PKD2
MCID: PLY084
MIFTS: 36

Polycystic Kidney Disease, Type 2 (PKD2) malady

Summaries for Polycystic Kidney Disease, Type 2

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46OMIM, 32MalaCards
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MalaCards: Polycystic Kidney Disease, Type 2, also known as polycystic kidney disease 2, is related to polycystic kidney disease and polycystic kidney disease, autosomal dominant. An important gene associated with Polycystic Kidney Disease, Type 2 is PKD2 (polycystic kidney disease 2 (autosomal dominant)), and among its related pathways is Calcium channels. The compounds cai2+ and trp-p-2 have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description from OMIM:46 613095

Aliases & Classifications for Polycystic Kidney Disease, Type 2

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60UMLS, 42NIH Rare Diseases, 22GTR, 46OMIM, 20GeneTests, 44Novoseek
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Aliases & Descriptions:

polycystic kidney disease, type 2 42 60
polycystic kidney disease 2 42 22 46
polycystic kidney disease 2, autosomal dominant 42 20
polycystic kidney type 2 autosomal dominant disease 44
paroxysmal kinesigenic choreoathetosis 60
pkd2 42


Related Diseases for Polycystic Kidney Disease, Type 2

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17GeneCards, 18GeneDecks
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Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease, Type 1 polycystic kidney disease, type 2
Polycystic Kidney Disease, Type 3 Polycystic Kidney Disease, Adult Type I

Diseases related to Polycystic Kidney Disease, Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease30.8PKD2, PKD1, PKD2L1
2polycystic kidney disease, autosomal dominant30.7PKD2, PKD1
3polycystic kidney disease, autosomal recessive30.4PKD1, PKD2
4polycystic liver disease30.3PKD1, PKD2
5cystic kidney30.3PKD2, PKD1
6intracranial aneurysm30.0PKD1, PKD2
7kidney disease10.6
8familial paroxysmal kinesigenic dyskinesia10.6
9autosomal dominant disease10.5
10hypoparathyroidism10.5
11infantile convulsions and paroxysmal choreoathetosis, familial10.5
12dystonia 1010.5
13episodic kinesigenic dyskinesia 110.5
14myelitis10.3
15arachnoiditis10.3
16becker muscular dystrophy10.3
17muscular dystrophy10.3
18reflex epilepsy10.3
19familial paroxysmal nonkinesigenic dyskinesia10.3
20pyruvate kinase deficiency10.3
21polycystic kidney disease, type 110.3
22liver disease10.2
23breast cancer10.1
24ischemia10.1
25pancreatitis10.1
26cystic fibrosis10.1
27mucolipidosis10.1
28neuronitis10.1
29situs inversus10.1
30prostate cancer10.1
31prostatitis10.1
32retinal degeneration10.1
33retinitis10.1
34squamous cell carcinoma10.1
35endotheliitis10.1
36nephronophthisis10.0PKD2, PKD1
37aneurysm disease10.0PKD2, PKD1
38chronic kidney failure10.0PKD2, PKD1
39primary hyperoxaluria10.0PKD1, PKD2
40gout9.9
41cerebritis9.9
42autosomal genetic disease9.9
43dental caries9.9
44multiple myeloma9.9
45myeloma9.9
46pancreatic cancer9.9
47polycystic kidney disease, adult type i9.9

Graphical network of the top 20 diseases related to Polycystic Kidney Disease, Type 2:



Diseases related to polycystic kidney disease, type 2

Clinical Features for Polycystic Kidney Disease, Type 2

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46OMIM
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Clinical features from OMIM:

613095

Drugs & Therapeutics for Polycystic Kidney Disease, Type 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Polycystic Kidney Disease, Type 2

Drug clinical trials:

Search ClinicalTrials for Polycystic Kidney Disease, Type 2

Search NIH Clinical Center for Polycystic Kidney Disease, Type 2

Search CenterWatch for Polycystic Kidney Disease, Type 2

Genetic Tests for Polycystic Kidney Disease, Type 2

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20GeneTests, 22GTR
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Genetic tests related to Polycystic Kidney Disease, Type 2:

id Genetic test Affiliating Genes
1 Polycystic Kidney Disease 2, Autosomal Dominant20 PKD2
2 Polycystic Kidney Disease 222

Anatomical Context for Polycystic Kidney Disease, Type 2

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32MalaCards
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MalaCards organs/tissues related to Polycystic Kidney Disease, Type 2:

32
Kidney

Animal Models for Polycystic Kidney Disease, Type 2 or affiliated genes

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Publications for Polycystic Kidney Disease, Type 2

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Genetic Variations for Polycystic Kidney Disease, Type 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Polycystic Kidney Disease, Type 2:

62
id Symbol AA change Variation ID SNP ID
1PKD2p.Trp414GlyVAR_009195
2PKD2p.Ala356ProVAR_011073
3PKD2p.Arg306GlnVAR_058822
4PKD2p.Arg322GlnVAR_058823
5PKD2p.Arg322TrpVAR_058824
6PKD2p.Arg420GlyVAR_058825
7PKD2p.Asp511ValVAR_058827
8PKD2p.Cys632ArgVAR_058828
9PKD2p.Arg807GlnVAR_058830rs147654263
10PKD2p.Ala384ProVAR_064394

Expression for genes affiliated with Polycystic Kidney Disease, Type 2

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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, Type 2

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Pathways for genes affiliated with Polycystic Kidney Disease, Type 2

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12EMD Millipore
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Pathways related to Polycystic Kidney Disease, Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PKD1, PKD2

Compounds for genes affiliated with Polycystic Kidney Disease, Type 2

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28IUPHAR, 44Novoseek, 11DrugBank
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Compounds related to Polycystic Kidney Disease, Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cai2+289.5PKD2, PKD2L1
2trp-p-2449.4PKD1, PKD2
3gd3+289.4PKD2, PKD2L1
4la3+289.3PKD2L1, PKD2
5polyacrylamide449.3PKD1, PKD2
6amiloride44 28 1111.1PKD2, PKD2L1

GO Terms for genes affiliated with Polycystic Kidney Disease, Type 2

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16Gene Ontology
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Cellular components related to Polycystic Kidney Disease, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.3PKD1, PKD2
2polycystin complexGO:0021339.2PKD1, PKD2
3motile primary ciliumGO:0315129.0PKD1, PKD2

Biological processes related to Polycystic Kidney Disease, Type 2 according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1metanephric ascending thin limb developmentGO:0722189.6PKD2, PKD1
2sodium ion transmembrane transportGO:0357259.6PKD2, PKD2L1
3mesonephric tubule developmentGO:0721649.6PKD2, PKD1
4mesonephric duct developmentGO:0721779.6PKD1, PKD2
5positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:0316599.6PKD1, PKD2
6placenta blood vessel developmentGO:0606749.6PKD1, PKD2
7cytoplasmic sequestering of transcription factorGO:0429949.5PKD2, PKD1
8spinal cord developmentGO:0215109.5PKD1, PKD2
9neural tube developmentGO:0219159.4PKD1, PKD2
10embryonic placenta developmentGO:0018929.4PKD2, PKD1
11JAK-STAT cascadeGO:0072599.3PKD1, PKD2
12heart developmentGO:0075079.3PKD1, PKD2
13liver developmentGO:0018899.2PKD1, PKD2
14detection of mechanical stimulusGO:0509829.1PKD1, PKD2, PKD2L1
15calcium ion transmembrane transportGO:0705889.1PKD1, PKD2, PKD2L1
16cell cycle arrestGO:0070509.0PKD1, PKD2

Molecular functions related to Polycystic Kidney Disease, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3PKD1, PKD2
2cytoskeletal protein bindingGO:0080929.3PKD2, PKD2L1
3cation channel activityGO:0052619.3PKD1, PKD2L1
4calcium channel activityGO:0052629.0PKD1, PKD2L1

Products for genes affiliated with Polycystic Kidney Disease, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Polycystic Kidney Disease, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet