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nephrotic syndrome type 7
Summary
- Synonym
-
- Ig-mediated MPGN
- Ig-mediated membranoproliferative glomerulonephritis
- Immunoglobulin-mediated MPGN
- immunoglobulin-mediated membranoproliferative glomerulonephritis
- nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
- Definition
- A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080388
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003073 | Hypoalbuminemia |
| HP:0000793 | Membranoproliferative glomerulonephritis |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0000093 | Proteinuria |
| HP:0003621 | Juvenile onset |
| HP:0005575 | Hemolytic-uremic syndrome |
| HP:0001878 | Hemolytic anemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0004722 | Thickened glomerular basement membrane |
