SGPL1
HGNC:10817 · SaudiVarKB evidence summary derived from retained literature mentions.
6Gene mentions
6Publications
2Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in SGPL1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| nephrotic syndrome | — | 5 | 5 |
| epilepsy | HP:0001250 | 2 | 2 |
| inborn error of metabolism | HP:0001939 | 1 | 1 |
Linked variants
Variants normalized to SGPL1Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 2 |
| Not specified | — | 4 | 1 |
| Not specified | — | 76 | 1 |
| Saudi Arabia | — | 21 | 1 |
Supporting publications
6 records- 2026Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause.Frontiers in endocrinologyPubMed ↗
- 2024Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.Orphanet journal of rare diseasesPubMed ↗
- 2024Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.Genetics in medicine openPubMed ↗
- 2020Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.Journal of inherited metabolic diseasePubMed ↗
- 2020MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.AJNR. American journal of neuroradiologyPubMed ↗
- 2019SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.The Journal of clinical endocrinology and metabolismPubMed ↗