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 58 76
Polycystic Kidney Disease 3 58 12 30 6 15
Polycystic Kidney Disease, Adult, Type Iii 58 12 76
Apkd3 58 12 76
Pkd3 58 12 76
Polycystic Kidney Disease 3 Without Polycystic Liver Disease 6
Polycystic Kidney Disease, Adult, Type Iii; Apkd3 58
Polycystic Kidney Disease 3, Autosomal Dominant 74
Polycystic Kidney Disease, Type 3 77

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
polycystic kidney disease 3 with or without polycystic liver disease:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110860
OMIM 58 600666
MeSH 45 D007690
UMLS 74 C3887964

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

OMIM : 58 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, 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 : 76 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 : 77 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...

Diseases in the Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease family:

Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease

Diseases related to Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 with or without polycystic liver disease 32.0 PKD1 PKD2 PRKD1
2 polycystic kidney disease 31.4 ANKS6 GANAB PKD1 PKD2 PRKD1
3 autosomal dominant polycystic kidney disease 29.7 GANAB PKD1 PKD2 PRKD1
4 cone-rod dystrophy and hearing loss 2 11.1
5 prostate cancer 10.3
6 prostate cancer, hereditary, 8 10.3
7 prostate cancer, hereditary, 6 10.3
8 lymphatic malformations 10.1 PKD1 PKD2
9 breast cancer 10.1
10 hepatocellular carcinoma 10.1
11 multicystic dysplastic kidney 10.1 PKD1 PKD2
12 polycystic liver disease 10.1 GANAB PKD1 PKD2
13 liver disease 10.1 GANAB PKD1 PKD2
14 polycystic kidney disease 1 with or without polycystic liver disease 10.0 PKD1 PKD2 PRKD1
15 autosomal genetic disease 10.0 PKD1 PKD2 PRKD1
16 urinary system disease 10.0 PKD1 PKD2 PRKD1
17 kidney disease 10.0
18 bardet-biedl syndrome 17 9.9 PKD1 PKD2
19 cystic kidney disease 9.8 ANKS6 PKD1 PKD2 PRKD1
20 nephronophthisis 9.7 ANKS6 PKD1 PKD2
21 polycystic kidney disease 2 with or without polycystic liver disease 9.6 ANKS6 GANAB PKD1 PKD2 PRKD1

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:

33
# Description HPO Frequency HPO Source Accession
1 hypertension 33 occasional (7.5%) HP:0000822
2 decreased liver function 33 occasional (7.5%) HP:0001410
3 polycystic kidney dysplasia 33 HP:0000113
4 hepatic cysts 33 HP:0001407
5 dilatation of the cerebral artery 33 HP:0004944

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30 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:

42
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:

# Title Authors Year
1
Mutations in GANAB, Encoding the Glucosidase II╬▒ Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. ( 27259053 )
2016
2
Long-term follow-up of a family with autosomal dominant polycystic kidney disease type 3. ( 10193811 )
1999

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

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

76
# 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 with or Without Polycystic Liver Disease:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1 NM_000296.3(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199476100 GRCh37 Chromosome 16, 2164490: 2164490
2 PKD1 NM_000296.3(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199476100 GRCh38 Chromosome 16, 2114489: 2114489
3 GANAB NM_198335.3(GANAB): c.1914_1915delAG (p.Asp640Glnfs) deletion Pathogenic rs879255641 GRCh38 Chromosome 11, 62629281: 62629282
4 GANAB NM_198335.3(GANAB): c.1914_1915delAG (p.Asp640Glnfs) deletion Pathogenic rs879255641 GRCh37 Chromosome 11, 62396753: 62396754
5 GANAB NM_198335.3(GANAB): c.1214C> G (p.Thr405Arg) single nucleotide variant Pathogenic rs879255642 GRCh38 Chromosome 11, 62631032: 62631032
6 GANAB NM_198335.3(GANAB): c.1214C> G (p.Thr405Arg) single nucleotide variant Pathogenic rs879255642 GRCh37 Chromosome 11, 62398504: 62398504
7 PKD1 NM_000296.3(PKD1): c.2180T> C (p.Leu727Pro) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 16, 2164844: 2164844
8 PKD1 NM_000296.3(PKD1): c.2180T> C (p.Leu727Pro) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 16, 2114843: 2114843
9 PKD1 NM_001009944.2: c.7111delG deletion Pathogenic GRCh38 Chromosome 16, 2106903: 2106903
10 PKD1 NM_001009944.2: c.7111delG deletion Pathogenic GRCh37 Chromosome 16, 2156904: 2156904
11 PKD1 NM_001009944.2(PKD1): c.5693dup (p.Val1899Glyfs) duplication Likely pathogenic GRCh37 Chromosome 16, 2159474: 2159475
12 PKD1 NM_001009944.2(PKD1): c.5693dup (p.Val1899Glyfs) duplication Likely pathogenic GRCh38 Chromosome 16, 2109474: 2109474
13 PKD1 NM_001009944.2(PKD1): c.6916-9G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 2108041: 2108041
14 PKD1 NM_001009944.2(PKD1): c.6916-9G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 2158042: 2158042

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 59)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 GNB1 GNB2 GNB4 GNB5 HDAC5 PRKD1
2
Show member pathways
13.16 GNB1 GNB2 GNB4 GNB5 PRKD1
3
Show member pathways
13.1 GNB1 GNB2 GNB4 GNB5 PRKD1
4
Show member pathways
12.99 GNB1 GNB2 GNB4 GNB5 PRKD1
5
Show member pathways
12.99 GNB1 GNB2 GNB4 GNB5 HDAC5 PRKD1
6
Show member pathways
12.98 GNB1 GNB2 GNB4 GNB5 PRKD1
7
Show member pathways
12.96 GNB1 GNB2 GNB4 GNB5 PRKD1
8
Show member pathways
12.96 GNB1 GNB2 GNB4 GNB5 HDAC5 PRKD1
9
Show member pathways
12.94 GNB1 GNB2 GNB4 GNB5 GRIP1
10
Show member pathways
12.91 GNB1 GNB2 GNB4 GNB5 HDAC5
11
Show member pathways
12.88 GNB1 GNB2 GNB4 GNB5 HDAC5
12
Show member pathways
12.88 GNB1 GNB2 GNB4 GNB5 HDAC5 PRKD1
13
Show member pathways
12.86 GNB1 GNB2 GNB4 GNB5
14
Show member pathways
12.81 GNB1 GNB2 GNB4 GNB5 PRKD1
15
Show member pathways
12.79 GNB1 GNB2 GNB4 GNB5 HDAC5 PRKD1
16
Show member pathways
12.78 GNB1 GNB2 GNB4 GNB5
17
Show member pathways
12.78 GNB1 GNB2 GNB4 GNB5
18 12.73 GNB1 GNB2 GNB4 GNB5
19
Show member pathways
12.73 GNB1 GNB2 GNB4 GNB5 PRKD1
20
Show member pathways
12.66 GNB1 GNB2 GNB4 GNB5 PRKD1
21
Show member pathways
12.62 GNB1 GNB2 GNB4 GNB5 HDAC5 PRKD1
22
Show member pathways
12.56 GNB1 GNB2 GNB4 GNB5
23
Show member pathways
12.56 GNB1 GNB2 GNB4 GNB5 PRKD1
24
Show member pathways
12.54 GNB1 GNB2 GNB4 GNB5
25
Show member pathways
12.51 GNB1 GNB2 GNB4 GNB5
26
Show member pathways
12.51 GNB1 GNB2 GNB4 GNB5
27
Show member pathways
12.41 GNB1 GNB2 GNB4 GNB5 PRKD1
28
Show member pathways
12.39 GNB1 GNB2 GNB4 GNB5
29
Show member pathways
12.37 GNB1 GNB2 GNB4 GNB5
30
Show member pathways
12.37 GNB1 GNB2 GNB4 GNB5 PRKD1
31
Show member pathways
12.35 GNB1 GNB2 GNB4 GNB5
32
Show member pathways
12.34 GNB1 GNB2 GNB4 GNB5
33
Show member pathways
12.31 GNB1 GNB2 GNB4 GNB5
34
Show member pathways
12.3 GNB1 GNB2 GNB4 GNB5
35
Show member pathways
12.3 GNB1 GNB2 GNB4 GNB5 PRKD1
36
Show member pathways
12.28 GNB1 GNB2 GNB4 GNB5
37
Show member pathways
12.27 GNB1 GNB2 GNB4 GNB5
38 12.23 GNB1 GNB2 GNB4 GNB5 PRKD1
39
Show member pathways
12.21 GNB1 GNB2 GNB4 GNB5
40
Show member pathways
12.15 GNB1 GNB2 GNB4 GNB5 PRKD1
41
Show member pathways
12.15 GNB1 GNB2 GNB4 GNB5
42 12.13 GNB1 GNB2 GNB4 GNB5
43
Show member pathways
12.1 GNB1 GNB2 GNB4 GNB5
44 12.08 GNB1 GNB2 GNB4 GNB5 PRKD1
45
Show member pathways
12.07 GNB1 GNB2 GNB4 GNB5
46 12.03 GNB1 GNB2 GNB4 GNB5
47
Show member pathways
11.98 GNB1 GNB2 GNB4 GNB5 PRKD1
48
Show member pathways
11.91 GNB1 GNB2 GNB4 GNB5
49
Show member pathways
11.86 GNB1 GNB2 GNB4 GNB5 PRKD1
50 11.86 GNB1 GNB2 GNB4 GNB5

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 GANAB GNB1 GNB2 GNB4 PKD1 PKD2
2 polycystin complex GO:0002133 8.62 PKD1 PKD2

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 GNB1 PKD1 PKD2
2 neural tube development GO:0021915 9.51 PKD1 PKD2
3 spinal cord development GO:0021510 9.49 PKD1 PKD2
4 JAK-STAT cascade GO:0007259 9.48 PKD1 PKD2
5 embryonic placenta development GO:0001892 9.46 PKD1 PKD2
6 detection of mechanical stimulus GO:0050982 9.4 PKD1 PKD2
7 placenta blood vessel development GO:0060674 9.37 PKD1 PKD2
8 cytoplasmic sequestering of transcription factor GO:0042994 9.32 PKD1 PKD2
9 mesonephric tubule development GO:0072164 9.26 PKD1 PKD2
10 mesonephric duct development GO:0072177 9.16 PKD1 PKD2
11 metanephric ascending thin limb development GO:0072218 8.96 PKD1 PKD2
12 protein folding GO:0006457 8.92 GNB1 GNB2 GNB4 GNB5

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 ANKS6 GANAB GNB1 GNB2 GNB5 GRIP1
2 GTPase binding GO:0051020 8.62 GNB1 GNB2

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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