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nephrotic syndrome type 14
Summary
- Definition
- A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080265
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95470 | Sphingosine-1-phosphate lyase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000100 | Nephrotic syndrome |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0012574 | Mesangial hypercellularity |
| HP:0001263 | Global developmental delay |
| HP:0000486 | Strabismus |
| HP:0003073 | Hypoalbuminemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001888 | Lymphopenia |
| HP:0000097 | Focal segmental glomerulosclerosis |
