PKD3
MCID: PLY171
MIFTS: 42

Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease (PKD3)

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

Aliases & Classifications for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

MalaCards integrated aliases for Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

Name: Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 56 73
Polycystic Kidney Disease 3 56 12 29 6 15
Polycystic Kidney Disease, Adult, Type Iii 56 12 73
Apkd3 56 12 73
Pkd3 56 12 73
Polycystic Kidney Disease 3 Without Polycystic Liver Disease 6
Polycystic Kidney Disease, Adult, Type Iii; Apkd3 56
Polycystic Kidney Disease 3, Autosomal Dominant 71
Polycystic Kidney Disease, Type 3 74

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
polycystic kidney disease 3 with or without polycystic liver disease:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110860
OMIM 56 600666
OMIM Phenotypic Series 56 PS173900
MeSH 43 D007690
UMLS 71 C3887964

Summaries for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

OMIM : 56 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 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 3, is related to polycystic kidney disease and polycystic kidney disease 4 with or without polycystic liver disease. An important gene associated with Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease is GANAB (Glucosidase II Alpha Subunit), and among its related pathways/superpathways are fMLP Pathway and NFAT and Cardiac Hypertrophy. Affiliated tissues include kidney, liver and prostate, and related phenotypes are hypertension and decreased liver function

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 : 73 Polycystic kidney disease 3 with or without polycystic liver disease: 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 : 74 Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder... more...

Related Diseases for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:



Diseases related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Human phenotypes related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

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

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
renal cysts
renal dysfunction (in some patients)

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

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

Clinical features from OMIM:

600666

GenomeRNAi Phenotypes related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.2 PKD1 PRKD2
2 Decreased viability GR00106-A-0 10.2 RAD51
3 Decreased viability GR00107-A-1 10.2 PRKD2
4 Decreased viability GR00173-A 10.2 PRKD2
5 Decreased viability GR00221-A-1 10.2 PRKD2
6 Decreased viability GR00221-A-2 10.2 PAK4 PRKD3
7 Decreased viability GR00221-A-3 10.2 CERT1 PRKD3
8 Decreased viability GR00221-A-4 10.2 PRKD2
9 Decreased viability GR00240-S-1 10.2 ADCY10
10 Decreased viability GR00301-A 10.2 CERT1
11 Decreased viability GR00342-S-1 10.2 PRKD3
12 Decreased viability GR00381-A-1 10.2 PRDM10
13 Decreased viability GR00402-S-2 10.2 ADCY10 CERT1 GANAB HDAC5 HDAC7 HDAC9
14 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.63 CERT1 PAK4 PKD1 PPP1R8 PRKD1 PRKD3
15 no effect GR00402-S-1 9.62 ADCY10 CERT1 GANAB HDAC5 HDAC7 HDAC9

Drugs & Therapeutics for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Search Clinical Trials , NIH Clinical Center for Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease

Genetic Tests for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Genetic tests related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 3 29 GANAB

Anatomical Context for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

MalaCards organs/tissues related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

40
Kidney, Liver, Prostate

Publications for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Articles related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

(show all 11)
# Title Authors PMID Year
1
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. 56 6
27259053 2016
2
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. 56
29243290 2018
3
Polycystic Kidney Disease, Autosomal Dominant 6
20301424 2002
4
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease. 61
30792735 2019
5
Laparoscopic nephrectomy for benign and inflammatory conditions. 61
18042023 2007
6
Chronic renal disease in Kuwaiti nationals: a prospective study during the past 4 years. 61
15807190 2005
7
Knowledge of Home Dialysis Among Inner-City Satellite Hemodialysis Patients. 61
28455936 2002
8
Role and long-term results of laparoscopic decortication in solitary cystic and autosomal dominant polycystic kidney disease. 61
9474129 1998
9
Is post-dialysis urea rebound significant with long slow hemodialysis? 61
9736788 1998
10
Construction of Lambda Libraries from Large PFGE Fragments. 61
21409642 1992
11
[The enlarged kidney in infancy--echographic findings]. 61
3520949 1986

Variations for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

ClinVar genetic disease variations for Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GANAB NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)deletion Pathogenic 253129 rs879255641 11:62396753-62396754 11:62629281-62629282
2 GANAB NM_198334.3(GANAB):c.1148C>G (p.Thr383Arg)SNV Pathogenic 253130 rs879255642 11:62398504-62398504 11:62631032-62631032
3 PKD1 NM_001009944.3(PKD1):c.7111del (p.Val2371fs)deletion Pathogenic 620580 rs1567187420 16:2156904-2156904 16:2106903-2106903
4 PKD1 NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)SNV Pathogenic/Likely pathogenic 562302 rs1616940 16:2164844-2164844 16:2114843-2114843
5 PKD1 NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)SNV Pathogenic/Likely pathogenic 8206 rs199476100 16:2164490-2164490 16:2114489-2114489
6 PKD1 NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)duplication Likely pathogenic 623208 rs1567195868 16:2159474-2159475 16:2109473-2109474
7 PKD1 NM_001009944.3(PKD1):c.6916-9G>ASNV Likely pathogenic 623209 rs1567190244 16:2158042-2158042 16:2108041-2108041

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

73
# 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

Expression for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Search GEO for disease gene expression data for Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease.

Pathways for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Pathways related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 PRKD3 PRKD1 PAK4 HDAC9 HDAC7 HDAC5
2
Show member pathways
12.66 PRKD3 PRKD1 HDAC9 HDAC7 HDAC5
3
Show member pathways
12.52 RIN1 PRKD3 PRKD2 PRKD1 PAK4
4
Show member pathways
12.21 PRKD3 PRKD2 PRKD1 CERT1
5
Show member pathways
11.91 PRKD1 HDAC9 HDAC7 HDAC5
6 11.83 PRKD3 PRKD2 PRKD1
7 11.72 HDAC9 HDAC7 HDAC5
8 11.54 PRKD3 PRKD2 PRKD1
9 11.45 HDAC9 HDAC7 HDAC5
10
Show member pathways
11.32 HDAC9 HDAC7 HDAC5
11
Show member pathways
11.25 PRKD3 PRKD2 PRKD1 HDAC9 HDAC7 HDAC5
12
Show member pathways
11.18 RAD51 HDAC9 HDAC7 HDAC5
13 11.07 HDAC9 HDAC7 HDAC5
14 10.96 HDAC9 HDAC7 HDAC5
15 10.81 HDAC9 HDAC7 HDAC5

GO Terms for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

Cellular components related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.76 TGOLN2 PRKD2 PRKD1 PKD1 PAK4 HDAC5
2 cytoplasm GO:0005737 9.53 SSH1 RIN1 RAD51 PRKD3 PRKD2 PRKD1
3 histone deacetylase complex GO:0000118 9.13 HDAC9 HDAC7 HDAC5

Biological processes related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.8 PRKD3 PRKD2 PRKD1 PLEK ADCY10
2 positive regulation of CREB transcription factor activity GO:0032793 9.46 PRKD2 PRKD1
3 positive regulation of endothelial cell chemotaxis GO:2001028 9.43 PRKD2 PRKD1
4 histone deacetylation GO:0016575 9.43 HDAC9 HDAC7 HDAC5
5 positive regulation of histone deacetylase activity GO:1901727 9.37 PRKD2 PRKD1
6 histone H3 deacetylation GO:0070932 9.33 HDAC9 HDAC7 HDAC5
7 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.32 PRKD2 PRKD1
8 sphingolipid biosynthetic process GO:0030148 9.26 PRKD3 PRKD2 PRKD1 CERT1
9 protein kinase D signaling GO:0089700 8.8 PRKD3 PRKD2 PRKD1

Molecular functions related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 TGOLN2 SSH1 SPI1 RIN1 RAD51 PRKD3
2 kinase activity GO:0016301 9.83 PRKD3 PRKD2 PRKD1 PAK4 CERT1
3 repressing transcription factor binding GO:0070491 9.54 HDAC9 HDAC7 HDAC5
4 histone deacetylase activity GO:0004407 9.5 HDAC9 HDAC7 HDAC5
5 protein deacetylase activity GO:0033558 9.4 HDAC9 HDAC5
6 protein kinase C activity GO:0004697 9.33 PRKD3 PRKD2 PRKD1
7 NAD-dependent histone deacetylase activity (H3-K14 specific) GO:0032041 9.13 HDAC9 HDAC7 HDAC5
8 protein kinase C binding GO:0005080 9.02 PRKD2 PLEK HDAC9 HDAC7 HDAC5

Sources for Polycystic Kidney Disease 3 with or Without Polycystic Liver...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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