polycystic kidney disease
SaudiVarKB evidence summary derived from retained literature mentions.
63Phenotype mentions
63Publications
31Associated gene records
30Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| PKHD1 | HGNC:9016 | 7 | 7 |
| PKD1 | HGNC:9008 | 7 | 7 |
| PKD2 | HGNC:9009 | 6 | 6 |
| TSC2 | HGNC:12363 | 2 | 2 |
| PAH | HGNC:8582 | 1 | 1 |
| TBX4 | HGNC:11603 | 1 | 1 |
| PKD1L1 | HGNC:18053 | 1 | 1 |
| CFTR | HGNC:1884 | 1 | 1 |
| LDLR | HGNC:6547 | 1 | 1 |
| UGGT1 | HGNC:15663 | 1 | 1 |
| ANKS6 | HGNC:26724 | 1 | 1 |
| SCN5A | HGNC:10593 | 1 | 1 |
| CYP3A5 | HGNC:2638 | 1 | 1 |
| PKD2L2 | HGNC:9012 | 1 | 1 |
| PKD1L2 | HGNC:21715 | 1 | 1 |
| EGF | HGNC:3229 | 1 | 1 |
| LRP5 | HGNC:6697 | 1 | 1 |
| PDIA6 | HGNC:30168 | 1 | 1 |
| EIF2AK3 | HGNC:3255 | 1 | 1 |
| PRDM13 | HGNC:13998 | 1 | 1 |
| PKD1L3 | HGNC:21716 | 1 | 1 |
| GANAB | HGNC:4138 | 1 | 1 |
| DNAJB11 | HGNC:14889 | 1 | 1 |
| CYP11B2 | HGNC:2592 | 1 | 1 |
| MYC | HGNC:7553 | 1 | 1 |
| DDIT4 | HGNC:24944 | 1 | 1 |
| EPAS1 | HGNC:3374 | 1 | 1 |
| SFRP1 | HGNC:10776 | 1 | 1 |
| TPMT | HGNC:12014 | 1 | 1 |
| TMEM231 | HGNC:37234 | 1 | 1 |
| NEK2 | HGNC:7745 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| p.Arg1624Trp | p.Arg1624Trp | 3 | 3 |
| p.Arg1909Trp | p.Arg1909Trp | 2 | 2 |
| p.Thr579Met | p.Thr579Met | 2 | 2 |
| p.Leu3543Trp | p.Leu3543Trp | 2 | 2 |
| p.Val4145Ile | p.Val4145Ile | 2 | 2 |
| p.Phe482Cys | p.Phe482Cys | 2 | 2 |
| c.1159A>C | c.1159A>C | 1 | 1 |
| c.907+2T>A | c.907+2T>A | 1 | 1 |
| R1680C | R1680C | 1 | 1 |
| rs3802230 | rs3802230 | 1 | 1 |
| rs4543 | rs4543 | 1 | 1 |
| rs4544 | rs4544 | 1 | 1 |
| c.4870C>T | c.4870C>T | 1 | 1 |
| c.5725C>T | c.5725C>T | 1 | 1 |
| c.1736C>T | c.1736C>T | 1 | 1 |
| c.10628T>G | c.10628T>G | 1 | 1 |
| c.12433G>A | c.12433G>A | 1 | 1 |
| c.1445T>G | c.1445T>G | 1 | 1 |
| rs113562492 | rs113562492 | 1 | 1 |
| rs137972270 | rs137972270 | 1 | 1 |
| rs115045643 | rs115045643 | 1 | 1 |
| rs116809571 | rs116809571 | 1 | 1 |
| rs115338476 | rs115338476 | 1 | 1 |
| rs76895755 | rs76895755 | 1 | 1 |
| rs62406032 | rs62406032 | 1 | 1 |
| rs35445653 | rs35445653 | 1 | 1 |
| rs1896976 | rs1896976 | 1 | 1 |
| rs1326605 | rs1326605 | 1 | 1 |
| rs1571084 | rs1571084 | 1 | 1 |
| rs9395699 | rs9395699 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 3 | 3 |
| Population record | — | 2 | 2 |
| Population record | Cohort 11 | 2 | 2 |
| Population record | Cohort 0 | 1 | 1 |
| Saudi Arabia | Cohort 11 | 1 | 1 |
| Population record | Cohort 59 | 1 | 1 |
| Population record | Cohort 5 | 1 | 1 |
| Population record | Cohort 26 | 1 | 1 |
| Population record | Cohort 61 | 1 | 1 |
| Population record | Cohort 152 | 1 | 1 |
| Population record | Cohort 15 | 1 | 1 |
| Population record | Cohort 94 | 1 | 1 |
| Saudi Arabia | Cohort 16 | 1 | 1 |
| Saudi Arabia · Hail | Cohort 1 | 1 | 1 |
| Population record | Cohort 51 | 1 | 1 |
| Population record | Cohort 208 | 1 | 1 |
| Population record | Cohort 569 | 1 | 1 |
| Population record | Cohort 106 | 1 | 1 |
| Population record | Cohort 84 | 1 | 1 |
| Population record | Cohort 436 | 1 | 1 |
| Population record | Cohort 363 | 1 | 1 |
Supporting publications
63 records- 2026NIMA-related Kinase 2: A master regulator of mitotic fidelity and chromosomal instability in cancer: From mechanisms to therapeutic targeting.Biochimica et biophysica acta. Reviews on cancer1 mentions
- 2026Pegcetacoplan-induced remission in pediatric immune-complex membranoproliferative glomerulonephritis with comorbid autosomal recessive polycystic kidney disease: a case report.Frontiers in medicine1 mentions
- 2025Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.American journal of human genetics1 mentions
- 2025Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.American journal of kidney diseases : the official journal of the National Kidney Foundation1 mentions
- 2025LRP5: A Multifaceted Co-Receptor in Development, Disease, and Therapeutic Target.Cells1 mentions
- 2025The Relationship of Renalase with Diurnal Blood Pressure Rhythm, Left Ventricular Mass Index and Carotid Intima-media Thickness in Autosomal Dominant Polycystic Kidney Disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2024miRNAs Role in Wilms tumor pathogenesis: Signaling pathways interplay.Pathology, research and practice1 mentions
- 2024Discovery of putative inhibitors of human Pkd1 enzyme: Molecular docking, dynamics and simulation, QSAR, and MM/GBSA.Environmental research1 mentions
- 2024ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.Genes1 mentions
- 2022Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.American journal of medical genetics. Part A1 mentions
- 2022Hereditary thrombotic thrombocytopenic purpura (TTP) with co-occurring autosomal dominant polycystic kidney disease (ADPKD).BMJ case reports1 mentions
- 2022Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.Medicina (Kaunas, Lithuania)1 mentions
- 2022The Relevance of the Imaging in Autosomal Dominant Polycystic Kidney Disease Management.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.Clinical genetics1 mentions
- 2021Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.The Gulf journal of oncology1 mentions
- 2021Lenvatinib-induced multiorgan adverse events in Hurthle cell thyroid cancer: A case report.World journal of clinical oncology1 mentions
- 2021Prevalence and predicting factors of increased arterial stiffness in autosomal dominant polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021Polycystic horseshoe kidney case report: Genetically reviewed.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021Distal Renal Tubular Acidosis due to Primary Sjögren's Syndrome: Presents as Hypoakalemic Paralysis with Hypokalemia-Induced Nephrogenic Diabetes Insipidus.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2020Maintenance Peritoneal Dialysis in Children With Autosomal Recessive Polycystic Kidney Disease: A Comparative Cohort Study of the International Pediatric Peritoneal Dialysis Network Registry.American journal of kidney diseases : the official journal of the National Kidney Foundation1 mentions
- 2020Rapamycin treatment correlates changes in primary cilia expression with cell cycle regulation in epithelial cells.Biochemical pharmacology1 mentions
- 2019Clinical study on autosomal dominant polycystic kidney disease among North Tunisians.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2019Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.Pediatric nephrology (Berlin, Germany)1 mentions
- 2019Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2019Exome sequencing of Saudi Arabian patients with ADPKD.Renal failure1 mentions
- 2018A patient with polycystic kidney disease, hepatic cysts and atrial myxoma.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2018Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Autosomal dominant polycystic kidney disease: Study of clinical characteristics in an Indian population.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients.Radiology case reports1 mentions
- 2017Update on pathogenesis, management, and treatment of hypertension in autosomal dominant polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Association between autosomal dominant polycystic kidney disease and autoimmune diseases: A simple coincidence or more?Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Aldosterone synthase gene is not a major susceptibility gene for progression of chronic kidney disease in patients with autosomal dominant polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Epidemiology of end-stage renal disease in Dubai: Single-center data.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017A rare cardiac manifestation in autosomal-dominant polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2016Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.Human genomics1 mentions
- 2016Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.Gene1 mentions
- 2016Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.Genomics data1 mentions
- 2016Autosomal dominant polycystic kidney disease in children.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015Paradoxical increase in blood pressure following bilateral native nephrectomy.Clinical case reports1 mentions
- 2015Is CAPD a viable option among ADPKD with end stage renal disease population in India? Its outcomes and economics.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2014Emphysematous polycystic infection in a patient on peritoneal dialysis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2014Caroli's syndrome with autosomal recessive polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2014Autosomal recessive polycystic kidney disease.Journal of neonatal surgery1 mentions
- 2013Mutations in TMEM231 cause Meckel-Gruber syndrome.Journal of medical genetics1 mentions
- 2013Autosomal dominant polycystic kidney disease: new insights into treatment.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2012Etiology of chronic renal failure in Jenin district, Palestine.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2012Caroli's syndrome in a post renal transplant patient: case report and review of the literature.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association1 mentions
- 2012Moxonidine-induced priapism in an autosomal-dominant polycystic kidney disease dialysis patient.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2012Simultaneous hemorrhage in intracranial aneurysms and in renal cyst in a case of polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2011Deceased donor kidney transplantation in autosomal dominant polycystic kidney disease: a single-center experience.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2011The prevalence of hypertension and nephrolithiasis in a sample of Iraqi patients with autosomal-dominant polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2010Patterns of autosomal dominant polycystic kidney diseases in black Africans.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2010Prevalence and pattern of cystic kidney diseases in Ilorin, Nigeria.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2009Analysis of causes of mortality in patients with autosomal dominant polycystic kidney disease: a single center study.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2008Outcome of kidney transplantation in patients with polycystic kidney disease: a single center study.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2008Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).Advances in anatomic pathology1 mentions
- 2007Non-Hodgkin's lymphoma in autosomal dominant polycystic kidney disease, 12 years after renal transplantation.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2006The renal allograft donor with isolated microhematuria.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2006Retrospective analysis of factors affecting the progression of chronic renal failure in adult polycystic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2005Molecular basis of autosomal dominant polycystic kidney disease.Advances in anatomic pathology1 mentions
- 1998Genetically transmitted renal diseases in children: a saudi perspective.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 1994Autosomal recessive polycystic kidney disease in 15 Arab children.Pediatric nephrology (Berlin, Germany)1 mentions
- 1992Imaging of infantile polycystic kidney disease with some rare association.Urologia internationalis1 mentions