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nephrotic syndrome type 2
Summary
- Synonym
-
- steroid-resistant autosomal recessive nephrotic syndrome
- Definition
- A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080379
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75015 | Low affinity immunoglobulin gamma Fc region receptor III-B | |
| P12821 | Angiotensin-converting enzyme | |
| Q9P212 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002027 | Abdominal pain |
| HP:0100539 | Periorbital edema |
| HP:0000737 | Irritability |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0002586 | Peritonitis |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0001945 | Fever |
| HP:0000093 | Proteinuria |
| HP:0002315 | Headache |
