MCID: PLY139
MIFTS: 38

Polycystic Kidney Disease 3

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Polycystic Kidney Disease 3

MalaCards integrated aliases for Polycystic Kidney Disease 3:

Name: Polycystic Kidney Disease 3 53 12 71 28 14
Polycystic Kidney Disease, Adult, Type Iii 53 12 71
Apkd3 53 12 71
Pkd3 53 12 71
Polycystic Kidney Disease, Adult, Type Iii; Apkd3 53
Polycystic Kidney Disease 3, Autosomal Dominant 69
Polycystic Kidney Disease, Type 3 72

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in mid- to late-adulthood
highly variable severity
renal disease is typically mild


HPO:

31
polycystic kidney disease 3:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 53 600666
Disease Ontology 12 DOID:0110860
MeSH 41 D007690
UMLS 69 C3887964

Summaries for Polycystic Kidney Disease 3

OMIM : 53 Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by Porath et al., 2016). For a discussion of genetic heterogeneity of PKD, see PKD1 (173900). (600666)

MalaCards based summary : Polycystic Kidney Disease 3, also known as polycystic kidney disease, adult, type iii, is related to polycystic kidney disease 4 with or without hepatic disease and polycystic kidney disease, and has symptoms including polycystic kidney dysplasia, hypertension and hepatic cysts. An important gene associated with Polycystic Kidney Disease 3 is GANAB (Glucosidase II Alpha Subunit). Affiliated tissues include kidney and liver, and related phenotype is Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance.

Disease Ontology : 12 A autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.

UniProtKB/Swiss-Prot : 71 Polycystic kidney disease 3: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant.

Wikipedia : 72 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder... more...

Related Diseases for Polycystic Kidney Disease 3

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 3:



Diseases related to Polycystic Kidney Disease 3

Symptoms & Phenotypes for Polycystic Kidney Disease 3

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
hypertension (in some patients)
intracranial aneurysm (1 family)

Genitourinary Kidneys:
renal cysts
renal dysfunction (in some patients)

Abdomen Liver:
liver cysts
liver dysfunction (in some patients)


Clinical features from OMIM:

600666

Human phenotypes related to Polycystic Kidney Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 31 HP:0000113
2 hypertension 31 occasional (7.5%) HP:0000822
3 hepatic cysts 31 HP:0001407
4 decreased liver function 31 occasional (7.5%) HP:0001410
5 dilatation of the cerebral artery 31 HP:0004944

GenomeRNAi Phenotypes related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.8 PKD1 PKD2 PRKD1

Drugs & Therapeutics for Polycystic Kidney Disease 3

Search Clinical Trials , NIH Clinical Center for Polycystic Kidney Disease 3

Genetic Tests for Polycystic Kidney Disease 3

Genetic tests related to Polycystic Kidney Disease 3:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 3 28 GANAB

Anatomical Context for Polycystic Kidney Disease 3

MalaCards organs/tissues related to Polycystic Kidney Disease 3:

38
Kidney, Liver

Publications for Polycystic Kidney Disease 3

Articles related to Polycystic Kidney Disease 3:

# Title Authors Year
1
Elevated protein kinase D3 (PKD3) expression supports proliferation of triple-negative breast cancer cells and contributes to mTORC1-S6K1 pathway activation. ( 24337579 )
2014
2
GIT1 phosphorylation on serine 46 by PKD3 regulates paxillin trafficking and cellular protrusive activity. ( 22893698 )
2012
3
PKD2 and PKD3 promote prostate cancer cell invasion by modulating NF-I_B- and HDAC1-mediated expression and activation of uPA. ( 22797919 )
2012
4
[PKD3 contributes to up-regulation of prostate-specific antigen in prostate cancer cells]. ( 20813663 )
2010
5
A role for PKD1 and PKD3 activation in modulation of calcium oscillations induced by orexin receptor 1 stimulation. ( 20621130 )
2010
6
PKD3 is the predominant protein kinase D isoform in mouse exocrine pancreas and promotes hormone-induced amylase secretion. ( 19028687 )
2009
7
Protein kinase D3 (PKD3) contributes to prostate cancer cell growth and survival through a PKCepsilon/PKD3 pathway downstream of Akt and ERK 1/2. ( 18483269 )
2008

Variations for Polycystic Kidney Disease 3

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 3:

71
# Symbol AA change Variation ID SNP ID
1 GANAB p.Thr383Arg VAR_077090 rs879255642
2 GANAB p.Arg400Leu VAR_077091 rs770519542
3 GANAB p.Arg817Trp VAR_077092 rs879255643

ClinVar genetic disease variations for Polycystic Kidney Disease 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GANAB NM_198335.3(GANAB): c.1265G> T (p.Arg422Leu) single nucleotide variant Pathogenic rs770519542 GRCh38 Chromosome 11, 62630788: 62630788
2 GANAB NM_198335.3(GANAB): c.1914_1915delAG (p.Asp640Glnfs) deletion Pathogenic rs879255641 GRCh38 Chromosome 11, 62629281: 62629282
3 GANAB NM_198335.3(GANAB): c.1214C> G (p.Thr405Arg) single nucleotide variant Pathogenic rs879255642 GRCh38 Chromosome 11, 62631032: 62631032
4 GANAB NM_198335.3(GANAB): c.2690+2_2690+7del deletion Pathogenic rs886037848 GRCh38 Chromosome 11, 62626328: 62626333
5 GANAB NM_198335.3(GANAB): c.2515C> T (p.Arg839Trp) single nucleotide variant Pathogenic rs879255643 GRCh37 Chromosome 11, 62394105: 62394105
6 GANAB NM_198334.2(GANAB): c.152_153delGA (p.Arg51Lysfs) deletion Pathogenic rs752158933 GRCh37 Chromosome 11, 62406930: 62406931

Expression for Polycystic Kidney Disease 3

Search GEO for disease gene expression data for Polycystic Kidney Disease 3.

Pathways for Polycystic Kidney Disease 3

GO Terms for Polycystic Kidney Disease 3

Cellular components related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.67 GANAB HDAC5 PKD1 PRKD1
2 cilium GO:0005929 9.33 ANKS6 PKD1 PKD2
3 motile cilium GO:0031514 9.32 PKD1 PKD2
4 ciliary membrane GO:0060170 9.26 PKD1 PKD2
5 cell projection GO:0042995 9.26 ANKS6 PKD1 PKD2 SSH1
6 polycystin complex GO:0002133 8.62 PKD1 PKD2

Biological processes related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.84 HDAC5 PKD1 PKD2 PRKD1
2 calcium ion transmembrane transport GO:0070588 9.61 PKD1 PKD2 PKDREJ
3 liver development GO:0001889 9.55 PKD1 PKD2
4 neural tube development GO:0021915 9.52 PKD1 PKD2
5 spinal cord development GO:0021510 9.51 PKD1 PKD2
6 JAK-STAT cascade GO:0007259 9.49 PKD1 PKD2
7 embryonic placenta development GO:0001892 9.48 PKD1 PKD2
8 renal system development GO:0072001 9.46 PKD1 PKD2
9 placenta blood vessel development GO:0060674 9.4 PKD1 PKD2
10 cytoplasmic sequestering of transcription factor GO:0042994 9.37 PKD1 PKD2
11 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.32 PKD1 PKD2
12 mesonephric tubule development GO:0072164 9.26 PKD1 PKD2
13 mesonephric duct development GO:0072177 9.16 PKD1 PKD2
14 metanephric ascending thin limb development GO:0072218 8.96 PKD1 PKD2
15 detection of mechanical stimulus GO:0050982 8.8 PKD1 PKD2 PKDREJ

Molecular functions related to Polycystic Kidney Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.8 PKD1 PKD2 PKDREJ

Sources for Polycystic Kidney Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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