PKD2
MCID: PLY084
MIFTS: 38

Polycystic Kidney Disease, Type 2 (PKD2) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
Download this MalaCard

Summaries for Polycystic Kidney Disease, Type 2

About this section


Fully expand this MalaCard
MalaCards based summary: Polycystic Kidney Disease, Type 2, also known as polycystic kidney disease 2, is related to polycystic kidney disease and polycystic kidney disease, autosomal dominant, and has symptoms including 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:46 613095

Aliases & Classifications for Polycystic Kidney Disease, Type 2

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 62UMLS
See all sources

Polycystic Kidney Disease, Type 2, Aliases & Descriptions:

Name: Polycystic Kidney Disease, Type 2 42 62
Polycystic Kidney Disease 2 42 22 46
Polycystic Kidney Disease 2, Autosomal Dominant 42 20
 
Polycystic Kidney Type 2 Autosomal Dominant Disease 44
Pkd2 42


Classifications:

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


Related Diseases for Polycystic Kidney Disease, Type 2

About this section

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



Diseases related to polycystic kidney disease, type 2

Symptoms for Polycystic Kidney Disease, Type 2

About this section


Clinical features from OMIM:

613095

HPO human phenotypes related to Polycystic Kidney Disease, Type 2:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal insufficiency HP:0000083
3 polycystic kidney dysplasia HP:0000113

Drugs & Therapeutics for Polycystic Kidney Disease, Type 2

About this section

Drug clinical trials:

Search ClinicalTrials for Polycystic Kidney Disease, Type 2

Search NIH Clinical Center for Polycystic Kidney Disease, Type 2

Genetic Tests for Polycystic Kidney Disease, Type 2

About this section

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

About this section

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

32
Kidney

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

About this section

Publications for Polycystic Kidney Disease, Type 2

About this section

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

About this section

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

64
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:

6 (show all 11)
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
4PKD2PKD2, 1-BP INS, 693CinsertionPathogenic
5PKD2NM_000297.3(PKD2): c.1390C> T (p.Arg464Ter)single nucleotide variantPathogenicrs121918042GRCh37Chr 4, 88967864: 88967864
6PKD2PKD2, 1-BP INS, 2160AinsertionPathogenic
7PKD2PKD2, 1-BP INS, 197-203CinsertionPathogenic
8PKD2NM_000297.3(PKD2): c.1532A> T (p.Asp511Val)single nucleotide variantPathogenicrs121918043GRCh37Chr 4, 88968006: 88968006
9PKD2PKD2, 2-BP DEL/1-BP INS, NT1934indelPathogenic
10PKD2NC_000004.11: g.88957372-?_89042944+?dupduplicationPathogenic
11PKD2NM_000297.3(PKD2): c.305_306insGAG (p.Glu102_Val103insArg)insertionPathogenicrs398122932GRCh37Chr 4, 88929190: 88929191

Expression for genes affiliated with Polycystic Kidney Disease, Type 2

About this section
Expression patterns in normal tissues for genes affiliated with Polycystic Kidney Disease, Type 2

Search GEO for disease gene expression data for Polycystic Kidney Disease, Type 2.

Pathways for genes affiliated with Polycystic Kidney Disease, Type 2

About this section

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

About this section
Sources:
44Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1sodium44 2410.0PKD2, PKD1
2trp-p-2448.9PKD2, PKD1
3polyacrylamide448.7PKD2, PKD1

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Polycystic Kidney Disease, Type 2

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet