PKD
MCID: PLY014
MIFTS: 61

Polycystic Kidney Disease (PKD) malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Polycystic Kidney Disease

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. normal kidney tissue is replaced by fluid-filled sacs that interfere with the 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. however, signs and symptom severity can vary greatly from person to person. treatment is tailored to the individual based upon their signs and symptoms.the two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance:(1) autosomal dominant polycystic kidney disease (adpkd) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. adpkd can be further divided into type 1 and type 2, depending on the underlying genetic cause.(2) autosomal recessive polycystic kidney disease (arpkd) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. some people with arpkd do not develop symptoms until later in childhood or even adulthood. last updated: 12/8/2011

MalaCards: Polycystic Kidney Disease, also known as polycystic kidney diseases, is related to congenital hepatic fibrosis and aneurysm. An important gene associated with Polycystic Kidney Disease is PKD2 (polycystic kidney disease 2 (autosomal dominant)), and among its related pathways is Adenylate cyclase activating neuropeptides. The compounds trp-p-2 and cai2+ have been mentioned in the context of this disorder. Affiliated tissues include the kidney, kidney and liver, and related mouse phenotypes are digestive/alimentary and respiratory system.

Disease Ontology:9 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:22 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:66 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic... more...

Description from OMIM:48 263200,613095,173900

Aliases & Classifications for Polycystic Kidney Disease

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63UMLS, 9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 36MeSH, 48OMIM, 59SNOMED-CT, 41NCIt
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Classifications:

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


Aliases & Descriptions:

polycystic kidney disease 9 66 44 22 11
polycystic kidney diseases 46 63
pkd 44 22
polycystic kidney and hepatic disease 1 9
paroxysmal kinesigenic choreoathetosis 63
congenital biliary ectasias 9
polycystic renal disease 22
polycystic kidneys 44
caroli disease 63


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Disease Ontology9 DOID:898
MeSH36 D016767
SNOMED-CT59 111331000
NCIt41 C84619

Related Diseases for Polycystic Kidney Disease

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18GeneCards, 19GeneDecks
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Diseases in the Polycystic Kidney Disease, Type 2 family:

polycystic kidney disease Polycystic Kidney Disease, Type 1
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 229)
idRelated DiseaseScoreTop Affiliating Genes
1congenital hepatic fibrosis31.2PKHD1
2aneurysm31.2PKD1, PKD2
3polycystic kidney disease, type 231.1PKD2, PKD1
4polycystic kidney disease, autosomal dominant31.1PKD2, PKD1
5polycystic kidney disease, autosomal recessive31.0PKD1, PKD2, PKHD1, IFT88
6intracranial aneurysm30.9PKD2, PKD1
7tuberous sclerosis30.9PKD1, PKHD1
8polycystic liver disease30.9PKD2, PKHD1, PKD1
9cystic kidney30.8PKHD1, PKD1, PKD2
10nephronophthisis30.7PKD1, PKD2
11caroli disease30.6PKHD1, PKD1
12primary hyperoxaluria30.1PKD1, PKD2, PKHD1
13kidney disease11.6
14hepatitis10.8
15hypertension10.7
16polycystic kidney disease, type 110.6
17endotheliitis10.6
18liver disease10.6
19serpentine fibula polycystic kidney syndrome10.5
20peritonitis10.5
21nephrolithiasis10.4
22renal cell carcinoma10.4
23familial paroxysmal kinesigenic dyskinesia10.4
24cystic fibrosis10.4
25aortic aneurysm10.4
26oral-facial-digital syndrome type i10.4
27glomerulonephritis10.4
28nephrotic syndrome10.4
29retinitis10.4
30polycystic kidney disease, type 310.4
31polycystic kidney disease, adult type i10.4
32autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.4
33situs inversus10.3
34orofaciodigital syndrome10.3
35renal agenesis10.3
36marfan syndrome10.3
37adenoma10.3
38diabetes mellitus10.3
39pyelonephritis10.3
40renal hypertension10.3
41tuberculosis10.3
42hypoxia10.3
43insulin resistance10.3
44meckel syndrome10.2
45bronchiectasis10.2
46carotid artery dissection10.2
47abdominal aortic aneurysm10.2
48renal tuberculosis10.2
49infertility10.2
50nephrocalcinosis10.2

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



Diseases related to polycystic kidney disease

Symptoms for Polycystic Kidney Disease

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48OMIM
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Clinical features from OMIM:

263200,613095,173900

Drugs & Therapeutics for Polycystic Kidney Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Anatomical Context for Polycystic Kidney Disease

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Polycystic Kidney Disease:

34
Kidney, Liver, Endothelial, Testes, Heart, Bone, Appendix, Pineal, T cells, Monocytes, Myeloid, Pituitary, Lung, Colon, Spinal cord

FMA organs/tissues related to Polycystic Kidney Disease:

15
The kidney

Animal Models for Polycystic Kidney Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Polycystic Kidney Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9IFT88, PKD1, PKHD1, PKD2, PKD1L1
2MP:00053888.8NEK8, IFT88, PKD1, PKHD1, PKD2, PKD1L1
3MP:00053808.7KIF11, PKD1L1, PKD2, PKD1, IFT88
4MP:00053798.5NEK1, IFT88, PKD1, PKHD1, PKD2
5MP:00053858.5NEK8, IFT88, PKD1, PKHD1, PKD2, PKD1L1
6MP:00053678.4PKD1L1, NEK8, NEK1, IFT88, PKD1, PKHD1
7MP:00053898.3NEK1, PKDREJ, PKD1, PKHD1, PKD1L1, KIF11
8MP:00036317.7HAX1, NEK1, IFT88, PKD1, PKHD1, PKD1L1
9MP:00053787.6HAX1, NEK8, NEK1, IFT88, PKD1, PKHD1
10MP:00107687.6HAX1, NEK8, NEK1, IFT88, PKD1, PKHD1

Publications for Polycystic Kidney Disease

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53PubMed
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Articles related to Polycystic Kidney Disease:

(show top 50)    (show all 1031)
idTitleAuthorsYear
1
Bilateral nephrectomy significantly improves health-related quality of life in a hemodialysis patient with autosomal dominant polycystic kidney disease. (24041611)
2013
2
Changing referral characteristics of patients with autosomal dominant polycystic kidney disease. (23830538)
2013
3
Complete staghorn calculus in polycystic kidney disease: infection is still the cause. (24070202)
2013
4
Multiple liver cyst infection caused by Salmonella ajiobo in autosomal dominant polycystic kidney disease. (23053500)
2013
5
Myeloperoxidase-antineutrophil cytoplasmic antibody-associated crescentic glomerulonephritis in autosomal dominant polycystic kidney disease. (23617397)
2013
6
Neutrophil-to-lymphocyte ratio, insulin resistance, and endothelial dysfunction in patients with autosomal dominant polycystic kidney disease. (23580803)
2013
7
Polycystic kidney disease and chronic renal failure in tuberous sclerosis. (24092520)
2013
8
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
9
What is normal in an abnormality? Central venous cannulation in a patient with Situs inversus totalis with dextrocardia and polyCystic kidney disease. (24133338)
2013
10
Renal Relevant Radiology: Radiologic Imaging in Autosomal Dominant Polycystic Kidney Disease. (24370765)
2013
11
Increasing extracellular matrix collagen level and MMP activity induces cyst development in polycystic kidney disease. (22963260)
2012
12
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation. (21744088)
2012
13
A case of severe aortic valve regurgitation caused by an ascending aortic aneurysm in a young patient with autosomal dominant polycystic kidney disease and normal renal function. (22396705)
2012
14
Aquaretic treatment in polycystic kidney disease. (23121376)
2012
15
Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities. (23114901)
2012
16
Polycystic kidney disease presenting with hypertension and hypokalemia. (21962616)
2012
17
Insulin resistance and coronary flow velocity reserve in patients with autosomal dominant polycystic kidney disease. (21118411)
2012
18
The spectrum of polycystic kidney disease in children. (21896375)
2011
19
Incidental finding of autosomal dominant polycystic kidney disease with liver involvement on Tc-99m sestamibi scintigraphy. (21637047)
2011
20
WNT/I^-catenin signaling in polycystic kidney disease. (21720305)
2011
21
Autosomal dominant polycystic kidney disease (ADPKD) associated with steroid-sensitive nephrotic syndrome in childhood. (21116827)
2011
22
Two non-invasive GFR-estimation methods in rat models of polycystic kidney disease: 3.0 Tesla dynamic contrast-enhanced MRI and optical imaging. (21444361)
2011
23
Macrophages promote cyst growth in polycystic kidney disease. (21921140)
2011
24
Disseminated hydatid disease mistaken for polycystic kidney disease by ultrasound. (21116276)
2010
25
Images in clinical medicine. Autosomal dominant polycystic kidney disease. (20592299)
2010
26
Spontaneous coronary artery dissection in a woman with polycystic kidney disease. (18992981)
2009
27
Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease. (19273592)
2009
28
2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery. (19423684)
2009
29
Morphological and functional features of hepatic cyst epithelium in autosomal dominant polycystic kidney disease. (18202196)
2008
30
Heightened epithelial Na+ channel-mediated Na+ absorption in a murine polycystic kidney disease model epithelium lacking apical monocilia. (16207792)
2006
31
Research on autosomal dominant polycystic kidney disease in China. (17134592)
2006
32
From gene to disease; PKHD1 and recessive polycystic kidney disease]. (15771341)
2005
33
Molecular basis of autosomal dominant polycystic kidney disease. (15900113)
2005
34
Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. (16437702)
2005
35
The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1. (12500225)
2003
36
Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease. (12118859)
2002
37
Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. (11854326)
2002
38
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. (12079288)
2002
39
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. (11857740)
2002
40
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (11571556)
2001
41
Autosomal dominant polycystic kidney disease: modification of disease progression. (11705510)
2001
42
Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. (11273887)
2001
43
cAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells. (10864573)
2000
44
A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. (10517638)
1999
45
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. (10023895)
1999
46
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. (10198164)
1999
47
Polycystic kidney disease in SBM transgenic mice: role of c-myc in disease induction and progression. (9422539)
1998
48
The polycystic kidney disease 1 gene product mediates protein kinase C alpha-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1. (9497315)
1998
49
The etiology, pathogenesis, and treatment of autosomal dominant polycystic kidney disease: recent advances. (8957030)
1996
50
Reversible renal failure associated with angiotensin-converting enzyme inhibitors in polycystic kidney disease. (1929024)
1991

Variations for Polycystic Kidney Disease

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Expression for genes affiliated with Polycystic Kidney Disease

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2BioGPS, 16Gene 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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51PathCards, 13EMD Millipore
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Pathways related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PKD1L1, PKD1L2

Compounds for genes affiliated with Polycystic Kidney Disease

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46Novoseek, 30IUPHAR, 12DrugBank
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Compounds related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trp-p-24610.1PKD2, PKD1
2cai2+309.4PKD2L1, PKD2
3amiloride46 30 1211.4PKD2L1, PKD2
4gd3+309.3PKD2, PKD2L1
5la3+309.1PKD2L1, PKD2

GO Terms for genes affiliated with Polycystic Kidney Disease

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17Gene Ontology
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Cellular components related to Polycystic Kidney Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:00213310.1PKD2, PKD1
2primary ciliumGO:0723729.9PKHD1, NEK8
3mitotic spindleGO:0726869.7PKD2, PKHD1
4motile primary ciliumGO:0315129.7PKD2, PKD1, IFT88
5ciliary basal bodyGO:0360649.5IFT88, PKHD1, PKD2
6ciliumGO:0059299.3IFT88, PKD1, PKD2, PKD1L1
7ciliary membraneGO:0601709.2PKD2L1, PKD1L1, PKD2
8integral component of membraneGO:0160217.0PKDREJ, PKD1L2, PKD1, PKHD1, PKD1L1, PKD2L1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1metanephric ascending thin limb developmentGO:07221810.3PKD1, PKD2
2mesonephric tubule developmentGO:07216410.3PKD1, PKD2
3mesonephric duct developmentGO:07217710.2PKD2, PKD1
4detection of nodal flowGO:00312710.2PKD1L1, PKD2
5positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.2PKD1, PKD2
6placenta blood vessel developmentGO:06067410.2PKD2, PKD1
7cytoplasmic sequestering of transcription factorGO:04299410.1PKD2, PKD1
8spinal cord developmentGO:02151010.1PKD1, PKD2
9neural tube developmentGO:02191510.0PKD2, PKD1
10embryonic placenta developmentGO:0018929.9PKD2, PKD1
11determination of left/right symmetryGO:0073689.7PKD2, IFT88
12JAK-STAT cascadeGO:0072599.7PKD2, PKD1
13cellular response to acidityGO:0714689.6PKD2L1, PKD1L2
14neuropeptide signaling pathwayGO:0072189.5PKDREJ, PKD1L2, PKD1
15calcium ion transmembrane transportGO:0705889.2PKDREJ, PKD1, PKD2, PKD2L2
16detection of mechanical stimulusGO:0509828.0PKD2L2, PKD2L1, PKD1L1, PKD2, PKD1, PKDREJ

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sour taste receptor activityGO:0330409.4PKD2L1, PKD1L2
2cytoskeletal protein bindingGO:0080929.4PKD2L1, PKD2
3muscle alpha-actinin bindingGO:0513719.3PKD2L1, PKD2
4cation channel activityGO:0052619.2PKD1L2, PKD1, PKD2L1
5calcium channel activityGO:0052628.1PKD2L2, PKD2L1, PKD1L1, PKD1, PKDREJ
6calcium ion bindingGO:0055098.0PKDREJ, PKD1L2, PKD2, PKD2L1, PKD2L2
7protein bindingGO:0055156.9HAX1, GFER, NEK8, NEK1, PKD1, PKHD1

Products for genes affiliated with Polycystic Kidney Disease

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Sources for Polycystic Kidney Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet