ADPKD
MCID: PLY026
MIFTS: 46

Polycystic Kidney Disease, Autosomal Dominant (ADPKD) malady

Nephrological diseases category

Summaries for Polycystic Kidney Disease, Autosomal Dominant

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42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Autosomal dominant polycystic kidney disease (adpkd) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. it is the most common inherited disorder of the kidneys. symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. the most common symptoms are pain in the back and the sides and headaches. other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, brain aneurysms, and diverticulosis. about 90 percent of all cases of polycystic kidney disease (pkd) are inherited in an autosomal dominant fashion.  although there is no cure for adpkd, treatment can ease symptoms and prolong life. last updated: 6/22/2011

MalaCards: Polycystic Kidney Disease, Autosomal Dominant, also known as ADPKD, is related to polycystic kidney disease and aneurysm disease. An important gene associated with Polycystic Kidney Disease, Autosomal Dominant is PKD2 (polycystic kidney disease 2 (autosomal dominant)), and among its related pathways is Calcium channels. The compounds sodium and trp-p-2 have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain.

Wikipedia:63 Autosomal dominant polycystic kidney disease (\"ADPKD\", \"autosomal dominant PKD\" or \"Adult-onset... more...

GeneReviews summary for pkd-ad

Aliases & Classifications for Polycystic Kidney Disease, Autosomal Dominant

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19GeneReviews, 42NIH Rare Diseases, 44Novoseek, 20GeneTests, 22GTR, 60UMLS, 25ICD10
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Classifications:

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


Aliases & Descriptions:

polycystic kidney disease, autosomal dominant 19
adpkd 19 42 44
autosomal dominant polycystic kidney disease 42 20
polycystic kidney disease, adult type 42 22
polycystic kidney, autosomal dominant 60


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ICD1025 Q61.2

Related Diseases for Polycystic Kidney Disease, Autosomal Dominant

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Diseases in the Polycystic Kidney Disease, Autosomal Recessive family:

polycystic kidney disease, autosomal dominant

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

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease31.4PKD1, PKD2
2aneurysm disease31.2PKD2, PKD1
3polycystic liver disease31.1PKD1, PKD2
4intracranial aneurysm31.0PKD2, PKD1
5cystic fibrosis30.8PKD1
6polycystic kidney disease, type 230.3PKD1, PKD2
7polycystic kidney disease, autosomal recessive30.3PKD1, PKD2
8cystic kidney30.3PKD1, PKD2
9chronic kidney failure30.3PKD1, PKD2
10primary hyperoxaluria30.3PKD1, PKD2
11autosomal dominant disease11.0
12hepatitis10.8
13kidney disease10.8
14liver disease10.7
15hepatitis a10.7
16congenital hepatic fibrosis10.7
17nephrolithiasis10.6
18renal cell carcinoma10.6
19kidney hypertrophy10.5
20chromosomal disease10.5
21marfan syndrome10.5
22renal agenesis10.5
23adenoma10.5
24aortic aneurysm10.5
25aortic disease10.5
26diabetes mellitus10.5
27glomerulonephritis10.5
28peritonitis10.5
29pyelonephritis10.5
30autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.5
31papillary carcinoma10.4
32tuberous sclerosis10.4
33papillary renal cell carcinoma10.4
34hypertensive heart disease10.4
35hyperaldosteronism10.4
36polycystic kidney disease, adult type i10.4
37peripheral vascular disease10.2
38coronary artery disease10.2
39crescentic glomerulonephritis10.2
40paralytic ileus10.2
41ureteral obstruction10.2
42membranous glomerulonephritis10.2
43acute pancreatitis10.2
44pyuria10.2
45sigmoid disease10.2
46xanthogranulomatous pyelonephritis10.2
47sotos syndrome10.2
48junctional epidermolysis bullosa10.2
49central nervous system lymphoma10.2
50subdural empyema10.2

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



Diseases related to polycystic kidney disease, autosomal dominant

Clinical Features for Polycystic Kidney Disease, Autosomal Dominant

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Drugs & Therapeutics for Polycystic Kidney Disease, Autosomal Dominant

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Polycystic Kidney Disease, Autosomal Dominant

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20GeneTests, 22GTR
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Genetic tests related to Polycystic Kidney Disease, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Polycystic Kidney Disease, Autosomal Dominant20 PKD2
2 Polycystic Kidney Disease, Adult Type22

Anatomical Context for Polycystic Kidney Disease, Autosomal Dominant

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32MalaCards
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MalaCards organs/tissues related to Polycystic Kidney Disease, Autosomal Dominant:

32
Kidney, Liver, Brain, Heart, Pancreas, Endothelial, Testes, Spinal cord, Monocytes, T cells, Pituitary

Animal Models for Polycystic Kidney Disease, Autosomal Dominant or affiliated genes

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Publications for Polycystic Kidney Disease, Autosomal Dominant

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Articles related to Polycystic Kidney Disease, Autosomal Dominant:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Retinal Detachment in Autosomal Dominant Polycystic Kidney Disease. (24388671)
2014
2
Changing referral characteristics of patients with autosomal dominant polycystic kidney disease. (23830538)
2013
3
Multiple liver cyst infection caused by Salmonella ajiobo in autosomal dominant polycystic kidney disease. (23053500)
2013
4
AA-amyloidosis in autosomal dominant polycystic kidney disease caused by chronic cyst infections lasting for 30 years. (23545677)
2013
5
Rationale and Design of the DIPAK 1 Study: A Randomized Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in Autosomal Dominant Polycystic Kidney Disease. (24342522)
2013
6
Untypical coexistence of autosomal dominant polycystic kidney disease and adrenal incidentaloma. (23648815)
2013
7
Successful conservative treatment of bilateral emphysematous pyelonephritis in autosomal dominant polycystic kidney disease. (23814427)
2013
8
Tolvaptan in autosomal dominant polycystic kidney disease. (23534571)
2013
9
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations. (23266634)
2013
10
Acute cyst rupture, hemorrhage and septic shock after a shockwave lithotripsy in a patient with autosomal dominant polycystic kidney disease. (23456211)
2013
11
Long-term treatment with Mammalian target of rapamycin inhibitor does not benefit patients with autosomal dominant polycystic kidney disease: a meta-analysis. (24022660)
2013
12
Novel cilia-dependent pathway activates rapid cyst growth inA autosomal dominant polycystic kidney disease. (24111686)
2013
13
Incidental renal cell carcinoma presenting in a renal transplant recipient with autosomal dominant polycystic kidney disease: a case report. (22691223)
2012
14
Moxonidine-induced priapism in an autosomal-dominant polycystic kidney disease dialysis patient. (22569452)
2012
15
Management of nephrolithiasis in autosomal dominant polycystic kidney disease - A single center experience. (22346098)
2012
16
Tolvaptan in autosomal dominant polycystic kidney disease: three years' experience. (21903984)
2011
17
Hyperbaric oxygen therapy in a patient with autosomal dominant polycystic kidney disease with a perinephritic abscess. (20886361)
2011
18
Sudden death of a young male with previously undiagnosed autosomal dominant polycystic kidney disease (ADPKD). (20971027)
2011
19
Practical genetics for autosomal dominant polycystic kidney disease. (21071968)
2011
20
Fluid transport and cystogenesis in autosomal dominant polycystic kidney disease. (21255645)
2011
21
Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease. (20950398)
2011
22
Successful peritoneal dialysis after renal transcatheter arterial embolization in autosomal dominant polycystic kidney disease. (22014637)
2011
23
Psychonephrology: psychological aspects in autosomal dominant polycystic kidney disease. (22130288)
2011
24
Kidney transplant for autosomal dominant polycystic kidney disease: the superiority of concurrent bilateral nephrectomy. (21677416)
2011
25
Autosomal dominant polycystic kidney disease with diffuse proliferative glomerulonephritis - an unusual association: a case report and review of the literature. (20429898)
2010
26
Failure to ubiquitinate c-Met leads to hyperactivation of mTOR signaling in a mouse model of autosomal dominant polycystic kidney disease. (20852388)
2010
27
Kidney and liver cysts in autosomal dominant polycystic kidney disease. (20846938)
2010
28
Autosomal dominant polycystic kidney disease and mTOR inhibitors: the narrow road between hope and disappointment. (20798121)
2010
29
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. (18837007)
2009
30
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. (19346236)
2009
31
Modern treatment of autosomal dominant polycystic kidney disease]. (19145940)
2008
32
Autosomal dominant polycystic kidney disease: from genes to cilium]. (18350498)
2008
33
Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease. (19248702)
2008
34
Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases]. (18067079)
2007
35
Diagnostic approach in autosomal dominant polycystic kidney disease. (17699332)
2006
36
A Chinese autosomal dominant polycystic kidney disease family probably related to PKD2 gene]. (16215947)
2005
37
Secretion of cytokines and growth factors into autosomal dominant polycystic kidney disease liver cyst fluid. (15382115)
2004
38
Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2]. (15300626)
2004
39
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. (14993477)
2004
40
Urinary excretion of monocyte chemoattractant protein-1 in autosomal dominant polycystic kidney disease. (14514736)
2003
41
Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy. (12212826)
2002
42
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes. (11058904)
2000
43
Influence of the ACE gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease. (10430974)
1999
44
Molecular basis of autosomal dominant polycystic kidney disease. (10435671)
1999
45
Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease. (9856513)
1998
46
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. (9402976)
1997
47
Expression of aquaporins-1 and -2 during nephrogenesis and in autosomal dominant polycystic kidney disease. (8760258)
1996
48
Atrial septal aneurysm in a patient with autosomal dominant polycystic kidney disease. (8048426)
1994
49
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. (1614046)
1992
50
Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1). (1583643)
1992

Genetic Variations for Polycystic Kidney Disease, Autosomal Dominant

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Expression for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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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, Autosomal Dominant

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Pathways for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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Pathways related to Polycystic Kidney Disease, Autosomal Dominant according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1PKD1, PKD2

Compounds for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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Compounds related to Polycystic Kidney Disease, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium44 2410.1PKD1, PKD2
2trp-p-2449.0PKD1, PKD2
3polyacrylamide448.8PKD1, PKD2

GO Terms for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.1PKD1, PKD2
2polycystin complexGO:0021339.0PKD1, PKD2
3motile primary ciliumGO:0315128.8PKD1, PKD2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1mesonephric tubule developmentGO:0721649.4PKD1, PKD2
2metanephric ascending thin limb developmentGO:0722189.4PKD1, PKD2
3mesonephric duct developmentGO:0721779.4PKD1, PKD2
4positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:0316599.4PKD1, PKD2
5placenta blood vessel developmentGO:0606749.4PKD2, PKD1
6detection of mechanical stimulusGO:0509829.4PKD1, PKD2
7cytoplasmic sequestering of transcription factorGO:0429949.4PKD1, PKD2
8spinal cord developmentGO:0215109.3PKD1, PKD2
9calcium ion transmembrane transportGO:0705889.3PKD2, PKD1
10neural tube developmentGO:0219159.3PKD2, PKD1
11embryonic placenta developmentGO:0018929.2PKD1, PKD2
12JAK-STAT cascadeGO:0072599.2PKD1, PKD2
13liver developmentGO:0018899.1PKD2, PKD1
14positive regulation of transcription from RNA polymerase II promoterGO:0459449.1PKD1, PKD2
15cell cycle arrestGO:0070509.0PKD1, PKD2
16heart developmentGO:0075078.8PKD1, PKD2

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.1PKD1, PKD2

Products for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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Sources for Polycystic Kidney Disease, Autosomal Dominant

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3CDC
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26ICD10 via Orphanet
27ICD9CM
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