PKD
MCID: PLY014
MIFTS: 62

Polycystic Kidney Disease (PKD) malady

Liver, Fetal, Nephrological categories

Summaries for Polycystic Kidney Disease

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Caroli disease is a rare disorder characterized by abnormal widening of the large intrahepatic bile ducts. it may present with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. age of onset is variable and mainly females are affected. the more common variant of this disease, caroli syndrome, is characterized by dilations of the large bile duct in association with congenital hepatic fibrosis. patients with caroli syndrome may present with signs and symptoms of portal hypertension, bacterial cholangitis, hepatomegaly, splenomegaly, esophageal varices, and gastrointestinal hemorrhage. caroli syndrome may be found in association with autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, medullary sponge kidney, and medullary cystic disease. caroli disease may be sporadic or autosomal dominant, whereas caroli syndrome is generally transmitted in an autosomal recessive manner. last updated: 5/19/2011

MalaCards: Polycystic Kidney Disease, also known as caroli disease, is related to polycystic kidney disease, autosomal dominant and polycystic kidney disease, autosomal recessive. An important gene associated with Polycystic Kidney Disease is PKD2 (polycystic kidney disease 2 (autosomal dominant)). The compounds trp-p-2 and la3+ have been mentioned in the context of this disorder. Affiliated tissues include the kidney, bone marrow and spinal cord, and related mouse phenotypes are growth/size and renal/urinary system.

Disease Ontology:8 An autosomal dominant disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium.

Genetics Home Reference:21 Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.

Wikipedia:64 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic... more...

Description from OMIM:47 613095,173900,263200,600643

Aliases & Classifications for Polycystic Kidney Disease

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 22GTR, 49Orphanet, 47OMIM, 61UMLS, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Liver, Nephrological


Characteristics (Orphanet epidemiological data):

49
caroli disease:
Age of onset: Variable


Aliases & Descriptions:

polycystic kidney disease 8 64 43 21 10
caroli disease 8 43 22 49 47 61
polycystic kidney diseases 45 61
pkd 43 21
congenital polycystic dilatation of intrahepatic bile ducts 43
cystic dilatation of the intrahepatic biliary tree 43
polycystic kidney and hepatic disease 1 8
paroxysmal kinesigenic choreoathetosis 61
congenital biliary ectasias 8
polycystic renal disease 21
caroli disease isolated 43
polycystic kidneys 43
carolis disease 45


External Ids:

Disease Ontology8 DOID:898
MeSH35 D016767
NCIt40 C84619
SNOMED-CT57 111331000
MESH via Orphanet36 C531647, D016767
ICD10 via Orphanet26 Q44.6
SNOMED-CT via Orphanet58 111331000
UMLS via Orphanet62 C0162510, C1833541

Related Diseases for Polycystic Kidney Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Polycystic Kidney Disease family:

polycystic kidney disease, type 1 polycystic kidney disease, type 2
polycystic kidney disease, type 3 polycystic kidney disease, adult type i

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

(show top 50)    (show all 228)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease, autosomal dominant32.1PKD1, PKD2
2polycystic kidney disease, autosomal recessive31.6IFT88, PKHD1, PKD2, PKD1
3polycystic liver disease31.1PKHD1, PKD2, PKD1
4congenital hepatic fibrosis31.1PKHD1
5polycystic kidney disease, type 230.8PKD1, PKD2
6nephronophthisis30.6NEK8
7primary hyperoxaluria30.1PKD1, PKD2, PKHD1
8autosomal dominant disease11.4
9paroxysmal choreoathetosis11.1
10autosomal recessive disease11.1
11autosomal genetic disease10.8
12aneurysm disease10.8
13kid syndrome10.7
14tuberous sclerosis10.6
15intracranial aneurysm10.6
16aortic disease10.6
17familial paroxysmal kinesigenic dyskinesia10.6
18vascular disease10.5
19polycystic kidney disease, type 110.5
20hypoparathyroidism10.5
21dystonia 1010.5
22episodic kinesigenic dyskinesia 110.5
23nephrolithiasis10.5
24aortic aneurysm10.5
25cystic fibrosis10.4
26n syndrome10.4
27lip disease10.4
28coronary artery disease,10.4
29kidney hypertrophy10.4
30adult syndrome10.4
31oral-facial-digital syndrome type i10.4
32polycystic kidney disease, type 310.4
33polycystic kidney disease, adult type i10.4
34autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.4
35myelitis10.3
36becker muscular dystrophy10.3
37familial paroxysmal nonkinesigenic dyskinesia10.3
38convulsions, benign familial infantile, 110.3
39infantile convulsions and paroxysmal choreoathetosis, familial10.3
40pyruvate kinase deficiency10.3
41marfan syndrome10.3
42renal agenesis10.3
43dissecting aortic aneurysm10.3
44situs inversus10.3
45orofaciodigital syndrome10.3
46adenoma10.3
47tuberculosis10.3
48hypoxia10.3
49insulin resistance10.3
50crescentic glomerulonephritis10.2

Graphical network of the top 20 diseases related to Polycystic Kidney Disease:



Diseases related to polycystic kidney disease

Clinical Features for Polycystic Kidney Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613095,173900,263200,600643

Clinical synopsis from OMIM:

600643

Drugs & Therapeutics for Polycystic Kidney Disease

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

Approved drugs:

Search CenterWatch for Polycystic Kidney Disease

Drug clinical trials:

Search ClinicalTrials for Polycystic Kidney Disease

Search NIH Clinical Center for Polycystic Kidney Disease

Search CenterWatch for Polycystic Kidney Disease

Genetic Tests for Polycystic Kidney Disease

Sources:
22GTR
See all sources

Genetic tests related to Polycystic Kidney Disease:

id Genetic test Affiliating Genes
1 Caroli Disease22

Anatomical Context for Polycystic Kidney Disease

Sources:
14FMA, 33MalaCards
See all sources

MalaCards organs/tissues related to Polycystic Kidney Disease:

33
Bone marrow, Spinal cord, Heart, Small intestine, Colon, Kidney, Liver, Lung, Myeloid, Monocytes, T cells, B cells, Endothelial, Fetal liver, Fetal lung, Appendix, Pineal, Pituitary

FMA organs/tissues related to Polycystic Kidney Disease:

14
The kidney

Animal Models for Polycystic Kidney Disease or affiliated genes

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

MGI Mouse Phenotypes related to Polycystic Kidney Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537811.1HAX1, NEK1, NEK8, PKD1L1, PKHD1, PKD2
2MP:000536710.9PKD1, IFT88, NEK1, NEK8, PKD1L1, PKHD1
3MP:000538810.6IFT88, NEK8, PKD1L1, PKHD1, PKD2, PKD1

Publications for Polycystic Kidney Disease

Sources:
51PubMed
See all sources

Articles related to Polycystic Kidney Disease:

(show top 50)    (show all 1072)
idTitleAuthorsYear
1
Bilateral papillary renal cell carcinoma and angiomyolipoma in the patients with autosomal dominant polycystic kidney disease: case report of two cases and literature review. (24375046)
2013
2
Role of extracellular ATP and P2 receptor signaling in regulating renal cyst growth and interstitial inflammation in polycystic kidney disease. (23966953)
2013
3
Pain determinants of pain in autosomal dominant polycystic kidney disease. (24100745)
2013
4
Cardiovascular complications in autosomal dominant polycystic kidney disease. (23971638)
2013
5
Atypical presentation of perforated sigmoid diverticulitis in a kidney transplant recipient with autosomal dominant polycystic kidney disease. (23901392)
2013
6
Cost-effectiveness of tolvaptan in autosomal dominant polycystic kidney disease. (24042366)
2013
7
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes. (24114580)
2013
8
Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy. (23524344)
2013
9
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. (22863349)
2012
10
Efficacy and safety of mTOR inhibitor therapy in patients with early-stage autosomal dominant polycystic kidney disease: a meta-analysis of randomized controlled trials. (22902868)
2012
11
Soluble klotho and autosomal dominant polycystic kidney disease. (22193235)
2012
12
New onset diabetes after kidney transplantation in autosomal dominant polycystic kidney disease: a retrospective cohort study. (21854501)
2012
13
Disseminated kidney tuberculosis complicating autosomal dominant polycystic kidney disease: a case report. (22377257)
2012
14
Macrophages promote cyst growth in polycystic kidney disease. (21921140)
2011
15
Deceased donor kidney transplantation in autosomal dominant polycystic kidney disease: a single-center experience. (21912018)
2011
16
Fibrosis and progression of autosomal dominant polycystic kidney disease (ADPKD). (21745567)
2011
17
Polycystic kidney disease and therapeutic approaches. (21699747)
2011
18
Peritoneal dialysis for patients with polycystic kidney disease in Spain. (21856497)
2011
19
Pericardial cyst: a novel extrarenal manifestation of autosomal dominant polycystic kidney disease. (22097234)
2011
20
The Raf kinase inhibitor PLX5568 slows cyst proliferation in rat polycystic kidney disease but promotes renal and hepatic fibrosis. (21804086)
2011
21
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. (19914852)
2010
22
Impact of mammalian target of rapamycin inhibition on autosomal-dominant polycystic kidney disease. (21095452)
2010
23
Clinical effects of calcium channel blockers and renin-angiotensin-aldosterone system inhibitors on changes in the estimated glomerular filtration rate in patients with polycystic kidney disease. (20700620)
2010
24
Regulation of ciliary trafficking of polycystin-2 and the pathogenesis of autosomal dominant polycystic kidney disease. (20197605)
2010
25
Glucose metabolism parameters during an oral glucose tolerance test in patients with autosomal dominant polycystic kidney disease. (20961181)
2010
26
Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains. (19759016)
2009
27
Polycystic kidney disease with coronary aneurysm and acute coronary syndrome. (19915302)
2009
28
Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD). (19176689)
2009
29
Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. (18434273)
2008
30
Modern treatment of autosomal dominant polycystic kidney disease]. (19145940)
2008
31
Too much of a good thing: does Nek8 link polycystic kidney disease and nephronophthisis? (18272836)
2008
32
Renal tuberculosis in adult polycystic kidney disease: report of 2 cases and review of the literature. (17478782)
2007
33
p21 is decreased in polycystic kidney disease and leads to increased epithelial cell cycle progression: roscovitine augments p21 levels. (17714589)
2007
34
Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). (17182135)
2007
35
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. (17574468)
2007
36
A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats. (16943309)
2006
37
Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease. (16399078)
2006
38
Polycystins: what polycystic kidney disease tells us about sperm. (14991728)
2004
39
The gene expression profile of cyst epithelial cells in autosomal dominant polycystic kidney disease patients. (15479626)
2004
40
Modifier effect of ENOS in autosomal dominant polycystic kidney disease. (11823442)
2002
41
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (11571556)
2001
42
Cardiac involvement in autosomal-dominant polycystic kidney disease: a hypertensive heart disease. (11597036)
2001
43
A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. (10517638)
1999
44
Choledochal cyst associated with polycystic kidney disease: report of a case. (10371064)
1999
45
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. (10364515)
1999
46
Polycystic kidney disease in tuberous sclerosis complex: case report. (10065200)
1998
47
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). (9326320)
1997
48
Soluble ELAM-1 is elevated with the progression of IgA nephropathy but not with that of polycystic kidney disease. (8730465)
1996
49
Intracranial cysts in autosomal dominant polycystic kidney disease. (7490613)
1995
50
Kidney polycystic disease in adult congenital hepatic fibrosis. (637433)
1978

Genetic Variations for Polycystic Kidney Disease

Expression for genes affiliated with Polycystic Kidney Disease

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

Search GEO for disease gene expression data for Polycystic Kidney Disease.

Pathways for genes affiliated with Polycystic Kidney Disease

Compounds for genes affiliated with Polycystic Kidney Disease

Sources:
45Novoseek, 29IUPHAR
See all sources

Compounds related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trp-p-24510.6PKD1, PKD2
2la3+2910.6PKD2, PKD2L1
3cai2+2910.5PKD2, PKD2L1
4gd3+2910.3PKD2, PKD2L1

GO Terms for genes affiliated with Polycystic Kidney Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:00592910.8PKD1, PKD2, PKD1L1, IFT88
2motile primary ciliumGO:03151210.8PKD1, PKD2, IFT88
3polycystin complexGO:00213310.6PKD2, PKD1
4primary ciliumGO:07237210.6PKHD1, NEK8
5microtubule basal bodyGO:00593210.6PKD2, PKHD1, IFT88
6mitotic spindleGO:07268610.3PKD2, PKHD1

Biological processes related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1detection of mechanical stimulusGO:05098211.2PKD2L2, PKDREJ, PKD1, PKD2, PKD2L1, PKD1L1
2calcium ion transmembrane transportGO:07058811.2PKD1L1, PKD2L1, PKD2, PKD1, PKDREJ, PKD2L2
3neuropeptide signaling pathwayGO:00721811.1PKD1L3, PKD1L2, PKD1, PKDREJ
4detection of chemical stimulus involved in sensory perception of sour tasteGO:00158110.9PKD2L1, PKD1L3
5detection of nodal flowGO:00312710.9PKD2, PKD1L1
6metanephric ascending thin limb developmentGO:07221810.9PKD2, PKD1
7mesonephric tubule developmentGO:07216410.9PKD2, PKD1
8mesonephric duct developmentGO:07217710.9PKD1, PKD2
9cellular response to acidityGO:07146810.8PKD2L1, PKD1L3
10positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.8PKD2, PKD1
11placenta blood vessel developmentGO:06067410.8PKD1, PKD2
12cytoplasmic sequestering of transcription factorGO:04299410.8PKD1, PKD2
13sodium ion transmembrane transportGO:03572510.7PKD2L1, PKD2
14spinal cord developmentGO:02151010.7PKD1, PKD2
15JAK-STAT cascadeGO:00725910.6PKD1, PKD2
16cation transportGO:00681210.6PKD2L1, PKD1L3
17neural tube developmentGO:02191510.5PKD2, PKD1
18embryonic placenta developmentGO:00189210.3PKD1, PKD2

Molecular functions related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:00526211.0PKD2L2, PKDREJ, PKD1, PKD2L1, PKD1L1
2cation channel activityGO:00526110.8PKD1L3, PKD2L1, PKD1
3carbohydrate bindingGO:03024610.7PKD1, PKD1L2, PKD1L3
4sour taste receptor activityGO:03304010.6PKD2L1, PKD1L3
5calcium ion bindingGO:00550910.5PKD2L2, PKDREJ, PKD2, PKD2L1, PKD1L2
6cation transmembrane transporter activityGO:00832410.5PKD1L3, PKD2L1

Products for genes affiliated with Polycystic Kidney Disease

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Sources for Polycystic Kidney Disease

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