 SWIDINEP a Swiss Diabetic Nephropathy Cohort Recruiting NCT03407989
43 Daily Caloric Restriction and Intermittent Fasting in Overweight and Obese Adults With Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT03342742
44 Measurement of Renal Functional Reserve Change In Patients With Simple Renal Cysts Before and After Laparoscopic Deroofing Not yet recruiting NCT03259594 100 g of amino acids supplementation
45 Study Evaluating the Interest of Cytology-molecular Tumor Markers Association for the Diagnostic Strategy in Adult Kidney Tumors 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 29

Anatomical Context for Cystic Kidney Disease

MalaCards organs/tissues related to Cystic Kidney Disease:

40
Kidney, Liver, Testes, Bone, Pancreas, Brain, Thyroid

Publications for Cystic Kidney Disease

Articles related to Cystic Kidney Disease:

(show top 50) (show all 2276)
# Title Authors PMID Year
1
Re: The Impact of Potassium Citrate Therapy in the Natural Course of Medullary Sponge Kidney with Associated Nephrolithiasis. 42
31532287 2019
2
Laparoscopic transposition of lower pole crossing vessels in children with extrinsic pelvi-ureteric junction obstruction: a worthy alternative to dismembered pyeloplasty. 42
31630723 2019
3
Polycystic Kidney Disease and Renal Fibrosis. 42
31399962 2019
4
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. 61 54
20172860 2010
5
Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. 54 61
20150540 2010
6
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 54 61
19346236 2009
7
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 61 54
19303681 2009
8
ERK regulates renal cell proliferation and renal cyst expansion in inv mutant mice. 54 61
19492026 2009
9
Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice. 61 54
19098310 2009
10
Immature renal structures associated with a novel UMOD sequence variant. 61 54
18950917 2009
11
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). 61 54
18846391 2009
12
Nephronophthisis: disease mechanisms of a ciliopathy. 54 61
19118152 2009
13
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 54 61
18218308 2008
14
Nephronophthisis-associated ciliopathies. 54 61
17513324 2007
15
TRP channels and kidney disease: lessons from polycystic kidney disease. 61 54
17233617 2007
16
Endothelin B receptor blockade accelerates disease progression in a murine model of autosomal dominant polycystic kidney disease. 61 54
17202412 2007
17
The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells. 61 54
16790429 2006
18
Crystal-induced arthropathies: recent investigative advances. 54 61
16582687 2006
19
TSC2, a key player in tumor suppression and cystic kidney disease. 61 54
17373211 2006
20
Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease. 61 54
16399078 2006
21
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. 54 61
16207829 2005
22
Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. 61 54
16932376 2005
23
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. 61 54
16308564 2005
24
A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. 54 61
15983957 2005
25
The multiple functions of Tamm-Horsfall protein in human health and disease: a mystery clears up. 54 61
15989109 2005
26
The P2X7 ATP receptor modulates renal cyst development in vitro. 54 61
15325248 2004
27
A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. 54 61
15269167 2004
28
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 54 61
15086896 2004
29
A transcriptional network in polycystic kidney disease. 54 61
15029248 2004
30
Drosophila Pkd2 is haploid-insufficient for mediating optimal smooth muscle contractility. 54 61
14732716 2004
31
Tamm-Horsfall glycoprotein: biology and clinical relevance. 61 54
14520616 2003
32
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. 54 61
12900848 2003
33
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. 61 54
12839032 2003
34
Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. 61 54
12460054 2002
35
Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. 54 61
12006559 2002
36
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. 61 54
12140187 2002
37
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. 61 54
11730273 2001
38
Role of CFTR in autosomal recessive polycystic kidney disease. 54 61
11274233 2001
39
Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. 61 54
10739664 2000
40
Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease. 54 61
10694420 2000
41
Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. 61 54
10655555 2000
42
The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease. 54 61
11212307 1999
43
Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. 61 54
9827727 1998
44
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. 54 61
9734362 1998
45
Somatic inactivation of Pkd2 results in polycystic kidney disease. 61 54
9568711 1998
46
Human simple renal cyst fluid contains a cyst formation-promoting activity for Madin-Darby canine kidney cells cultured in collagen gel. 61 54
8817166 1996
47
[Growth factors in tubular cells]. 61 54
7563623 1995
48
Epidermal growth factor precursor is present in a variety of human renal cyst fluids. 54 61
7861486 1995
49
Renal cysts in transgenic mice expressing transforming growth factor-alpha. 61 54
8083581 1994
50
Functional similarities of hepatic cystic and biliary epithelium: studies of fluid constituents and in vivo secretion in response to secretin. 61 54
1970324 1990

Variations for Cystic Kidney Disease

ClinVar genetic disease variations for Cystic Kidney Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VHL deletion Pathogenic 374036 3:10175483-10183579 3:10133799-10141895
2 PKHD1 NM_138694.4(PKHD1):c.5081dup (p.Val1695fs)duplication Pathogenic 374180 rs1057518952 6:51889527-51889527 6:52024729-52024729
3 TMEM67 NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
4 PKHD1 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)SNV Pathogenic/Likely pathogenic 189110 rs786204707 6:51908434-51908434 6:52043636-52043636
5 TMEM67 NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
6 PAX2 NM_003990.4(PAX2):c.213-1_225deldeletion Likely pathogenic 373907 rs1057518761 10:102510450-102510463 10:100750693-100750706
7 PKD1 NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)SNV Likely pathogenic 374044 rs1057518856 16:2152398-2152398 16:2102397-2102397
8 PKD1 NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met)SNV Uncertain significance 374154 rs376176735 16:2162931-2162931 16:2112930-2112930

Copy number variations for Cystic Kidney Disease from CNVD:

7
# CNVD ID Chromosome 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 TMEM67 PKD2 PKD1 NPHP4 NPHP3 NPHP1
2 11.38 TSC2 TSC1 EGF
3
Show member pathways
11.16 PKD2 PKD1 NPHP3

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 cytoplasm GO:0005737 10.38 VHL TSC2 TSC1 TMEM67 PKHD1 PKD2
2 cytoskeleton GO:0005856 10.08 TSC1 TMEM67 PKHD1 NPHP4 NPHP1 NEK8
3 centrosome GO:0005813 9.92 TMEM67 PKHD1 NPHP4 NEK8 IFT88
4 motile cilium GO:0031514 9.8 PKD2 PKD1 NPHP1 IFT88
5 ciliary basal body GO:0036064 9.76 PKHD1 PKD2 NPHP4 IFT88
6 cell projection GO:0042995 9.73 UMOD TSC1 TMEM67 PKHD1 PKD2 PKD1
7 ciliary base GO:0097546 9.61 NPHP4 NEK8 IFT88
8 ciliary transition zone GO:0035869 9.58 TMEM67 NPHP4 NPHP1
9 non-motile cilium GO:0097730 9.54 PKD2 NPHP4 IFT88
10 cation channel complex GO:0034703 9.51 PKD2 PKD1
11 ciliary membrane GO:0060170 9.46 UMOD TMEM67 PKD2 PKD1
12 cilium GO:0005929 9.36 UMOD TMEM67 PKHD1 PKD2 PKD1 NPHP4
13 TSC1-TSC2 complex GO:0033596 9.32 TSC2 TSC1
14 polycystin complex GO:0002133 9.26 PKD2 PKD1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.93 VHL UMOD TSC2 TSC1 PKD2
2 heart development GO:0007507 9.89 TSC2 PKD2 PKD1 NEK8
3 Wnt signaling pathway GO:0016055 9.86 PKD2 PKD1 NPHP3 INVS
4 cilium assembly GO:0060271 9.83 TMEM67 PKHD1 NPHP3 IFT88
5 cell projection organization GO:0030030 9.81 TSC1 TMEM67 NPHP1 IFT88
6 ciliary basal body-plasma membrane docking GO:0097711 9.79 TMEM67 NPHP4 NPHP1
7 liver development GO:0001889 9.76 PKD2 PKD1 HNF1B
8 determination of left/right symmetry GO:0007368 9.74 PKD2 NPHP3 NEK8
9 cell-cell adhesion GO:0098609 9.72 PKHD1 PKD1 NPHP4 NPHP1 FAT4
10 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.63 UMOD FAT4 CRB2
11 placenta blood vessel development GO:0060674 9.62 PKD2 PKD1
12 kidney morphogenesis GO:0060993 9.61 NPHP3 HNF1B
13 detection of mechanical stimulus GO:0050982 9.6 PKD2 PKD1
14 cytoplasmic sequestering of transcription factor GO:0042994 9.58 PKD2 PKD1
15 branching morphogenesis of an epithelial tube GO:0048754 9.58 PKD1 HNF1B EGF
16 regulation of calcium ion import GO:0090279 9.55 PKD2 EGF
17 positive regulation of bicellular tight junction assembly GO:1903348 9.49 NPHP4 NPHP1
18 determination of liver left/right asymmetry GO:0071910 9.48 PKD2 NPHP3
19 visual behavior GO:0007632 9.43 NPHP4 NPHP1
20 mesonephric tubule development GO:0072164 9.43 PKD2 PKD1 HNF1B
21 cell-cell signaling by wnt GO:0198738 9.37 PKD2 PKD1
22 mesonephric duct development GO:0072177 9.33 PKD2 PKD1 HNF1B
23 kidney development GO:0001822 9.23 TSC1 PKHD1 PKD2 PKD1 NPHP3 IFT88
24 metanephric ascending thin limb development GO:0072218 9.13 UMOD PKD2 PKD1

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 9.58 VHL TSC2 TSC1 TMEM67 PKHD1 PKD2
2 Wnt-activated receptor activity GO:0042813 8.96 PKD1 EGF

Sources for Cystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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