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
Neutrophil-to-lymphocyte ratio, insulin resistance, and endothelial dysfunction in patients with autosomal dominant polycystic kidney disease. (23580803)
2013
2
Commentary on: Tolvaptan in patients with autosomal-dominant polycystic kidney disease. (23375912)
2013
3
mTOR inhibition in autosomal-dominant polycystic kidney disease (ADPKD): the question remains open. (23222536)
2013
4
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. (23300259)
2013
5
Segmentation of individual renal cysts from MR images in patients with autosomal dominant polycystic kidney disease. (23520042)
2013
6
Apelin and copeptin: two opposite biomarkers associated with kidney function decline and cyst growth in autosomal dominant polycystic kidney disease. (23973863)
2013
7
Cardiovascular complications in autosomal dominant polycystic kidney disease. (23971638)
2013
8
Endothelial dysfunction and angiogenesis in autosomal dominant polycystic kidney disease. (23971642)
2013
9
The natural history of autosomal dominant polycystic kidney disease: 30-year experience from a single centre. (23587574)
2013
10
Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study. (23326375)
2013
11
Rapamycin for treatment of type I autosomal dominant polycystic kidney disease (RAPYD-study): a randomized, controlled study. (22785114)
2012
12
G-protein signaling modulator 1 deficiency accelerates cystic disease in an orthologous mouse model of autosomal dominant polycystic kidney disease. (23236168)
2012
13
Autosomal dominant polycystic kidney disease with contralateral renal agenesis. (23169372)
2012
14
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
15
Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease. (23355918)
2012
16
Renal disease progression in autosomal dominant polycystic kidney disease. (22526483)
2012
17
Incidental finding of autosomal dominant polycystic kidney disease with liver involvement on Tc-99m sestamibi scintigraphy. (21637047)
2011
18
Molecular diagnosis of autosomal dominant polycystic kidney disease. (21270911)
2011
19
Potential deleterious effects of vasopressin in chronic kidney disease and particularly autosomal dominant polycystic kidney disease. (21691126)
2011
20
Native nephrectomy for autosomal dominant polycystic kidney disease: before or after kidney transplantation? (21166760)
2011
21
Epigenetics and autosomal dominant polycystic kidney disease. (20970496)
2011
22
Re: nephrolithiasis in autosomal dominant polycystic kidney disease. (22098966)
2011
23
Post transplant urinary tract infection in Autosomal dominant polycystic kidney disease a perpetual diagnostic dilema - 18-fluorodeoxyglucose - Positron emission computerized tomography - A valuable tool. (22174521)
2011
24
Interpretation of renal volume in autosomal dominant polycystic kidney disease and relevant clinical implications. (21189426)
2011
25
Impact of mammalian target of rapamycin inhibition on autosomal-dominant polycystic kidney disease. (21095452)
2010
26
Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series. (19515475)
2009
27
Concurrent renal cell carcinoma and central nervous system lymphoma in a patient with autosomal dominant polycystic kidney disease. (19797927)
2009
28
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease. (19686598)
2009
29
Therapeutic interventions for autosomal dominant polycystic kidney disease. (18372677)
2008
30
Hypertension in autosomal dominant polycystic kidney disease: is renin acquitted as a culprit? (16685200)
2006
31
The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease. (16526315)
2006
32
Matrix metalloproteinases synthesized in autosomal dominant polycystic kidney disease play a role in development of a concurrent abdominal aortic aneurysm. (15694696)
2005
33
The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice. (15673153)
2004
34
Progression of autosomic dominant polycystic kidney disease. Influence of endothelial NO synthase (ecNOS) and renin angiotensin system gene polymorphisms]. (15628301)
2004
35
Bile duct cysts in a patient with autosomal dominant polycystic kidney disease. (14722571)
2004
36
Expression and cellular localisation of renal endothelin-1 and endothelin receptor subtypes in autosomal-dominant polycystic kidney disease. (12629276)
2003
37
Endothelial nitric oxide synthase affects the progression of autosomal dominant polycystic kidney disease. (12077489)
2002
38
The effect of caffeine on renal epithelial cells from patients with autosomal dominant polycystic kidney disease. (12397042)
2002
39
Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy. (12380903)
2002
40
Cardiac involvement in autosomal-dominant polycystic kidney disease: a hypertensive heart disease. (11597036)
2001
41
Association of the ACE gene polymorphism with the progression of autosomal dominant polycystic kidney disease. (10983692)
2000
42
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. (10417277)
1999
43
Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. (10362797)
1999
44
Autosomal dominant polycystic kidney disease: clinical and genetic aspects. (9442442)
1997
45
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication. (9211343)
1997
46
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. (9158217)
1996
47
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. (8978603)
1996
48
Autosomal dominant polycystic kidney disease: new information for genetic counselling. (1605247)
1992
49
The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease. (2215576)
1990
50
The diagnosis and prognosis of autosomal dominant polycystic kidney disease. (2215575)
1990

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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3CDC
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27ICD9CM
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