PKD2
MCID: PLY084
MIFTS: 38

Polycystic Kidney Disease, Type 2 (PKD2) malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Polycystic Kidney Disease, Type 2

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48OMIM, 34MalaCards
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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 sodium and trp-p-2 have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description from OMIM:48 613095

Aliases & Classifications for Polycystic Kidney Disease, Type 2

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63UMLS, 44NIH Rare Diseases, 23GTR, 48OMIM, 21GeneTests, 46Novoseek
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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, type 2 44 63
polycystic kidney disease 2 44 23 48
polycystic kidney disease 2, autosomal dominant 44 21
polycystic kidney type 2 autosomal dominant disease 46
paroxysmal kinesigenic choreoathetosis 63
pkd2 44


Related Diseases for Polycystic Kidney Disease, Type 2

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Polycystic Kidney Disease, Type 2:



Diseases related to polycystic kidney disease, type 2

Symptoms for Polycystic Kidney Disease, Type 2

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48OMIM
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Clinical features from OMIM:

613095

Drugs & Therapeutics for Polycystic Kidney Disease, Type 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Polycystic Kidney Disease, Type 2:

id Genetic test Affiliating Genes
1 Polycystic Kidney Disease 2, Autosomal Dominant21 PKD2
2 Polycystic Kidney Disease 223

Anatomical Context for Polycystic Kidney Disease, Type 2

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34MalaCards
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MalaCards organs/tissues related to Polycystic Kidney Disease, Type 2:

34
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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53PubMed
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Articles related to Polycystic Kidney Disease, Type 2:

idTitleAuthorsYear
1
Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). (17182135)
2007
2
Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2]. (15300626)
2004
3
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. (11007674)
2000
4
Autosomal dominant polycystic kidney disease, type 2 (PKD2 disease). (10561750)
1999
5
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. (10417277)
1999

Variations for Polycystic Kidney Disease, Type 2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease, Type 2:

65
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

Clinvar genetic disease variations for Polycystic Kidney Disease, Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1PKD2NM_000297.3(PKD2): c.1139G> A (p.Trp380Ter)single nucleotide variantPathogenicrs121918039GRCh37Chr 4, 88964429: 88964429
2PKD2NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter)single nucleotide variantPathogenicrs121918040GRCh37Chr 4, 88986631: 88986631
3PKD2NM_000297.3(PKD2): c.1213C> T (p.Gln405Ter)single nucleotide variantPathogenicrs121918041GRCh37Chr 4, 88964503: 88964503
4PKD2NM_000297.3(PKD2): c.1390C> T (p.Arg464Ter)single nucleotide variantPathogenicrs121918042GRCh37Chr 4, 88967864: 88967864
5PKD2NM_000297.3(PKD2): c.1532A> T (p.Asp511Val)single nucleotide variantPathogenicrs121918043GRCh37Chr 4, 88968006: 88968006
6PKD2NC_000004.11: g.88957372-?_89042944+?dupduplicationPathogenic
7PKD2NM_000297.3(PKD2): c.305_306insGAG (p.Glu102_Val103insArg)insertionPathogenicrs398122932GRCh37Chr 4, 88929190: 88929191

Expression for genes affiliated with Polycystic Kidney Disease, Type 2

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2BioGPS, 16Gene 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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51PathCards, 13EMD 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
19.0PKD2, PKD1

Compounds for genes affiliated with Polycystic Kidney Disease, Type 2

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46Novoseek, 25HMDB
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Compounds related to Polycystic Kidney Disease, Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium46 2510.0PKD2, PKD1
2trp-p-2468.9PKD2, PKD1
3polyacrylamide468.7PKD2, PKD1

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

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17Gene Ontology
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Cellular components related to Polycystic Kidney Disease, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.0PKD2, PKD1
2polycystin complexGO:0021338.9PKD2, PKD1
3motile primary ciliumGO:0315128.7PKD2, PKD1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1mesonephric tubule developmentGO:0721649.3PKD2, PKD1
2metanephric ascending thin limb developmentGO:0722189.3PKD2, PKD1
3mesonephric duct developmentGO:0721779.3PKD2, PKD1
4positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:0316599.3PKD1, PKD2
5placenta blood vessel developmentGO:0606749.3PKD2, PKD1
6detection of mechanical stimulusGO:0509829.3PKD2, PKD1
7cytoplasmic sequestering of transcription factorGO:0429949.2PKD2, PKD1
8spinal cord developmentGO:0215109.2PKD1, PKD2
9neural tube developmentGO:0219159.2PKD2, PKD1
10embryonic placenta developmentGO:0018929.1PKD2, PKD1
11JAK-STAT cascadeGO:0072599.1PKD2, PKD1
12calcium ion transmembrane transportGO:0705889.0PKD1, PKD2
13heart developmentGO:0075079.0PKD2, PKD1
14liver developmentGO:0018898.9PKD2, PKD1
15cell cycle arrestGO:0070508.7PKD2, PKD1

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.0PKD2, PKD1

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet