ADPKD
MCID: PLY026
MIFTS: 40

Polycystic Kidney Disease, Autosomal Dominant (ADPKD) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Polycystic Kidney Disease, Autosomal Dominant

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43NIH Rare Diseases, 65Wikipedia, 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. 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, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Wikipedia:65 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, 43NIH Rare Diseases, 45Novoseek, 20GeneTests, 22GTR, 62UMLS, 25ICD10
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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, 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 62


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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 105)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease31.4PKD2, PKD1
2aneurysm31.2PKD1, PKD2
3intracranial aneurysm31.0PKD2, PKD1
4polycystic kidney disease, type 230.9PKD2, PKD1
5polycystic liver disease30.7PKD1, PKD2
6primary hyperoxaluria30.3PKD2, PKD1
7cystic kidney30.0PKD2, PKD1
8hepatitis10.8
9kidney disease10.8
10endotheliitis10.8
11congenital hepatic fibrosis10.7
12nephrolithiasis10.6
13renal cell carcinoma10.6
14polycystic kidney disease, type 110.6
15cystic fibrosis10.6
16renal agenesis10.5
17marfan syndrome10.5
18adenoma10.5
19aortic aneurysm10.5
20diabetes mellitus10.5
21glomerulonephritis10.5
22peritonitis10.5
23pyelonephritis10.5
24autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.5
25tuberous sclerosis10.4
26papillary renal cell carcinoma10.4
27hyperaldosteronism10.4
28liver disease10.4
29septic shock10.4
30insulin resistance10.4
31polycystic kidney disease, adult type i10.4
32hypertension10.3
33pyuria10.3
34acute pancreatitis10.3
35membranous glomerulonephritis10.3
36caroli disease10.3
37bronchiectasis10.3
38portal hypertension10.3
39acromegaly10.3
40priapism10.3
41osteomalacia10.3
42ureterocele10.3
43abdominal aortic aneurysm10.3
44paralytic ileus10.3
45situs inversus10.3
46nephrocalcinosis10.3
47hypertensive heart disease10.3
48potter's syndrome10.3
49papillary adenoma10.3
50xanthogranulomatous pyelonephritis10.3

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



Diseases related to polycystic kidney disease, autosomal dominant

Symptoms for Polycystic Kidney Disease, Autosomal Dominant

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Drugs & Therapeutics for Polycystic Kidney Disease, Autosomal Dominant

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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
Kidney, Liver, Brain, Heart, Pancreas

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

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MGI Mouse Phenotypes related to Polycystic Kidney Disease, Autosomal Dominant:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1PKD2, PKD1
2MP:00053708.8PKD2, PKD1

Publications for Polycystic Kidney Disease, Autosomal Dominant

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52PubMed
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Articles related to Polycystic Kidney Disease, Autosomal Dominant:

idTitleAuthorsYear
1
Polycystic Kidney Disease, Autosomal Dominant (20301424)
1993

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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2BioGPS, 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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50PathCards, 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
19.1PKD2, PKD1

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 2410.1PKD2, PKD1
2trp-p-2459.0PKD2, PKD1
3polyacrylamide458.8PKD2, PKD1

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
1polycystin complexGO:0021339.1PKD2, PKD1
2integral component of plasma membraneGO:0058879.1PKD2, PKD1
3motile primary ciliumGO:0315129.0PKD2, PKD1
4ciliumGO:0059298.8PKD2, PKD1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1mesonephric tubule developmentGO:0721649.4PKD2, PKD1
2metanephric ascending thin limb developmentGO:0722189.4PKD2, PKD1
3mesonephric duct developmentGO:0721779.4PKD2, PKD1
4positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:0316599.4PKD2, PKD1
5placenta blood vessel developmentGO:0606749.4PKD1, PKD2
6detection of mechanical stimulusGO:0509829.4PKD2, PKD1
7cytoplasmic sequestering of transcription factorGO:0429949.4PKD2, PKD1
8spinal cord developmentGO:0215109.3PKD2, PKD1
9neural tube developmentGO:0219159.3PKD1, PKD2
10embryonic placenta developmentGO:0018929.3PKD2, PKD1
11JAK-STAT cascadeGO:0072599.2PKD2, PKD1
12calcium ion transmembrane transportGO:0705889.2PKD2, PKD1
13liver developmentGO:0018899.1PKD1, PKD2
14positive regulation of transcription from RNA polymerase II promoterGO:0459449.1PKD2, PKD1
15cell cycle arrestGO:0070509.0PKD2, PKD1
16heart developmentGO:0075078.8PKD2, PKD1

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

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

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet