MCID: CYS016
MIFTS: 56

Cystic Kidney malady

Nephrological diseases category

Summaries for Cystic Kidney

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33MedlinePlus, 63Wikipedia, 32MalaCards
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MedlinePlus:33 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 diseases

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 Endothelins. The compounds trp-p-2 and [125i]et-1 have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and testes, and related mouse phenotypes are liver/biliary system and embryogenesis.

Wikipedia:63 Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions. With... more...

Aliases & Classifications for Cystic Kidney

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8Disease Ontology, 10DISEASES, 60UMLS, 44Novoseek, 33MedlinePlus, 34MeSH, 39NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

cystic kidney 8 10 60
cystic kidney disease 8 44
renal cyst 8 44
congenital cystic kidney disease 60
cystic disease of kidney 8
kidney cysts 33
kidney cyst 8


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Disease Ontology8 DOID:2975
MeSH34 D052177
NCIt39 C3970
ICD1025 Q61

Related Diseases for Cystic Kidney

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17GeneCards, 18GeneDecks
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Diseases in the Renal Dysplasia, Cystic family:

cystic kidney

Diseases related to Cystic Kidney via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis30.9PKD1, UMOD, PKD2
2umod-associated kidney disease30.7UMOD, MCKD2
3polycystic kidney disease30.4PKD1, PKHD1
4kidney cancer30.4HNF1B
5uromodulin-associated kidney disease30.3UMOD, MCKD2
6polycystic kidney disease, autosomal dominant30.1PKD1, PKD2
7familial juvenile hyperuricemic nephropathy30.1UMOD, HNF1B
8polycystic kidney disease, autosomal recessive30.1PKD2, TSC2, PKD1, HNF1B, PKHD1
9polydactyly30.1B9D2
10tuberous sclerosis30.0PKD1, TSC2, PKD1P6, PKHD1
11renal dysplasia29.8HNF1B
12retinal degeneration29.8NPHP1
13hepatitis29.8EDNRA
14situs inversus29.8PKD2, INVS, NPHP1, NPHP3
15end stage renal failure29.8NPHP4
16hyperuricemia29.8UMOD, HNF1B
17gout29.8UMOD, HNF1B
18chronic kidney failure29.8PKD1, INVS, UMOD, NPHP1, HNF1B, TSC2
19cystic fibrosis29.8UMOD, PKD1
20polycystic liver disease29.8PKD1P6, PKD1, PKD2, PKHD1
21joubert syndrome29.8NPHP1
22glomerulocystic kidney disease with hyperuricemia and isosthenuria29.8UMOD, MCKD2
23intracranial aneurysm29.8PKD2, PKD1
24kidney disease11.0
25medullary cystic kidney disease type 110.7
26autosomal dominant disease10.5
27renal cell carcinoma10.5
28peritonitis10.4
29renal cysts and diabetes syndrome10.3
30chromosomal disease10.2
31nephronophthisis 1, juvenile10.2
32autosomal dominant medullary cystic kidney disease with hyperuricemia10.2
33infantile autosomal recessive medullary cystic kidney disease10.2
34juvenile autosomal recessive medullary cystic kidney disease10.2
35late-onset autosomal recessive medullary cystic kidney disease10.2
36nephrocalcinosis10.2
37hepatic fibrosis - renal cysts - intellectual deficit10.2
38joubert syndrome 210.2
39daneman davy mancer syndrome10.2
40meckel syndrome 110.2
41renal hypertension10.1
42hepatic fibrosis renal cysts mental retardation10.1
43multiloculated renal cyst10.1
44pyuria10.1
45urethritis10.1
46hajdu-cheney syndrome10.1
47papillary carcinoma10.1
48childhood multilocular cystic kidney neoplasm10.1
49autosomal recessive disease10.1
50hemorrhagic disease10.1

Graphical network of the top 20 diseases related to Cystic Kidney:



Diseases related to cystic kidney

Clinical Features for Cystic Kidney

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Drugs & Therapeutics for Cystic Kidney

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Anatomical Context for Cystic Kidney

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32MalaCards
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MalaCards organs/tissues related to Cystic Kidney:

32
Kidney, Liver, Testes, Pancreas, Bone marrow, Bone, Lung, Breast

Animal Models for Cystic Kidney or affiliated genes

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36MGI
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Publications for Cystic Kidney

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50PubMed
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Articles related to Cystic Kidney:

(show top 50)    (show all 293)
idTitleAuthorsYear
1
Renal cell carcinoma in patients with acquired cystic disease of the kidney: Assessment using a combination of T2-weighted, diffusion-weighted, and chemical-shift MRI without the use of contrast material. (24123320)
2013
2
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. (24257694)
2013
3
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. (22106379)
2012
4
Acute cystic rupture and hemorrhagic shock after a vigorous massage chair session in a patient with polycystic kidney disease. (21642815)
2011
5
Juvenile nephropathy in a Boxer dog resembling the human nephronophthisis-medullary cystic kidney disease complex. (21836389)
2011
6
The diagnostic value of ultrasound in cystic kidney diseases. (18810502)
2010
7
Cystic kidney diseases and planar cell polarity signaling. (19215242)
2009
8
Clinicopathologic analysis of mixed epithelial and stromal tumor of kidney and adult cystic nephroma]. (19781188)
2009
9
Cystic nephroma and mixed epithelial and stromal tumour of the kidney: opposite ends of the spectrum of the same entity? (18006141)
2008
10
Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease. (18981227)
2008
11
PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney. (17669465)
2007
12
Acquired cystic kidney disease and renal cell cancer after transplantation: time to rethink screening? (17699473)
2007
13
Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney. (17287432)
2007
14
Lithiasis in cystic kidney disease and malformations of the urinary tract. (16416113)
2006
15
Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease. (16771602)
2006
16
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. (15983957)
2005
17
Clinico-pathologic findings in medullary cystic kidney disease type 2. (15844001)
2005
18
Cystic kidney diseases: learning from animal models. (15496558)
2004
19
Sarcomatoid collecting duct carcinoma arising in the hemodialysis-associated acquired cystic kidney: an autopsy report. (12828612)
2003
20
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. (13679497)
2003
21
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. (12421721)
2002
22
Proliferative activity of renal cell carcinoma associated with acquired cystic disease of the kidney: comparison with typical renal cell carcinoma. (11957150)
2002
23
Somatic von Hippel-Lindau disease gene mutation in clear-cell renal carcinomas associated with end-stage renal disease/acquired cystic disease of the kidney. (12378530)
2002
24
Pathogenesis of cystic kidney diseases]. (12647363)
2002
25
New insights: nephronophthisis-medullary cystic kidney disease. (11261687)
2001
26
Medullary cystic kidney disease: past and present. (11688405)
2001
27
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? (11675411)
2001
28
Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1. (11851379)
2001
29
The cystic fibrosis transmembrane regulator (CFTR) in the kidney. (11028104)
2000
30
Acquired cystic kidney disease: rapid progression from small to enlarged kidneys simulating adult polycystic kidney disease. (10809421)
2000
31
Cystic diseases of the kidney: role of adhesion molecules in normal and abnormal tubulogenesis. (10213865)
1999
32
Acquired cystic kidney disease in children undergoing continuous ambulatory peritoneal dialysis. Kyushu Pediatric Nephrology Study Group. (10430969)
1999
33
Cystic kidney diseases. (9263671)
1997
34
The cystic fibrosis transmembrane conductance regulator mediates transepithelial fluid secretion by human autosomal dominant polycystic kidney disease epithelium in vitro. (8807590)
1996
35
Erythropoiesis in dialysis patients with acquired cystic kidney disease. Collaborative Group of Nephrologists of the East of France. (8107946)
1994
36
Partial nephrectomy in a metachronous multilocular cyst of the kidney (cystic nephroma). (8158788)
1994
37
C-fos expression is hypersensitive to serum-stimulation in cultured cystic kidney cells from the C57BL/6J-cpk mouse. (1506416)
1992
38
Cystic lymphangioma of the kidney: a rare cause of multiloculated renal masses. (1999216)
1991
39
Autosomal recessive polycystic kidney disease: characterization of human peritoneal and cystic kidney cells in vitro. (2154094)
1990
40
Renal cell carcinoma and acquired cystic kidney disease after renal transplantation. (2369482)
1990
41
Renal cell carcinoma and acquired cystic kidney disease after renal transplantation. (2883363)
1987
42
Multiple renal oncocytoma and bilateral cystic kidney. (4076258)
1985
43
CT of acquired cystic kidney disease and renal tumors in long-term dialysis patients. (6362372)
1984
44
Real-time sonography of congenital cystic kidney disease. (7112811)
1982
45
Hyperreninemia, lysozymuria, and erythrocytosis in Fanconi syndrome with medullary cystic kidney. (6992516)
1980
46
Animal model of human disease: intrarenal obstructive uropathy with proximal ectasia, cystic kidney disease. (495694)
1979
47
Gray scale ultrasonography in medullary cystic disease of the kidney and congenital hepatic fibrosis with tubular ectasia: new observations. (409167)
1977
48
An unusual case of congenital cystic kidney in a lamb. (5285873)
1970
49
Unilateral congenital cystic kidney in an infant complicated by hydronephrosis. (15391237)
1949
50
UNILATERAL MULTILOCULAR CYSTIC KIDNEY (REPORT OF A CASE IN A YOUNG CHILD). (20321720)
1940

Genetic Variations for Cystic Kidney

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Expression for genes affiliated with Cystic Kidney

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cystic Kidney

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Pathways for genes affiliated with Cystic Kidney

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12EMD Millipore, 37NCBI BioSystems Database
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Pathways related to Cystic Kidney according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3PKD2, UMOD, HNF1B
210.2BCAR1, EDNRA, EDNRB

Compounds for genes affiliated with Cystic Kidney

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Cystic Kidney according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1trp-p-24410.7PKD1, PKD2
2[125i]et-12810.7EDNRA, EDNRB
3pd 1450654410.7EDNRB, EDNRA
4sitaxsentan44 2811.7EDNRB, EDNRA
5pd 1428934410.7EDNRB, EDNRA
6bq6104410.6EDNRB, EDNRA
7bq 302044 2811.6EDNRB, EDNRA
8ambrisentan44 2811.6EDNRB, EDNRA
9irl 162044 2811.6EDNRA, EDNRB
10tezosentan4410.6EDNRA, EDNRB
11Sitaxentan1110.6EDNRA, EDNRB
12fr13931744 2811.6EDNRB, EDNRA
13sarafotoxin4410.6EDNRB, EDNRA
14atrasentan4410.5EDNRB, EDNRA
15darusentan44 2811.5EDNRB, EDNRA
16bq78844 2811.5EDNRB, EDNRA
17bq12344 2811.4EDNRA, EDNRB
18toxin a4410.3EDNRB, EDNRA
19sodium44 2411.3PKD1, PKD2, EDNRA, EDNRB, UMOD
20bosentan44 1111.2EDNRA, EDNRB
21phosphatidylinositol4410.1BCAR1, TSC2, PKD1, EDNRA, EDNRB
22calcium44 49 11 2412.7UMOD, EDNRB, EDNRA, PKHD1, PKD2, PKD1

GO Terms for genes affiliated with Cystic Kidney

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16Gene Ontology
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Cellular components related to Cystic Kidney according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:00213310.4PKD2, PKD1
2primary ciliumGO:07237210.4PKHD1, NEK8, UMOD, NPHP3
3mitotic spindleGO:07268610.4PKD2, PKHD1
4ciliumGO:00592910.3NPHP4, NPHP3, PKD2, PKD1, INVS
5microtubule basal bodyGO:00593210.3PKD2, PKHD1, NPHP4, B9D2
6motile primary ciliumGO:03151210.3PKD2, PKD1
7membraneGO:01602010.1TSC2, INVS, EDNRA, NPHP4, NPHP1, B9D2
8cell-cell junctionGO:00591110.0PKD2, NPHP4, NPHP1

Biological processes related to Cystic Kidney according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1mesonephric tubule developmentGO:07216410.7PKD2, PKD1
2regulation of cAMP metabolic processGO:03081410.7PKD2, NPHP3
3visual behaviorGO:00763210.7NPHP1, NPHP4
4mesonephric duct developmentGO:07217710.7PKD1, PKD2
5metanephric ascending thin limb developmentGO:07221810.7UMOD, PKD2, PKD1
6determination of liver left/right asymmetryGO:07191010.7NPHP3, PKD2
7genitalia developmentGO:04880610.6PKD1, HNF1B
8positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.6PKD2, PKD1
9placenta blood vessel developmentGO:06067410.6PKD1, PKD2
10regulation of epithelial cell proliferationGO:05067810.6EDNRB, EDNRA
11heart developmentGO:00750710.6TSC2, PKD1, PKD2, EDNRA
12detection of mechanical stimulusGO:05098210.6PKD2, PKD1
13cytoplasmic sequestering of transcription factorGO:04299410.5PKD1, PKD2
14kidney developmentGO:00182210.5INVS, PKD1, PKHD1, NPHP3, HNF1B
15cell-cell adhesionGO:01633710.5PKHD1, NPHP4, NPHP1
16vasoconstrictionGO:04231010.5EDNRA, EDNRB
17spinal cord developmentGO:02151010.5PKD2, PKD1
18enteric nervous system developmentGO:04848410.4EDNRA, EDNRB
19embryonic placenta developmentGO:00189210.4PKD1, PKD2
20cell cycle arrestGO:00705010.3TSC2, PKD1, PKD2
21calcium ion transmembrane transportGO:07058810.3PKD2, PKD1
22neural tube developmentGO:02191510.1PKD2, PKD1

Molecular functions related to Cystic Kidney according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endothelin receptor activityGO:00496210.3EDNRA, EDNRB
2protein bindingGO:0055159.2BCAR1, HNF1B, B9D2, NPHP1, NPHP4, NPHP3

Products for genes affiliated with Cystic Kidney

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Sources for Cystic Kidney

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet