PKD
MCID: PLY014
MIFTS: 67

Polycystic Kidney Disease (PKD) malady

Liver diseases, Fetal diseases, Nephrological diseases categories

Summaries for Polycystic Kidney Disease

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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, kidney and liver, 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:63 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic... more...

Description from OMIM:46 613095,173900,263200,600643

Aliases & Classifications for Polycystic Kidney Disease

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 22GTR, 48Orphanet, 46OMIM, 60UMLS, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
caroli disease:
Age of onset: Variable


Aliases & Descriptions:

polycystic kidney disease 8 63 42 21 10
caroli disease 8 42 22 48 46 60
polycystic kidney diseases 44 60
pkd 42 21
congenital polycystic dilatation of intrahepatic bile ducts 42
cystic dilatation of the intrahepatic biliary tree 42
polycystic kidney and hepatic disease 1 8
paroxysmal kinesigenic choreoathetosis 60
congenital biliary ectasias 8
polycystic renal disease 21
caroli disease isolated 42
polycystic kidneys 42
carolis disease 44


External Ids:

Disease Ontology8 DOID:898
MeSH34 D016767
NCIt39 C84619
SNOMED-CT56 111331000
MESH via Orphanet35 C531647, D016767
ICD10 via Orphanet26 Q44.6
SNOMED-CT via Orphanet57 111331000
UMLS via Orphanet61 C0162510, C1833541

Related Diseases for Polycystic Kidney Disease

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Sources:
17GeneCards, 18GeneDecks
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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 239)
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
5cystic kidney31.0PKD1, PKD2, PKHD1
6polycystic kidney disease, type 230.7PKD1, PKD2
7nephronophthisis30.6NEK8
8primary hyperoxaluria30.1PKD1, PKD2, PKHD1
9kidney disease11.6
10autosomal dominant disease11.4
11autosomal recessive disease11.0
12autosomal genetic disease10.8
13hepatitis10.8
14aneurysm disease10.8
15hypertension10.7
16liver disease10.7
17chromosomal disease10.7
18hepatitis a10.6
19familial paroxysmal kinesigenic dyskinesia10.6
20tuberous sclerosis10.6
21intracranial aneurysm10.6
22aortic disease10.6
23peritonitis10.5
24renal hypertension10.5
25vascular disease10.5
26hypoparathyroidism10.5
27infantile convulsions and paroxysmal choreoathetosis, familial10.5
28dystonia 1010.5
29episodic kinesigenic dyskinesia 110.5
30nephrolithiasis10.4
31aortic aneurysm10.4
32renal cell carcinoma10.4
33polycystic kidney disease, type 110.4
34cystic fibrosis10.4
35hemorrhagic disease10.4
36oral-facial-digital syndrome type i10.4
37serpentine fibula polycystic kidney syndrome10.4
38coronary artery disease10.4
39kidney hypertrophy10.4
40adult syndrome10.4
41glomerulonephritis10.4
42nephrotic syndrome10.4
43retinal disease10.4
44retinitis10.4
45polycystic kidney disease, type 310.4
46polycystic kidney disease, adult type i10.4
47autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.4
48myelitis10.3
49becker muscular dystrophy10.3
50muscular dystrophy10.3

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



Diseases related to polycystic kidney disease

Clinical Features for Polycystic Kidney Disease

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Sources:
46OMIM
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Clinical features from OMIM:

613095,173900,263200,600643

Clinical synopsis from OMIM:

600643

Drugs & Therapeutics for Polycystic Kidney Disease

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

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22GTR
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Genetic tests related to Polycystic Kidney Disease:

id Genetic test Affiliating Genes
1 Caroli Disease22

Anatomical Context for Polycystic Kidney Disease

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Polycystic Kidney Disease:

32
Kidney, Liver, Endothelial, Testes, Heart, Bone, Pituitary, Colon, Appendix, T cells, Monocytes, Myeloid, Lung, Spinal cord, Pineal

FMA organs/tissues related to Polycystic Kidney Disease:

14
The kidney

Animal Models for Polycystic Kidney Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Polycystic Kidney Disease:

36
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

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Sources:
50PubMed
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Articles related to Polycystic Kidney Disease:

(show top 50)    (show all 1056)
idTitleAuthorsYear
1
An unusual association of autosomal polycystic kidney disease and multiple myeloma. (24419640)
2014
2
Renal expression of FGF23 and peripheral resistance to elevated FGF23 in rodent models of polycystic kidney disease. (24402093)
2014
3
Serum uric acid, kidney volume and progression in autosomal-dominant polycystic kidney disease. (23222419)
2013
4
Progression of polycystic kidney disease in a kidney transplant. (23446259)
2013
5
Tolvaptan in autosomal dominant polycystic kidney disease. (23534570)
2013
6
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes. (24114580)
2013
7
Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy. (23524344)
2013
8
Insulin resistance and coronary flow velocity reserve in patients with autosomal dominant polycystic kidney disease. (21118411)
2012
9
Urinary N-acetyl-I^-D glucosaminidase as a surrogate marker for renal function in autosomal dominant polycystic kidney disease: 1 year prospective cohort study. (22935351)
2012
10
Incidental renal cell carcinoma presenting in a renal transplant recipient with autosomal dominant polycystic kidney disease: a case report. (22691223)
2012
11
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. (22367170)
2012
12
Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation. (21041232)
2011
13
Acute cystic rupture and hemorrhagic shock after a vigorous massage chair session in a patient with polycystic kidney disease. (21642815)
2011
14
mTOR inhibitors and autosomal dominant polycystic kidney disease. (21247326)
2011
15
Identification of the primary tumour with the help of diffusion-weighted MRI in a patient with autosomal dominant polycystic kidney disease and metastatic renal cell carcinoma. (21697410)
2011
16
Molecular diagnosis of autosomal dominant polycystic kidney disease. (21270911)
2011
17
Use of N-butyl-2-cyanoacrylate for transcatheter arterial embolization of renal arteries in patients with polycystic kidney disease. (22024120)
2011
18
Early cyst growth is associated with the increased nuclear expression of cyclin D1/Rb protein in an autosomal-recessive polycystic kidney disease rat model. (20924203)
2011
19
Practical genetics for autosomal dominant polycystic kidney disease. (21071968)
2011
20
CD14 : a candidate biomarker for the prognosis of polycystic kidney disease. (20805816)
2010
21
Kidney and liver cysts in autosomal dominant polycystic kidney disease. (20846938)
2010
22
Of mice and men: therapeutic mTOR inhibition in polycystic kidney disease. (20133481)
2010
23
Abnormalities in focal adhesion complex formation, regulation, and function in human autosomal recessive polycystic kidney disease epithelial cells. (19923420)
2010
24
Transplantation and autosomal recessive polycystic kidney disease. (20617628)
2010
25
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. (19346236)
2009
26
Aliskiren corrects recurrent hyperreninemia and hyperaldosteronism in autosomal dominant polycystic kidney disease. (19761733)
2009
27
Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease. (18826972)
2009
28
Polycystic kidney disease with coronary aneurysm and acute coronary syndrome. (19915302)
2009
29
Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD). (19176689)
2009
30
Situs inversus with autosomal recessive polycystic kidney disease. (18723918)
2008
31
Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. (18286309)
2008
32
Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases]. (18067079)
2007
33
Molecular pathogenesis of autosomal dominant polycystic kidney disease. (16515728)
2006
34
Design and baseline characteristics of participants in the study of antihypertensive therapy in children and adolescents with autosomal dominant polycystic kidney disease (ADPKD). (15837441)
2005
35
Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease. (15509540)
2004
36
The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1. (12500225)
2003
37
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. (12874454)
2003
38
Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. (11854326)
2002
39
Endothelial nitric oxide synthase affects the progression of autosomal dominant polycystic kidney disease. (12077489)
2002
40
c-myc-induced apoptosis in polycystic kidney disease is independent of FasL/Fas interaction. (11956070)
2002
41
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. (12140187)
2002
42
Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease. (11142763)
2000
43
Elevation of serum levels of metalloproteinase-1, tissue inhibitor of metalloproteinase-1 and type IV collagen, and plasma levels of metalloproteinase-9 in polycystic kidney disease. (10644865)
2000
44
The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease. (9889186)
1999
45
Duodenal obstruction in polycystic kidney disease. Case report and review of the literature. (9653836)
1998
46
Autosomal dominant polycystic kidney disease decreases anion exchanger activity. (9176168)
1997
47
The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1. (8666666)
1996
48
Coexpression of extracellular matrix glycoproteins undulin and tenascin in human autosomal dominant polycystic kidney disease. (7692313)
1993
49
Positional cloning approach to the dominant polycystic kidney disease gene, PKD1. (8468920)
1993
50
Effects of angiotensin converting enzyme inhibition in adult polycystic kidney disease. (1317477)
1992

Genetic Variations for Polycystic Kidney Disease

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Expression for genes affiliated with Polycystic Kidney Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Polycystic Kidney Disease

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44Novoseek, 28IUPHAR
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Compounds related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trp-p-24410.6PKD1, PKD2
2la3+2810.6PKD2, PKD2L1
3cai2+2810.5PKD2, PKD2L1
4gd3+2810.3PKD2, PKD2L1

GO Terms for genes affiliated with Polycystic Kidney Disease

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16Gene Ontology
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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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  • Antibodies
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Sources for Polycystic Kidney Disease

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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