MCID: PLY060
MIFTS: 49

Polycystic Kidney Disease 2

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

Aliases & Classifications for Polycystic Kidney Disease 2

MalaCards integrated aliases for Polycystic Kidney Disease 2:

Name: Polycystic Kidney Disease 2 53 12 71 28 13 14
Pkd2 53 12 71
Polycystic Kidney Disease, Adult, Type Ii 53 12
Polycystic Kidney Disease, Type 2 72 69
Apkd2 53 12
Polycystic Kidney Type 2 Autosomal Dominant Disease 51
Polycystic Kidney Disease, Adult, Type Ii; Apkd2 53
Autosomal Dominant Polycystic Kidney Disease 2 71
Polycystic Kidney Disease Adult Type Ii 71
Adult Polycystic Kidney Disease Type 2 71
Adpkd2 71
Pkd-2 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
incomplete penetrance
patients usually present as adults
mean age of onset of end-stage renal disease is 70 years (later than in pkd1)
one family with perinatal onset resulting in perinatal death has been reported


HPO:

31
polycystic kidney disease 2:
Onset and clinical course incomplete penetrance progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Polycystic Kidney Disease 2

UniProtKB/Swiss-Prot : 71 Polycystic kidney disease 2: 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 occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy.

MalaCards based summary : Polycystic Kidney Disease 2, also known as pkd2, is related to kidney disease and polycystic kidney disease, and has symptoms including hypertension, renal insufficiency and polycystic kidney dysplasia. An important gene associated with Polycystic Kidney Disease 2 is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel). The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are liver/biliary system and renal/urinary system

Disease Ontology : 12 A autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.

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

Description from OMIM: 613095

Related Diseases for Polycystic Kidney Disease 2

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 1 Polycystic Kidney Disease 3
Polycystic Kidney Disease 2 Polycystic Kidney Disease 5
Autosomal Dominant Polycystic Kidney Disease

Diseases related to Polycystic Kidney Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 kidney disease 28.8 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1 PKD2L2
2 polycystic kidney disease 28.6 HAX1 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1
3 polycystic liver disease 1 28.5 PKD1 PKD2 PKHD1 PRKCSH SEC63
4 autosomal dominant polycystic kidney disease 28.2 HAX1 PDK2 PKD1 PKD2 PKD2L1 PKD2L2
5 polycystic liver disease 28.1 PKD1 PKD2 PKDREJ PKHD1 PRKCSH SEC63
6 polycystic kidney disease 1 27.7 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1 PKHD1
7 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.4 PKD1 PKD2
8 lymphatic malformations 10.3 PKD1 PKD2
9 visceral heterotaxy 10.0 PKD1L1 PKD2 PKDREJ
10 caroli disease 10.0 PKD1 PKHD1
11 ascending cholangitis 10.0 PKDREJ PRKD1
12 polycystic kidney disease 5 9.9 PKD1 PKD2 PKHD1
13 congenital hepatic fibrosis 9.9 PKD1 PKHD1
14 cystic kidney disease 9.9 PKD1 PKD2 PKHD1
15 polycystic kidney disease 3 9.9 PKD1 PKD2 PKDREJ PRKD1
16 liver disease 9.8
17 nephronophthisis 9.6 PKD1 PKD2 PKHD1
18 autosomal genetic disease 9.1 PKD1 PKD2 PKDREJ PKHD1 PRKCSH PRKD1
19 polycystic kidney disease 4 with or without hepatic disease 8.7 PKD1 PKD2 PKDREJ PKHD1 PRKCSH PRKD1

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 2:



Diseases related to Polycystic Kidney Disease 2

Symptoms & Phenotypes for Polycystic Kidney Disease 2

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Kidneys:
renal insufficiency
polycystic kidneys
end-stage renal disease
enlarged kidneys
urinary tract infections

Cardiovascular Vascular:
hypertension (in some patients)

Abdomen:
situs inversus (in some patients)
laterality defects (in some patients)

Cardiovascular Heart:
dextrocardia (in some patients)

Laboratory Abnormalities:
increased serum creatinine

Head And Neck Face:
midface hypoplasia (in some patients)
facial asymmetry (in some patients)
craniofacial defects, subtle (in some patients)
compressed temporomandibular joints (in some patients)

Head And Neck Teeth:
abnormal tooth position (in some patients)

Abdomen Liver:
hepatic cysts (in some patients)


Clinical features from OMIM:

613095

Human phenotypes related to Polycystic Kidney Disease 2:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 occasional (7.5%) HP:0000822
2 renal insufficiency 31 HP:0000083
3 polycystic kidney dysplasia 31 HP:0000113
4 hepatic cysts 31 occasional (7.5%) HP:0001407
5 elevated serum creatinine 31 HP:0003259
6 recurrent urinary tract infections 31 HP:0000010
7 midface retrusion 31 occasional (7.5%) HP:0011800
8 facial asymmetry 31 occasional (7.5%) HP:0000324
9 situs inversus totalis 31 occasional (7.5%) HP:0001696
10 stage 5 chronic kidney disease 31 HP:0003774

MGI Mouse Phenotypes related to Polycystic Kidney Disease 2:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 PKD1 PKD2 PKHD1 PRKCSH SEC63 TRPV1
2 renal/urinary system MP:0005367 9.17 PKD1 PKD1L1 PKD2 PKHD1 PRKCSH SEC63

Drugs & Therapeutics for Polycystic Kidney Disease 2

Drugs for Polycystic Kidney Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
6
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
7 Anti-Bacterial Agents Phase 2
8 Antibiotics, Antitubercular Phase 2
9 Antifungal Agents Phase 2
10 Antihypertensive Agents Phase 2
11 Anti-Infective Agents Phase 2
12 Immunosuppressive Agents Phase 2
13 Antimetabolites Phase 2
14 Hypolipidemic Agents Phase 2
15 Lipid Regulating Agents Phase 2
16 Micronutrients Phase 2
17 Nicotinic Acids Phase 2
18 Trace Elements Phase 2
19 Vasodilator Agents Phase 2
20 Vitamin B Complex Phase 2
21 Vitamins Phase 2
22 Folate Nutraceutical Phase 2
23 Vitamin B3 Nutraceutical Phase 2
24 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
2 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Recruiting NCT02558595 Phase 2
3 Clinical Implications of DNA Analysis on ADPKD Completed NCT02322385
4 Water as Therapy in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00759369
5 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD Recruiting NCT02112136
6 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179
7 Repository Study of Autosomal Dominant Polycystic Kidney Disease Withdrawn NCT01988038

Search NIH Clinical Center for Polycystic Kidney Disease 2

Genetic Tests for Polycystic Kidney Disease 2

Genetic tests related to Polycystic Kidney Disease 2:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 2 28 PKD2

Anatomical Context for Polycystic Kidney Disease 2

MalaCards organs/tissues related to Polycystic Kidney Disease 2:

38
Kidney, Liver

Publications for Polycystic Kidney Disease 2

Articles related to Polycystic Kidney Disease 2:

(show all 13)
# Title Authors Year
1
Characterization of the polycystic kidney disease 2 gene promoter. ( 25173570 )
2014
2
Construction of a transgenic pig model overexpressing polycystic kidney disease 2 (PKD2) gene. ( 23315160 )
2013
3
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). ( 23390131 )
2013
4
[Polymorphisms of four microsatellite markers tightly linked with polycystic kidney disease 2 gene in Chinese]. ( 11836683 )
2002
5
Mutations of the human polycystic kidney disease 2 (PKD2) gene. ( 11438989 )
2001
6
A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. ( 10727541 )
2000
7
Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene. ( 10369752 )
1999
8
Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. ( 10213643 )
1999
9
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. ( 9573526 )
1998
10
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. ( 9402976 )
1997
11
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). ( 9175744 )
1997
12
Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). ( 9286709 )
1997
13
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. ( 8591848 )
1996

Variations for Polycystic Kidney Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 2:

71
# Symbol AA change Variation ID SNP ID
1 PKD2 p.Trp414Gly VAR_009195
2 PKD2 p.Ala356Pro VAR_011073
3 PKD2 p.Arg306Gln VAR_058822 rs990932947
4 PKD2 p.Arg322Gln VAR_058823 rs145877597
5 PKD2 p.Arg322Trp VAR_058824
6 PKD2 p.Arg420Gly VAR_058825
7 PKD2 p.Asp511Val VAR_058827 rs121918043
8 PKD2 p.Cys632Arg VAR_058828
9 PKD2 p.Arg807Gln VAR_058830 rs147654263
10 PKD2 p.Ala384Pro VAR_064394

ClinVar genetic disease variations for Polycystic Kidney Disease 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD2 NM_000297.3(PKD2): c.1139G> A (p.Trp380Ter) single nucleotide variant Pathogenic rs121918039 GRCh37 Chromosome 4, 88964429: 88964429
2 PKD2 NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs121918040 GRCh37 Chromosome 4, 88986631: 88986631
3 PKD2 NM_000297.3(PKD2): c.1213C> T (p.Gln405Ter) single nucleotide variant Pathogenic rs121918041 GRCh37 Chromosome 4, 88964503: 88964503
4 PKD2 PKD2, 1-BP INS, 693C insertion Pathogenic
5 PKD2 NM_000297.3(PKD2): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs121918042 GRCh37 Chromosome 4, 88967864: 88967864
6 PKD2 PKD2, 1-BP INS, 2160A insertion Pathogenic
7 PKD2 PKD2, 1-BP INS, 197_203C insertion Pathogenic
8 PKD2 NM_000297.3(PKD2): c.1532A> T (p.Asp511Val) single nucleotide variant Pathogenic rs121918043 GRCh37 Chromosome 4, 88968006: 88968006
9 PKD2 PKD2, 2-BP DEL/1-BP INS, NT1934 indel Pathogenic
10 PKD2 NC_000004.11: g.88957372-?_89042944+?dup duplication Pathogenic GRCh37 Chromosome 4, 88957372: 88957372
11 PKD2 NM_000297.3(PKD2): c.305_306insGAG (p.Glu102_Val103insArg) insertion Pathogenic rs398122932 GRCh37 Chromosome 4, 88929190: 88929191
12 PKD2 NM_000297.3(PKD2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic rs200001068 GRCh37 Chromosome 4, 88959475: 88959475
13 PKD2 NM_000297.3(PKD2): c.691dupC (p.Leu231Profs) duplication Likely pathogenic GRCh38 Chromosome 4, 88019553: 88019553
14 PKD2 NM_000297.3(PKD2): c.1319+1G> A single nucleotide variant Pathogenic rs1131692280 GRCh37 Chromosome 4, 88964610: 88964610
15 PKD2 NM_000297.3(PKD2): c.1458C> G (p.Tyr486Ter) single nucleotide variant Pathogenic rs1135401753 GRCh37 Chromosome 4, 88967932: 88967932
16 PKD2 NM_000297.3(PKD2): c.2524delC (p.Leu842Trpfs) deletion Pathogenic GRCh38 Chromosome 4, 88074813: 88074813

Expression for Polycystic Kidney Disease 2

Search GEO for disease gene expression data for Polycystic Kidney Disease 2.

Pathways for Polycystic Kidney Disease 2

GO Terms for Polycystic Kidney Disease 2

Cellular components related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 PKD1 PKD1L1 PKD2 PKD2L1 PKHD1 TRPV1
2 cilium GO:0005929 9.72 PKD1 PKD1L1 PKD2 PKD2L1 PKHD1
3 non-motile cilium GO:0097730 9.43 PKD1L1 PKD2 PKD2L1
4 calcium channel complex GO:0034704 9.4 PKD1L1 PKD2L1
5 polycystin complex GO:0002133 9.16 PKD1 PKD2
6 cation channel complex GO:0034703 8.96 PKD1L3 PKD2L1
7 ciliary membrane GO:0060170 8.92 PKD1 PKD1L1 PKD2 PKD2L1

Biological processes related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 PKD1L1 PKD1L3 PKD2 PKD2L1 PKD2L2 PKDREJ
2 peptidyl-serine phosphorylation GO:0018105 9.82 PKD1 PRKD1 PRKD2
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.81 PKD1 PKD2 TRPV1
4 cell-cell adhesion GO:0098609 9.8 PKD1 PKD1L1 PKHD1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.78 HAX1 PRKD1 PRKD2
6 kidney development GO:0001822 9.76 PKD1 PKD1L3 PKD2 PKHD1
7 liver development GO:0001889 9.73 PKD1 PKD2 PRKCSH SEC63
8 JAK-STAT cascade GO:0007259 9.65 PKD1 PKD2
9 cellular response to cytokine stimulus GO:0071345 9.65 HAX1 TRPV1
10 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.65 PRKD1 PRKD2
11 embryonic placenta development GO:0001892 9.64 PKD1 PKD2
12 calcium ion transport GO:0006816 9.63 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1 TRPV1
13 positive regulation of CREB transcription factor activity GO:0032793 9.62 PRKD1 PRKD2
14 placenta blood vessel development GO:0060674 9.62 PKD1 PKD2
15 cytoplasmic sequestering of transcription factor GO:0042994 9.61 PKD1 PKD2
16 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.59 PKD1 PKD2
17 mesonephric tubule development GO:0072164 9.58 PKD1 PKD2
18 positive regulation of endothelial cell chemotaxis GO:2001028 9.58 PRKD1 PRKD2
19 nitrogen compound metabolic process GO:0006807 9.58 PKD1 PRKCSH SEC63
20 positive regulation of histone deacetylase activity GO:1901727 9.57 PRKD1 PRKD2
21 mesonephric duct development GO:0072177 9.56 PKD1 PKD2
22 renal system development GO:0072001 9.56 PKD1 PKD2 PRKCSH SEC63
23 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1 PKD2L2
24 sensory perception of sour taste GO:0050915 9.55 PKD1L3 PKD2L1
25 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.54 PRKD1 PRKD2
26 metanephric ascending thin limb development GO:0072218 9.52 PKD1 PKD2
27 protein kinase D signaling GO:0089700 9.51 PRKD1 PRKD2
28 cellular response to acidic pH GO:0071468 9.5 PKD1L3 PKD2L1 TRPV1
29 detection of nodal flow GO:0003127 9.49 PKD1L1 PKD2
30 detection of chemical stimulus involved in sensory perception of sour taste GO:0001581 9.48 PKD1L3 PKD2L1
31 detection of mechanical stimulus GO:0050982 9.17 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1 PKD2L2
32 transport GO:0006810 10.2 PKD1L1 PKD1L3 PKD2 PKD2L1 PKD2L2 PKDREJ

Molecular functions related to Polycystic Kidney Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.88 PKD2 PKD2L1 PKD2L2 PKDREJ PRKCSH
2 ion channel binding GO:0044325 9.61 PKD1 PKD2 PRKCSH
3 phosphoprotein binding GO:0051219 9.5 PKD2 PRKCSH TRPV1
4 alpha-actinin binding GO:0051393 9.46 PKD2 PKD2L1
5 cation channel activity GO:0005261 9.43 PKD1L3 PKD2L1 TRPV1
6 muscle alpha-actinin binding GO:0051371 9.4 PKD2 PKD2L1
7 protein kinase C activity GO:0004697 9.37 PRKD1 PRKD2
8 calcium channel activity GO:0005262 9.23 PKD1 PKD1L1 PKD1L3 PKD2 PKD2L1 PKD2L2
9 sour taste receptor activity GO:0033040 9.16 PKD1L3 PKD2L1
10 cation transmembrane transporter activity GO:0008324 9.13 PKD1L3 PKD2L1 TRPV1

Sources for Polycystic Kidney Disease 2

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
Content
Loading form....