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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95470 | Sphingosine-1-phosphate lyase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0009830 | Peripheral neuropathy |
| HP:0000252 | Microcephaly |
| HP:0002155 | Hypertriglyceridemia |
| HP:0000093 | Proteinuria |
| HP:0001290 | Generalized hypotonia |
| HP:0003621 | Juvenile onset |
| HP:0000821 | Hypothyroidism |
| HP:0000028 | Cryptorchidism |
| HP:0001943 | Hypoglycemia |
