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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50PubMed
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Articles related to Polycystic Kidney Disease, Autosomal Dominant:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Safety and efficacy of minimally invasive percutaneous nephrolithotomy in patients with autosomal dominant polycystic kidney disease. (23924303)
2014
2
Should patients with autosomal dominant polycystic kidney disease be screened for cerebral aneurysms? (23292526)
2014
3
Myeloperoxidase-antineutrophil cytoplasmic antibody-associated crescentic glomerulonephritis in autosomal dominant polycystic kidney disease. (23617397)
2013
4
Arterial aneurysms: autosomal dominant polycystic kidney disease, Marfan syndrome or both? (24113780)
2013
5
Pain determinants of pain in autosomal dominant polycystic kidney disease. (24100745)
2013
6
Kidney volume and function in autosomal dominant polycystic kidney disease. (23864346)
2013
7
Autosomal dominant polycystic kidney disease: new insights into treatment. (23538343)
2013
8
Revascularization and rescue of a failed kidney transplant in a case of autosomal dominant polycystic kidney disease. (22516889)
2012
9
Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4I+ as a disease modifier. (23209428)
2012
10
Autosomal dominant polycystic kidney disease and hypertension are associated with left ventricular mass in a gender-dependent manner. (23235185)
2012
11
A potential salvage therapy for refractory renal cyst infection in patients with autosomal dominant polycystic kidney disease. (22127398)
2012
12
Survival after starting renal replacement treatment in patients with autosomal dominant polycystic kidney disease: a single-centre 40-year study. (22205054)
2012
13
Low birth weight is associated with earlier onset of end-stage renal disease in Danish patients with autosomal dominant polycystic kidney disease. (22297678)
2012
14
Transperitoneal laparoscopic nephrectomy for autosomal dominant polycystic kidney disease. (23318070)
2012
15
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
16
Ectopic, polycystic and stoned: pelvic kidney in a patient with autosomal dominant polycystic kidney disease. (22143132)
2012
17
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. (22383692)
2012
18
Absence of mTOR Inhibitor Effect on Hepatic Cyst Growth: A Case Report of a Kidney Transplant Recipient with Autosomal Dominant Polycystic Kidney Disease. (23304619)
2012
19
A defect in vasopressin secretion in autosomal dominant polycystic kidney disease. (23128116)
2012
20
Peripheral augmentation index and vascular inflammation in autosomal dominant polycystic kidney disease. (21292815)
2011
21
Hepatic and renal manifestations in autosomal dominant polycystic kidney disease: a dichotomy of two ends of a spectrum. (21978978)
2011
22
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). (21115670)
2011
23
Pericardial cyst: a novel extrarenal manifestation of autosomal dominant polycystic kidney disease. (22097234)
2011
24
The Gretchen question in autosomal-dominant polycystic kidney disease research. (21301792)
2011
25
Use of antihypertensive medications and mortality of patients with autosomal dominant polycystic kidney disease: a population-based study. (21458899)
2011
26
T-cell factor/I^-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease. (21389971)
2011
27
Images in clinical medicine. Autosomal dominant polycystic kidney disease. (20592299)
2010
28
Diagnosis and screening of autosomal dominant polycystic kidney disease. (20219617)
2010
29
Sirolimus attenuates disease progression in an orthologous mouse model of human autosomal dominant polycystic kidney disease. (20686448)
2010
30
Colchicine treatment in autosomal dominant polycystic kidney disease: many points in common. (19765912)
2010
31
Molecular pathogenesis of autosomal dominant polycystic kidney disease. (16515728)
2006
32
Influence of ACE I/D gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease: a meta-analysis. (16935894)
2006
33
Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese. (15775720)
2005
34
Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease. (15717641)
2005
35
Metastatic intracranial subdural empyema from renal cyst infection in autosomal dominant polycystic kidney disease. (16221706)
2005
36
Renal failure in a patient with autosomal dominant polycystic kidney disease and coexisting dermato-polymyositis: first report in the literature. (15233496)
2004
37
Chymase-like angiotensin II-generating activity in end-stage human autosomal dominant polycystic kidney disease. (14747398)
2004
38
Patients with autosomal dominant polycystic kidney disease hyperfiltrate early in their disease. (15042539)
2004
39
Structure-function relationships of the extracellular domain of the autosomal dominant polycystic kidney disease-associated protein, polycystin-1. (12633844)
2003
40
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. (11968093)
2002
41
Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. (10739800)
2000
42
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. (10655152)
2000
43
Autosomal dominant polycystic kidney disease: detection of a new mutation in the PKD1 gene]. (10413889)
1999
44
Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2. (10207066)
1999
45
A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease. (9399046)
1997
46
A role for CFTR in human autosomal dominant polycystic kidney disease. (8772467)
1996
47
Intracranial cysts in autosomal dominant polycystic kidney disease. (7490613)
1995
48
Coexpression of extracellular matrix glycoproteins undulin and tenascin in human autosomal dominant polycystic kidney disease. (7692313)
1993
49
Papillary renal cell carcinoma associated with autosomal dominant polycystic kidney disease. (8249228)
1993
50
The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. (1577479)
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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14FMA
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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