MCID: PLY026
MIFTS: 35

Polycystic Kidney Disease, Autosomal Dominant malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Polycystic Kidney Disease, Autosomal Dominant

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NIH Rare Diseases:41 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 based summary: 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, brain and heart, and related mouse phenotypes are renal/urinary system and liver/biliary system.

GeneReviews summary for pkd-ad

Aliases & Classifications for Polycystic Kidney Disease, Autosomal Dominant

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Polycystic Kidney Disease, Autosomal Dominant, Aliases & Descriptions:

Name: Polycystic Kidney Disease, Autosomal Dominant 19
Adpkd 19 41 43
Autosomal Dominant Polycystic Kidney Disease 41 20
 
Polycystic Kidney Disease, Adult Type 41 22
Polycystic Kidney, Autosomal Dominant 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


External Ids:

ICD1025 Q61.2

Related Diseases for Polycystic Kidney Disease, Autosomal Dominant

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Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 2 Polycystic Kidney Disease, Adult Type I
polycystic kidney disease, autosomal dominant Polycystic Kidney Disease, Type 3

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease31.3PKD1, PKD2
2aneurysm31.1PKD2, PKD1
3intracranial aneurysm31.0PKD1, PKD2
4polycystic liver disease30.9PKD1, PKD2
5polycystic kidney disease 230.6PKD1, PKD2
6primary hyperoxaluria30.2PKD1, PKD2
7cystic kidney30.0PKD2, PKD1
8hepatitis10.8
9kidney disease10.8
10endotheliitis10.8
11renal cell carcinoma10.7
12nephrolithiasis10.6
13congenital hepatic fibrosis10.6
14cystic fibrosis10.6
15liver disease10.6
16marfan syndrome10.5
17glomerulonephritis10.5
18tuberous sclerosis10.5
19adenoma10.5
20aortic aneurysm10.5
21peritonitis10.5
22pyelonephritis10.5
23polycystic kidney disease, infantile severe, with tuberous sclerosis10.4
24situs inversus10.4
25hyperaldosteronism10.4
26budd-chiari syndrome10.3
27aniridia10.3
28glomerulocystic kidney disease with hyperuricemia and isosthenuria10.3
29polycystic kidney disease, adult type i10.3
30end stage renal failure10.3
31pyuria10.3
32acute pancreatitis10.3
33membranous glomerulonephritis10.3
34caroli disease10.3
35bronchiectasis10.3
36acromegaly10.3
37priapism10.3
38osteomalacia10.3
39ureterocele10.3
40abdominal aortic aneurysm10.3
41paralytic ileus10.3
42diastolic heart failure10.3
43nephrocalcinosis10.3
44potter's syndrome10.3
45hypertensive heart disease10.3
46papillary adenoma10.3
47xanthogranulomatous pyelonephritis10.3
48junctional epidermolysis bullosa10.3
49central nervous system lymphoma10.3
50pulmonary edema10.3

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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Drug clinical trials:

Search ClinicalTrials for Polycystic Kidney Disease, Autosomal Dominant

Search NIH Clinical Center for Polycystic Kidney Disease, Autosomal Dominant

Genetic Tests for Polycystic Kidney Disease, Autosomal Dominant

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

31
Kidney, Brain, Heart, Liver

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1PKD2, PKD1
2MP:00053708.8PKD2, PKD1

Publications for Polycystic Kidney Disease, Autosomal Dominant

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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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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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Pathways related to Polycystic Kidney Disease, Autosomal Dominant according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

Compounds for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Polycystic Kidney Disease, Autosomal Dominant according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1sodium43 2410.1PKD2, PKD1
2trp-p-2439.0PKD2, PKD1
3polyacrylamide438.8PKD2, PKD1

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:00021339.1PKD2, PKD1
2integral component of plasma membraneGO:00058879.1PKD2, PKD1
3motile primary ciliumGO:00315129.0PKD2, PKD1
4ciliumGO:00059298.8PKD2, PKD1

Biological processes related to Polycystic Kidney Disease, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1mesonephric tubule developmentGO:00721649.4PKD2, PKD1
2metanephric ascending thin limb developmentGO:00722189.4PKD2, PKD1
3mesonephric duct developmentGO:00721779.4PKD2, PKD1
4positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:00316599.4PKD2, PKD1
5placenta blood vessel developmentGO:00606749.4PKD1, PKD2
6detection of mechanical stimulusGO:00509829.4PKD2, PKD1
7cytoplasmic sequestering of transcription factorGO:00429949.4PKD2, PKD1
8spinal cord developmentGO:00215109.3PKD2, PKD1
9neural tube developmentGO:00219159.3PKD1, PKD2
10embryonic placenta developmentGO:00018929.3PKD2, PKD1
11JAK-STAT cascadeGO:00072599.2PKD2, PKD1
12calcium ion transmembrane transportGO:00705889.2PKD2, PKD1
13liver developmentGO:00018899.1PKD1, PKD2
14positive regulation of transcription from RNA polymerase II promoterGO:00459449.1PKD2, PKD1
15cell cycle arrestGO:00070509.0PKD2, PKD1
16heart developmentGO:00075078.8PKD2, PKD1

Molecular functions related to Polycystic Kidney Disease, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.1PKD2, PKD1

Products for genes affiliated with Polycystic Kidney Disease, Autosomal Dominant

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  • Kits and Assays

Sources for Polycystic Kidney Disease, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet