NPHS1
HGNC:7908 · SaudiVarKB evidence summary derived from retained literature mentions.
13Gene mentions
13Publications
2Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in NPHS1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| nephrotic syndrome | — | 11 | 11 |
| renal failure | — | 2 | 2 |
| hypertension | — | 1 | 1 |
| dyslipidemia | — | 1 | 1 |
Linked variants
Variants normalized to NPHS1Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 200 | 1 |
| Not specified | — | 20 | 1 |
| Not specified | — | 48 | 1 |
| Saudi Arabia | — | 3 | 1 |
| Not specified | — | 58 | 1 |
| Saudi Arabia | — | 62 | 1 |
| Saudi Arabia · Riyadh | — | 206 | 1 |
| Saudi Arabia · Jeddah | — | 44 | 1 |
Supporting publications
13 records- 2025Genomic Insights into Blood Pressure Regulation: Exploring Ion Channel and Transporter Gene Variations in Jordanian Hypertensive Individuals.Medicina (Kaunas, Lithuania)PubMed ↗
- 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 ArabiaPubMed ↗
- 2023Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaPubMed ↗
- 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 ArabiaPubMed ↗
- 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 ArabiaPubMed ↗
- 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 ArabiaPubMed ↗
- 2019Genetics of congenital and infantile nephrotic syndrome.World journal of pediatrics : WJPPubMed ↗
- 2014Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Clinical journal of the American Society of Nephrology : CJASNPubMed ↗
- 2013A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.Journal of human geneticsPubMed ↗
- 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 ArabiaPubMed ↗
- 2013Steroid-resistant nephrotic syndrome: impact of genetic testing.Annals of Saudi medicinePubMed ↗
- 2010A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.NDT plusPubMed ↗
- 2003Congenital nephrotic syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaPubMed ↗