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nephrotic syndrome type 1
Summary
- Synonym
-
- Finnish congenital nephrosis
- Definition
- A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080390
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1636 | ACE | angiotensin I converting enzyme | |
| 2719 | GPC3 | glypican 3 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 6383 | SDC2 | syndecan 2 | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 11181 | TREH | trehalase | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 56052 | ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
Related Glycoprotein
