MCID: PLY168
MIFTS: 62

Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease

Categories: Genetic diseases, Nephrological diseases, Liver 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
Polycystic Kidney Disease 1 57 12 75 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
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
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
Polycystic Kidney, Autosomal Dominant 73
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 lymphatic malformations. 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 PI3K-Akt signaling pathway and p70S6K Signaling. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are renal insufficiency and polycystic kidney dysplasia

UniProtKB/Swiss-Prot : 75 Polycystic kidney disease 1: A 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.

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.

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 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 79)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.4 PKD1 TSC2
2 lymphatic malformations 32.5 PKD1 PKD2
3 tuberous sclerosis 32.4 MTOR PKD1 TSC1 TSC2
4 caroli disease 32.4 PKD1 PKHD1
5 congenital hepatic fibrosis 32.1 PKD1 PKHD1 REN
6 cystic kidney disease 32.0 EGF PKD1 PKD2 PKHD1 TSC2
7 polycystic kidney disease 3 with or without polycystic liver disease 31.8 PKD1 PKD2 PKDREJ PRKD1
8 tuberous sclerosis 2 31.7 MTOR PKD1 TSC1 TSC2
9 multicystic dysplastic kidney 31.4 PKD1 PKD2 REN
10 polycystic liver disease 1 with or without kidney cysts 31.4 ENPP1 PKD1 PKD2 PKHD1 PRKCSH TSC1
11 polycystic kidney disease 2 with or without polycystic liver disease 31.0 PKD1 PKD2 PKDREJ PKHD1 PRKCSH PRKD1
12 polycystic kidney disease 31.0 ENPP1 PKD1 PKD2 PKDREJ PKHD1 TSC2
13 chronic kidney failure 30.8 ACE PKD1 PKD2 REN
14 trehalase deficiency 30.5 CFTR FBN1 PKD1 PKD2 TSC1 TSC2
15 hypertension, essential 30.4 ACE PKD1 PKD2 REN
16 polycystic liver disease 30.3 FBN1 PKD1 PKD2 PKDREJ PKHD1 PRKCSH
17 kidney disease 29.6 ACE AQP2 PKD1 PKD2 PKDREJ PKHD1
18 polycystic kidney disease 4 with or without polycystic liver disease 29.3 AQP2 EGF PKD1 PKD2 PKDREJ PKHD1
19 autosomal genetic disease 28.6 CFTR FBN1 PKD1 PKD2 PKDREJ PKHD1
20 autosomal dominant polycystic kidney disease 25.8 ACE AQP2 CFTR EGF MTOR MYC
21 aneurysm 11.4
22 intracranial aneurysm 11.3
23 end stage renal failure 11.0
24 steatocystoma multiplex 10.9
25 nephronophthisis 1 10.9
26 bardet-biedl syndrome 17 10.9
27 intracranial berry aneurysm 10.9
28 acrofacial dysostosis 10.9
29 nephronophthisis 10.9
30 bardet-biedl syndrome 10.9
31 renal dysplasia, cystic 10.7
32 subependymal glioma 10.5 MTOR TSC1 TSC2
33 kidney angiomyolipoma 10.5 MTOR TSC1 TSC2
34 benign ependymoma 10.5 MTOR TSC1 TSC2
35 kidney benign neoplasm 10.5 MTOR TSC1 TSC2
36 subependymal giant cell astrocytoma 10.4 MTOR TSC1 TSC2
37 focal cortical dysplasia, type ii 10.4 MTOR TSC1 TSC2
38 angiomyolipoma 10.4 MTOR TSC1 TSC2
39 adult hepatocellular carcinoma 10.4 EGF TSC1 TSC2
40 lymphangioleiomyomatosis 10.4 MTOR TSC1 TSC2
41 multilocular clear cell renal cell carcinoma 10.3 TSC1 TSC2
42 focal epilepsy 10.2 MTOR TSC1 TSC2
43 hepatic angiomyolipoma 10.2 MTOR MYC TSC2
44 pseudoxanthoma elasticum 10.1 CFTR ENPP1 FBN1
45 hyporeninemic hypoaldosteronism 10.1 ACE REN
46 renal artery obstruction 10.0 ACE REN
47 hypoaldosteronism 10.0 ACE REN
48 hypertensive encephalopathy 9.9 ACE REN
49 lymphocele 9.9 MTOR PKDREJ
50 gastric cancer 9.9

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
Cardiovascular Heart:
increased prevalence of valvular disease

Abdomen Liver:
hepatic cysts

Genitourinary Kidneys:
polycystic kidney
renal failure

Cardiovascular Vascular:
intracranial aneurysm

Abdomen Gastrointestinal:
colon diverticula


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 renal insufficiency 32 HP:0000083
2 polycystic kidney dysplasia 32 HP:0000113
3 hypertension 32 HP:0000822
4 hepatic cysts 32 HP:0001407
5 mitral valve prolapse 32 very rare (1%) HP:0001634
6 mitral regurgitation 32 very rare (1%) HP:0001653
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 TSC1 ENPP1 MTOR PKD1 PKD2

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

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 ACE ENPP1 FBN1 MTOR MYC PCSK2
2 growth/size/body region MP:0005378 10.37 ACE AQP2 CFTR EGF ENPP1 FBN1
3 homeostasis/metabolism MP:0005376 10.34 MTOR MYC PCSK2 PKD1 PKD2 PRKCSH
4 behavior/neurological MP:0005386 10.31 ACE AQP2 CFTR ENPP1 FBN1 MTOR
5 endocrine/exocrine gland MP:0005379 10.31 ACE CFTR EGF FBN1 MTOR MYC
6 mortality/aging MP:0010768 10.31 TSC1 TSC2 ACE AQP2 CFTR ENPP1
7 cellular MP:0005384 10.29 PCSK2 PKD1 PKD2 PKHD1 PRKCSH TSC1
8 hematopoietic system MP:0005397 10.25 ACE AQP2 CFTR FBN1 MTOR MYC
9 immune system MP:0005387 10.22 ACE CFTR EGF ENPP1 FBN1 MTOR
10 liver/biliary system MP:0005370 10.13 CFTR ENPP1 MYC PKD1 PKD2 PKHD1
11 integument MP:0010771 10.11 AQP2 EGF ENPP1 FBN1 MYC PCSK2
12 adipose tissue MP:0005375 10.05 ACE ENPP1 FBN1 MTOR MYC PKD1
13 muscle MP:0005369 9.97 ENPP1 FBN1 MTOR MYC PKD1 PRKD1
14 renal/urinary system MP:0005367 9.97 TSC1 TSC2 ACE AQP2 ENPP1 FBN1
15 normal MP:0002873 9.91 CFTR EGF MTOR MYC PKD1 PKD2
16 neoplasm MP:0002006 9.8 ACE MYC PCSK2 PKD1 TSC1 TSC2
17 reproductive system MP:0005389 9.77 ACE AQP2 CFTR EGF FBN1 MYC
18 respiratory system MP:0005388 9.17 TSC1 CFTR FBN1 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 31)
# 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 5284616 6436030 46835353
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 Antimetabolites Phase 2
8 Hypolipidemic Agents Phase 2
9 Lipid Regulating Agents Phase 2
10 Micronutrients Phase 2
11 Nicotinic Acids Phase 2
12 Trace Elements Phase 2
13 Vasodilator Agents Phase 2
14 Vitamin B Complex Phase 2
15 Vitamins Phase 2
16 Anti-Bacterial Agents Phase 2
17 Antibiotics, Antitubercular Phase 2
18 Antifungal Agents Phase 2
19 Antihypertensive Agents Phase 2
20 Anti-Infective Agents Phase 2
21 Immunosuppressive Agents Phase 2
22 Folate Nutraceutical Phase 2
23 Vitamin B3 Nutraceutical Phase 2
24 Vitamin B9 Nutraceutical Phase 2
25
Tolvaptan Approved Not Applicable 150683-30-0 216237
26
Inulin Approved, Investigational, Nutraceutical Not Applicable 9005-80-5 24763
27 Arginine Vasopressin Not Applicable
28 Hormones Not Applicable
29 Liver Extracts Not Applicable
30 Natriuretic Agents Not Applicable
31 Vasopressins Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
2 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
3 Clinical Implications of DNA Analysis on ADPKD Completed NCT02322385
4 Water as Therapy in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00759369 Not Applicable
5 ADPKD Cohort Study Completed NCT02084849
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 Efficacy of Tolvaptan on ADPKD Patients Active, not recruiting NCT02729662 Not Applicable Tolvaptan
9 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

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

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 all 35)
# 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
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. ( 24939912 )
2014
4
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
5
Identification of porcine polycystic kidney disease 1 (PKD1) gene: molecular cloning, expression profile, and implication in disease model. ( 21945688 )
2011
6
The polycystic kidney disease 1 (Pkd1) gene is required for the responses of osteochondroprogenitor cells to midpalatal suture expansion in mice. ( 19264154 )
2009
7
Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. ( 17525154 )
2007
8
Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model. ( 17656674 )
2007
9
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions. ( 15770226 )
2005
10
Large deletions in the polycystic kidney disease 1 (PKD1) gene. ( 14695542 )
2004
11
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. ( 12842373 )
2003
12
The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1. ( 12500225 )
2003
13
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. ( 11961010 )
2002
14
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. ( 11857740 )
2002
15
Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE. ( 11840199 )
2001
16
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
17
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion. ( 11216660 )
2000
18
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes. ( 11058904 )
2000
19
Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2. ( 10063927 )
1999
20
Long RT-PCR Amplification of the entire coding sequence of the polycystic kidney disease 1 (PKD1) gene. ( 9894601 )
1999
21
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. ( 10647901 )
1999
22
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
23
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. ( 9382094 )
1997
24
New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles. ( 9150733 )
1997
25
Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. ( 9285785 )
1997
26
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. ( 9199561 )
1997
27
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1). ( 9025084 )
1996
28
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. ( 8554072 )
1996
29
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. ( 8643665 )
1996
30
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. ( 8591848 )
1996
31
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. ( 7663510 )
1995
32
Polycystic kidney disease. 1: Identification and analysis of the primary defect. ( 8589278 )
1995
33
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. ( 8004675 )
1994
34
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. ( 8069919 )
1994
35
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. ( 1683919 )
1991

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 rs1057518897Polycystic
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 243)
# 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 PKD1, 15-BP DEL 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 PKD1, 12036G-A single nucleotide variant Pathogenic
14 PKD1 PKD1, 28-BP DEL, NT6434 deletion Pathogenic
15 PKD1 PKD1, IVS14AS, G-A, -1 single nucleotide variant Pathogenic
16 PKD1 NM_001009944.2(PKD1): c.971G> T (p.Arg324Leu) single nucleotide variant Pathogenic rs199476099 GRCh37 Chromosome 16, 2168022: 2168022
17 PKD1 NM_001009944.2(PKD1): c.971G> T (p.Arg324Leu) single nucleotide variant Pathogenic rs199476099 GRCh38 Chromosome 16, 2118021: 2118021
18 PKD1 NM_001009944.2(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic rs199476100 GRCh37 Chromosome 16, 2164490: 2164490
19 PKD1 NM_001009944.2(PKD1): c.2534T> C (p.Leu845Ser) single nucleotide variant Pathogenic rs199476100 GRCh38 Chromosome 16, 2114489: 2114489
20 PKD1 NM_001009944.2(PKD1): c.5764C> T (p.Gln1922Ter) single nucleotide variant Pathogenic rs199476101 GRCh37 Chromosome 16, 2159404: 2159404
21 PKD1 NM_001009944.2(PKD1): c.5764C> T (p.Gln1922Ter) single nucleotide variant Pathogenic rs199476101 GRCh38 Chromosome 16, 2109403: 2109403
22 PKD1 PKD1, 2-BP DEL, 5224AG deletion Pathogenic
23 PKD1 NM_001009944.2(PKD1): c.12420G> A (p.Trp4140Ter) single nucleotide variant Pathogenic rs199476102 GRCh37 Chromosome 16, 2140310: 2140310
24 PKD1 NM_001009944.2(PKD1): c.12420G> A (p.Trp4140Ter) single nucleotide variant Pathogenic rs199476102 GRCh38 Chromosome 16, 2090309: 2090309
25 PKD1 PKD1, 3-BP DEL, EX20 AND 8-BP DEL, EX21 deletion Pathogenic
26 PKD1 NM_001009944.2(PKD1): c.3133G> C (p.Val1045Leu) single nucleotide variant not provided rs724159822 GRCh38 Chromosome 16, 2112816: 2112816
27 PKD1 NM_001009944.2(PKD1): c.3133G> C (p.Val1045Leu) single nucleotide variant not provided rs724159822 GRCh37 Chromosome 16, 2162817: 2162817
28 PKD1 NM_001009944.2(PKD1): c.11554delC (p.Leu3852Trpfs) deletion not provided rs724159823 GRCh38 Chromosome 16, 2091581: 2091581
29 PKD1 NM_001009944.2(PKD1): c.11554delC (p.Leu3852Trpfs) deletion not provided rs724159823 GRCh37 Chromosome 16, 2141582: 2141582
30 PKD1 NM_001009944.2(PKD1): c.1281_1283delGGC (p.Ala428del) deletion not provided rs724159824 GRCh37 Chromosome 16, 2167592: 2167594
31 PKD1 NM_001009944.2(PKD1): c.1281_1283delGGC (p.Ala428del) deletion not provided rs724159824 GRCh38 Chromosome 16, 2117591: 2117593
32 LRP5 NM_002335.3(LRP5): c.3468G> C (p.Gln1156His) single nucleotide variant not provided rs724159825 GRCh37 Chromosome 11, 68193486: 68193486
33 LRP5 NM_002335.3(LRP5): c.3468G> C (p.Gln1156His) single nucleotide variant not provided rs724159825 GRCh38 Chromosome 11, 68426018: 68426018
34 LRP5 NM_002335.3(LRP5): c.1680G> T (p.Trp560Cys) single nucleotide variant not provided rs377144001 GRCh37 Chromosome 11, 68171046: 68171046
35 LRP5 NM_002335.3(LRP5): c.1680G> T (p.Trp560Cys) single nucleotide variant not provided rs377144001 GRCh38 Chromosome 11, 68403578: 68403578
36 LRP5 NM_002335.3(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Uncertain significance rs61889560 GRCh37 Chromosome 11, 68191036: 68191036
37 LRP5 NM_002335.3(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Uncertain significance rs61889560 GRCh38 Chromosome 11, 68423568: 68423568
38 LRP5 NM_002335.3(LRP5): c.3403C> T (p.Arg1135Cys) single nucleotide variant Uncertain significance rs143396225 GRCh37 Chromosome 11, 68192736: 68192736
39 LRP5 NM_002335.3(LRP5): c.3403C> T (p.Arg1135Cys) single nucleotide variant Uncertain significance rs143396225 GRCh38 Chromosome 11, 68425268: 68425268
40 PKD1 NM_001009944.2(PKD1): c.8293C> T (p.Arg2765Cys) single nucleotide variant Uncertain significance rs144979397 GRCh38 Chromosome 16, 2103764: 2103764
41 PKD1 NM_001009944.2(PKD1): c.8293C> T (p.Arg2765Cys) single nucleotide variant Uncertain significance rs144979397 GRCh37 Chromosome 16, 2153765: 2153765
42 PKD1 NM_001009944.2(PKD1): c.9829C> T (p.Arg3277Cys) single nucleotide variant Pathogenic rs148812376 GRCh38 Chromosome 16, 2099955: 2099955
43 PKD1 NM_001009944.2(PKD1): c.9829C> T (p.Arg3277Cys) single nucleotide variant Pathogenic rs148812376 GRCh37 Chromosome 16, 2149956: 2149956
44 PKD1 NM_000296.3(PKD1): c.445delC (p.Gln149Serfs) deletion Pathogenic rs796052133 GRCh38 Chromosome 16, 2118760: 2118760
45 PKD1 NM_000296.3(PKD1): c.445delC (p.Gln149Serfs) deletion Pathogenic rs796052133 GRCh37 Chromosome 16, 2168761: 2168761
46 PKD1 NM_001009944.2(PKD1): c.9988_9989insA (p.Ser3330Lysfs) duplication not provided rs796053523 GRCh38 Chromosome 16, 2099706: 2099706
47 PKD1 NM_001009944.2(PKD1): c.9988_9989insA (p.Ser3330Lysfs) duplication not provided rs796053523 GRCh37 Chromosome 16, 2149707: 2149707
48 PKD1 NM_001009944.2(PKD1): c.4051C> T (p.Arg1351Trp) single nucleotide variant Uncertain significance rs55840049 GRCh37 Chromosome 16, 2161117: 2161117
49 PKD1 NM_001009944.2(PKD1): c.4051C> T (p.Arg1351Trp) single nucleotide variant Uncertain significance rs55840049 GRCh38 Chromosome 16, 2111116: 2111116
50 PKD1 NM_001009944.2(PKD1): c.12630T> C (p.Pro4210=) single nucleotide variant Benign rs7203729 GRCh37 Chromosome 16, 2140010: 2140010

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 EGF MTOR MYC TSC1 TSC2
2
Show member pathways
12.75 ACE EGF MTOR PRKD1 REN TSC1
3
Show member pathways
12.39 EGF MTOR MYC PRKD1
4
Show member pathways
12.37 ENPP1 MTOR TSC1 TSC2
5
Show member pathways
12.28 CFTR MTOR TSC1 TSC2
6
Show member pathways
12.24 EGF MTOR TSC1 TSC2
7
Show member pathways
12.03 CFTR MTOR TSC1 TSC2
8 11.99 MTOR MYC TSC1 TSC2
9 11.98 MTOR MYC TSC1 TSC2
10 11.95 MTOR MYC TSC1 TSC2
11 11.86 CFTR EGF MYC PCSK2
12 11.83 MTOR MYC TSC2
13
Show member pathways
11.77 MTOR MYC TSC1 TSC2
14 11.76 EGF MTOR MYC
15
Show member pathways
11.74 MTOR MYC TSC1 TSC2
16 11.66 MTOR TSC1 TSC2
17 11.52 EGF MTOR MYC
18 11.47 MTOR TSC1 TSC2
19 11.18 MTOR MYC TSC1 TSC2
20 11.11 MTOR TSC1 TSC2
21 11.07 EGF MTOR MYC TSC1 TSC2
22 10.88 MTOR MYC TSC1 TSC2
23 10.85 MTOR TSC1

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 9.62 CFTR EGF ENPP1 MTOR
2 basolateral plasma membrane GO:0016323 9.56 AQP2 ENPP1 PKD1 PKD2
3 membrane GO:0016020 9.53 ACE AQP2 CFTR EGF ENPP1 MTOR
4 TSC1-TSC2 complex GO:0033596 9.16 TSC1 TSC2
5 polycystin complex GO:0002133 8.96 PKD1 PKD2

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 9.86 FBN1 PKD1 PKD2 TSC2
2 liver development GO:0001889 9.74 PKD1 PKD2 PRKCSH
3 energy reserve metabolic process GO:0006112 9.62 MTOR MYC
4 amyloid-beta metabolic process GO:0050435 9.62 ACE REN
5 negative regulation of macroautophagy GO:0016242 9.61 MTOR TSC1
6 placenta blood vessel development GO:0060674 9.61 PKD1 PKD2
7 positive regulation of glial cell proliferation GO:0060252 9.6 MTOR MYC
8 angiotensin maturation GO:0002003 9.59 ACE REN
9 cytoplasmic sequestering of transcription factor GO:0042994 9.58 PKD1 PKD2
10 negative regulation of glucose import GO:0046325 9.58 ENPP1 MYC
11 spinal cord development GO:0021510 9.58 MTOR PKD1 PKD2
12 anoikis GO:0043276 9.55 MTOR TSC2
13 negative regulation of cell size GO:0045792 9.54 MTOR TSC1
14 negative regulation of insulin receptor signaling pathway GO:0046627 9.54 ENPP1 TSC1 TSC2
15 regulation of calcium ion import GO:0090279 9.52 EGF PKD2
16 mesonephric tubule development GO:0072164 9.51 PKD1 PKD2
17 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.49 PKD1 PKD2
18 metanephric collecting duct development GO:0072205 9.48 AQP2 PKD1
19 mesonephric duct development GO:0072177 9.46 PKD1 PKD2
20 metanephric ascending thin limb development GO:0072218 9.43 PKD1 PKD2
21 renal system development GO:0072001 9.43 PKD1 PKD2 PRKCSH
22 cell cycle arrest GO:0007050 9.43 MTOR MYC PKD1 PKD2 TSC1 TSC2
23 detection of mechanical stimulus GO:0050982 9.33 PKD1 PKD2 PKDREJ
24 cellular response to hydrostatic pressure GO:0071464 9.32 MYC PKD2
25 kidney development GO:0001822 9.17 ACE FBN1 PKD1 PKD2 PKHD1 REN

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 protein binding GO:0005515 9.89 AQP2 CFTR EGF ENPP1 FBN1 MTOR
2 calcium ion binding GO:0005509 9.63 EGF ENPP1 FBN1 PKD2 PKDREJ PRKCSH
3 ion channel binding GO:0044325 9.5 PKD1 PKD2 PRKCSH
4 calcium channel activity GO:0005262 9.43 PKD1 PKD2 PKDREJ
5 phosphoprotein binding GO:0051219 8.8 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
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
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