MCID: CYS016
MIFTS: 51

Cystic Kidney malady

Genetic diseases (common), Nephrological diseases categories
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Summaries for Cystic Kidney

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34MedlinePlus, 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 polycystic kidney disease. An important gene associated with Cystic Kidney is UMOD (uromodulin), and among its related pathways are Selected targets of HNF1 and Calcium channels. The compounds slex and sialic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and testes, and related mouse phenotypes are skeleton and digestive/alimentary.

Aliases & Classifications for Cystic Kidney

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Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 34MedlinePlus, 62UMLS, 35MeSH, 40NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

cystic kidney 8 10 62
cystic kidney disease 8 45
renal cyst 8 45
congenital cystic kidney disease 62
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

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17GeneCards, 18GeneDecks
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Diseases in the Cystic Kidney family:

Renal Dysplasia, Cystic

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis31.0NPHP1, NPHP3
2polycystic kidney disease30.4PKD2, PKD1
3familial juvenile hyperuricemic nephropathy30.3NPHP1
4polycystic kidney disease, autosomal recessive29.9PKD2, PKD1
5polycystic liver disease29.9PKD1, PKD2
6polycystic kidney disease, autosomal dominant29.9PKD2, PKD1
7situs inversus29.9NPHP3, NPHP1, PKD2
8intracranial aneurysm29.8PKD2, PKD1
9aneurysm29.8PKD2, PKD1
10chronic kidney failure29.8PKD1, PKD2, UMOD, NPHP1
11kidney disease11.1
12medullary cystic kidney disease type 110.7
13renal cell carcinoma10.5
14umod-associated kidney disease10.5
15peritonitis10.4
16maturity-onset diabetes of the young, type 510.4
17familial juvenile hyperuricaemic nephropathy10.3
18nephronophthisis 1, juvenile10.3
19autosomal dominant medullary cystic kidney disease with hyperuricemia10.3
20infantile autosomal recessive medullary cystic kidney disease10.3
21juvenile autosomal recessive medullary cystic kidney disease10.3
22late-onset autosomal recessive medullary cystic kidney disease10.3
23nephrocalcinosis10.2
24hepatic fibrosis - renal cysts - intellectual disability10.2
25multiloculated renal cyst10.2
26daneman davy mancer syndrome10.2
27joubert syndrome 210.2
28meckel syndrome 110.2
29hepatic fibrosis renal cysts mental retardation10.2
30hajdu-cheney syndrome10.1
31urethritis10.1
32polydactyly10.1
33childhood multilocular cystic kidney neoplasm10.1
34nephroblastoma10.1
35urethral obstruction10.1
36oral-facial-digital syndrome type i10.1
37joubert syndrome with renal anomalies10.1
38medullary sponge kidney10.1
39senior-loken syndrome 110.1
40renal dysplasia10.1
41bilateral renal dysplasia10.1
42pyuria10.1
43cystadenoma10.1
44renal tuberculosis10.1
45tuberous sclerosis10.1
46adenoma10.1
47tuberculosis10.1
48posterior urethral valves10.1
49hypoxia10.1
50posterior urethral valve10.1

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



Diseases related to cystic kidney

Symptoms for Cystic Kidney

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Drugs & Therapeutics for Cystic Kidney

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cystic Kidney

Search NIH Clinical Center for Cystic Kidney

Genetic Tests for Cystic Kidney

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Anatomical Context for Cystic Kidney

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33MalaCards
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MalaCards organs/tissues related to Cystic Kidney:

33
Kidney, Liver, Testes, Bone marrow, Bone, Pancreas

Animal Models for Cystic Kidney or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cystic Kidney:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.8NPHP3, UMOD, PKD1, FAT4
2MP:00053818.5MUC1, FAT4, PKD1, PKD2
3MP:00053798.3MUC1, PKD1, PKD2, NPHP1
4MP:00053858.3NPHP3, PKD2, PKD1, FAT4
5MP:00053808.2NPHP3, PKD2, PKD1, FAT4
6MP:00053787.9FAT4, PKD1, PKD2, UMOD, NPHP3
7MP:00053767.7MUC1, PKD1, PKD2, UMOD, NPHP3
8MP:00053677.6NPHP3, NPHP1, UMOD, PKD2, PKD1, FAT4

Publications for Cystic Kidney

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Sources:
52PubMed
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Articles related to Cystic Kidney:

(show top 50)    (show all 206)
idTitleAuthorsYear
1
Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use. (23796907)
2013
2
Survivin-Induced Abnormal Ploidy Contributes to Cystic Kidney and Aneurysm Formation. (24235270)
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
Bilateral multiple cystic kidney disease and renal cortical abscess in a Boerboel. (22135926)
2011
7
Lights on for aminopeptidases in cystic kidney disease. (20179346)
2010
8
Evaluation of acquired cystic kidney disease in patients on hemodialysis with ultrasonography. (20622311)
2010
9
Long-term online hemodiafiltration does not reduce the frequency and severity of acquired cystic kidney disease in hemodialysis patients. (19839850)
2009
10
Segmental cystic kidney tumours in children. (19968582)
2009
11
Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways. (18539122)
2008
12
Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. (17825558)
2007
13
TSC2, a key player in tumor suppression and cystic kidney disease. (17373211)
2006
14
Histogenesis of the acquired cystic kidney disease: an immunohistochemical study. (16932028)
2006
15
Bilateral laparoscopic radical nephrectomy for renal tumors in patients with acquired cystic kidney disease. (16366867)
2005
16
V2 receptor antagonists in cystic kidney diseases: an exciting step towards a practical treatment. (15728776)
2005
17
New developments in the field of cystic kidney diseases. (16101475)
2005
18
Cystic kidney diseases: learning from animal models. (15496558)
2004
19
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. (12421721)
2002
20
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. (12471200)
2002
21
Acquired cystic kidney disease following long-term peritoneal dialysis for congenital nephrotic syndrome. (12002366)
2002
22
Molecular cloning of a gene for inversion of embryo turning (inv) with cystic kidney. (12386294)
2002
23
New insights: nephronophthisis-medullary cystic kidney disease. (11261687)
2001
24
Medullary cystic kidney disease: past and present. (11688405)
2001
25
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? (11675411)
2001
26
Perinatal differential diagnosis of cystic kidney disease and urinary tract obstruction: anatomic pathologic, ultrasonographic and genetic findings. (10725570)
2000
27
Cystic kidney diseases. (9263671)
1997
28
Plasma erythropoietin level and iron reserves in haemodialysis patients with and without acquired cystic kidney disease. (9203047)
1997
29
Transcatheter embolization for retroperitoneal hemorrhage secondary to acquired cystic kidney disease. (9007814)
1996
30
Cystic kidney disease. (8772936)
1996
31
Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. (8954016)
1996
32
Acquired cystic kidney disease. (8580756)
1995
33
Renal neoplasm in acquired cystic kidney disease. (7611240)
1995
34
Nephroblastoma and end-stage renal failure with bilateral cystic kidneys. (7794714)
1995
35
Erythropoiesis in dialysis patients with acquired cystic kidney disease. Collaborative Group of Nephrologists of the East of France. (8107946)
1994
36
Renal cancer complicating acquired cystic kidney disease. (7894009)
1994
37
Acquired cystic kidney disease in renal insufficiency: a multicentre study. Group of Nephrologists of the East of France. (8258045)
1993
38
Urothelial neoplasia complicating acquired cystic kidney disease. (1336142)
1992
39
Acquired cystic kidney disease before and after renal transplantation. (1625094)
1992
40
Renal cell carcinoma of the native kidney in a female renal allograft patient without acquired cystic kidney disease. (1630555)
1992
41
Acquired cystic kidney disease. (1921151)
1991
42
Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease. (1781072)
1991
43
Autosomal recessive polycystic kidney disease: characterization of human peritoneal and cystic kidney cells in vitro. (2154094)
1990
44
Phthalate esters, cystic kidney disease in animals and possible effects on human health: a review. (2271232)
1990
45
The role of ischemia in acquired cystic kidney disease. (2294733)
1990
46
Renal neoplasia and acquired cystic kidney disease in patients receiving long-term dialysis. (3521533)
1986
47
Comparative effects of germfree and ambient environments on the development of cystic kidney disease in CFWwd mice. (6699465)
1984
48
UNILATERAL MULTILOCULAR CYSTIC KIDNEY (REPORT OF A CASE IN A YOUNG CHILD). (20321720)
1940
49
A Case of Congenital Cystic Kidney, Associated with Several Other Abnormalities. (17104076)
1925
50
CONGENITAL CYSTIC KIDNEY WITH LOCAL DIFFUSE PERITONITIS: SURGICAL DESTRUCTION OF PART OF KIDNEY: RECOVERY. (20768182)
1916

Variations for Cystic Kidney

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Expression for genes affiliated with Cystic Kidney

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 12EMD Millipore
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Pathways related to Cystic Kidney according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3UMOD, PKD2
29.1PKD2, PKD1

Compounds for genes affiliated with Cystic Kidney

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45Novoseek, 24HMDB
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Compounds related to Cystic Kidney according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1slex459.8UMOD, MUC1
2sialic acid459.8UMOD, MUC1
3galactose459.7UMOD, MUC1
4sulfate45 2410.5UMOD, MUC1
5trp-p-2459.2PKD2, PKD1
6sodium45 249.8PKD1, PKD2, UMOD

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
1primary ciliumGO:0723729.7NPHP3, UMOD
2basolateral plasma membraneGO:0163239.6UMOD, PKD1
3ciliary membraneGO:0601709.3PKD2, UMOD
4polycystin complexGO:0021339.3PKD1, PKD2
5motile primary ciliumGO:0315129.2PKD2, PKD1
6cell-cell junctionGO:0059118.8NPHP1, PKD2
7extracellular vesicular exosomeGO:0700628.3UMOD, PKD2, PKD1, MUC1
8ciliumGO:0059298.2NPHP3, PKD2, PKD1, ANKS6

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1excretionGO:0075889.8UMOD, NPHP1
2regulation of cAMP metabolic processGO:0308149.5PKD2, NPHP3
3determination of liver left/right asymmetryGO:0719109.5NPHP3, PKD2
4kidney developmentGO:0018229.5NPHP3, PKD1
5mesonephric tubule developmentGO:0721649.5PKD2, PKD1
6mesonephric duct developmentGO:0721779.5PKD1, PKD2
7positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:0316599.4PKD1, PKD2
8placenta blood vessel developmentGO:0606749.4PKD2, PKD1
9detection of mechanical stimulusGO:0509829.4PKD2, PKD1
10cytoplasmic sequestering of transcription factorGO:0429949.4PKD1, PKD2
11spinal cord developmentGO:0215109.4PKD2, PKD1
12neural tube developmentGO:0219159.4PKD1, PKD2
13determination of left/right symmetryGO:0073689.4NPHP3, PKD2
14embryonic placenta developmentGO:0018929.4PKD2, PKD1
15JAK-STAT cascadeGO:0072599.4PKD2, PKD1
16heart loopingGO:0019479.3NPHP3, PKD2
17homophilic cell adhesionGO:0071569.2PKD1, FAT4
18calcium ion transmembrane transportGO:0705889.2PKD1, PKD2
19liver developmentGO:0018899.2PKD2, PKD1
20metanephric ascending thin limb developmentGO:0722189.1UMOD, PKD2, PKD1
21heart developmentGO:0075079.1PKD2, PKD1
22cell cycle arrestGO:0070509.0PKD1, PKD2

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.0PKD2, PKD1
2calcium ion bindingGO:0055098.9UMOD, PKD2, FAT4
3protein bindingGO:0055157.1MUC1, FAT4, PKD1, PKD2, NPHP1, NPHP3

Products for genes affiliated with Cystic Kidney

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cystic Kidney

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet