Alport syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
7Phenotype mentions
7Publications
4Associated gene records
1Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.2420delG | c.2420delG | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 2 | 2 |
| Saudi Arabia | — | 1 | 1 |
| Population record | Cohort 25 | 1 | 1 |
Supporting publications
7 records- 2023A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives.Biomedicines1 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
- 2017Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome.Kidney international reports1 mentions
- 2014COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.International journal of pediatric otorhinolaryngology1 mentions
- 2009Epstein syndrome with rapid progression to end stage renal disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2003Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 1995The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient.Pathology1 mentions