nephrotic syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
99Phenotype mentions
99Publications
50Associated gene records
37Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| NPHS2 | HGNC:13394 | 13 | 13 |
| NPHS1 | HGNC:7908 | 11 | 11 |
| WT1 | HGNC:12796 | 10 | 10 |
| PLCE1 | HGNC:17175 | 9 | 9 |
| SGPL1 | HGNC:10817 | 5 | 5 |
| LAMB2 | HGNC:6487 | 4 | 4 |
| ITSN1 | HGNC:6183 | 2 | 2 |
| INS | HGNC:6081 | 2 | 2 |
| SMARCAL1 | HGNC:11102 | 2 | 2 |
| CD151 | HGNC:1630 | 2 | 2 |
| OSGEP | HGNC:18028 | 2 | 2 |
| PKHD1 | HGNC:9016 | 1 | 1 |
| NUP133 | HGNC:18016 | 1 | 1 |
| CD19 | HGNC:1633 | 1 | 1 |
| HLA-DRB1 | HGNC:4948 | 1 | 1 |
| COL7A1 | HGNC:2214 | 1 | 1 |
| CDC42 | HGNC:1736 | 1 | 1 |
| ACE | HGNC:2707 | 1 | 1 |
| APOL1 | HGNC:618 | 1 | 1 |
| COL4A5 | HGNC:2207 | 1 | 1 |
| COL4A3 | HGNC:2204 | 1 | 1 |
| ADAMTS13 | HGNC:1366 | 1 | 1 |
| FBN1 | HGNC:3603 | 1 | 1 |
| LCAT | HGNC:6522 | 1 | 1 |
| HLA-DQB1 | HGNC:4944 | 1 | 1 |
| NPS | HGNC:33940 | 1 | 1 |
| LMX1B | HGNC:6654 | 1 | 1 |
| MEFV | HGNC:6998 | 1 | 1 |
| NOS1AP | HGNC:16859 | 1 | 1 |
| C1orf226 | HGNC:34351 | 1 | 1 |
| HLA-DQA1 | HGNC:4942 | 1 | 1 |
| NR3C1 | HGNC:7978 | 1 | 1 |
| MYO1C | HGNC:7597 | 1 | 1 |
| AHI1 | HGNC:21575 | 1 | 1 |
| COL4A1 | HGNC:2202 | 1 | 1 |
| NEIL1 | HGNC:18448 | 1 | 1 |
| CD2AP | HGNC:14258 | 1 | 1 |
| CRB2 | HGNC:18688 | 1 | 1 |
| INF2 | HGNC:23791 | 1 | 1 |
| CLVS1 | HGNC:23139 | 1 | 1 |
| SYNPO2 | HGNC:17732 | 1 | 1 |
| SYNPO | HGNC:30672 | 1 | 1 |
| NUP160 | HGNC:18017 | 1 | 1 |
| CENPI | HGNC:3968 | 1 | 1 |
| MAGI2 | HGNC:18957 | 1 | 1 |
| MYO1E | HGNC:7599 | 1 | 1 |
| PTPRO | HGNC:9678 | 1 | 1 |
| LAMA5 | HGNC:6485 | 1 | 1 |
| NUP107 | HGNC:29914 | 1 | 1 |
| GAPVD1 | HGNC:23375 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| R222Q | R222Q | 2 | 2 |
| p.Gln462Ter | p.Gln462Ter | 1 | 1 |
| p.Trp151Ter | p.Trp151Ter | 1 | 1 |
| p.Arg1624Trp | p.Arg1624Trp | 1 | 1 |
| c.6272_6273insT | c.6272_6273insT | 1 | 1 |
| p.R98W | p.R98W | 1 | 1 |
| p.K758M | p.K758M | 1 | 1 |
| c.493C>T | c.493C>T | 1 | 1 |
| p.Arg165* | p.Arg165* | 1 | 1 |
| rs9271602 | rs9271602 | 1 | 1 |
| rs2746432 | rs2746432 | 1 | 1 |
| c.973C>G | c.973C>G | 1 | 1 |
| p.Arg325Gly | p.Arg325Gly | 1 | 1 |
| c.941-3C>T | c.941-3C>T | 1 | 1 |
| p.H310Y | p.H310Y | 1 | 1 |
| H310Y | H310Y | 1 | 1 |
| p.Ala1134Thr | p.Ala1134Thr | 1 | 1 |
| c.383G>A | c.383G>A | 1 | 1 |
| p.Arg128Gln | p.Arg128Gln | 1 | 1 |
| c.451+3A>T | c.451+3A>T | 1 | 1 |
| c.665G>A | c.665G>A | 1 | 1 |
| p.R222Q | p.R222Q | 1 | 1 |
| p.Val290Met | p.Val290Met | 1 | 1 |
| p.Arg229Gln | p.Arg229Gln | 1 | 1 |
| p.Pro20Leu | p.Pro20Leu | 1 | 1 |
| p.Leu169Pro | p.Leu169Pro | 1 | 1 |
| p.Arg138Gln | p.Arg138Gln | 1 | 1 |
| p.Arg168His | p.Arg168His | 1 | 1 |
| rs9273542 | rs9273542 | 1 | 1 |
| rs2637678 | rs2637678 | 1 | 1 |
| C34Y | C34Y | 1 | 1 |
| rs1129740 | rs1129740 | 1 | 1 |
| F41S | F41S | 1 | 1 |
| rs1071630 | rs1071630 | 1 | 1 |
| E117K | E117K | 1 | 1 |
| P118L | P118L | 1 | 1 |
| Q129X | Q129X | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
99 records- 2026Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany)1 mentions
- 2026Pegcetacoplan-induced remission in pediatric immune-complex membranoproliferative glomerulonephritis with comorbid autosomal recessive polycystic kidney disease: a case report.Frontiers in medicine1 mentions
- 2026Angiotensin-converting enzyme insertion/deletion gene polymorphism in children with nephrotic syndrome: Genotype-phenotype correlations.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2026Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants.Case reports in endocrinology1 mentions
- 2026Reversible Rituximab-Induced Bronchiectasis: A Pediatric Case Report and Literature Review.The American journal of case reports1 mentions
- 2026Monogenic variants drive low recurrence risk in pediatric steroid-resistant nephrotic syndrome after kidney transplantation: a high-consanguinity cohort.Pediatric nephrology (Berlin, Germany)1 mentions
- 2025Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.Genes & diseases1 mentions
- 2025Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.Nature communications1 mentions
- 2024Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.Pediatric nephrology (Berlin, Germany)1 mentions
- 2024Nephrotic syndrome: Pretibial epidermolysis bullosa in a patient with CD151 tetraspanin defect: A case report.International journal of health sciences1 mentions
- 2024Lipoprotein Glomerulopathy With Complete Resolution With Fenofibrate: Report of First Case From Pakistan.International journal of surgical pathology1 mentions
- 2024Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.Pediatric nephrology (Berlin, Germany)1 mentions
- 2024Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.Orphanet journal of rare diseases1 mentions
- 2024Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.Genetics in medicine open1 mentions
- 2023Can Oral Zinc Supplementation Reduce Relapses in Childhood Steroid-Sensitive Nephrotic Syndrome? A Systematic Review.International journal of nephrology and renovascular disease1 mentions
- 2023Exploring the Sociodemographic and Behavioral Status of People Living with Hypercholesterolemia in Saudi Arabia: A Nation-Wide Cross-Sectional Study.Risk management and healthcare policy1 mentions
- 2023Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.Kidney international reports1 mentions
- 2023Genetic Studies in Infants with Congenital Nephrotic Syndrome: A Case Series.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2023Effectiveness of Supramaximal Angiotensin-converting Enzyme Inhibition in Controlling Proteinuria in Congenital Nephrotic Syndrome with Cytomegalovirus Infection and an NPHS1 Mutation.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2022Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis.JCI insight1 mentions
- 2022Postoperative Intracardiac Thrombus in a Child with Nephrotic Syndrome.International medical case reports journal1 mentions
- 2022Kimura Disease: An Unusual Presentation of Parotid Mass in a Sickle Cell Disease Patient.Cureus1 mentions
- 2022Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.Frontiers in genetics1 mentions
- 2022COQ8B-Related Steroid-Resistant Nephrotic Syndrome in Saudi Arabia: A Case Report.Cureus1 mentions
- 2022Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.Medicina (Kaunas, Lithuania)1 mentions
- 2022Clinical Dilemma of Corneal Opacity, Very Low High-density Lipoprotein, and Nephrotic Syndrome: Mystery Revealed.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.Kidney international reports1 mentions
- 2021Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.Kidney international reports1 mentions
- 2021Lenvatinib-induced multiorgan adverse events in Hurthle cell thyroid cancer: A case report.World journal of clinical oncology1 mentions
- 2021Paediatric Nephrology in Africa.Current pediatrics reports1 mentions
- 2021Management of Steroid-Resistant Nephrotic Syndrome in Children.Cureus1 mentions
- 2021The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021Wernicke's encephalopathy - An oddball complication of nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2020Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.Journal of nephrology1 mentions
- 2020NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2020Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.Journal of inherited metabolic disease1 mentions
- 2020Mesalazine induced focal segmental glomerulosclerosis in a patient with ulcerative colitis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2020A rare cause of nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2020MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.AJNR. American journal of neuroradiology1 mentions
- 2020Genetic screening in children with challenging nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2019Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association1 mentions
- 2019SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.The Journal of clinical endocrinology and metabolism1 mentions
- 2019Genetics of congenital and infantile nephrotic syndrome.World journal of pediatrics : WJP1 mentions
- 2019Hepatitis C virus-induced glomerular disease and posterior reversible encephalopathy syndrome after liver transplant: Case report and literature review.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2019COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.Human genetics1 mentions
- 2019Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2019Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.Journal of the American Society of Nephrology : JASN1 mentions
- 2019Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2018HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome.American journal of kidney diseases : the official journal of the National Kidney Foundation1 mentions
- 2018Complete remission of nephrotic syndrome secondary to amyloid a amyloidosis in patient with inactive Crohn's disease after treatment by infliximab.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2018Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.Nature communications1 mentions
- 2018Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.BMC ophthalmology1 mentions
- 2018GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.Journal of the American Society of Nephrology : JASN1 mentions
- 2018Should antiviral monotherapy with nucleotide analogs be the primary treatment option for focal segmental glomerulosclerosis-related nephrotic syndrome in chronic hepatitis B infection?Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2018Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.The Journal of clinical investigation1 mentions
- 2018Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome.Molecular medicine reports1 mentions
- 2017A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.PloS one1 mentions
- 2017Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Nature genetics1 mentions
- 2017Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.The Journal of clinical investigation1 mentions
- 2016WT1 mutations in steroid-resistant idiopathic nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2016Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Journal of the American Society of Nephrology : JASN1 mentions
- 2015Amyloidosis in Behcet's disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015Focal and segmental glomerulosclerosis: does prognosis vary with the variants?Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015Coexistence of sickle cell nephropathy and lupus nephritis in a Sudanese child.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015Schimke immune-osseous dysplasia: A case report.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015The correlation between attention deficit hyperactivity disorder and steroid-dependent nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2014Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Clinical journal of the American Society of Nephrology : CJASN1 mentions
- 2014mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2014Arthropathy and proteinuria: nail-patella syndrome revisited.German medical science : GMS e-journal1 mentions
- 2013A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.Journal of human genetics1 mentions
- 2013Patterns of childhood nephrotic syndrome in Aljouf region, Saudi Arabia.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2013Does NPHS1 polymorphism modulate P118l mutation in NPHS2?Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2013Steroid-resistant nephrotic syndrome: impact of genetic testing.Annals of Saudi medicine1 mentions
- 2012Histopathological pattern of pediatric renal diseases: a study from a university hospital in western Saudi Arabia.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2012Long-term outcome of the difficult nephrotic syndrome in children.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2011Rituximab for refractory cases of childhood nephrotic syndrome.Pediatric nephrology (Berlin, Germany)1 mentions
- 2011Sudden retinal vein thrombosis in a patient with nephrotic syndrome.BMJ case reports1 mentions
- 2010Treatment of steroid resistant nephrotic syndrome in children.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2010Renal artery embolization in a patient with severe nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2010Membranoproliferative glomerulonephritis secondary to chronic myeloid leukemia.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2010A hepatitis C-positive patient with new onset of nephrotic syndrome and systemic amyloidosis secondary to common variable immunodeficiency.Annals of Saudi medicine1 mentions
- 2010Simultaneous onset of steroid resistant nephrotic syndrome and IDDM in two young children.BMJ case reports1 mentions
- 2010A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.NDT plus1 mentions
- 2009Pattern of steroid resistant nephrotic syndrome in children living in the kingdom of Saudi Arabia: a single center study.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2008Cyclosporin-A induced posterior reversible encephalopathy syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2007Schimke immuno-osseous dysplasia.Saudi medical journal1 mentions
- 2006von Recklinghausen's neurofibromatosis associated with membranous glomerulonephritis.Saudi medical journal1 mentions
- 2006Remission of nephrotic syndrome in amyloidosis of familial Mediterranean fever following colchicine treatment.Annals of Saudi medicine1 mentions
- 2004Renal abnormalities in congenital chloride diarrhea.Saudi medical journal1 mentions
- 2004Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.American journal of medical genetics. Part A1 mentions
- 2003Congenital nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 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
- 1993Cytokine profile in systemic lupus erythematosus, rheumatoid arthritis, and other rheumatic diseases.Journal of clinical immunology1 mentions
- 1992Nephrotic syndrome in 1st year of life and the role of unilateral nephrectomy.Pediatric nephrology (Berlin, Germany)1 mentions
- 1991Soluble interleukin 2 receptor levels in serum and its relationship to T cell abnormality and clinical manifestations of the disease in patients with systemic lupus erythematosus.The Journal of rheumatology1 mentions