Summaries for Cystic Kidney

Sources:
23MedlinePlus, 44Wikipedia, 22MalaCards
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MedlinePlus: A cyst is a fluid-filled sac. there are two types of kidney cysts. polycystic kidney disease (pkd) runs in families. in pkd, the cysts take the place of the normal tissue. they enlarge the kidneys and make them work poorly, leading to kidney failure. when pkd causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. 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. symptoms of pkd include pain in the back and lower sides headaches urinary tract infections blood in the urine doctors diagnose pkd with imaging tests and family history. treatments include medications, and, when people with pkd develop kidney failure, dialysis or kidney transplants. acquired cystic kidney disease (ackd) usually happens in people who are on dialysis. unlike pkd, the kidneys are normal sized, and cysts do not form in other parts of the body. people with ackd already have chronic kidney disease when they develop cysts. ackd often has no symptoms. in most cases, the cysts are harmless and do not need treatment. nih: national institute of diabetes and digestive and kidney diseases23

MalaCards: Cystic Kidney, also known as cystic kidney disease, is related to nephronophthisis and umod-associated kidney disease. An important gene associated with Cystic Kidney is UMOD (uromodulin), and among its related pathways are Selected targets of HNF1 and CCKBR-Gastrin Stimulated Signaling. The compounds trp-p-2 and pd 145065 have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Wikipedia: Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions. With...44 more...

Aliases & Descriptions for Cystic Kidney

Sources:
6Disease Ontology, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 23MedlinePlus, 43UMLS, 27NCIt, 24MeSH
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Aliases & Descriptions:

cystic kidney 6 8 43
cystic kidney disease 6 32
kidney cysts 17 23
renal cyst 6 32
cystic disease of kidney (disorder) 6
congenital cystic kidney disease 43
cystic kidney diseases 43
cystic disease, nos 43
kidney cyst 6

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NCIt27 C3970

Related Diseases for Cystic Kidney

Sources:
13GeneCards, 14GeneDecks
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Diseases related to cystic kidney by text searches and GeneDecks gene sharing:

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis33.9UMOD, PKD1, PKD2
2umod-associated kidney disease33.1UMOD, MCKD2
3familial juvenile hyperuricaemic nephropathy31.5UMOD, MCKD2
4polycystic kidney disease29.3PKD1, PKHD1
5glomerulocystic kidney disease29.3UMOD, MCKD2, HNF1B
6polycystic liver disease29.3PKD1, PKD2, PKHD1
7familial juvenile hyperuricemic nephropathy29.1UMOD, HNF1B
8renal cell carcinoma28.3VHL, CLU, UMOD, JUN, CCL26, HNF1B
9end stage renal failure27.8UMOD, XPNPEP3, ALB, NPHP4, EPO
10von hippel-lindau disease27.0REN, VHL, CLU, PKD1, TSC2, EPO
11chronic kidney failure26.9REN, ALB, EPO
12nephropathy25.8REN, CLU, UMOD, XPNPEP3, JUN, CD14
13anemia25.8REN, CNTLN, VHL, CLU, XPNPEP3, CD14
14obesity23.8REN, CLU, CEP290, JUN, CD14, MKS1
15pancreatitis21.8REN, VHL, CLU, JUN, CD14, INVS
16carcinoma21.0REN, VHL, CLU, BCAR1, UMOD, JUN
17glomerulocystic kidney disease with hyperuricemia and isosthenuria13.8UMOD, MCKD2
18polycystic kidney disease 2, autosomal dominant13.8PKD1, PKD2
19polycystic kidney disease, autosomal dominant13.7PKD1, PKD2
20renal-hepatic-pancreatic dysplasia13.7INVS, PKHD1, NPHP3
21nephronophthisis 413.7NPHP1, NPHP4
22polycystic kidney disease, autosomal recessive13.7IFT88, PKHD1
23toxic epidermal necrolysis13.6EDNRA, EDNRB
24nephronopthisis13.6UMOD, ANKS6, NPHP1, NPHP3, NPHP4
25exfoliation syndrome13.6CLU, EDNRA, EDNRB
26situs inversus13.5KIF3A, INVS, PKD2, NPHP1, NPHP3, NPHP4
27angiomatosis13.5VHL, CCL26, TSC2
28cep290-related bardet-biedl syndrome13.4CEP290, TMEM67
29nephronophthisis 113.4BCAR1, INVS, PKD1, AHI1, NPHP1, NPHP3
30rhyns syndrome13.4CEP290, NPHP1, NPHP4, NPR1
31coach syndrome13.4CC2D2A, TMEM67, RPGRIP1L
32orofaciodigital syndrome13.4KIF3A, CEP290, IFT88, OFD1
33congenital hepatic fibrosis13.3CC2D2A, TMEM67, RPGRIP1L, PKHD1
34coloboma13.0CEP290, CC2D2A, TMEM67, RPGRIP1L, NPHP1
35aortic disease12.9REN, CCL26, TSC2
36joubert syndrome and related disorders12.9CEP290, INVS, CC2D2A, TMEM67, RPGRIP1L, AHI1
37cerebellar ataxia12.8ARL13B, CC2D2A, TMEM67, OFD1, RPGRIP1L, AHI1
38fundus dystrophy12.8CEP290, ARL13B, CC2D2A, TMEM67, RPGRIP1L, AHI1
39encephalocele12.8B9D1, B9D2, CEP290, MKS1, CC2D2A, TMEM67
40encephaloceles12.8B9D1, B9D2, CEP290, MKS1, CC2D2A, TMEM67
41meckel syndrome12.8B9D1, B9D2, CEP290, MKS1, CC2D2A, TMEM67
42leber congenital amaurosis12.8CNTLN, CEP290, TMEM67, RPGRIP1L, NPHP3, NPHP4
43stickler syndrome12.7CEP290, JUN, EGF, NPHP1, NPHP4
44asphyxiating thoracic dystrophy12.7ARL13B, INVS, CC2D2A, TMEM67, OFD1, RPGRIP1L
45small cell carcinoma12.7CD14, ALB, HNF1B, TSC2, NEK8
46bardet-biedl syndrome12.7KIF3A, CEP290, MKS1, ARL13B, INVS, IFT88
47multicystic renal dysplasia, bilateral12.7REN, CEP290, MKS1, TMEM67
48mayer-rokitansky-kuster-hauser syndrome12.7VHL, CCL26, PKD1, PKD2, EDNRB, TSC2
49early-onset ataxia with oculomotor apraxia and hypoalbuminemia12.6CEP290, ARL13B, CC2D2A, TMEM67, OFD1, RPGRIP1L
50oculomotor apraxia12.6CEP290, ARL13B, CC2D2A, TMEM67, OFD1, RPGRIP1L

Graphical network of the top 20 diseases related to cystic kidney:



Graphical network of diseases related to cystic kidney

Clinical Features for Cystic Kidney

Drugs & Therapeutics for Cystic Kidney

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for cystic kidney

Drug clinical trials:

Search ClinicalTrials for cystic kidney

Search NIH Clinical Center for cystic kidney

Search CenterWatch for cystic kidney

Genetic Tests for Cystic Kidney

Anatomical Context for Cystic Kidney

Sources:
22MalaCards
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MalaCards organs/tissues related to cystic kidney:

22
Kidney, Liver

Phenotypes for genes affiliated with Cystic Kidney

Sources:
25MGI
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MGI Mouse Phenotypes related to cystic kidney:

25 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1endocrine/exocrine gland phenotypeMP:00053799.8NEK1, NPR1, EDNRA, PKD2, IFT88, BICC1
2hematopoietic system phenotypeMP:00053978.6EPO, NEK1, NPHP3, TSC2, PKHD1, INVS
3liver/biliary system phenotypeMP:00053708.6HNF1B, RPGRIP1L, PKD1, PKD2, TSC2, EPO
4limbs/digits/tail phenotypeMP:00053718.0PTK2, OFD1, RPGRIP1L, PKD1, EDNRB, IFT88
5vision/eye phenotypeMP:00053917.9RPGRIP1L, EDNRB, EGF, AHI1, NPHP1, NPHP4
6skeleton phenotypeMP:00053907.9OFD1, RPGRIP1L, PKD1, EDNRA, EDNRB, NPHP3
7muscle phenotypeMP:00053697.8PRKD1, EDNRB, EDNRA, PKD1, PTK2, HNF1B
8craniofacial phenotypeMP:00053827.8RPGRIP1L, PKD1, EDNRA, EDNRB, NPHP3, NEK1
9embryogenesis phenotypeMP:00053807.4CC2D2A, IFT88, TMEM67, PTK2, OFD1, RPGRIP1L
10respiratory system phenotypeMP:00053887.4OFD1, RPGRIP1L, PKD1, PKD2, PKHD1, EDNRA
11digestive/alimentary phenotypeMP:00053817.2OFD1, PKD1, PKD2, PKHD1, EDNRA, EDNRB
12immune system phenotypeMP:00053876.2PKD1, PKD2, PKHD1, EDNRA, EDNRB, EGF
13cellular phenotypeMP:00053846.2PKD1, PKD2, PKHD1, EDNRB, AHI1, TSC2
14nervous system phenotypeMP:00036315.6OFD1, RPGRIP1L, PKD1, PKHD1, EDNRA, EDNRB
15renal/urinary system phenotypeMP:00053675.5NEK8, ALB, IFT88, INVS, FJX1, MKS1
16cardiovascular system phenotypeMP:00053855.4RPGRIP1L, PKD1, PKD2, PKHD1, EDNRA, EDNRB
17growth/size phenotypeMP:00053784.4PKD1, RPGRIP1L, OFD1, PTK2, TMEM67, HNF1B
18homeostasis/metabolism phenotypeMP:00053764.2PTK2, PKD1, PKD2, EDNRA, EDNRB, AHI1
19mortality/agingMP:00107682.9EPO, NEK8, NEK1, REN, IFT88, INVS

Publications for genes affiliated with Cystic Kidney

Sources:
35PubMed
See all sources

Articles related to cystic kidney:

(show all 27)
idTitleAuthorsYearAffiliating Genes
1Renal CD14 expression correlates with the progression of cystic kidney disease. (20555320)Zhou J.... Mrug M.2010CD14
2Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. (19303681)Simpson M.A.... Crosby A.H.2009NPHP3
3Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease. (18604206)Saburi S.... McNeill H.2008FJX1
4Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. (17825558)Davenport J.R.... Yoder B.K.2007IFT88
5TSC2, a key player in tumor suppression and cystic kidney disease. (17373211)Cai S.L.... Walker C.L.2006TSC2, PKD1
6C-jun activation in acquired cystic kidney disease and renal cell carcinoma. (16006965)Oya M.... Murai M.2005JUN
7Clinico-pathologic findings in medullary cystic kidney disease type 2. (15844001)Bleyer A.J.... Trachtman H.2005UMOD
8A 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. (15983957)Lens X.M.... Barrio-Lucia V.2005UMOD
9Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. (16932376)Lebrun G.... Grunfeld J.P.2005HNF1B
10A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. (15269167)Sun Z.... Hopkins N.2004HNF1B
11Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. (12832729)Scolari F.... Casari G.2003UMOD, NPHP1, MCKD1
12Nephronophthisis-medullary cystic kidney disease: from bedside to bench and back again. (17657103)Scolari F.... Ghiggeri G.M.2003NPHP1
13Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. (12839032)Casari G.... Amoroso A.2003UMOD
14Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. (12471200)Hart T.C.... Bleyer A.J.2002UMOD
15Pathogenesis of cystic kidney diseases (12647363)Walz G.2002TSC2, VHL, PKD1
16The genes and proteins associated with poly-cystic kidney diseases. (12536190)Wilson P.D.2002PTK2, PKD2, NPHP1
17Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1. (11851379)Koptides M.... Deltas C.C.2001NPR1, MCKD1
18Further evidence for linkage of autosomal-dominant me dullary cystic kidney disease on chromosome 1q21. (11576336)Auranen M.... JAorvelAo I.2001NPR1
19New insights: nephronophthisis-medullary cystic kidney disease. (11261687)Hildebrandt F.... Omram H.2001NPHP1, INVS, NPHP3
20Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. (11730273)Pirulli D.... Casari G.2001UMOD
21Molecular genetics of nephronophthisis and medullary cystic kidney disease. (10966501)Hildebrandt F.... Otto E.2000NPHP1
22Obstructive nephropathy: lessons from cystic kidney disease. (10644902)Chevalier R.L.2000EGF, CLU
23Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. (9536096)Christodoulou K.... Constantinou Deltas C.1998MCKD1
24Change in prostanoid metabolism in cystic kidney lesion (9606841)Komarevtseva I.A.... SenchiA- V.N.1997REN
25Severity of acquired cystic kidney disease determines improvement in chronic kidney failure anemia (9224984)Bezerra H.M.... de Almeida J.B.1997ALB
26Acquired cystic kidney disease: the hormonal hypothes is. (8497993)Concolino G.... Di Silverio F.1993EGF
27Anemia in dialysis: its relation to acquired cystic kidney disease and serum levels of erythropoietin. (2048573)FAcrnandez A.... Palop L.1991EPO

Expression for genes affiliated with Cystic Kidney

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Cystic Kidney

Pathways for genes affiliated with Cystic Kidney

Sources:
10EMD Millipore, 36QIAGEN, 41Thomson Reuters
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Pathways related to cystic kidney according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Selected targets of HNF1109.5PKD2, HNF1B, ALB, UMOD
2CCKBR-Gastrin Stimulated Signaling368.8BCAR1, JUN, PTK2, EGF
3Signal transduction PTEN pathway108.7BCAR1, TSC2, EGF, PTK2, JUN
4Signal transduction_PTEN pathway418.6TSC2, EGF, PTK2, JUN, BCAR1

Compounds for genes affiliated with Cystic Kidney

Sources:
32Novoseek , 9DrugBank, 42Tocris Bioscience, 34PharmGKB, 18HMDB
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Compounds related to cystic kidney according to GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1trp-p-232 10.6PKD2, PKD1
2pd 14506532 10.4EDNRB, EDNRA
3sitaxsentan32 10.3EDNRB, EDNRA
4darusentan32 10.1EDNRB, EDNRA, REN
5cocl232 10.0EPO, EDNRA, VHL
6ornipressin32 9.6ALB, REN
7inulin32 9.5REN, CLU, ALB
8aminoguanidine32 9 9 11.4EPO, ALB, CLU
9cobalt chloride32 9.2VHL, PTK2, EDNRA, EPO
10rapamycin32 42 10.1TSC2, EGF, PKD1, PTK2, CCL26, VHL
11ro 31 822032 9.1EGF, PTK2, JUN
12irbesartan32 9 9 11.0ALB, JUN, REN
13ang ii32 8.9EGF, EDNRA, PTK2, REN
14losartan32 34 9 9 11.9EDNRB, EDNRA, ALB, REN
15rottlerin32 42 9.8PRKD1, EGF, PTK2, JUN
16herbimycin a32 42 9.7EGF, PTK2, CD14, JUN, BCAR1
17vitamin d32 8.7EPO, NPR1, EDNRA, ALB, CD14, JUN
18phosphoinositide32 8.5PRKD1, TSC2, EGF, EDNRA, PTK2, JUN
19sodium32 18 9.4NPR1, EDNRB, EDNRA, PKD2, PKD1, PTK2
20wortmannin32 42 9.4PRKD1, TSC2, EGF, EDNRA, PTK2, CD14
21steroid32 8.1TSC2, EGF, EDNRB, EDNRA, PTK2, CD14
22ly29400232 8.0EPO, TSC2, EGF, PTK2, CD14, JUN
23oxygen32 18 8.8EPO, PRKD1, TSC2, EDNRB, EDNRA, PTK2
24pge232 7.8EDNRB, EDNRA, PTK2, CD14, JUN, REN
25butyrate32 7.8EPO, EGF, PTK2, CD14, JUN, CLU
26cysteine32 7.6NPR1, EGF, EDNRB, EDNRA, PTK2, ALB
27phosphatidylinositol32 7.5EDNRB, EGF, TSC2, PRKD1, EPO, EDNRA
28serine32 7.3EDNRB, EGF, TSC2, PRKD1, NPR1, NEK1
29calcitriol32 42 9 18 9 11.1EPO, EGF, PTK2, ALB, CD14, JUN
30vegf32 6.8REN, EPO, PRKD1, TSC2, EGF, EDNRB
31calcium32 9 18 9 9.7PKD1, PKD2, PKHD1, EDNRA, EDNRB, EGF

GO Terms for genes affiliated with Cystic Kidney

Sources:
12Gene Ontology
See all sources

Cellular components related to cystic kidney according to GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1motile primary ciliumGO:03151210.3PKD2, PKD1, IFT88
2photoreceptor connecting ciliumGO:03239110.1CEP290, IFT88, NPHP1
3polycystin complexGO:00213310.0PKD1, PKD2
4primary ciliumGO:0723729.9NEK8, NPHP3, AHI1, PKHD1, UMOD, KIF3A
5cilium axonemeGO:0350859.9NPHP1, RPGRIP1L, IFT88, B9D2, B9D1, WDR35
6cell-cell junctionGO:0059119.6NPHP4, NPHP1, PRKD1, AHI1, PKD2, RPGRIP1L
7ciliumGO:0059299.6NPHP4, NPHP3, AHI1, PKD2, PKD1, RPGRIP1L
8TCTN-B9D complexGO:0360389.5AHI1, TMEM67, CC2D2A, MKS1, CEP290, B9D2
9centrioleGO:0058149.5AHI1, OFD1, IFT88, CNTLN
10microtubule basal bodyGO:0059328.7WDR35, NPHP4, AHI1, PKHD1, PKD2, RPGRIP1L
11centrosomeGO:0058138.1OFD1, RPGRIP1L, PKHD1, AHI1, NPHP4, NEK1
12extracellular spaceGO:0056157.5EPO, EGF, ALB, CCL26, FJX1, CD14

Biological processes related to cystic kidney according to GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1metanephric ascending thin limb developmentGO:07221810.5UMOD, PKD1, PKD2
2mesonephric tubule developmentGO:07216410.3PKD1, PKD2
3endothelin receptor signaling pathwayGO:08610010.2EDNRB, EDNRA
4determination of left/right symmetryGO:00736810.1NPHP3, PKD2, RPGRIP1L, IFT88, ARL13B
5visual behaviorGO:00763210.0NPHP1, NPHP4
6branching morphogenesis of a tubeGO:04875410.0EGF, PKD1, HNF1B, MKS1
7hindbrain developmentGO:03090210.0CEP290, HNF1B, AHI1
8kidney developmentGO:0018229.5PKHD1, PKD1, RPGRIP1L, HNF1B, INVS, REN
9cilium morphogenesisGO:0602719.3NPHP3, AHI1, OFD1, TMEM67, IFT88, CC2D2A
10positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:20000609.2CLU, PTK2, EGF
11cilium assemblyGO:0423848.7WDR35, NEK1, AHI1, PKHD1, RPGRIP1L, TMEM67
12negative regulation of apoptotic processGO:0430668.1EPO, AHI1, EDNRA, PTK2, HNF1B, ALB

Molecular functions related to cystic kidney according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endothelin receptor activityGO:00496210.3EDNRA, EDNRB
2protein bindingGO:0055154.0KIF3A, PKD1, PKD2, PKHD1, EGF, AHI1

Sources for Cystic Kidney

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS