MCID: CYS039
MIFTS: 54

Cystic Kidney Disease

Categories: Nephrological diseases
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Aliases & Classifications for Cystic Kidney Disease

MalaCards integrated aliases for Cystic Kidney Disease:

Name: Cystic Kidney Disease 11 53 14 16 75 31
Renal Cyst 11 28 53 5 71
Simple Renal Cyst 71 33
Congenital Cystic Kidney Disease 71
Kidney Diseases, Cystic 43
Cystic Kidney Diseases 71
Bosniak 1 Cyst 33
Cystic Kidney 71
Kidney Cysts 41
Renal Cysts 14
Kidney Cyst 16

Classifications:



External Ids:

Disease Ontology 11 DOID:2975
MeSH 43 D052177
ICD10 31 Q61 Q61.9
ICD11 33 1435131505
UMLS 71 C0022679 C0268800 C0311245 more

Summaries for Cystic Kidney Disease

MedlinePlus: 41 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 tubulointerstitial kidney disease, autosomal dominant, 2 and renal cysts and diabetes syndrome. An important gene associated with Cystic Kidney Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. The drugs Palonosetron and Ondansetron have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone marrow, and related phenotypes are Increased cell migration and renal/urinary system

Wikipedia: 75 Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions and... 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 572)
# Related Disease Score Top Affiliating Genes
1 tubulointerstitial kidney disease, autosomal dominant, 2 33.9 UMOD MUC1 HNF1B
2 renal cysts and diabetes syndrome 33.5 UMOD PKHD1 HNF1B
3 tubulointerstitial kidney disease, autosomal dominant, 1 33.5 UMOD PAX2 NPHP4 NPHP3 NPHP1 MUC1
4 nephronophthisis 33.0 UMOD TMEM67 PKHD1 PKD2 PKD1 NPHP4
5 polycystic kidney disease 32.7 VHL UMOD TSC2 TSC1 TMEM67 PKHD1
6 senior-loken syndrome 1 32.6 TMEM67 NPHP4 NPHP3 NPHP1 INVS CC2D2A
7 nephronophthisis 1 32.6 PKD1 NPHP4 NPHP3 NPHP1 INVS BCAR1
8 coach syndrome 1 32.5 TMEM67 NPHP4 NPHP3 NPHP1 INVS CC2D2A
9 renal dysplasia, cystic 32.4 UMOD PKHD1 PKD1 NPHP3 DNAJB11
10 arima syndrome 32.4 NPHP4 CC2D2A
11 kidney disease 32.3 UMOD TSC2 TSC1 PKHD1 PKD2 PKD1
12 polycystic kidney disease 3 with or without polycystic liver disease 32.2 PKD2 PKD1
13 autosomal dominant polycystic kidney disease 32.0 UMOD TSC2 TSC1 TMEM67 PKHD1 PKD2
14 polycystic kidney disease 4 with or without polycystic liver disease 31.8 UMOD TSC2 TMEM67 PKHD1 PKD2 PKD1
15 meckel syndrome, type 1 31.8 TMEM67 PKHD1 PKD2 PKD1 NPHP4 NPHP3
16 juvenile nephronophthisis 31.8 NPHP4 NPHP3 NPHP1 INVS
17 end stage renal disease 31.8 PKD2 PKD1 PAX2 NPHP4 NPHP3 INVS
18 chronic kidney disease 31.6 UMOD PKD2 PKD1 PAX2 NPHP1 INVS
19 multicystic dysplastic kidney 31.5 PKD2 PKD1 PAX2
20 polycystic kidney disease 1 with or without polycystic liver disease 31.5 TSC2 TSC1 TMEM67 PKHD1 PKD2 PKD1
21 meckel syndrome, type 3 31.3 TMEM67 CC2D2A
22 meckel syndrome, type 5 31.1 NPHP4 NPHP1
23 nephronophthisis 2 31.1 NPHP4 NPHP3 NPHP1 INVS CC2D2A
24 infantile nephronophthisis 31.0 NPHP3 INVS
25 tuberous sclerosis 31.0 VHL TSC2 TSC1 PKD1
26 tuberous sclerosis 1 31.0 TSC2 TSC1
27 bardet-biedl syndrome 30.8 TMEM67 PKHD1 PKD2 PKD1 PAX2 NPHP4
28 joubert syndrome 1 30.8 TMEM67 PKHD1 PKD2 PKD1 NPHP4 NPHP3
29 polycystic liver disease 30.8 UMOD TSC2 TMEM67 PKHD1 PKD2 PKD1
30 oncocytoma 30.8 VHL PAX2 MUC1 HNF1B
31 hemangioma 30.7 VHL TSC2 TSC1 PKD1 MUC1
32 cakut 30.6 UMOD PKHD1 PAX2 NPHP4 NPHP3 NPHP1
33 caroli disease 30.6 PKHD1 PKD2 PKD1 NPHP3 NPHP1 INVS
34 polycystic liver disease 1 with or without kidney cysts 30.6 TSC2 TSC1 PKHD1 PKD2 PKD1 NPHP4
35 vesicoureteral reflux 30.6 UMOD PKHD1 PAX2 HNF1B
36 situs inversus 30.6 TMEM67 PKD2 PKD1 NPHP4 NPHP3 NPHP1
37 polycystic kidney disease 2 with or without polycystic liver disease 30.6 PKHD1 PKD2 PKD1 HNF1B DNAJB11
38 congenital hepatic fibrosis 30.6 PKHD1 PKD2 PKD1
39 nephronophthisis 9 30.6 NPHP4 NPHP3 INVS
40 ureterocele 30.6 PAX2 NPHP1
41 maturity-onset diabetes of the young 30.6 UMOD PKHD1 PAX2 HNF1B
42 hydrocephalus 30.6 NPHP4 NPHP3 NPHP1 INVS
43 oligohydramnios 30.5 TMEM67 PKHD1 PKD1 PAX2 NPHP3 NPHP1
44 nephronophthisis 7 30.5 NPHP4 INVS
45 von hippel-lindau syndrome 30.5 VHL TSC2 PKD1
46 cranioectodermal dysplasia 30.5 TMEM67 PKD2 NPHP4 NPHP1 INVS CC2D2A
47 coloboma of macula 30.4 TMEM67 PAX2 NPHP4 NPHP1 CC2D2A
48 renal hypoplasia 30.4 PAX2 HNF1B FAT4
49 encephalocele 30.4 TMEM67 CC2D2A
50 renal hypodysplasia/aplasia 1 30.4 PKHD1 PAX2 HNF1B

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 Increased cell migration GR00055-A-1 8.62 PKD2
2 Increased cell migration GR00055-A-3 8.62 PKD2

MGI Mouse Phenotypes related to Cystic Kidney Disease:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.38 CC2D2A FAT4 HNF1B INVS NPHP1 NPHP3
2 growth/size/body region MP:0005378 10.34 BCAR1 CC2D2A CRB2 FAT4 HNF1B INVS
3 nervous system MP:0003631 10.27 CC2D2A CRB2 FAT4 NPHP1 NPHP3 NPHP4
4 embryo MP:0005380 10.21 BCAR1 CC2D2A CRB2 FAT4 HNF1B INVS
5 cellular MP:0005384 10.21 BCAR1 CC2D2A CRB2 FAT4 HNF1B INVS
6 liver/biliary system MP:0005370 10.2 BCAR1 HNF1B INVS MUC1 PKD1 PKD2
7 endocrine/exocrine gland MP:0005379 10.14 HNF1B INVS MUC1 NPHP1 PAX2 PKD1
8 cardiovascular system MP:0005385 10.11 BCAR1 CC2D2A CRB2 DNAJB11 FAT4 INVS
9 digestive/alimentary MP:0005381 10.06 CC2D2A CRB2 FAT4 HNF1B INVS MUC1
10 mortality/aging MP:0010768 9.53 BCAR1 CC2D2A CRB2 DNAJB11 FAT4 HNF1B
11 respiratory system MP:0005388 9.5 CC2D2A FAT4 INVS PKD1 PKD2 PKHD1

Drugs & Therapeutics for Cystic Kidney Disease

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Palonosetron Approved, Investigational 119904-90-4, 135729-56-5 148211 6337614
2
Ondansetron Approved, Withdrawn 99614-02-5 4595
3
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
4
Coal tar Approved 8007-45-2
5
Ramosetron Investigational 132036-88-5 4442 108000
6 Neurotransmitter Agents
7 Antipsychotic Agents
8 Anti-Anxiety Agents
9 Psychotropic Drugs
10 Antiemetics
11 Serotonin 5-HT3 Receptor Antagonists
12 Gastrointestinal Agents
13 Dermatologic Agents
14 Epinephryl borate
15 Liver Extracts
16
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Multicenter, Open-label, Extension Study to Characterize the Long-term Efficacy and Safety of Early Versus Delayed Treatment With Venglustat (GZ/SAR402671) in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Terminated NCT04705051 Phase 3 Venglustat GZ402671
2 Contrast-enhanced Ultrasound for Complex Kidney Lesion Diagnosis in Patients With CKD (CEUS CKD) Completed NCT02684435 Phase 2 Perflutren lipid microsphere
3 Contrast-enhanced Ultrasound for Complex Kidney Lesion Diagnosis in Patients With CKD Extension (CEUS CKDx) Completed NCT03196076 Phase 2 Perflutren Lipid microsphere
4 The Potential of Radiomics to Differentiate Between Malignant and Benign Bosniak 3 Renal Cysts. Unknown status NCT03552497
5 Measurement of Renal Functional Reserve Change In Patients With Simple Renal Cysts Before and After Laparoscopic Deroofing Unknown status NCT03259594 100 g of amino acids supplementation
6 Efficacy and Safety of Microwave Ablation in BosniakⅠ~ⅡF Cystic Renal Lesions: Clinical Outcomes of a Randomised Controlled Trial Unknown status NCT03068195
7 Prospective Trial for Examining Hematuria Using Computed Tomography Completed NCT04077359
8 Robot-assisted Partial Nephrectomy Versus Laparoscopic Partial Nephrectomy: A Prospective, Randomised, Single-blind Trial Comparing Two Surgical Techniques Completed NCT03900364
9 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
10 Evaluation of Complex Renal Cystic Lesions With Contrast Enhanced Ultrasound (CEUS) and Functional MRI Versus the Gold Standard: Computer Tomography (CT) Completed NCT02371551
11 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
12 Does Hounsfield Unit (HU) Predict the Detection of Cystic Renal Malignancy of Complicated Renal Cysts? Completed NCT01087060
13 The Effect of Renal Cysts on Laboratory Diagnostics of Primary Aldosteronism Completed NCT05435703
14 Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases Completed NCT01312727
15 Role of Split Bolus Dual Energy Single Acquisition CT in Evaluation of Urological Diseases of the Upper Urinary Tract. Completed NCT02160600
16 Surveillance of Complex Renal Cysts - The SOCRATIC Study Recruiting NCT04558593
17 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
18 Contrast-enhanced Ultrasound for the Evaluation of Complex Renal Cysts Recruiting NCT01353521
19 Evaluation of Performance and Safety of App KidneYou, an Innovative Digital Therapy, in Improving Health of Patients With Chronic Kidney Disease (CKD) by Increasing Their Adherence to Dietary, Exercise Regimens or Mindfulness Program Recruiting NCT05286632
20 Surveillance of Complex Renal Cysts - the SOCRATIC Pilot Study Active, not recruiting NCT04079764
21 Influence of Simple Renal Cysts on Renal Function: Cohort Clinical Trial. Not yet recruiting NCT05134077
22 A Prospective Multicenter Trial Comparing Surgery Versus Active Surveillance In Patients With Bosniak 3 Renal Cystic Masses, A NoRenCa And FinnKidney Study Not yet recruiting NCT04670887

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

Organs/tissues related to Cystic Kidney Disease:

MalaCards : Kidney, Liver, Bone Marrow, Pancreas, Adrenal Gland, Lung, Spinal Cord

Publications for Cystic Kidney Disease

Articles related to Cystic Kidney Disease:

(show top 50) (show all 5123)
# Title Authors PMID Year
1
Renal cyst mimicking hydronephrosis after uterine artery ligation for postpartum haemorrhage. 62 41
36407372 2022
2
Association of simple renal cysts with metabolic syndrome in adults. 62 41
36408037 2022
3
Implication of cystic fluid cytology of renal cell carcinoma on surgical practice. 41
36434618 2022
4
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review. 53 62
20497759 2010
5
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. 53 62
20172860 2010
6
Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. 53 62
20150540 2010
7
Activation of AMP-activated kinase as a strategy for managing autosomal dominant polycystic kidney disease. 53 62
19570618 2009
8
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 53 62
19346236 2009
9
[Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]. 53 62
19361964 2009
10
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. 53 62
19321600 2009
11
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease. 53 62
19194729 2009
12
Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD). 53 62
19646202 2009
13
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 53 62
19303681 2009
14
A short carboxy-terminal domain of polycystin-1 reorganizes the microtubular network and the endoplasmic reticulum. 53 62
19331813 2009
15
ERK regulates renal cell proliferation and renal cyst expansion in inv mutant mice. 53 62
19492026 2009
16
Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice. 53 62
19098310 2009
17
Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease. 53 62
19056484 2009
18
Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway. 53 62
19008302 2009
19
Immature renal structures associated with a novel UMOD sequence variant. 53 62
18950917 2009
20
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). 53 62
18846391 2009
21
Sporadic clear cell renal cell carcinoma but not the papillary type is characterized by severely reduced frequency of primary cilia. 53 62
18660794 2009
22
Nephronophthisis: disease mechanisms of a ciliopathy. 53 62
19118152 2009
23
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. 53 62
18845692 2009
24
pVHL and PTEN tumour suppressor proteins cooperatively suppress kidney cyst formation. 53 62
18497742 2008
25
Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. 53 62
18286309 2008
26
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 53 62
18218308 2008
27
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. 53 62
17828387 2007
28
Nephronophthisis-associated ciliopathies. 53 62
17513324 2007
29
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. 53 62
17287951 2007
30
pVHL and GSK3beta are components of a primary cilium-maintenance signalling network. 53 62
17450132 2007
31
Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion. 53 62
17127696 2007
32
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? 53 62
17418405 2007
33
TRP channels and kidney disease: lessons from polycystic kidney disease. 53 62
17233617 2007
34
Endothelin B receptor blockade accelerates disease progression in a murine model of autosomal dominant polycystic kidney disease. 53 62
17202412 2007
35
Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair? 53 62
17102641 2006
36
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 53 62
16971658 2006
37
The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells. 53 62
16790429 2006
38
Primary cilium formation requires von hippel-lindau gene function in renal-derived cells. 53 62
16849532 2006
39
Crystal-induced arthropathies: recent investigative advances. 53 62
16582687 2006
40
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 53 62
15930087 2006
41
TSC2, a key player in tumor suppression and cystic kidney disease. 53 62
17373211 2006
42
Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease. 53 62
16399078 2006
43
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. 53 62
16207829 2005
44
Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line. 53 62
16297991 2005
45
Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. 53 62
16932376 2005
46
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. 53 62
16308564 2005
47
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. 53 62
15983957 2005
48
The multiple functions of Tamm-Horsfall protein in human health and disease: a mystery clears up. 53 62
15989109 2005
49
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions. 53 62
15770226 2005
50
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. 53 62
15496559 2004

Variations for Cystic Kidney Disease

ClinVar genetic disease variations for Cystic Kidney Disease:

5 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD1 NM_001009944.3(PKD1):c.9432_9433del (p.Val3145fs) DEL Pathogenic
1172618 GRCh37: 16:2150532-2150533
GRCh38: 16:2100531-2100532
2 DNAJB11 NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter) SNV Pathogenic
1172653 GRCh37: 3:186289885-186289885
GRCh38: 3:186572096-186572096
3 PKHD1 NM_138694.4(PKHD1):c.5081dup (p.Val1695fs) DUP Pathogenic
374180 rs1057518952 GRCh37: 6:51889526-51889527
GRCh38: 6:52024728-52024729
4 PKHD1 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) SNV Pathogenic
189110 rs786204707 GRCh37: 6:51908434-51908434
GRCh38: 6:52043636-52043636
5 CC2D2A NM_001378615.1(CC2D2A):c.4179+1del DEL Pathogenic
56312 rs386833760 GRCh37: 4:15589552-15589552
GRCh38: 4:15587929-15587929
6 overlap with 2 genes DEL Pathogenic
374036 GRCh37: 3:10175483-10183579
GRCh38: 3:10133799-10141895
7 PKD1 NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) SNV Pathogenic
433972 rs1555454411 GRCh37: 16:2158681-2158681
GRCh38: 16:2108680-2108680
8 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Likely Pathogenic
1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
9 PAX2 NM_003990.3(PAX2):c.213-1_225delGGTACTACGAGACC DEL Likely Pathogenic
373907 rs1057518761 GRCh37: 10:102510450-102510463
GRCh38: 10:100750693-100750706
10 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Likely Pathogenic
217725 rs752362727 GRCh37: 8:94798483-94798483
GRCh38: 8:93786255-93786255
11 CC2D2A NM_001378615.1(CC2D2A):c.1497del (p.Glu500fs) DEL Likely Pathogenic
1077135 GRCh37: 4:15534845-15534845
GRCh38: 4:15533222-15533222
12 PKD1 NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp) SNV Likely Pathogenic
374044 rs1057518856 GRCh37: 16:2152398-2152398
GRCh38: 16:2102397-2102397
13 PKHD1 NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) SNV Likely Pathogenic
550835 rs749294509 GRCh37: 6:51889479-51889479
GRCh38: 6:52024681-52024681
14 PKHD1 NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs) DUP Likely Pathogenic
1172603 GRCh37: 6:51892632-51892633
GRCh38: 6:52027834-52027835
15 UNC13C NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter) SNV Uncertain Significance
982686 rs777064285 GRCh37: 15:54305383-54305383
GRCh38: 15:54013186-54013186
16 PKD1 NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met) SNV Uncertain Significance
374154 rs376176735 GRCh37: 16:2162931-2162931
GRCh38: 16:2112930-2112930

Copy number variations for Cystic Kidney Disease from CNVD:

6
# 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 Renal cysts
3 109752 17 28800000 35400000 Deletion 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

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 ciliary transition zone GO:0035869 9.88 TMEM67 NPHP4 CC2D2A
2 ciliary membrane GO:0060170 9.76 UMOD TMEM67 PKD2 PKD1
3 cation channel complex GO:0034703 9.73 PKD2 PKD1
4 cell projection GO:0042995 9.73 BCAR1 CC2D2A INVS NPHP1 NPHP3 NPHP4
5 TSC1-TSC2 complex GO:0033596 9.62 TSC2 TSC1
6 polycystin complex GO:0002133 9.56 PKD2 PKD1
7 cilium GO:0005929 9.55 UMOD TMEM67 PKHD1 PKD2 PKD1 NPHP4
8 ciliary inversin compartment GO:0097543 9.54 NPHP3 INVS

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 10.11 PKHD1 PKD1 NPHP4 NPHP1 FAT4
2 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 10.08 UMOD FAT4 CRB2
3 photoreceptor cell maintenance GO:0045494 10.02 NPHP4 NPHP3 CRB2
4 cell projection organization GO:0030030 10 TSC1 TMEM67 NPHP1 CC2D2A
5 neural tube closure GO:0001843 9.97 TSC2 TSC1 PAX2 CC2D2A
6 branching involved in ureteric bud morphogenesis GO:0001658 9.96 PKD2 PAX2 FAT4
7 metanephric collecting duct development GO:0072205 9.93 PKD1 PAX2
8 metanephric mesenchyme development GO:0072075 9.92 PKD2 PAX2
9 cytoplasmic sequestering of transcription factor GO:0042994 9.91 PKD2 PKD1
10 branching morphogenesis of an epithelial tube GO:0048754 9.91 PKHD1 PKD1 HNF1B
11 protein localization to ciliary transition zone GO:1904491 9.9 NPHP4 CC2D2A
12 positive regulation of bicellular tight junction assembly GO:1903348 9.89 NPHP4 NPHP1
13 ureter development GO:0072189 9.88 NPHP3 PAX2
14 determination of liver left/right asymmetry GO:0071910 9.88 PKD2 NPHP3
15 pronephros development GO:0048793 9.87 PAX2 HNF1B
16 visual behavior GO:0007632 9.81 NPHP1 NPHP4
17 kidney morphogenesis GO:0060993 9.8 NPHP3 HNF1B
18 metanephric distal convoluted tubule development GO:0072221 9.8 PAX2 UMOD
19 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.78 PAX2 HNF1B
20 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.71 PAX2 FAT4
21 mesonephric duct development GO:0072177 9.65 PKD2 PKD1 HNF1B
22 cell-cell signaling by wnt GO:0198738 9.62 PKD1 PKD2
23 nephric duct formation GO:0072179 9.58 PAX2 HNF1B
24 mesonephric tubule development GO:0072164 9.55 PKD2 PKD1 HNF1B
25 kidney development GO:0001822 9.5 UMOD TSC1 PKHD1 PKD2 PKD1 NPHP3
26 metanephric ascending thin limb development GO:0072218 9.43 UMOD PKD2 PKD1

Sources for Cystic Kidney Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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