MCID: CYS039
MIFTS: 55

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 55 15 17 33
Renal Cyst 12 29 55 6 72
Congenital Cystic Kidney Disease 72
Kidney Diseases, Cystic 44
Cystic Kidney Diseases 72
Simple Renal Cyst 72
Cystic Kidney 72
Kidney Cysts 43
Renal Cysts 15
Kidney Cyst 17

Classifications:



External Ids:

Disease Ontology 12 DOID:2975
MeSH 44 D052177
ICD10 33 Q61 Q61.9
UMLS 72 C0022679 C0268800 C0311245 more

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 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 : 75 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 428)
# 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 MUC1 HNF1B
3 senior-loken syndrome 1 33.1 XPNPEP3 TMEM67 NPHP4 NPHP3 NPHP1 INVS
4 nephronophthisis-like nephropathy 1 33.1 XPNPEP3 NPHP1
5 nephronophthisis 1 33.1 PKD1 NPHP4 NPHP3 NPHP1 INVS
6 nephronophthisis 32.7 XPNPEP3 UMOD TMEM67 PKHD1 PKD2 PKD1
7 caroli disease 32.6 PKHD1 PKD1
8 juvenile nephronophthisis 32.4 NPHP4 NPHP3 NPHP1 INVS
9 polycystic kidney disease 1 with or without polycystic liver disease 32.3 TSC2 TSC1 PKHD1 PKD2 PKD1 NPHP3
10 multicystic dysplastic kidney 32.2 PKD2 PKD1
11 meckel syndrome, type 1 32.1 TMEM67 NPHP4 NPHP1 INVS IFT88
12 polycystic kidney disease 31.9 TSC2 PKHD1 PKD2 PKD1 NEK8 IFT88
13 late-onset nephronophthisis 31.8 XPNPEP3 NPHP3
14 meckel syndrome, type 6 31.6 TMEM67 NPHP4 NPHP1 INVS
15 autosomal dominant polycystic kidney disease 31.6 TSC2 TSC1 PKHD1 PKD2 PKD1 HNF1B
16 infantile nephronophthisis 31.4 NPHP4 NPHP3 NEK8 INVS
17 polycystic kidney disease 4 with or without polycystic liver disease 31.3 TSC2 TMEM67 PKHD1 PKD2 PKD1 NEK8
18 meckel syndrome, type 3 31.3 TMEM67 NPHP1
19 renal cell carcinoma, nonpapillary 31.2 VHL TSC2 TSC1 MUC1 HNF1B
20 tuberous sclerosis 30.9 VHL TSC2 TSC1 PKD1
21 kidney disease 30.9 UMOD TMEM67 PKHD1 PKD2 PKD1 NPHP1
22 nephronophthisis 2 30.8 NPHP4 NPHP3 NPHP1 NEK8 INVS
23 congenital hepatic fibrosis 30.7 TMEM67 PKHD1 PKD1
24 bardet-biedl syndrome 30.7 TMEM67 PKD1 NPHP4 NPHP1 INVS
25 polycystic liver disease 30.6 PKHD1 PKD2 PKD1
26 kidney angiomyolipoma 30.4 TSC2 TSC1
27 polycystic kidney disease 2 with or without polycystic liver disease 30.2 PKHD1 PKD2 PKD1 IFT88 HNF1B
28 joubert syndrome 1 30.1 TMEM67 NPHP4 NPHP3 NPHP1 INVS IFT88
29 nephronophthisis 9 30.0 XPNPEP3 PKHD1 NPHP4 NPHP3 NPHP1 NEK8
30 polycystic liver disease 1 with or without kidney cysts 29.3 UMOD TSC2 TSC1 PKHD1 PKD2 PKD1
31 medullary cystic kidney disease 1 13.0
32 medullary cystic kidney disease 2 12.9
33 ventriculomegaly with cystic kidney disease 12.8
34 polycystic liver disease 4 with or without kidney cysts 12.6
35 polycystic liver disease 2 with or without kidney cysts 12.5
36 multiloculated renal cyst 12.4
37 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.9
38 autosomal dominant tubulointerstitial kidney disease due to umod mutations 11.9
39 autosomal dominant tubulointerstitial kidney disease, umod-related 11.8
40 medullary sponge kidney 11.7
41 autosomal dominant tubulointerstitial kidney disease due to muc1 mutations 11.6
42 hepatocyte nuclear factor 1ß -associated disease 11.6
43 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.5
44 clpb deficiency 11.4
45 arima syndrome 11.3
46 coach syndrome 11.2
47 papillorenal syndrome 11.2
48 joubert syndrome 33 11.1
49 oligomeganephronia 11.1
50 peroxisome biogenesis disorder 1a 11.1

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 BCAR1 CRB2 IFT88 INVS NPHP1 NPHP3
2 cardiovascular system MP:0005385 10.36 BCAR1 CRB2 IFT88 INVS NEK8 NPHP3
3 growth/size/body region MP:0005378 10.31 BCAR1 CRB2 EGF HNF1B IFT88 INVS
4 embryo MP:0005380 10.23 BCAR1 CRB2 HNF1B IFT88 INVS NPHP3
5 endocrine/exocrine gland MP:0005379 10.17 EGF HNF1B IFT88 INVS NPHP1 PKD1
6 digestive/alimentary MP:0005381 10.13 CRB2 EGF IFT88 INVS PKD1 PKD2
7 homeostasis/metabolism MP:0005376 10.11 HNF1B IFT88 INVS NEK8 NPHP3 PKD1
8 mortality/aging MP:0010768 10.1 BCAR1 CRB2 HNF1B IFT88 INVS NEK8
9 liver/biliary system MP:0005370 10.06 BCAR1 HNF1B IFT88 INVS PKD1 PKD2
10 nervous system MP:0003631 9.85 CRB2 IFT88 NPHP1 NPHP3 NPHP4 PKD1
11 renal/urinary system MP:0005367 9.83 HNF1B IFT88 INVS NEK8 NPHP1 NPHP3
12 respiratory system MP:0005388 9.17 IFT88 INVS NEK8 PKD1 PKD2 PKHD1

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
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
2
Pravastatin Approved Phase 3 81093-37-0 54687
3
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
4
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
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
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 6436030 5284616 46835353
9
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
10
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
11
Lactitol Investigational Phase 3 585-86-4, 585-88-6 493591
12 Lipid Regulating Agents Phase 3
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
14 Hypolipidemic Agents Phase 3
15 Anticholesteremic Agents Phase 3
16 Antimetabolites Phase 3
17 Hormone Antagonists Phase 3
18 Pharmaceutical Solutions Phase 3
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
20 Coagulants Phase 2, Phase 3
21 Hemostatics Phase 2, Phase 3
22 Vasoconstrictor Agents Phase 2, Phase 3
23 Hormones Phase 3
24 Hypoglycemic Agents Phase 3
25 Natriuretic Agents Phase 3
26 Antidiuretic Hormone Receptor Antagonists Phase 3
27 Vasopressins Phase 3
28 Arginine Vasopressin Phase 3
29 Antifungal Agents Phase 2, Phase 3
30 Anti-Bacterial Agents Phase 2, Phase 3
31 Immunosuppressive Agents Phase 2, Phase 3
32 Antibiotics, Antitubercular Phase 2, Phase 3
33 Anti-Infective Agents Phase 2, Phase 3
34 Immunologic Factors Phase 2, Phase 3
35
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
36
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
37
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
38
Indian frankincense Approved, Experimental, Investigational Phase 1, Phase 2
39
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
40
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
41
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
42
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
43
Uric acid Investigational Phase 1, Phase 2 69-93-2 1175
44 Trace Elements Phase 2
45 Micronutrients Phase 2
46 Vitamins Phase 2
47 Folate Phase 2
48 Vitamin B9 Phase 2
49 Vitamin B Complex Phase 2
50 Nutrients Phase 2

Interventional clinical trials:

(show all 43)
# 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 Does Hounsfield Unit (HU) Predict the Detection of Cystic Renal Malignancy of Complicated Renal Cysts? Completed NCT01087060
20 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
21 Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases Completed NCT01312727
22 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
23 The Effect of Water Loading on Urinary Biomarkers Completed NCT00784030
24 Comparison of LMA Proseal and LMA Supreme for Efficient Ventilation During Lateral Positioned Laparoscopic Surgeries Completed NCT02852135
25 Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) II Completed NCT01039987
26 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
27 Evaluation and Treatment of Chronic Pain in Autosomal Dominant Polycystic Kidney Disease Completed NCT00571909
28 Perfusion Scanning's for Kidney Tumors Completed NCT01971905
29 Contrast-enhanced Ultrasound for the Evaluation of Complex Renal Cysts Recruiting NCT01353521
30 The Potential of Radiomics to Differentiate Between Malignant and Benign Bosniak 3 Renal Cysts. Recruiting NCT03552497
31 Efficacy and Safety of Microwave Ablation in BosniakⅠ~ⅡF Cystic Renal Lesions: Clinical Outcomes of a Randomised Controlled Trial Recruiting NCT03068195
32 Polycystic Kidney Disease (PKD) Biomarkers Study Recruiting NCT02936791
33 Renal Cancer Detection Using Convolutional Neural Networks Recruiting NCT03857373
34 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
35 Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository Recruiting NCT03901521
36 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study Recruiting NCT02112136
37 Endogenous Molecule Profiling in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT03717883
38 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
39 Daily Caloric Restriction and Intermittent Fasting in Overweight and Obese Adults With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03342742
40 SWIDINEP a Swiss Diabetic Nephropathy Cohort Recruiting NCT03407989
41 Evaluation of Complex Renal Cystic Lesions With Contrast Enhanced Ultrasound (CEUS) and Functional MRI Versus the Gold Standard: Computer Tomography (CT) Active, not recruiting NCT02371551
42 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
43 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:

41
Kidney, Liver, Testes, Bone, Pancreas, Brain, Thyroid

Publications for Cystic Kidney Disease

Articles related to Cystic Kidney Disease:

(show top 50) (show all 2239)
# Title Authors PMID Year
1
Renal cystic lesions characterization using spectral detector CT (SDCT): Added value of spectral results. 17
31124701 2019
2
Superb microvascular imaging is a rational choice for accurate Bosniak classification of renal cystic masses. 17
31067075 2019
3
ADPKD-what the radiologist should know. 17
31039325 2019
4
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. 9 38
20172860 2010
5
Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. 9 38
20150540 2010
6
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 9 38
19346236 2009
7
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 9 38
19303681 2009
8
ERK regulates renal cell proliferation and renal cyst expansion in inv mutant mice. 9 38
19492026 2009
9
Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice. 9 38
19098310 2009
10
Immature renal structures associated with a novel UMOD sequence variant. 9 38
18950917 2009
11
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). 9 38
18846391 2009
12
Nephronophthisis: disease mechanisms of a ciliopathy. 9 38
19118152 2009
13
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 9 38
18218308 2008
14
Nephronophthisis-associated ciliopathies. 9 38
17513324 2007
15
Endothelin B receptor blockade accelerates disease progression in a murine model of autosomal dominant polycystic kidney disease. 9 38
17202412 2007
16
TRP channels and kidney disease: lessons from polycystic kidney disease. 9 38
17233617 2007
17
The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells. 9 38
16790429 2006
18
Crystal-induced arthropathies: recent investigative advances. 9 38
16582687 2006
19
TSC2, a key player in tumor suppression and cystic kidney disease. 9 38
17373211 2006
20
Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease. 9 38
16399078 2006
21
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. 9 38
16207829 2005
22
Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. 9 38
16932376 2005
23
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. 9 38
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. 9 38
15983957 2005
25
The multiple functions of Tamm-Horsfall protein in human health and disease: a mystery clears up. 9 38
15989109 2005
26
The P2X7 ATP receptor modulates renal cyst development in vitro. 9 38
15325248 2004
27
A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. 9 38
15269167 2004
28
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 9 38
15086896 2004
29
A transcriptional network in polycystic kidney disease. 9 38
15029248 2004
30
Drosophila Pkd2 is haploid-insufficient for mediating optimal smooth muscle contractility. 9 38
14732716 2004
31
Tamm-Horsfall glycoprotein: biology and clinical relevance. 9 38
14520616 2003
32
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. 9 38
12900848 2003
33
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. 9 38
12839032 2003
34
Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. 9 38
12460054 2002
35
Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. 9 38
12006559 2002
36
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. 9 38
12140187 2002
37
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. 9 38
11730273 2001
38
Role of CFTR in autosomal recessive polycystic kidney disease. 9 38
11274233 2001
39
Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. 9 38
10739664 2000
40
Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease. 9 38
10694420 2000
41
Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. 9 38
10655555 2000
42
The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease. 9 38
11212307 1999
43
Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. 9 38
9827727 1998
44
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. 9 38
9734362 1998
45
Somatic inactivation of Pkd2 results in polycystic kidney disease. 9 38
9568711 1998
46
Human simple renal cyst fluid contains a cyst formation-promoting activity for Madin-Darby canine kidney cells cultured in collagen gel. 9 38
8817166 1996
47
[Growth factors in tubular cells]. 9 38
7563623 1995
48
Epidermal growth factor precursor is present in a variety of human renal cyst fluids. 9 38
7861486 1995
49
Renal cysts in transgenic mice expressing transforming growth factor-alpha. 9 38
8083581 1994
50
Functional similarities of hepatic cystic and biliary epithelium: studies of fluid constituents and in vivo secretion in response to secretin. 9 38
1970324 1990

Variations for Cystic Kidney Disease

ClinVar genetic disease variations for Cystic Kidney Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VHL deletion Pathogenic 3:10175483-10183579 3:10133799-10141895
2 PKHD1 NM_138694.4(PKHD1): c.5081dup (p.Val1695fs) duplication Pathogenic rs1057518952 6:51889527-51889527 6:52024729-52024729
3 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 8:94808198-94808198 8:93795970-93795970
4 PKHD1 NM_138694.4(PKHD1): c.2810G> A (p.Trp937Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204707 6:51908434-51908434 6:52043636-52043636
5 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 8:94798483-94798483 8:93786255-93786255
6 PAX2 NM_003990.4(PAX2): c.213-1_225del deletion Likely pathogenic rs1057518761 10:102510450-102510463 10:100750693-100750706
7 PKD1 NM_001009944.3(PKD1): c.9185T> A (p.Val3062Asp) single nucleotide variant Likely pathogenic rs1057518856 16:2152398-2152398 16:2102397-2102397
8 PKD1 NM_001009944.3(PKD1): c.3019G> A (p.Val1007Met) single nucleotide variant Uncertain significance rs376176735 16:2162931-2162931 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
11.89 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 12)
# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.81 UMOD PKHD1 MUC1 CRB2
2 motile cilium GO:0031514 9.78 PKD2 PKD1 NPHP1 IFT88
3 cell projection GO:0042995 9.73 UMOD TSC1 TMEM67 PKHD1 PKD2 PKD1
4 ciliary basal body GO:0036064 9.71 PKHD1 PKD2 NPHP4 IFT88
5 ciliary base GO:0097546 9.61 NPHP4 NEK8 IFT88
6 non-motile cilium GO:0097730 9.54 PKD2 NPHP4 IFT88
7 ciliary membrane GO:0060170 9.46 UMOD TMEM67 PKD2 PKD1
8 cilium GO:0005929 9.36 UMOD TMEM67 PKHD1 PKD2 PKD1 NPHP4
9 TSC1-TSC2 complex GO:0033596 9.32 TSC2 TSC1
10 polycystin complex GO:0002133 9.26 PKD2 PKD1
11 cytoplasm GO:0005737 10.37 XPNPEP3 VHL TSC2 TSC1 TMEM67 PKHD1
12 cytoskeleton GO:0005856 10.06 TSC1 TMEM67 PKHD1 NPHP4 NPHP1 NEK8

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.91 VHL UMOD TSC2 TSC1 PKD2
2 heart development GO:0007507 9.85 TSC2 PKD2 PKD1 NEK8
3 cilium assembly GO:0060271 9.8 TMEM67 PKHD1 NPHP3 IFT88
4 ciliary basal body-plasma membrane docking GO:0097711 9.77 TMEM67 NPHP4 NPHP1
5 cell projection organization GO:0030030 9.76 TSC1 TMEM67 NPHP1 IFT88
6 liver development GO:0001889 9.74 PKD2 PKD1 HNF1B
7 cell-cell adhesion GO:0098609 9.73 PKHD1 PKD1 NPHP4 NPHP1
8 determination of left/right symmetry GO:0007368 9.71 PKD2 NPHP3 NEK8
9 placenta blood vessel development GO:0060674 9.59 PKD2 PKD1
10 kidney morphogenesis GO:0060993 9.58 NPHP3 HNF1B
11 detection of mechanical stimulus GO:0050982 9.58 PKD2 PKD1
12 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD2 PKD1
13 regulation of calcium ion import GO:0090279 9.52 PKD2 EGF
14 branching morphogenesis of an epithelial tube GO:0048754 9.5 PKD1 HNF1B EGF
15 determination of liver left/right asymmetry GO:0071910 9.48 PKD2 NPHP3
16 mesonephric tubule development GO:0072164 9.43 PKD2 PKD1 HNF1B
17 visual behavior GO:0007632 9.4 NPHP4 NPHP1
18 positive regulation of bicellular tight junction assembly GO:1903348 9.37 NPHP4 NPHP1
19 mesonephric duct development GO:0072177 9.33 PKD2 PKD1 HNF1B
20 kidney development GO:0001822 9.17 TSC1 PKHD1 PKD2 PKD1 NPHP3 IFT88
21 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 XPNPEP3 VHL TSC2 TSC1 TMEM67 PKHD1

Sources for Cystic Kidney Disease

3 CDC
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