MCID: PLY060
MIFTS: 41

Polycystic Kidney Disease 2 malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Aliases & Classifications for Polycystic Kidney Disease 2

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
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Polycystic Kidney Disease 2, Aliases & Descriptions:

Name: Polycystic Kidney Disease 2 45 10 41
Polycystic Kidney Disease, Type 2 41 22 60
Polycystic Kidney Disease 2, Autosomal Dominant 41 20
 
Polycystic Kidney Type 2 Autosomal Dominant Disease 43
Pkd2 41


Classifications:

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


External Ids:

OMIM45 613095

Summaries for Polycystic Kidney Disease 2

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Wikipedia:63 Polycystin-2 is a protein that in humans is encoded by the PKD2 gene. more...

MalaCards based summary: Polycystic Kidney Disease 2, also known as polycystic kidney disease, type 2, is related to polycystic kidney disease, autosomal dominant and polycystic kidney disease, and has symptoms including autosomal dominant inheritance, renal insufficiency and polycystic kidney dysplasia. An important gene associated with Polycystic Kidney Disease 2 is PKD2 (polycystic kidney disease 2 (autosomal dominant)), and among its related pathways is Calcium channels. The compounds trp-p-2 and cai2+ have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver.

Description from OMIM:45 613095

Related Diseases for Polycystic Kidney Disease 2

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Graphical network of diseases related to Polycystic Kidney Disease 2:



Diseases related to polycystic kidney disease 2

Symptoms for Polycystic Kidney Disease 2

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Clinical features from OMIM:

613095

HPO human phenotypes related to Polycystic Kidney Disease 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 2

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Drug clinical trials:

Search ClinicalTrials for Polycystic Kidney Disease 2

Search NIH Clinical Center for Polycystic Kidney Disease 2

Genetic Tests for Polycystic Kidney Disease 2

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Genetic tests related to Polycystic Kidney Disease 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 2

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MalaCards organs/tissues related to Polycystic Kidney Disease 2:

31
Kidney, Liver

Animal Models for Polycystic Kidney Disease 2 or affiliated genes

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Publications for Polycystic Kidney Disease 2

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Articles related to Polycystic Kidney Disease 2:

idTitleAuthorsYear
1
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). (23390131)
2013
2
Construction of a transgenic pig model overexpressing polycystic kidney disease 2 (PKD2) gene. (23315160)
2013
3
Polymorphisms of four microsatellite markers tightly linked with polycystic kidney disease 2 gene in Chinese]. (11836683)
2002
4
Mutations of the human polycystic kidney disease 2 (PKD2) gene. (11438989)
2001
5
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. (9573526)
1998
6
Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). (9286709)
1997
7
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). (9175744)
1997
8
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. (9402976)
1997
9
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. (8591848)
1996

Variations for Polycystic Kidney Disease 2

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UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 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

Clinvar genetic disease variations for Polycystic Kidney Disease 2:

6 (show all 11)
id Gene Variation 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 2

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

Pathways for genes affiliated with Polycystic Kidney Disease 2

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Pathways related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

Compounds for genes affiliated with Polycystic Kidney Disease 2

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Sources:
43Novoseek, 28IUPHAR, 12DrugBank
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Compounds related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1trp-p-2439.7PKD2, PKD1
2cai2+289.5PKD2L1, PKD2
3amiloride43 28 1211.5PKD2L1, PKD2
4gd3+289.4PKD2, PKD2L1
5la3+289.2PKD2L1, PKD2

GO Terms for genes affiliated with Polycystic Kidney Disease 2

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Cellular components related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:00021339.8PKD2, PKD1
2motile primary ciliumGO:00315129.7PKD2, PKD1
3lamellipodiumGO:00300279.7PKD2, HAX1
4ciliary membraneGO:00601709.5PKD2L1, PKD2
5ciliumGO:00059299.3PKD2, PKD1
6endoplasmic reticulumGO:00057839.0HAX1, PKD2, PKD2L1

Biological processes related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1metanephric ascending thin limb developmentGO:00722189.9PKD1, PKD2
2mesonephric tubule developmentGO:00721649.9PKD1, PKD2
3mesonephric duct developmentGO:00721779.9PKD2, PKD1
4positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:00316599.9PKD1, PKD2
5placenta blood vessel developmentGO:00606749.9PKD2, PKD1
6cytoplasmic sequestering of transcription factorGO:00429949.9PKD2, PKD1
7spinal cord developmentGO:00215109.8PKD2, PKD1
8neural tube developmentGO:00219159.8PKD2, PKD1
9cellular response to reactive oxygen speciesGO:00346149.8PKD2, PDK2
10embryonic placenta developmentGO:00018929.8PKD1, PKD2
11JAK-STAT cascadeGO:00072599.8PKD2, PKD1
12liver developmentGO:00018899.6PKD2, PKD1
13heart developmentGO:00075079.6PKD2, PKD1
14sodium ion transmembrane transportGO:00357259.5PKD2, PKD2L1
15calcium ion transmembrane transportGO:00705889.4PKD2L2, PKD2, PKD1
16cell cycle arrestGO:00070509.3PKD2, PKD1
17positive regulation of transcription from RNA polymerase II promoterGO:00459449.1HAX1, PKD1, PKD2
18detection of mechanical stimulusGO:00509828.8PKD2L2, PKD2L1, PKD2, PKD1

Molecular functions related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:00513719.5PKD2L1, PKD2
2cation channel activityGO:00052619.4PKD2L1, PKD1
3cytoskeletal protein bindingGO:00080929.4PKD2, PKD2L1
4ion channel bindingGO:00443259.3PKD2, PKD1
5calcium channel activityGO:00052629.0PKD2L2, PKD2L1, PKD1
6calcium ion bindingGO:00055099.0PKD2L2, PKD2L1, PKD2

Products for genes affiliated with Polycystic Kidney Disease 2

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Sources for Polycystic Kidney Disease 2

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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