ADPKD
MCID: PLY026
MIFTS: 45

Polycystic Kidney Disease, Autosomal Dominant (ADPKD) malady

Nephrological category

Summaries for Polycystic Kidney Disease, Autosomal Dominant

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43NIH Rare Diseases, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 brain, spinal cord and heart.

Wikipedia:64 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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 61UMLS, 25ICD10
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Classifications:

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


Aliases & Descriptions:

polycystic kidney disease, autosomal dominant 19
adpkd 19 43 45
autosomal dominant polycystic kidney disease 43 20
polycystic kidney disease, adult type 43 22
polycystic kidney, autosomal dominant 61


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ICD1025 Q61.2

Related Diseases for Polycystic Kidney Disease, Autosomal Dominant

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17GeneCards, 18GeneDecks
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Diseases in the polycystic kidney disease, autosomal recessive family:

polycystic kidney disease, autosomal dominant autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

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

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease31.4PKD1, PKD2
2aneurysm disease31.3PKD2, PKD1
3polycystic liver disease31.1PKD1, PKD2
4intracranial aneurysm31.0PKD2, PKD1
5cystic fibrosis30.8PKD1
6polycystic kidney disease, type 230.4PKD1, PKD2
7polycystic kidney disease, autosomal recessive30.4PKD1, PKD2
8primary hyperoxaluria30.3PKD1, PKD2
9autosomal dominant disease11.1
10congenital hepatic fibrosis10.7
11nephrolithiasis10.7
12kidney hypertrophy10.6
13marfan syndrome10.5
14renal agenesis10.5
15adenoma10.5
16aortic aneurysm10.5
17aortic disease10.5
18autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.5
19papillary carcinoma10.4
20tuberous sclerosis10.4
21papillary renal cell carcinoma10.4
22papillary renal carcinoma10.4
23septic shock10.4
24insulin resistance10.4
25lip disease10.4
26unilateral renal agenesis10.4
27polycystic kidney disease, adult type i10.4
28peripheral vascular disease10.3
29coronary artery disease,10.3
30crescentic glomerulonephritis10.3
31paralytic ileus10.3
32membranous glomerulonephritis10.3
33acute pancreatitis10.3
34pyuria10.3
35cholera10.3
36sigmoid disease10.3
37xanthogranulomatous pyelonephritis10.3
38sotos syndrome10.3
39junctional epidermolysis bullosa10.3
40central nervous system lymphoma10.3
41subdural empyema10.3
42hypophosphatemia10.3
43coronary aneurysm10.3
44hydronephrosis10.3
45aniridia10.3
46proliferative glomerulonephritis10.3
47intracranial hypotension10.3
48osteomalacia10.3
49bronchiectasis10.3
50portal hypertension10.3

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

Drugs & Therapeutics for Polycystic Kidney Disease, Autosomal Dominant

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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33MalaCards
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MalaCards organs/tissues related to Polycystic Kidney Disease, Autosomal Dominant:

33
Brain, Spinal cord, Heart, Kidney, Liver, Pancreas, Monocytes, T cells, B cells, Endothelial, Fetal liver, Pituitary

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

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28inGenious Targeting Laboratory
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Publications for Polycystic Kidney Disease, Autosomal Dominant

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51PubMed
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Articles related to Polycystic Kidney Disease, Autosomal Dominant:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Renal Relevant Radiology: Radiologic Imaging in Autosomal Dominant Polycystic Kidney Disease. (24370765)
2013
2
FDG PET/CT repeatedly demonstrated hepatic cyst infection in a patient with autosomal dominant polycystic kidney disease. (23429392)
2013
3
Cost-effectiveness of tolvaptan in autosomal dominant polycystic kidney disease. (24042366)
2013
4
Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and potential therapies. (23192769)
2013
5
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation. (21744088)
2012
6
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
7
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. (23064367)
2012
8
Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: clinical and genetical findings. (23431742)
2012
9
New onset diabetes after kidney transplantation in autosomal dominant polycystic kidney disease: a retrospective cohort study. (21854501)
2012
10
Therapeutic challenge of ERCP for biliary decompression in a patient with autosomal dominant polycystic kidney disease and polycystic liver disease and pancreaticoduodenectomy anatomy. (22281112)
2012
11
Massive proteinuria and autosomal dominant polycystic kidney disease: a rare coincidence. (22218124)
2012
12
Deceased donor kidney transplantation in autosomal dominant polycystic kidney disease: a single-center experience. (21912018)
2011
13
A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. (21818326)
2011
14
A case of renal transcatheter arterial embolization with ethanol in autosomal dominant polycystic kidney disease for volume reduction. (22037273)
2011
15
Positron-emission computed tomography in cyst infection diagnosis in patients with autosomal dominant polycystic kidney disease. (21700816)
2011
16
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
17
Peritoneal dialysis as the first-line renal replacement therapy in patients with autosomal dominant polycystic kidney disease. (21458901)
2011
18
Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease]. (21983717)
2011
19
The prevalence of hypertension and nephrolithiasis in a sample of Iraqi patients with autosomal-dominant polycystic kidney disease. (21912048)
2011
20
Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease. (21088290)
2011
21
HLA-B27 is a potential risk factor for posttransplantation diabetes mellitus in autosomal dominant polycystic kidney disease patients. (21094798)
2010
22
Spontaneous coronary artery dissection: One more extrarenal manifestation of autosomal dominant polycystic kidney disease? (19557720)
2009
23
Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. (18263686)
2008
24
Renal and cardiac effects of antihypertensive treatment with ramipril vs metoprolol in autosomal dominant polycystic kidney disease. (17984104)
2008
25
Influence of VEGF polymorphism on progression of autosomal dominant polycystic kidney disease. (19060482)
2008
26
Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. (19035693)
2008
27
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. (17429049)
2007
28
Research on autosomal dominant polycystic kidney disease in China. (17134592)
2006
29
Cardiovascular polycystins: insights from autosomal dominant polycystic kidney disease and transgenic animal models. (17055386)
2006
30
The influence of G-protein beta3-subunit gene and endothelial nitric oxide synthase gene in exon 7 polymorphisms on progression of autosomal dominant polycystic kidney disease. (15287194)
2004
31
A 4-year-old girl with autosomal dominant polycystic kidney disease complicated by a ruptured intracranial aneurysm. (15322866)
2004
32
Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease. (12653106)
2003
33
No effect of enalapril on progression in autosomal dominant polycystic kidney disease. (14551359)
2003
34
Variable renal disease progression in autosomal dominant polycystic kidney disease: a role for nitric oxide? (12832751)
2003
35
Molecular basis of autosomal-dominant polycystic kidney disease. (12022474)
2002
36
Compromised cytoarchitecture and polarized trafficking in autosomal dominant polycystic kidney disease cells. (10747091)
2000
37
Simple nephrectomy: managing the difficult case: xanthogranulomatous pyelonephritis and autosomal dominant polycystic kidney disease. (11206612)
2000
38
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. (10364515)
1999
39
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). (9326320)
1997
40
Neonatal presentation of autosomal dominant polycystic kidney disease with a maternal history of tuberous sclerosis. (9394312)
1997
41
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. (9259200)
1997
42
The NTN2L gene encoding a novel human netrin maps to the autosomal dominant polycystic kidney disease region on chromosome 16p13.3. (9143507)
1997
43
Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease. (9044320)
1996
44
Dysregulation of cellular proliferation and apoptosis mediates human autosomal dominant polycystic kidney disease (ADPKD). (8808689)
1996
45
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. (7581371)
1995
46
Membranous glomerulonephritis associated with autosomal dominant polycystic kidney disease. (8247200)
1993
47
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. (8298643)
1993
48
Autosomal dominant polycystic kidney disease with primary hyperaldosteronism. (1323077)
1992
49
The response of GFR to amino acids differs between autosomal dominant polycystic kidney disease (ADPKD) and glomerular disease. (1320229)
1992
50
Linkage exclusion between the autosomal dominant polycystic kidney disease locus and chromosome 16 markers in a new family. (1684301)
1991

Genetic Variations for Polycystic Kidney Disease, Autosomal Dominant

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

Search GEO for disease gene expression data for Polycystic Kidney Disease, Autosomal Dominant.

Pathways for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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12EMD Millipore
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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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45Novoseek, 24HMDB
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Compounds related to Polycystic Kidney Disease, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium45 2410.1PKD1, PKD2
2trp-p-2459.0PKD1, PKD2
3polyacrylamide458.8PKD1, PKD2

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

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16Gene Ontology
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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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet