PKD3
MCID: PLY171
MIFTS: 41

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 57 74
Polycystic Kidney Disease 3 57 12 29 6 15
Polycystic Kidney Disease, Adult, Type Iii 57 12 74
Apkd3 57 12 74
Pkd3 57 12 74
Polycystic Kidney Disease 3 Without Polycystic Liver Disease 6
Polycystic Kidney Disease, Adult, Type Iii; Apkd3 57
Polycystic Kidney Disease 3, Autosomal Dominant 72
Polycystic Kidney Disease, Type 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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
MeSH 44 D007690
UMLS 72 C3887964

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

OMIM : 57 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 4 with or without polycystic liver disease and polycystic kidney 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 CREB Pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include kidney and liver, 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 : 74 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 : 75 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:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 occasional (7.5%) HP:0000822
2 decreased liver function 32 occasional (7.5%) HP:0001410
3 polycystic kidney dysplasia 32 HP:0000113
4 hepatic cysts 32 HP:0001407
5 dilatation of the cerebral artery 32 HP:0004944

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 ANKS6 GNB5 GRIP1 HDAC5 PKD1 PKD2

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:

41
Kidney, Liver

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 II╬▒ Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. 8 71
27259053 2016
2
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. 8
29243290 2018
3
Polycystic Kidney Disease, Autosomal Dominant 71
20301424 2002
4
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease. 38
30792735 2019
5
Laparoscopic nephrectomy for benign and inflammatory conditions. 38
18042023 2007
6
Chronic renal disease in Kuwaiti nationals: a prospective study during the past 4 years. 38
15807190 2005
7
Knowledge of Home Dialysis Among Inner-City Satellite Hemodialysis Patients. 38
28455936 2002
8
Role and long-term results of laparoscopic decortication in solitary cystic and autosomal dominant polycystic kidney disease. 38
9474129 1998
9
Is post-dialysis urea rebound significant with long slow hemodialysis? 38
9736788 1998
10
Construction of Lambda Libraries from Large PFGE Fragments. 38
21409642 1992
11
[The enlarged kidney in infancy--echographic findings]. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GANAB NM_198335.4(GANAB): c.1914_1915del (p.Asp640fs) deletion Pathogenic rs879255641 11:62396753-62396754 11:62629281-62629282
2 GANAB NM_198335.4(GANAB): c.1214C> G (p.Thr405Arg) single nucleotide variant Pathogenic rs879255642 11:62398504-62398504 11:62631032-62631032
3 PKD1 NM_001009944.3(PKD1): c.7111del (p.Val2371fs) deletion Pathogenic 16:2156904-2156904 16:2106903-2106903
4 PKD1 NM_001009944.3(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199476100 16:2164490-2164490 16:2114489-2114489
5 PKD1 NM_001009944.3(PKD1): c.5693dup (p.Val1899fs) duplication Likely pathogenic 16:2159474-2159475 16:2109474-2109474
6 PKD1 NM_001009944.3(PKD1): c.6916-9G> A single nucleotide variant Likely pathogenic 16:2158042-2158042 16:2108041-2108041
7 PKD1 NM_001009944.3(PKD1): c.2180T> C (p.Leu727Pro) single nucleotide variant Conflicting interpretations of pathogenicity 16:2164844-2164844 16:2114843-2114843

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

74
# 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 top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 PRKD1 HDAC5 GNB5 GNB4 GNB2 GNB1
2
Show member pathways
13.17 PRKD1 GNB5 GNB4 GNB2 GNB1
3
Show member pathways
13.1 PRKD1 GNB5 GNB4 GNB2 GNB1
4
Show member pathways
13 PRKD1 HDAC5 GNB5 GNB4 GNB2 GNB1
5
Show member pathways
12.99 PRKD1 GNB5 GNB4 GNB2 GNB1
6
Show member pathways
12.98 PRKD1 GNB5 GNB4 GNB2 GNB1
7
Show member pathways
12.97 PRKD1 HDAC5 GNB5 GNB4 GNB2 GNB1
8
Show member pathways
12.96 PRKD1 GNB5 GNB4 GNB2 GNB1
9
Show member pathways
12.94 GRIP1 GNB5 GNB4 GNB2 GNB1
10
Show member pathways
12.92 HDAC5 GNB5 GNB4 GNB2 GNB1
11
Show member pathways
12.89 HDAC5 GNB5 GNB4 GNB2 GNB1
12
Show member pathways
12.89 PRKD1 HDAC5 GNB5 GNB4 GNB2 GNB1
13
Show member pathways
12.86 GNB5 GNB4 GNB2 GNB1
14
Show member pathways
12.82 PRKD1 GNB5 GNB4 GNB2 GNB1
15
Show member pathways
12.8 PRKD1 HDAC5 GNB5 GNB4 GNB2 GNB1
16
Show member pathways
12.78 GNB5 GNB4 GNB2 GNB1
17
Show member pathways
12.78 GNB5 GNB4 GNB2 GNB1
18 12.74 GNB5 GNB4 GNB2 GNB1
19
Show member pathways
12.73 PRKD1 GNB5 GNB4 GNB2 GNB1
20
Show member pathways
12.67 PRKD1 GNB5 GNB4 GNB2 GNB1
21
Show member pathways
12.65 PRKD1 HDAC5 GNB5 GNB4 GNB2 GNB1
22
Show member pathways
12.57 GNB5 GNB4 GNB2 GNB1
23
Show member pathways
12.57 PRKD1 GNB5 GNB4 GNB2 GNB1
24
Show member pathways
12.54 GNB5 GNB4 GNB2 GNB1
25
Show member pathways
12.51 GNB5 GNB4 GNB2 GNB1
26
Show member pathways
12.51 GNB5 GNB4 GNB2 GNB1
27
Show member pathways
12.42 PRKD1 GNB5 GNB4 GNB2 GNB1
28
Show member pathways
12.39 GNB5 GNB4 GNB2 GNB1
29
Show member pathways
12.38 PRKD1 GNB5 GNB4 GNB2 GNB1
30
Show member pathways
12.37 GNB5 GNB4 GNB2 GNB1
31
Show member pathways
12.35 GNB5 GNB4 GNB2 GNB1
32
Show member pathways
12.34 GNB5 GNB4 GNB2 GNB1
33
Show member pathways
12.32 GNB5 GNB4 GNB2 GNB1
34
Show member pathways
12.32 PRKD1 GNB5 GNB4 GNB2 GNB1
35
Show member pathways
12.31 GNB5 GNB4 GNB2 GNB1
36
Show member pathways
12.29 GNB5 GNB4 GNB2 GNB1
37
Show member pathways
12.27 GNB5 GNB4 GNB2 GNB1
38 12.25 PRKD1 GNB5 GNB4 GNB2 GNB1
39
Show member pathways
12.21 GNB5 GNB4 GNB2 GNB1
40
Show member pathways
12.16 PRKD1 GNB5 GNB4 GNB2 GNB1
41
Show member pathways
12.16 GNB5 GNB4 GNB2 GNB1
42 12.14 GNB5 GNB4 GNB2 GNB1
43
Show member pathways
12.11 GNB5 GNB4 GNB2 GNB1
44
Show member pathways
12.08 GNB5 GNB4 GNB2 GNB1
45 12.08 PRKD1 GNB5 GNB4 GNB2 GNB1
46 12.04 GNB5 GNB4 GNB2 GNB1
47
Show member pathways
11.98 PRKD1 GNB5 GNB4 GNB2 GNB1
48
Show member pathways
11.92 GNB5 GNB4 GNB2 GNB1
49
Show member pathways
11.87 PRKD1 GNB5 GNB4 GNB2 GNB1
50 11.87 GNB5 GNB4 GNB2 GNB1

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 extracellular exosome GO:0070062 9.43 PKD2 PKD1 GNB4 GNB2 GNB1 GANAB
2 polycystin complex GO:0002133 8.62 PKD2 PKD1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 9.61 PKD2 PKD1 GNB1
2 neural tube development GO:0021915 9.51 PKD2 PKD1
3 spinal cord development GO:0021510 9.49 PKD2 PKD1
4 JAK-STAT cascade GO:0007259 9.48 PKD2 PKD1
5 embryonic placenta development GO:0001892 9.46 PKD2 PKD1
6 placenta blood vessel development GO:0060674 9.4 PKD2 PKD1
7 detection of mechanical stimulus GO:0050982 9.37 PKD2 PKD1
8 cytoplasmic sequestering of transcription factor GO:0042994 9.32 PKD2 PKD1
9 mesonephric tubule development GO:0072164 9.26 PKD2 PKD1
10 mesonephric duct development GO:0072177 9.16 PKD2 PKD1
11 metanephric ascending thin limb development GO:0072218 8.96 PKD2 PKD1
12 protein folding GO:0006457 8.92 GNB5 GNB4 GNB2 GNB1

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 9.7 SSH1 PRKD1 PKD2 PKD1 HDAC5 GRIP1
2 GTPase binding GO:0051020 8.62 GNB2 GNB1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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