MCID: CYS016
MIFTS: 50

Cystic Kidney malady

Nephrological category

Summaries for Cystic Kidney

Sources:
34MedlinePlus, 64Wikipedia, 33MalaCards
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MedlinePlus:34 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. Related mouse phenotypes are liver/biliary system and embryogenesis.

Wikipedia:64 Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions. With... more...

Aliases & Classifications for Cystic Kidney

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 45Novoseek, 34MedlinePlus, 35MeSH, 40NCIt, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

cystic kidney 8 10 61
cystic kidney disease 8 45
renal cyst 8 45
congenital cystic kidney disease 61
cystic disease of kidney 8
kidney cysts 34
kidney cyst 8


External Ids:

Disease Ontology8 DOID:2975
MeSH35 D052177
NCIt40 C3970
ICD1025 Q61

Related Diseases for Cystic Kidney

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis30.9UMOD, PKD2, PKD1
2umod-associated kidney disease30.7UMOD, MCKD2
3polycystic kidney disease30.5PKD1, PKHD1
4uromodulin-associated kidney disease30.3UMOD, MCKD2
5familial juvenile hyperuricemic nephropathy30.1UMOD, HNF1B
6polydactyly30.1B9D2
7tuberous sclerosis30.0TSC2, PKD1P6, PKD1, PKHD1
8renal dysplasia29.9HNF1B
9polycystic kidney disease, autosomal dominant29.9PKD1, PKD2
10situs inversus29.9INVS, PKD2, NPHP3, NPHP1
11hyperuricemia29.9UMOD, HNF1B
12polycystic kidney disease, autosomal recessive29.9HNF1B, PKHD1, PKD2, PKD1, TSC2
13gout29.9HNF1B, UMOD
14cystic fibrosis29.9PKD1, UMOD
15polycystic liver disease29.9PKHD1, PKD2, PKD1, PKD1P6
16joubert syndrome29.8NPHP1
17glomerulocystic kidney disease with hyperuricemia and isosthenuria29.8UMOD, MCKD2
18intracranial aneurysm29.8PKD2, PKD1
19medullary cystic kidney disease type 110.6
20autosomal dominant disease10.6
21kid syndrome10.5
22renal cysts and diabetes syndrome10.4
23nephrocalcinosis10.2
24hepatic fibrosis - renal cysts - intellectual deficit10.2
25multiloculated renal cyst10.2
26daneman davy mancer syndrome10.2
27juvenile autosomal recessive medullary cystic kidney disease10.2
28hepatic fibrosis renal cysts mental retardation10.1
29pyuria10.1
30hajdu-cheney syndrome10.1
31papillary carcinoma10.1
32childhood multilocular cystic kidney neoplasm10.1
33autosomal recessive disease10.1
34urethral obstruction10.1
35nephronophthisis 1, juvenile10.1
36autosomal dominant medullary cystic kidney disease with hyperuricemia10.1
37infantile autosomal recessive medullary cystic kidney disease10.1
38late-onset autosomal recessive medullary cystic kidney disease10.1
39cystadenoma10.1
40renal tuberculosis10.1
41tuberculosis10.1
42posterior urethral valves10.1
43posterior valve urethra10.1
44hypoxia10.1
45posterior urethral valve10.1
46renal-hepatic-pancreatic dysplasia10.0NPHP3
47retinal degeneration10.0NPHP1
48hepatitis10.0EDNRA
49nephronophthisis 410.0NPHP4
50asphyxiating thoracic dystrophy10.0INVS

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



Diseases related to cystic kidney

Clinical Features for Cystic Kidney

Drugs & Therapeutics for Cystic Kidney

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Animal Models for Cystic Kidney or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cystic Kidney

Sources:
51PubMed
See all sources

Articles related to Cystic Kidney:

(show top 50)    (show all 299)
idTitleAuthorsYear
1
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. (24257694)
2013
2
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. (23396133)
2013
3
Contrast-enhanced ultrasound assessment of complex cystic lesions in renal transplant recipients with acquired cystic kidney disease: preliminary experience. (22974874)
2012
4
Renal-cell carcinomas in end-stage kidneys: a clinicopathological study with emphasis on clear-cell papillary renal-cell carcinoma and acquired cystic kidney disease-associated carcinoma. (21791489)
2012
5
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. (21199495)
2011
6
So-called 'adenosarcoma' of the kidney a novel adult renal tumor with a cystic appearance. (21501298)
2011
7
The diagnostic value of ultrasound in cystic kidney diseases. (18810502)
2010
8
A case of inflammatory myofibroblastic tumor of the kidney with cystic change. (19470689)
2009
9
Deficiency of polycystic kidney disease-1 gene (PKD1) expression increases A(3) adenosine receptors in human renal cells: implications for cAMP-dependent signalling and proliferation of PKD1-mutated cystic cells. (19285554)
2009
10
Clinicopathologic analysis of mixed epithelial and stromal tumor of kidney and adult cystic nephroma]. (19781188)
2009
11
Cystic nephroma and mixed epithelial and stromal tumour of the kidney: opposite ends of the spectrum of the same entity? (18006141)
2008
12
Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease. (18981227)
2008
13
Acquired cystic kidney disease and renal cell cancer after transplantation: time to rethink screening? (17699473)
2007
14
TSC2, a key player in tumor suppression and cystic kidney disease. (17373211)
2006
15
Multilocular cystic renal cell carcinoma : a report of 45 cases of a kidney tumor of low malignant potential. (16393684)
2006
16
Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease. (16771602)
2006
17
Cystic renal cell carcinoma arising from multilocular cystic nephroma of the same kidney. (16650296)
2006
18
Mixed epithelial and stromal tumor of the kidney and cystic nephroma share overlapping features: reappraisal of 15 lesions. (16390243)
2006
19
V2 receptor antagonists in cystic kidney diseases: an exciting step towards a practical treatment. (15728776)
2005
20
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
21
Clinico-pathologic findings in medullary cystic kidney disease type 2. (15844001)
2005
22
Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. (16932376)
2005
23
Medullary cystic kidney disease type 2. (15168406)
2004
24
Sarcomatoid collecting duct carcinoma arising in the hemodialysis-associated acquired cystic kidney: an autopsy report. (12828612)
2003
25
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. (12839032)
2003
26
Acquired cystic kidney disease following long-term peritoneal dialysis for congenital nephrotic syndrome. (12002366)
2002
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
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. (11576336)
2001
30
The cystic fibrosis transmembrane regulator (CFTR) in the kidney. (11028104)
2000
31
Acquired cystic kidney disease: rapid progression from small to enlarged kidneys simulating adult polycystic kidney disease. (10809421)
2000
32
Cystic diseases of the kidney: role of adhesion molecules in normal and abnormal tubulogenesis. (10213865)
1999
33
Cystic embryonal sarcoma of kidney: a case report. (9635536)
1998
34
Image analysis of proliferating cell nuclear antigen expression and immunohistochemical profiles in renal cell carcinoma associated with acquired cystic kidney disease: comparison with classic renal cell carcinoma. (9578084)
1998
35
A young adult with so-called infantile cystic kidney disease. (8671801)
1996
36
Sarcomatoid renal cell carcinoma arising in hemodialysis-associated acquired cystic kidney disease presenting with disseminated bone marrow infiltration. (7942814)
1994
37
Urothelial neoplasia complicating acquired cystic kidney disease. (1336142)
1992
38
C-fos expression is hypersensitive to serum-stimulation in cultured cystic kidney cells from the C57BL/6J-cpk mouse. (1506416)
1992
39
Phthalate esters, cystic kidney disease in animals and possible effects on human health: a review. (2271232)
1990
40
Multilocular cyst (multilocular cystic nephroma) of the kidney: a report of 2 cases with an unusual mode of presentation. (2545928)
1989
41
Acquired cystic kidney disease: occurrence in patients on chronic peritoneal dialysis. (3341377)
1988
42
Multiple renal oncocytoma and bilateral cystic kidney. (4076258)
1985
43
Hyperreninemia, lysozymuria, and erythrocytosis in Fanconi syndrome with medullary cystic kidney. (6992516)
1980
44
Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings. (7009503)
1980
45
Animal model of human disease: intrarenal obstructive uropathy with proximal ectasia, cystic kidney disease. (495694)
1979
46
Gray scale ultrasonography in medullary cystic disease of the kidney and congenital hepatic fibrosis with tubular ectasia: new observations. (409167)
1977
47
Cystic disease of renal pyramids (medullary sponge kidney). (5784596)
1969
48
CYSTIC DISEASE OF THE RANAL PYRAMIDS (MEDULLARY SPONGE KIDNEY). (14191944)
1964
49
Papillary carcinoma in a poly-cystic kidney. (14788458)
1950
50
Unilateral congenital cystic kidney in an infant complicated by hydronephrosis. (15391237)
1949

Genetic Variations for Cystic Kidney

Expression for genes affiliated with Cystic Kidney

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cystic Kidney

Search GEO for disease gene expression data for Cystic Kidney.

Pathways for genes affiliated with Cystic Kidney

Sources:
12EMD Millipore, 38NCBI 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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Cystic Kidney according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1trp-p-24510.7PKD1, PKD2
2[125i]et-12910.7EDNRA, EDNRB
3pd 1450654510.7EDNRB, EDNRA
4sitaxsentan45 2911.7EDNRB, EDNRA
5pd 1428934510.7EDNRB, EDNRA
6bq6104510.6EDNRB, EDNRA
7bq 302045 2911.6EDNRB, EDNRA
8ambrisentan45 2911.6EDNRB, EDNRA
9irl 162045 2911.6EDNRA, EDNRB
10tezosentan4510.6EDNRA, EDNRB
11Sitaxentan1110.6EDNRA, EDNRB
12fr13931745 2911.6EDNRB, EDNRA
13sarafotoxin4510.6EDNRB, EDNRA
14atrasentan4510.5EDNRB, EDNRA
15darusentan45 2911.5EDNRB, EDNRA
16bq78845 2911.5EDNRB, EDNRA
17bq12345 2911.4EDNRA, EDNRB
18toxin a4510.3EDNRB, EDNRA
19sodium45 2411.3PKD1, PKD2, EDNRA, EDNRB, UMOD
20bosentan45 1111.2EDNRA, EDNRB
21phosphatidylinositol4510.1BCAR1, TSC2, PKD1, EDNRA, EDNRB
22calcium45 50 11 2412.7UMOD, EDNRB, EDNRA, PKHD1, PKD2, PKD1

GO Terms for genes affiliated with Cystic Kidney

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet