MCID: CYS016
MIFTS: 51

Cystic Kidney malady

Genetic diseases (common), Nephrological diseases categories
Download this MalaCard

Summaries for Cystic Kidney

About this section


Fully expand this MalaCard
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 based summary: Cystic Kidney, also known as cystic kidney disease, is related to nephronophthisis and familial juvenile hyperuricemic nephropathy. 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

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 33MedlinePlus, 62UMLS, 34MeSH, 39NCIt, 25ICD10
See all sources

Cystic Kidney, Aliases & Descriptions:

Name: Cystic Kidney 8 10 62
Cystic Kidney Disease 8 44
Renal Cyst 8 44
 
Congenital Cystic Kidney Disease 62
Kidney Cysts 33
Kidney Cyst 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:2975
MeSH34 D052177
NCIt39 C3970
ICD1025 Q61

Related Diseases for Cystic Kidney

About this section

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 141)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis31.1NPHP1, NPHP3
2familial juvenile hyperuricemic nephropathy30.7NPHP1
3polycystic kidney disease30.3PKD2, PKD1
4polycystic kidney disease, autosomal recessive29.9PKD1, PKD2
5polycystic liver disease29.8PKD2, PKD1
6aneurysm29.8PKD2, PKD1
7intracranial aneurysm29.8PKD1, PKD2
8polycystic kidney disease, autosomal dominant29.7PKD1, PKD2
9situs inversus29.7NPHP3, PKD2, NPHP1
10chronic kidney failure29.4UMOD, NPHP1, PKD2, PKD1
11kidney disease11.1
12medullary cystic kidney disease type 110.8
13renal cell carcinoma10.6
14umod-associated kidney disease10.5
15peritonitis10.4
16familial juvenile hyperuricaemic nephropathy10.4
17maturity-onset diabetes of the young, type 510.4
18autosomal dominant medullary cystic kidney disease with hyperuricemia10.3
19juvenile nephronophthisis10.3
20nephrocalcinosis10.2
21hepatic fibrosis - renal cysts - intellectual disability10.2
22multiloculated renal cyst10.2
23childhood multilocular cystic kidney neoplasm10.2
24daneman davy mancer syndrome10.2
25nephronophthisis 1, juvenile10.2
26meckel syndrome 110.2
27hepatic fibrosis renal cysts mental retardation10.2
28hajdu-cheney syndrome10.1
29urethritis10.1
30polydactyly10.1
31nephroblastoma10.1
32urethral obstruction10.1
33oral-facial-digital syndrome type i10.1
34joubert syndrome with renal anomalies10.1
35medullary sponge kidney10.1
36senior-loken syndrome 110.1
37renal dysplasia10.1
38bilateral renal dysplasia10.1
39infantile nephronophthisis10.1
40late-onset nephronophthisis10.1
41cystadenoma10.1
42nevoid basal cell carcinoma syndrome10.1
43tuberous sclerosis10.1
44renal tuberculosis10.1
45adenoma10.1
46polycythemia10.1
47tuberculosis10.1
48posterior urethral valves10.1
49hypoxia10.1
50primary hyperoxaluria10.0PKD1, NPHP1

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



Diseases related to cystic kidney

Symptoms for Cystic Kidney

About this section

Drugs & Therapeutics for Cystic Kidney

About this section

Drug clinical trials:

Search ClinicalTrials for Cystic Kidney

Search NIH Clinical Center for Cystic Kidney

Genetic Tests for Cystic Kidney

About this section

Anatomical Context for Cystic Kidney

About this section

MalaCards organs/tissues related to Cystic Kidney:

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

Animal Models for Cystic Kidney or affiliated genes

About this section

MGI Mouse Phenotypes related to Cystic Kidney:

36
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

About this section

Articles related to Cystic Kidney:

(show top 50)    (show all 212)
idTitleAuthorsYear
1
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. (24509297)
2014
2
Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use. (23796907)
2013
3
Survivin-Induced Abnormal Ploidy Contributes to Cystic Kidney and Aneurysm Formation. (24235270)
2013
4
Contrast-enhanced ultrasound assessment of complex cystic lesions in renal transplant recipients with acquired cystic kidney disease: preliminary experience. (22974874)
2012
5
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
6
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. (21199495)
2011
7
Bilateral multiple cystic kidney disease and renal cortical abscess in a Boerboel. (22135926)
2011
8
Lights on for aminopeptidases in cystic kidney disease. (20179346)
2010
9
Evaluation of acquired cystic kidney disease in patients on hemodialysis with ultrasonography. (20622311)
2010
10
Long-term online hemodiafiltration does not reduce the frequency and severity of acquired cystic kidney disease in hemodialysis patients. (19839850)
2009
11
Segmental cystic kidney tumours in children. (19968582)
2009
12
Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways. (18539122)
2008
13
Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. (17825558)
2007
14
TSC2, a key player in tumor suppression and cystic kidney disease. (17373211)
2006
15
Histogenesis of the acquired cystic kidney disease: an immunohistochemical study. (16932028)
2006
16
Bilateral laparoscopic radical nephrectomy for renal tumors in patients with acquired cystic kidney disease. (16366867)
2005
17
V2 receptor antagonists in cystic kidney diseases: an exciting step towards a practical treatment. (15728776)
2005
18
New developments in the field of cystic kidney diseases. (16101475)
2005
19
Cystic kidney diseases: learning from animal models. (15496558)
2004
20
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. (12421721)
2002
21
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. (12471200)
2002
22
Acquired cystic kidney disease following long-term peritoneal dialysis for congenital nephrotic syndrome. (12002366)
2002
23
Molecular cloning of a gene for inversion of embryo turning (inv) with cystic kidney. (12386294)
2002
24
New insights: nephronophthisis-medullary cystic kidney disease. (11261687)
2001
25
Medullary cystic kidney disease: past and present. (11688405)
2001
26
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? (11675411)
2001
27
Perinatal differential diagnosis of cystic kidney disease and urinary tract obstruction: anatomic pathologic, ultrasonographic and genetic findings. (10725570)
2000
28
Cystic kidney diseases. (9263671)
1997
29
Plasma erythropoietin level and iron reserves in haemodialysis patients with and without acquired cystic kidney disease. (9203047)
1997
30
Transcatheter embolization for retroperitoneal hemorrhage secondary to acquired cystic kidney disease. (9007814)
1996
31
Cystic kidney disease. (8772936)
1996
32
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
33
Acquired cystic kidney disease. (8580756)
1995
34
Renal neoplasm in acquired cystic kidney disease. (7611240)
1995
35
Nephroblastoma and end-stage renal failure with bilateral cystic kidneys. (7794714)
1995
36
Erythropoiesis in dialysis patients with acquired cystic kidney disease. Collaborative Group of Nephrologists of the East of France. (8107946)
1994
37
Renal cancer complicating acquired cystic kidney disease. (7894009)
1994
38
Acquired cystic kidney disease in renal insufficiency: a multicentre study. Group of Nephrologists of the East of France. (8258045)
1993
39
Urothelial neoplasia complicating acquired cystic kidney disease. (1336142)
1992
40
Acquired cystic kidney disease before and after renal transplantation. (1625094)
1992
41
Renal cell carcinoma of the native kidney in a female renal allograft patient without acquired cystic kidney disease. (1630555)
1992
42
Acquired cystic kidney disease. (1921151)
1991
43
Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease. (1781072)
1991
44
Autosomal recessive polycystic kidney disease: characterization of human peritoneal and cystic kidney cells in vitro. (2154094)
1990
45
Phthalate esters, cystic kidney disease in animals and possible effects on human health: a review. (2271232)
1990
46
The role of ischemia in acquired cystic kidney disease. (2294733)
1990
47
Renal neoplasia and acquired cystic kidney disease in patients receiving long-term dialysis. (3521533)
1986
48
Comparative effects of germfree and ambient environments on the development of cystic kidney disease in CFWwd mice. (6699465)
1984
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

About this section

Expression for genes affiliated with Cystic Kidney

About this section
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

About this section

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

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Cystic Kidney according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1slex449.8UMOD, MUC1
2sialic acid449.8UMOD, MUC1
3galactose449.7UMOD, MUC1
4sulfate44 2410.5UMOD, MUC1
5trp-p-2449.2PKD2, PKD1
6sodium44 249.8PKD1, PKD2, UMOD

GO Terms for genes affiliated with Cystic Kidney

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Cystic Kidney

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet