MCID: PLY171
MIFTS: 33

Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease

Categories: Genetic diseases, Nephrological diseases, Liver 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
Polycystic Kidney Disease 3 57 12 75 29 6 15
Polycystic Kidney Disease, Adult, Type Iii 57 12 75
Apkd3 57 12 75
Pkd3 57 12 75
Polycystic Kidney Disease 3 Without Polycystic Liver Disease 6
Polycystic Kidney Disease, Adult, Type Iii; Apkd3 57
Polycystic Kidney Disease 3, Autosomal Dominant 73
Polycystic Kidney Disease, Type 3 76

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in mid- to late-adulthood
highly variable severity
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:

OMIM 57 600666
Disease Ontology 12 DOID:0110860
MeSH 44 D007690
UMLS 73 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 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). 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 : 75 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 : 76 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...

Symptoms via clinical synopsis from OMIM:

57
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 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

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

26
# 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 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...

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:

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 GANAB NM_198335.3(GANAB): c.1914_1915delAG (p.Asp640Glnfs) deletion Pathogenic rs879255641 GRCh38 Chromosome 11, 62629281: 62629282
2 GANAB NM_198335.3(GANAB): c.1914_1915delAG (p.Asp640Glnfs) deletion Pathogenic rs879255641 GRCh37 Chromosome 11, 62396753: 62396754
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.1214C> G (p.Thr405Arg) single nucleotide variant Pathogenic rs879255642 GRCh37 Chromosome 11, 62398504: 62398504

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...

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 9.62 GANAB HDAC5 PKD1 PRKD1
2 cilium GO:0005929 9.33 ANKS6 PKD1 PKD2
3 ciliary membrane GO:0060170 9.26 PKD1 PKD2
4 cell projection GO:0042995 9.26 ANKS6 PKD1 PKD2 SSH1
5 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 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 mesonephric tubule development GO:0072164 9.32 PKD1 PKD2
12 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 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 with or Without Polycystic Liver Disease 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 with or Without Polycystic Liver...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....