PKD1
MCID: PLY168
MIFTS: 66

Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease (PKD1)

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

Aliases & Classifications for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

MalaCards integrated aliases for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

Name: Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 57 75
Polycystic Kidney Disease 1 57 12 15 73
Polycystic Kidney Disease, Adult Type 76 29 6
Adpkd 57 75 55
Pkd1 57 12 75
Potter Type Iii Polycystic Kidney Disease 75 73
Polycystic Kidney Disease, Adult, Type I 57 12
Polycystic Kidney, Autosomal Dominant 44 73
Apkd1 57 12
Polycystic Kidney, Type 1 Autosomal Dominant Disease 73
Potter Type Iii Polycystic Kidney Disease, Formerly 57
Polycystic Kidney Type 1 Autosomal Dominant Disease 55
Polycystic Kidney Disease, Adult, Type I; Apkd1 57
Kidney, Polycystic, Disease, Autosomal Dominant 40
Autosomal Dominant Polycystic Kidney Disease 1 75
Polycystic Kidney Disease, Adult; Adpkd 57
Polycystic Kidney Disease, Adult Type I 13
Adult Polycystic Kidney Disease Type 1 75
Kidney Disease, Polycystic, Type 1 40
Polycystic Kidney Disease, Type 1 76
Polycystic Kidney Disease, Adult 57
Polycystic Kidney Disease Type I 75
Polycystic Kidney Disease Adult 75
Polycystic Kidney Diseases 73
Polycystic Kidneys 75
Adpkd1 75
Pkd-1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
polycystic kidney disease 1 with or without polycystic liver disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

OMIM : 57 PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). (173900)

MalaCards based summary : Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 1, is related to polycystic kidney disease, infantile severe, with tuberous sclerosis and polycystic kidney disease 3 with or without polycystic liver disease. An important gene associated with Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are Angiopoietin Like Protein 8 Regulatory Pathway and AMP-activated Protein Kinase (AMPK) Signaling. The drugs Tolvaptan and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are hypertension and renal insufficiency

Disease Ontology : 12 A autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.

UniProtKB/Swiss-Prot : 75 Polycystic kidney disease 1 with or without polycystic liver disease: An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm.

Wikipedia : 76 Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal,... more...

Related Diseases for Polycystic Kidney Disease 1 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 1 with or Without Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 32.7 TSC2 PKD1
2 polycystic kidney disease 3 with or without polycystic liver disease 32.6 PRKD1 PKD2 PKD1
3 tuberous sclerosis 32.5 MTOR PKD1 TSC1 TSC2
4 congenital hepatic fibrosis 32.3 PKHD1 PKD1
5 kidney disease 32.1 PKHD1 PKD2L1 PKD2 PKD1 IFT88 HNF1B
6 liver disease 32.0 PRKCSH PKHD1 PKD2 PKD1
7 polycystic liver disease 1 with or without kidney cysts 31.9 TSC2 TSC1 PRKCSH PKHD1 PKD2 PKD1
8 caroli disease 31.9 PKHD1 PKD1
9 lymphatic malformations 31.9 PKD2 PKD1
10 polycystic kidney disease 2 with or without polycystic liver disease 31.8 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2 PKD1
11 polycystic liver disease 31.8 PRKCSH PKHD1 PKD2 PKD1 FBN1
12 tuberous sclerosis 2 31.8 TSC2 TSC1 PKD1 MTOR
13 multicystic dysplastic kidney 31.7 PKD2 PKD1
14 autosomal dominant polycystic kidney disease 31.5 TSC2 TSC1 PRKD1 PKHD1 PKD2L1 PKD2
15 autosomal genetic disease 31.5 TSC2 PRKD1 PKD2 PKD1 CFTR
16 polycystic kidney disease 4 with or without polycystic liver disease 31.3 TSC2 PRKD1 PRKCSH PKHD1 PKD2 PKD1
17 nephronophthisis 31.3 PKHD1 PKD2 PKD1 NPHP3
18 polycystic kidney disease 31.3 TSC2 PRKD1 PRKCSH PKHD1 PKD2L1 PKD2
19 urinary system disease 31.1 PRKD1 PKD2 PKD1 MTOR AQP2
20 tuberous sclerosis 1 30.4 MTOR TSC1 TSC2
21 cystic kidney disease 30.4 TSC2 TSC1 PRKD1 PRKCSH PKHD1 PKD2L1
22 renal cell carcinoma, nonpapillary 30.3 TSC2 TSC1 MTOR HNF1B
23 angiomyolipoma 30.2 TSC2 TSC1 MTOR
24 kidney angiomyolipoma 30.2 TSC2 TSC1 MTOR
25 lymphangioleiomyomatosis 29.7 TSC2 TSC1 MTOR
26 polycystic kidney disease 4 12.4
27 polycystic kidney, cataract, and congenital blindness 12.2
28 hajdu-cheney syndrome 12.1
29 gillessen-kaesbach-nishimura syndrome 11.9
30 diabetes mellitus, neonatal, with congenital hypothyroidism 11.7
31 acroosteolysis dominant type 11.5
32 orofaciodigital syndrome i 11.4
33 orofaciodigital syndrome 11.4
34 acrorenal-mandibular syndrome 11.3
35 medullary cystic kidney disease 1 11.3
36 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.2
37 nephronophthisis 1 11.1
38 chronic kidney failure 11.1
39 end stage renal failure 11.1
40 intracranial aneurysm 11.1
41 hypertension, essential 11.0
42 steatocystoma multiplex 11.0
43 bardet-biedl syndrome 17 11.0
44 intracranial berry aneurysm 11.0
45 acrofacial dysostosis 11.0
46 bardet-biedl syndrome 11.0
47 talipes equinovarus 11.0
48 acrorenal syndrome 11.0
49 hypertelorism, teebi type 11.0
50 campomelia, cumming type 11.0

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:



Diseases related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatic cysts

Cardiovascular Vascular:
intracranial aneurysm

Abdomen Gastrointestinal:
colon diverticula

Genitourinary Kidneys:
renal failure
polycystic kidney

Cardiovascular Heart:
increased prevalence of valvular disease


Clinical features from OMIM:

173900

Human phenotypes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 renal insufficiency 32 HP:0000083
3 mitral regurgitation 32 very rare (1%) HP:0001653
4 polycystic kidney dysplasia 32 HP:0000113
5 hepatic cysts 32 HP:0001407
6 mitral valve prolapse 32 very rare (1%) HP:0001634
7 colonic diverticula 32 HP:0002253
8 cerebral berry aneurysm 32 very rare (1%) HP:0007029

GenomeRNAi Phenotypes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.02 ENPP1 MTOR PKD1 PKD2 TSC1

MGI Mouse Phenotypes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 AQP2 CFTR EGF ENPP1 FBN1 HNF1B
2 cardiovascular system MP:0005385 10.33 ENPP1 FBN1 IFT88 MTOR NPHP3 PCSK2
3 homeostasis/metabolism MP:0005376 10.32 AQP2 CFTR ENPP1 FBN1 HNF1B IFT88
4 cellular MP:0005384 10.31 ENPP1 FBN1 IFT88 MTOR NPHP3 PCSK2
5 mortality/aging MP:0010768 10.3 AQP2 CFTR ENPP1 FBN1 HBA2 HNF1B
6 endocrine/exocrine gland MP:0005379 10.29 CFTR EGF FBN1 HNF1B IFT88 MTOR
7 behavior/neurological MP:0005386 10.26 AQP2 CFTR ENPP1 FBN1 IFT88 MTOR
8 embryo MP:0005380 10.18 FBN1 HNF1B IFT88 MTOR NPHP3 PKD1
9 immune system MP:0005387 10.16 CFTR EGF ENPP1 FBN1 HNF1B MTOR
10 liver/biliary system MP:0005370 10.1 CFTR ENPP1 HNF1B IFT88 PKD1 PKD2
11 integument MP:0010771 10.09 AQP2 EGF ENPP1 FBN1 IFT88 PCSK2
12 renal/urinary system MP:0005367 10 AQP2 ENPP1 FBN1 HNF1B IFT88 MTOR
13 nervous system MP:0003631 9.96 ENPP1 FBN1 IFT88 MTOR NPHP3 PKD1
14 muscle MP:0005369 9.87 ENPP1 FBN1 HNF1B MTOR PKD1 PRKD1
15 reproductive system MP:0005389 9.65 AQP2 CFTR EGF FBN1 HBA2 PCSK2
16 respiratory system MP:0005388 9.23 CFTR FBN1 IFT88 MTOR PKD1 PKD2

Drugs & Therapeutics for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Drugs for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4,Not Applicable 150683-30-0 216237
2 Vasopressins Phase 4,Not Applicable
3 Arginine Vasopressin Phase 4,Not Applicable
4 Hormones Phase 4,Not Applicable
5 Natriuretic Agents Phase 4,Not Applicable
6
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
7
Everolimus Approved Phase 2 159351-69-6 6442177
8
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
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 Micronutrients Phase 2
13 Vasodilator Agents Phase 2
14 Vitamin B9 Phase 2
15 Lipid Regulating Agents Phase 2
16 Vitamins Phase 2
17 Vitamin B3 Phase 2
18 Antimetabolites Phase 2
19 Vitamin B Complex Phase 2
20 Folate Phase 2
21 Nicotinic Acids Phase 2
22 Trace Elements Phase 2
23 Hypolipidemic Agents Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Antifungal Agents Phase 2
26 Immunosuppressive Agents Phase 2
27 Antihypertensive Agents Phase 2
28 Anti-Infective Agents Phase 2
29 Anti-Bacterial Agents Phase 2
30 Immunologic Factors Phase 2
31
Inulin Approved, Investigational, Nutraceutical Not Applicable 9005-80-5 24763
32 Liver Extracts Not Applicable

Interventional clinical trials:

(show all 11)
# 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 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
3 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
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 ADPKD Cohort Study Completed NCT02084849
7 Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD Recruiting NCT02112136 Not Applicable
8 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179 Not Applicable
9 Efficacy of Tolvaptan on ADPKD Patients Active, not recruiting NCT02729662 Not Applicable Tolvaptan
10 Evaluation of Iliac and Renal Artery for Mechanism of Intracranial Aneurysm in ADPKD Not yet recruiting NCT03726463
11 Repository Study of Autosomal Dominant Polycystic Kidney Disease Withdrawn NCT01988038

Search NIH Clinical Center for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease

Cochrane evidence based reviews: polycystic kidney, autosomal dominant

Genetic Tests for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Genetic tests related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease, Adult Type 29 PKD1

Anatomical Context for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

MalaCards organs/tissues related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

41
Kidney, Liver, Pancreas, Colon, T Cells, Lung, Heart

Publications for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Articles related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

(show top 50) (show all 61)
# Title Authors Year
1
Heterozygosity analysis of polycystic kidney disease 1 gene microsatellite markers for linkage analysis of autosomal dominant polycystic kidney disease type 1 in the Iranian population. ( 29026418 )
2017
2
A protein kinase A-independent pathway controlling aquaporin 2 trafficking as a possible cause for the syndrome of inappropriate antidiuresis associated with polycystic kidney disease 1 haploinsufficiency. ( 24700872 )
2014
3
Urinary N-acetyl-I^-D glucosaminidase as a surrogate marker for renal function in autosomal dominant polycystic kidney disease: 1 year prospective cohort study. ( 22935351 )
2012
4
Identification of porcine polycystic kidney disease 1 (PKD1) gene: molecular cloning, expression profile, and implication in disease model. ( 21945688 )
2011
5
Mechanisms of p53-mediated repression of the human polycystic kidney disease-1 promoter. ( 20388565 )
2010
6
MAP/ERK kinase kinase 1 (MEKK1) mediates transcriptional repression by interacting with polycystic kidney disease-1 (PKD1) promoter-bound p53 tumor suppressor protein. ( 20923779 )
2010
7
The polycystic kidney disease 1 (Pkd1) gene is required for the responses of osteochondroprogenitor cells to midpalatal suture expansion in mice. ( 19264154 )
2009
8
Deficiency of polycystic kidney disease-1 gene (PKD1) expression increases A(3) adenosine receptors in human renal cells: implications for cAMP-dependent signalling and proliferation of PKD1-mutated cystic cells. ( 19285554 )
2009
9
Retinoic acid-dependent activation of the polycystic kidney disease-1 (PKD1) promoter. ( 18922886 )
2008
10
Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. ( 17980165 )
2008
11
Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. ( 17525154 )
2007
12
The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family. ( 17629917 )
2007
13
Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model. ( 17656674 )
2007
14
Ets factors regulate the polycystic kidney disease-1 promoter. ( 16510125 )
2006
15
The polycystic kidney disease-1 gene is a target for p53-mediated transcriptional repression. ( 16931520 )
2006
16
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions. ( 15770226 )
2005
17
Large deletions in the polycystic kidney disease 1 (PKD1) gene. ( 14695542 )
2004
18
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. ( 12842373 )
2003
19
Transmembrane domain analysis of polycystin-1, the product of the polycystic kidney disease-1 (PKD1) gene: evidence for 11 membrane-spanning domains. ( 14596619 )
2003
20
The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1. ( 12500225 )
2003
21
Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. ( 12782129 )
2003
22
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. ( 11961010 )
2002
23
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. ( 11857740 )
2002
24
The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human. ( 11863367 )
2002
25
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. ( 12482949 )
2002
26
The polycystic kidney disease-1 promoter is a target of the beta-catenin/T-cell factor pathway. ( 12048202 )
2002
27
Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE. ( 11840199 )
2001
28
Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene. ( 11913782 )
2001
29
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations. ( 10923038 )
2000
30
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion. ( 11216660 )
2000
31
Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells. ( 11063733 )
2000
32
A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript. ( 10612835 )
2000
33
Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1). ( 10862097 )
2000
34
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes. ( 11058904 )
2000
35
Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2. ( 10063927 )
1999
36
Long RT-PCR Amplification of the entire coding sequence of the polycystic kidney disease 1 (PKD1) gene. ( 9894601 )
1999
37
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. ( 10647901 )
1999
38
The polycystic kidney disease 1 gene product modulates Wnt signaling. ( 9988738 )
1999
39
The polycystic kidney disease 1 gene product mediates protein kinase C alpha-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1. ( 9497315 )
1998
40
The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro. ( 9792824 )
1998
41
A length polymorphism in an intron of the canine polycystic kidney disease 1 gene. ( 9745674 )
1998
42
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. ( 9382094 )
1997
43
New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles. ( 9150733 )
1997
44
Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. ( 9285785 )
1997
45
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. ( 9199561 )
1997
46
Renal disease. II. The polycystic kidney disease 1 (PKD-1) gene: an important clue in the study of renal cyst formation. ( 9131510 )
1997
47
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1). ( 9025084 )
1996
48
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. ( 8554072 )
1996
49
Adult, fetal, and polycystic kidney expression of polycystin, the polycystic kidney disease-1 gene product. ( 8765322 )
1996
50
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. ( 8643665 )
1996

Variations for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

75 (show top 50) (show all 96)
# Symbol AA change Variation ID SNP ID
1 PKD1 p.Leu2763Val VAR_005535
2 PKD1 p.Ile2826Thr VAR_005538
3 PKD1 p.Val3008Leu VAR_005539
4 PKD1 p.Val3375Met VAR_005541 rs371283948
5 PKD1 p.Glu3632Asp VAR_005542
6 PKD1 p.Met3678Thr VAR_005543
7 PKD1 p.Gly4032Asp VAR_005545 rs142768096
8 PKD1 p.Arg324Leu VAR_010085 rs199476099
9 PKD1 p.Leu845Ser VAR_010086 rs199476100
10 PKD1 p.Leu2993Pro VAR_010089
11 PKD1 p.Gln3016Arg VAR_010090
12 PKD1 p.Arg4136Gly VAR_010096
13 PKD1 p.Arg4154Cys VAR_010097 rs115538130
14 PKD1 p.Gln4225Pro VAR_010099
15 PKD1 p.Arg4276Trp VAR_010100 rs114251396
16 PKD1 p.Leu13Gln VAR_011030
17 PKD1 p.Ser75Phe VAR_011031
18 PKD1 p.Trp139Cys VAR_011032
19 PKD1 p.Gly1166Ser VAR_011033 rs573566419
20 PKD1 p.Val1956Glu VAR_011034
21 PKD1 p.Tyr2336Asp VAR_011040
22 PKD1 p.Tyr2379Cys VAR_011041
23 PKD1 p.Arg2408Cys VAR_011042 rs538769374
24 PKD1 p.Ala2752Asp VAR_011049
25 PKD1 p.Val2768Met VAR_011052
26 PKD1 p.Glu2771Lys VAR_011053 rs105751889
27 PKD1 p.Leu2816Pro VAR_011056
28 PKD1 p.Gly2858Ser VAR_011057 rs755522953
29 PKD1 p.His2921Pro VAR_011060
30 PKD1 p.Phe3066Leu VAR_011063 rs9925969
31 PKD1 p.Arg3719Gln VAR_011067
32 PKD1 p.Arg3753Trp VAR_011068
33 PKD1 p.Asp3815Asn VAR_011069
34 PKD1 p.Leu3852Pro VAR_011070
35 PKD1 p.Trp967Arg VAR_012453
36 PKD1 p.Arg2392Pro VAR_012454
37 PKD1 p.Ser2423Phe VAR_012455
38 PKD1 p.Pro2471Leu VAR_012456
39 PKD1 p.His2638Arg VAR_012462 rs9936785
40 PKD1 p.Leu2696Arg VAR_012464 rs201238819
41 PKD1 p.Arg2985Gly VAR_012467 rs373952574
42 PKD1 p.Arg3039Cys VAR_012468 rs200522524
43 PKD1 p.Val3285Ile VAR_012469 rs201780393
44 PKD1 p.Gly3560Arg VAR_012471 rs79000340
45 PKD1 p.Arg3247His VAR_013838 rs140791671
46 PKD1 p.Thr3382Met VAR_013839 rs776463508
47 PKD1 p.Met1092Thr VAR_056697 rs2549677
48 PKD1 p.Gln164Arg VAR_058763
49 PKD1 p.Cys210Gly VAR_058764
50 PKD1 p.Gly381Cys VAR_058765

ClinVar genetic disease variations for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease:

6 (show top 50) (show all 254)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1 PKD1, IVSDS, G-C, +1 single nucleotide variant Pathogenic
2 PKD1 NM_001009944.2(PKD1): c.12124C> T (p.Gln4042Ter) single nucleotide variant Pathogenic rs199476094 GRCh37 Chromosome 16, 2140689: 2140689
3 PKD1 NM_001009944.2(PKD1): c.12124C> T (p.Gln4042Ter) single nucleotide variant Pathogenic rs199476094 GRCh38 Chromosome 16, 2090688: 2090688
4 PKD1 NM_001009944.2: c.11249_11263delGGCAGGTGCGGCTGC deletion Pathogenic
5 PKD1 NM_001009944.2(PKD1): c.12682C> T (p.Arg4228Ter) single nucleotide variant Pathogenic rs199476095 GRCh37 Chromosome 16, 2139958: 2139958
6 PKD1 NM_001009944.2(PKD1): c.12682C> T (p.Arg4228Ter) single nucleotide variant Pathogenic rs199476095 GRCh38 Chromosome 16, 2089957: 2089957
7 PKD1 NM_001009944.2(PKD1): c.11512C> T (p.Gln3838Ter) single nucleotide variant Pathogenic rs199476096 GRCh37 Chromosome 16, 2141807: 2141807
8 PKD1 NM_001009944.2(PKD1): c.11512C> T (p.Gln3838Ter) single nucleotide variant Pathogenic rs199476096 GRCh38 Chromosome 16, 2091806: 2091806
9 PKD1 NM_001009944.2(PKD1): c.12261T> A (p.Cys4087Ter) single nucleotide variant Pathogenic rs199476097 GRCh37 Chromosome 16, 2140469: 2140469
10 PKD1 NM_001009944.2(PKD1): c.12261T> A (p.Cys4087Ter) single nucleotide variant Pathogenic rs199476097 GRCh38 Chromosome 16, 2090468: 2090468
11 PKD1 NM_001009944.2(PKD1): c.11457C> A (p.Tyr3819Ter) single nucleotide variant Pathogenic rs199476098 GRCh37 Chromosome 16, 2141862: 2141862
12 PKD1 NM_001009944.2(PKD1): c.11457C> A (p.Tyr3819Ter) single nucleotide variant Pathogenic rs199476098 GRCh38 Chromosome 16, 2091861: 2091861
13 PKD1 NM_001009944.2(PKD1): c.12036G> A (p.Trp4012Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2140777: 2140777
14 PKD1 NM_001009944.2(PKD1): c.12036G> A (p.Trp4012Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2090776: 2090776
15 PKD1 NM_001009944.2(PKD1): c.6434_6461del (p.Arg2147Profs) deletion Pathogenic GRCh37 Chromosome 16, 2158707: 2158734
16 PKD1 NM_001009944.2(PKD1): c.6434_6461del (p.Arg2147Profs) deletion Pathogenic GRCh38 Chromosome 16, 2108706: 2108733
17 PKD1 NM_001009944.2(PKD1): c.3296-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2161873: 2161873
18 PKD1 NM_001009944.2(PKD1): c.3296-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2111872: 2111872
19 PKD1 NM_001009944.2(PKD1): c.971G> T (p.Arg324Leu) single nucleotide variant Pathogenic rs199476099 GRCh37 Chromosome 16, 2168022: 2168022
20 PKD1 NM_001009944.2(PKD1): c.971G> T (p.Arg324Leu) single nucleotide variant Pathogenic rs199476099 GRCh38 Chromosome 16, 2118021: 2118021
21 PKD1 NM_000296.3(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic rs199476100 GRCh37 Chromosome 16, 2164490: 2164490
22 PKD1 NM_000296.3(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic rs199476100 GRCh38 Chromosome 16, 2114489: 2114489
23 PKD1 NM_001009944.2(PKD1): c.5764C> T (p.Gln1922Ter) single nucleotide variant Pathogenic rs199476101 GRCh37 Chromosome 16, 2159404: 2159404
24 PKD1 NM_001009944.2(PKD1): c.5764C> T (p.Gln1922Ter) single nucleotide variant Pathogenic rs199476101 GRCh38 Chromosome 16, 2109403: 2109403
25 PKD1 PKD1, 2-BP DEL, 5224AG deletion Pathogenic
26 PKD1 NM_001009944.2(PKD1): c.12420G> A (p.Trp4140Ter) single nucleotide variant Pathogenic rs199476102 GRCh37 Chromosome 16, 2140310: 2140310
27 PKD1 NM_001009944.2(PKD1): c.12420G> A (p.Trp4140Ter) single nucleotide variant Pathogenic rs199476102 GRCh38 Chromosome 16, 2090309: 2090309
28 PKD1 PKD1, 3-BP DEL, EX20 AND 8-BP DEL, EX21 deletion Pathogenic
29 PKD1 NM_001009944.2(PKD1): c.3133G> C (p.Val1045Leu) single nucleotide variant not provided rs724159822 GRCh38 Chromosome 16, 2112816: 2112816
30 PKD1 NM_001009944.2(PKD1): c.3133G> C (p.Val1045Leu) single nucleotide variant not provided rs724159822 GRCh37 Chromosome 16, 2162817: 2162817
31 PKD1 NM_001009944.2(PKD1): c.11554delC (p.Leu3852Trpfs) deletion not provided rs724159823 GRCh38 Chromosome 16, 2091581: 2091581
32 PKD1 NM_001009944.2(PKD1): c.11554delC (p.Leu3852Trpfs) deletion not provided rs724159823 GRCh37 Chromosome 16, 2141582: 2141582
33 PKD1 NM_001009944.2(PKD1): c.1281_1283delGGC (p.Ala428del) deletion not provided rs724159824 GRCh37 Chromosome 16, 2167592: 2167594
34 PKD1 NM_001009944.2(PKD1): c.1281_1283delGGC (p.Ala428del) deletion not provided rs724159824 GRCh38 Chromosome 16, 2117591: 2117593
35 LRP5 NM_002335.3(LRP5): c.3468G> C (p.Gln1156His) single nucleotide variant not provided rs724159825 GRCh37 Chromosome 11, 68193486: 68193486
36 LRP5 NM_002335.3(LRP5): c.3468G> C (p.Gln1156His) single nucleotide variant not provided rs724159825 GRCh38 Chromosome 11, 68426018: 68426018
37 LRP5 NM_002335.3(LRP5): c.1680G> T (p.Trp560Cys) single nucleotide variant not provided rs377144001 GRCh37 Chromosome 11, 68171046: 68171046
38 LRP5 NM_002335.3(LRP5): c.1680G> T (p.Trp560Cys) single nucleotide variant not provided rs377144001 GRCh38 Chromosome 11, 68403578: 68403578
39 LRP5 NM_002335.3(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Uncertain significance rs61889560 GRCh37 Chromosome 11, 68191036: 68191036
40 LRP5 NM_002335.3(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Uncertain significance rs61889560 GRCh38 Chromosome 11, 68423568: 68423568
41 LRP5 NM_002335.3(LRP5): c.3403C> T (p.Arg1135Cys) single nucleotide variant Uncertain significance rs143396225 GRCh37 Chromosome 11, 68192736: 68192736
42 LRP5 NM_002335.3(LRP5): c.3403C> T (p.Arg1135Cys) single nucleotide variant Uncertain significance rs143396225 GRCh38 Chromosome 11, 68425268: 68425268
43 PKD1 NM_001009944.2(PKD1): c.8293C> T (p.Arg2765Cys) single nucleotide variant Uncertain significance rs144979397 GRCh38 Chromosome 16, 2103764: 2103764
44 PKD1 NM_001009944.2(PKD1): c.8293C> T (p.Arg2765Cys) single nucleotide variant Uncertain significance rs144979397 GRCh37 Chromosome 16, 2153765: 2153765
45 PKD1 NM_001009944.2(PKD1): c.9829C> T (p.Arg3277Cys) single nucleotide variant Pathogenic rs148812376 GRCh38 Chromosome 16, 2099955: 2099955
46 PKD1 NM_001009944.2(PKD1): c.9829C> T (p.Arg3277Cys) single nucleotide variant Pathogenic rs148812376 GRCh37 Chromosome 16, 2149956: 2149956
47 PKD1 NM_000296.3(PKD1): c.445delC (p.Gln149Serfs) deletion Pathogenic rs796052133 GRCh38 Chromosome 16, 2118760: 2118760
48 PKD1 NM_000296.3(PKD1): c.445delC (p.Gln149Serfs) deletion Pathogenic rs796052133 GRCh37 Chromosome 16, 2168761: 2168761
49 PKD1 NM_001009944.2(PKD1): c.9988_9989insA (p.Ser3330Lysfs) duplication not provided rs796053523 GRCh38 Chromosome 16, 2099706: 2099706
50 PKD1 NM_001009944.2(PKD1): c.9988_9989insA (p.Ser3330Lysfs) duplication not provided rs796053523 GRCh37 Chromosome 16, 2149707: 2149707

Expression for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Search GEO for disease gene expression data for Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease.

Pathways for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Pathways related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 ENPP1 MTOR TSC1 TSC2
2
Show member pathways
12.19 CFTR MTOR TSC1 TSC2
3
Show member pathways
12.12 EGF MTOR TSC1 TSC2
4
Show member pathways
11.86 CFTR MTOR TSC1 TSC2
5 11.82 MTOR TSC1 TSC2
6
Show member pathways
11.72 NPHP3 PKD1 PKD2
7 11.58 CFTR EGF HNF1B PCSK2
8 11.56 MTOR TSC1 TSC2
9 11.37 MTOR TSC1 TSC2
10 11.27 MTOR TSC1 TSC2
11 11.06 MTOR TSC1 TSC2
12 10.97 EGF MTOR TSC1 TSC2
13 10.78 MTOR TSC1
14 10.66 MTOR TSC1 TSC2

GO Terms for Polycystic Kidney Disease 1 with or Without Polycystic Liver...

Cellular components related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.73 CFTR EGF ENPP1 MTOR
2 basolateral plasma membrane GO:0016323 9.71 AQP2 ENPP1 PKD1 PKD2
3 ciliary basal body GO:0036064 9.65 IFT88 PKD2 PKHD1
4 cell projection GO:0042995 9.56 ENPP1 IFT88 NPHP3 PKD1 PKD2 PKD2L1
5 ciliary membrane GO:0060170 9.54 PKD1 PKD2 PKD2L1
6 non-motile cilium GO:0097730 9.5 IFT88 PKD2 PKD2L1
7 Golgi-associated vesicle membrane GO:0030660 9.46 CFTR PKD1
8 polycystin complex GO:0002133 9.26 PKD1 PKD2
9 TSC1-TSC2 complex GO:0033596 9.16 TSC1 TSC2
10 cilium GO:0005929 9.1 IFT88 NPHP3 PKD1 PKD2 PKD2L1 PKHD1

Biological processes related to Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.88 FBN1 PKD1 PKD2 TSC2
2 protein heterooligomerization GO:0051291 9.74 HBA2 PRKCSH TSC1
3 cellular response to cAMP GO:0071320 9.67 CFTR ENPP1 PKD2
4 negative regulation of insulin receptor signaling pathway GO:0046627 9.63 ENPP1 TSC1 TSC2
5 nitrogen compound metabolic process GO:0006807 9.62 PKD1 PRKCSH
6 negative regulation of macroautophagy GO:0016242 9.62 MTOR TSC1
7 liver development GO:0001889 9.62 HNF1B PKD1 PKD2 PRKCSH
8 kidney morphogenesis GO:0060993 9.61 HNF1B NPHP3
9 placenta blood vessel development GO:0060674 9.61 PKD1 PKD2
10 spinal cord development GO:0021510 9.61 MTOR PKD1 PKD2
11 anoikis GO:0043276 9.6 MTOR TSC2
12 cytoplasmic sequestering of transcription factor GO:0042994 9.59 PKD1 PKD2
13 negative regulation of cell size GO:0045792 9.58 MTOR TSC1
14 branching morphogenesis of an epithelial tube GO:0048754 9.58 EGF HNF1B PKD1
15 cellular response to acidic pH GO:0071468 9.56 ENPP1 PKD2L1
16 regulation of calcium ion import GO:0090279 9.55 EGF PKD2
17 determination of liver left/right asymmetry GO:0071910 9.54 NPHP3 PKD2
18 renal system development GO:0072001 9.54 PKD1 PKD2 PRKCSH
19 metanephric collecting duct development GO:0072205 9.52 AQP2 PKD1
20 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.51 PKD1 PKD2
21 metanephric ascending thin limb development GO:0072218 9.48 PKD1 PKD2
22 detection of mechanical stimulus GO:0050982 9.43 PKD1 PKD2 PKD2L1
23 mesonephric tubule development GO:0072164 9.33 HNF1B PKD1 PKD2
24 kidney development GO:0001822 9.23 FBN1 HNF1B IFT88 NPHP3 PKD1 PKD2
25 mesonephric duct development GO:0072177 9.13 HNF1B PKD1 PKD2

Molecular functions related to Polycystic Kidney Disease 1 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 9.73 EGF ENPP1 FBN1 PKD2 PKD2L1 PRKCSH
2 ion channel binding GO:0044325 9.61 PKD1 PKD2 PRKCSH
3 protein binding GO:0005515 9.6 AQP2 CFTR EGF ENPP1 FBN1 HBA2
4 calcium channel activity GO:0005262 9.5 PKD1 PKD2 PKD2L1
5 alpha-actinin binding GO:0051393 9.4 PKD2 PKD2L1
6 muscle alpha-actinin binding GO:0051371 9.37 PKD2 PKD2L1
7 protein-containing complex binding GO:0044877 9.35 CFTR FBN1 HNF1B MTOR PCSK2
8 phosphoprotein binding GO:0051219 9.33 MTOR PKD2 PRKCSH

Sources for Polycystic Kidney Disease 1 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
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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