PKD2
MCID: PLY172
MIFTS: 54

Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease (PKD2)

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

Aliases & Classifications for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

MalaCards integrated aliases for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

Name: Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 57 75
Polycystic Kidney Disease 2 57 12 29 13 6 15
Pkd2 57 12 75
Polycystic Kidney Disease, Adult, Type Ii 57 12
Polycystic Kidney Disease, Type 2 76 73
Apkd2 57 12
Polycystic Kidney Type 2 Autosomal Dominant Disease 55
Polycystic Kidney Disease, Adult, Type Ii; Apkd2 57
Autosomal Dominant Polycystic Kidney Disease 2 75
Polycystic Kidney Disease Adult Type Ii 75
Adult Polycystic Kidney Disease Type 2 75
Kidney Disease, Polycystic, Type 2 40
Adpkd2 75
Pkd-2 75

Characteristics:

OMIM:

57
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:

32
polycystic kidney disease 2 with or without polycystic liver disease:
Onset and clinical course incomplete penetrance progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

UniProtKB/Swiss-Prot : 75 Polycystic kidney disease 2 with or without polycystic liver disease: An autosomal dominant 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 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 2, is related to autosomal dominant polycystic kidney disease and lymphatic malformations. An important gene associated with Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel), and among its related pathways/superpathways are UVA-Induced MAPK Signaling and Ca, cAMP and Lipid Signaling. The drugs Tolvaptan and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are hypertension and polycystic kidney dysplasia

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 : 76 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 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 2 with or Without Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant polycystic kidney disease 31.9 GANAB HNF1B PKD1 PKD2 PKD2L1 PKD2L2
2 lymphatic malformations 31.9 PKD1 PKD2
3 polycystic liver disease 31.7 GANAB PKD1 PKD2 PKHD1 PRKCSH SEC63
4 multicystic dysplastic kidney 31.6 PKD1 PKD2
5 liver disease 31.5 GANAB PKD1 PKD2 PKHD1 PRKCSH SEC63
6 polycystic liver disease 1 with or without kidney cysts 31.5 HNF1B PKD1 PKD2 PKHD1 PRKCSH SEC63
7 autosomal genetic disease 31.4 PKD1 PKD2 PRKD1 TRPV1
8 urinary system disease 31.4 PKD1 PKD2 PRKD1 TRPV1
9 polycystic kidney disease 3 with or without polycystic liver disease 31.4 ANKS6 GANAB PKD1 PKD2 PRKD1
10 kidney disease 31.3 GANAB HNF1B IFT88 PKD1 PKD1L1 PKD2
11 nephronophthisis 31.3 ANKS6 NEK9 PKD1 PKD2 PKHD1
12 polycystic kidney disease 4 with or without polycystic liver disease 31.3 HNF1B IFT88 PKD1 PKD2 PKHD1 PRKCSH
13 polycystic kidney disease 1 with or without polycystic liver disease 31.0 HNF1B IFT88 PKD1 PKD2 PKD2L1 PKHD1
14 polycystic kidney disease 30.5 ANKS6 GANAB HNF1B IFT88 PKD1 PKD1L1
15 cystic kidney disease 29.9 ANKS6 HNF1B IFT88 NEK9 PKD1 PKD2
16 chronic kidney failure 11.2
17 bardet-biedl syndrome 17 11.1
18 hydrocele 11.1
19 hypertension, essential 10.9
20 gastric cancer 10.1
21 caroli disease 10.1 PKD1 PKHD1
22 congenital hepatic fibrosis 10.0 PKD1 PKHD1
23 breast cancer 10.0
24 prostate cancer 10.0
25 pancreatic cancer 10.0
26 dental caries 10.0
27 ischemia 10.0
28 situs inversus 10.0
29 cerebral aneurysms 10.0
30 nephronophthisis 9 9.9 ANKS6 NEK9 PKHD1

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:



Diseases related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Symptoms via clinical synopsis from OMIM:

57
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 with or Without Polycystic Liver Disease:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 occasional (7.5%) HP:0000822
2 polycystic kidney dysplasia 32 HP:0000113
3 hepatic cysts 32 occasional (7.5%) HP:0001407
4 elevated serum creatinine 32 HP:0003259
5 recurrent urinary tract infections 32 HP:0000010
6 midface retrusion 32 occasional (7.5%) HP:0011800
7 facial asymmetry 32 occasional (7.5%) HP:0000324
8 situs inversus totalis 32 occasional (7.5%) HP:0001696
9 stage 5 chronic kidney disease 32 HP:0003774

GenomeRNAi Phenotypes related to Polycystic Kidney Disease 2 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 9.55 NEK9 PKD1 PKD2 PRKD1 PRKD3
2 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.35 NEK9 PKD2L1 PKD2L2 PRKD1 PRKD3
3 Increased cell migration GR00055-A-3 8.92 PKD1 PKD2 PRKD2 PRKD3

MGI Mouse Phenotypes related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.81 ANKS6 HNF1B IFT88 PKD1 PKD2 PKHD1
2 mortality/aging MP:0010768 9.7 ANKS6 HNF1B IFT88 NEK9 PKD1 PKD1L1
3 renal/urinary system MP:0005367 9.28 HNF1B IFT88 PKD1 PKD1L1 PKD2 PKHD1

Drugs & Therapeutics for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Drugs for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4 150683-30-0 216237
2 Vasopressins Phase 4
3 Arginine Vasopressin Phase 4
4 Hormones Phase 4
5 Natriuretic Agents Phase 4
6
Everolimus Approved Phase 2 159351-69-6 6442177
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
10
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
12 Antibiotics, Antitubercular Phase 2
13 Antifungal Agents Phase 2
14 Immunosuppressive Agents Phase 2
15 Antihypertensive Agents Phase 2
16 Anti-Infective Agents Phase 2
17 Anti-Bacterial Agents Phase 2
18 Immunologic Factors Phase 2
19 Vitamin B Complex Phase 2
20 Vitamin B9 Phase 2
21 Vitamins Phase 2
22 Antimetabolites Phase 2
23 Vitamin B3 Phase 2
24 Folate Phase 2
25 Lipid Regulating Agents Phase 2
26 Micronutrients Phase 2
27 Trace Elements Phase 2
28 Nicotinic Acids Phase 2
29 Hypolipidemic Agents Phase 2
30 Vasodilator Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
2 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
3 Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) Active, not recruiting NCT02558595 Phase 2
4 Clinical Implications of DNA Analysis on ADPKD Completed NCT02322385
5 Water as Therapy in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00759369 Not Applicable
6 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD Recruiting NCT02112136 Not Applicable
7 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179 Not Applicable
8 Evaluation of Iliac and Renal Artery for Mechanism of Intracranial Aneurysm in ADPKD Not yet recruiting NCT03726463
9 Repository Study of Autosomal Dominant Polycystic Kidney Disease Withdrawn NCT01988038

Search NIH Clinical Center for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease

Genetic Tests for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Genetic tests related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 2 29 PKD2

Anatomical Context for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

MalaCards organs/tissues related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

41
Kidney, Liver, Lung

Publications for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Articles related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

(show all 23)
# Title Authors Year
1
Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. ( 29899465 )
2018
2
MicroRNA-106b-5p regulates cisplatin chemosensitivity by targeting polycystic kidney disease-2 in non-small-cell lung cancer. ( 28723865 )
2017
3
Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system. ( 26692149 )
2016
4
A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study. ( 26501044 )
2015
5
A single polycystic kidney disease 2-like 1 channel opening acts as a spike generator in cerebrospinal fluid-contacting neurons of adult mouse brainstem. ( 26220314 )
2015
6
Characterization of the polycystic kidney disease 2 gene promoter. ( 25173570 )
2014
7
Construction of a transgenic pig model overexpressing polycystic kidney disease 2 (PKD2) gene. ( 23315160 )
2013
8
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). ( 23390131 )
2013
9
Activation of polycystic kidney disease-2-like 1 (PKD2L1)-PKD1L3 complex by acid in mouse taste cells. ( 20406802 )
2010
10
MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation. ( 19821056 )
2010
11
[Polymorphisms of four microsatellite markers tightly linked with polycystic kidney disease 2 gene in Chinese]. ( 11836683 )
2002
12
Mutations of the human polycystic kidney disease 2 (PKD2) gene. ( 11438989 )
2001
13
The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism. ( 10602992 )
2000
14
A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. ( 10727541 )
2000
15
Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene. ( 10369752 )
1999
16
Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. ( 10213643 )
1999
17
Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. ( 9748274 )
1998
18
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. ( 9573526 )
1998
19
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. ( 9773786 )
1998
20
Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). ( 9286709 )
1997
21
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). ( 9175744 )
1997
22
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. ( 9402976 )
1997
23
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 with or Without Polycystic Liver...

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease:

75
# 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 with or Without Polycystic Liver Disease:

6 (show all 38)
# 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.1139G> A (p.Trp380Ter) single nucleotide variant Pathogenic rs121918039 GRCh38 Chromosome 4, 88043277: 88043277
3 PKD2 NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs121918040 GRCh37 Chromosome 4, 88986631: 88986631
4 PKD2 NM_000297.3(PKD2): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs121918040 GRCh38 Chromosome 4, 88065479: 88065479
5 PKD2 NM_000297.3(PKD2): c.1213C> T (p.Gln405Ter) single nucleotide variant Pathogenic rs121918041 GRCh37 Chromosome 4, 88964503: 88964503
6 PKD2 NM_000297.3(PKD2): c.1213C> T (p.Gln405Ter) single nucleotide variant Pathogenic rs121918041 GRCh38 Chromosome 4, 88043351: 88043351
7 PKD2 NM_000297.3: c.693dupC duplication Pathogenic
8 PKD2 NM_000297.3(PKD2): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs121918042 GRCh37 Chromosome 4, 88967864: 88967864
9 PKD2 NM_000297.3(PKD2): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs121918042 GRCh38 Chromosome 4, 88046712: 88046712
10 PKD2 NM_000297.3: c.2159dupA duplication Pathogenic
11 PKD2 PKD2, 1-BP INS, 197_203C insertion Pathogenic
12 PKD2 NM_000297.3(PKD2): c.1532A> T (p.Asp511Val) single nucleotide variant Pathogenic rs121918043 GRCh37 Chromosome 4, 88968006: 88968006
13 PKD2 NM_000297.3(PKD2): c.1532A> T (p.Asp511Val) single nucleotide variant Pathogenic rs121918043 GRCh38 Chromosome 4, 88046854: 88046854
14 PKD2 NM_000297.3(PKD2): c.1934_1935delACinsT (p.Asn645Ilefs) indel Pathogenic GRCh38 Chromosome 4, 88058018: 88058019
15 PKD2 NM_000297.3(PKD2): c.1934_1935delACinsT (p.Asn645Ilefs) indel Pathogenic GRCh37 Chromosome 4, 88979170: 88979171
16 PKD2 NC_000004.11: g.88957372-?_89042944+?dup duplication Pathogenic GRCh37 Chromosome 4, 88957372: 88957372
17 PKD2 NM_000297.3(PKD2): c.305_306insGAG (p.Glu102_Val103insArg) insertion Pathogenic rs398122932 GRCh37 Chromosome 4, 88929190: 88929191
18 PKD2 NM_000297.3(PKD2): c.305_306insGAG (p.Glu102_Val103insArg) insertion Pathogenic rs398122932 GRCh38 Chromosome 4, 88008038: 88008039
19 PKD2 NM_000297.3(PKD2): c.1320G> A (p.Arg440=) single nucleotide variant Uncertain significance rs886041114 GRCh38 Chromosome 4, 88046642: 88046642
20 PKD2 NM_000297.3(PKD2): c.1320G> A (p.Arg440=) single nucleotide variant Uncertain significance rs886041114 GRCh37 Chromosome 4, 88967794: 88967794
21 PKD2 NM_000297.3(PKD2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic rs200001068 GRCh37 Chromosome 4, 88959475: 88959475
22 PKD2 NM_000297.3(PKD2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic rs200001068 GRCh38 Chromosome 4, 88038323: 88038323
23 PKD2 NM_000297.3(PKD2): c.691dupC (p.Leu231Profs) duplication Likely pathogenic GRCh38 Chromosome 4, 88019553: 88019553
24 PKD2 NM_000297.3(PKD2): c.691dupC (p.Leu231Profs) duplication Likely pathogenic GRCh37 Chromosome 4, 88940705: 88940705
25 PKD2 NM_000297.3(PKD2): c.2534G> C (p.Arg845Pro) single nucleotide variant Uncertain significance rs755031837 GRCh37 Chromosome 4, 88995975: 88995975
26 PKD2 NM_000297.3(PKD2): c.2534G> C (p.Arg845Pro) single nucleotide variant Uncertain significance rs755031837 GRCh38 Chromosome 4, 88074823: 88074823
27 PKD2 NM_000297.3(PKD2): c.1319+1G> A single nucleotide variant Pathogenic rs1131692280 GRCh37 Chromosome 4, 88964610: 88964610
28 PKD2 NM_000297.3(PKD2): c.1319+1G> A single nucleotide variant Pathogenic rs1131692280 GRCh38 Chromosome 4, 88043458: 88043458
29 PKD2 NM_000297.3(PKD2): c.1458C> G (p.Tyr486Ter) single nucleotide variant Pathogenic rs1135401753 GRCh37 Chromosome 4, 88967932: 88967932
30 PKD2 NM_000297.3(PKD2): c.1458C> G (p.Tyr486Ter) single nucleotide variant Pathogenic rs1135401753 GRCh38 Chromosome 4, 88046780: 88046780
31 PKD2 NM_000297.3(PKD2): c.2524delC (p.Leu842Trpfs) deletion Pathogenic GRCh38 Chromosome 4, 88074813: 88074813
32 PKD2 NM_000297.3(PKD2): c.2524delC (p.Leu842Trpfs) deletion Pathogenic GRCh37 Chromosome 4, 88995965: 88995965
33 PKD2 NM_000297.3(PKD2): c.986delG (p.Gly329Aspfs) deletion Pathogenic GRCh37 Chromosome 4, 88959545: 88959545
34 PKD2 NM_000297.3(PKD2): c.986delG (p.Gly329Aspfs) deletion Pathogenic GRCh38 Chromosome 4, 88038393: 88038393
35 PKD2 NM_000297.3(PKD2): c.1088delG (p.Gly363Glufs) deletion Pathogenic GRCh38 Chromosome 4, 88038495: 88038495
36 PKD2 NM_000297.3(PKD2): c.1088delG (p.Gly363Glufs) deletion Pathogenic GRCh37 Chromosome 4, 88959647: 88959647
37 PKD2 NM_000297.3(PKD2): c.1492C> T (p.His498Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 88046814: 88046814
38 PKD2 NM_000297.3(PKD2): c.1492C> T (p.His498Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 88967966: 88967966

Expression for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Search GEO for disease gene expression data for Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease.

Pathways for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Pathways related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 PRKD1 PRKD2 PRKD3
2 11.44 PRKD1 PRKD2 PRKD3
3 10.67 PRKD1 PRKD2 PRKD3
4 10.55 PRKD1 PRKD2 PRKD3

GO Terms for Polycystic Kidney Disease 2 with or Without Polycystic Liver...

Cellular components related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.86 ANKS6 IFT88 PKD1 PKD1L1 PKD2 PKD2L1
2 motile cilium GO:0031514 9.61 IFT88 PKD1 PKD2
3 ciliary basal body GO:0036064 9.58 IFT88 PKD2 PKHD1
4 calcium channel complex GO:0034704 9.46 PKD1L1 PKD2L1
5 ciliary membrane GO:0060170 9.46 PKD1 PKD1L1 PKD2 PKD2L1
6 glucosidase II complex GO:0017177 9.37 GANAB PRKCSH
7 polycystin complex GO:0002133 9.32 PKD1 PKD2
8 non-motile cilium GO:0097730 9.26 IFT88 PKD1L1 PKD2 PKD2L1
9 cilium GO:0005929 9.17 ANKS6 IFT88 PKD1 PKD1L1 PKD2 PKD2L1

Biological processes related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.85 PKD1 PKD1L1 PKD2 PKD2L1 TRPV1
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.81 PKD1 PKD2 TRPV1
3 cell-cell adhesion GO:0098609 9.8 PKD1 PKD1L1 PKHD1
4 peptidyl-serine phosphorylation GO:0018105 9.8 PKD1 PRKD1 PRKD2
5 kidney development GO:0001822 9.8 HNF1B IFT88 PKD1 PKD2 PKHD1
6 sphingolipid biosynthetic process GO:0030148 9.72 PRKD1 PRKD2 PRKD3
7 liver development GO:0001889 9.72 HNF1B PKD1 PKD2 PRKCSH SEC63
8 nitrogen compound metabolic process GO:0006807 9.65 PKD1 PRKCSH SEC63
9 JAK-STAT cascade GO:0007259 9.64 PKD1 PKD2
10 branching morphogenesis of an epithelial tube GO:0048754 9.63 HNF1B PKD1
11 embryonic placenta development GO:0001892 9.62 PKD1 PKD2
12 positive regulation of CREB transcription factor activity GO:0032793 9.61 PRKD1 PRKD2
13 N-glycan processing GO:0006491 9.61 GANAB PRKCSH
14 mesonephric tubule development GO:0072164 9.61 HNF1B PKD1 PKD2
15 placenta blood vessel development GO:0060674 9.6 PKD1 PKD2
16 cytoplasmic sequestering of transcription factor GO:0042994 9.59 PKD1 PKD2
17 positive regulation of endothelial cell chemotaxis GO:2001028 9.58 PRKD1 PRKD2
18 cellular response to acidic pH GO:0071468 9.58 PKD2L1 TRPV1
19 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.57 PKD1 PKD2
20 positive regulation of histone deacetylase activity GO:1901727 9.56 PRKD1 PRKD2
21 renal system development GO:0072001 9.56 PKD1 PKD2 PRKCSH SEC63
22 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.54 PRKD1 PRKD2
23 mesonephric duct development GO:0072177 9.54 HNF1B PKD1 PKD2
24 metanephric ascending thin limb development GO:0072218 9.51 PKD1 PKD2
25 calcium ion transmembrane transport GO:0070588 9.5 PKD1 PKD1L1 PKD2 PKD2L1 PKD2L2 PKDREJ
26 detection of nodal flow GO:0003127 9.49 PKD1L1 PKD2
27 protein kinase D signaling GO:0089700 9.33 PRKD1 PRKD2 PRKD3
28 detection of mechanical stimulus GO:0050982 9.1 PKD1 PKD1L1 PKD2 PKD2L1 PKD2L2 PKDREJ
29 ion transport GO:0006811 10 PKD1L1 PKD2 PKD2L1 PKD2L2 PKDREJ TRPV1

Molecular functions related to Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 PKD2 PKD2L1 PKD2L2 PKDREJ PRKCSH
2 ion channel binding GO:0044325 9.61 PKD1 PKD2 PRKCSH
3 cation channel activity GO:0005261 9.48 PKD2L1 TRPV1
4 alpha-actinin binding GO:0051393 9.4 PKD2 PKD2L1
5 phosphoprotein binding GO:0051219 9.33 PKD2 PRKCSH TRPV1
6 cation transmembrane transporter activity GO:0008324 9.32 PKD2L1 TRPV1
7 muscle alpha-actinin binding GO:0051371 9.26 PKD2 PKD2L1
8 calcium channel activity GO:0005262 9.17 PKD1 PKD1L1 PKD2 PKD2L1 PKD2L2 PKDREJ
9 protein kinase C activity GO:0004697 9.13 PRKD1 PRKD2 PRKD3
10 protein binding GO:0005515 10.24 ANKS6 GANAB HNF1B IFT88 NEK9 PKD1

Sources for Polycystic Kidney Disease 2 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
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50 NCIt
51 NDF-RT
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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
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