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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 308 | ANXA5 | annexin A5 | |
| 2908 | NR3C1 | nuclear receptor subfamily 3 group C member 1 | |
| 7225 | TRPC6 | transient receptor potential cation channel subfamily C member 6 | |
| 7827 | NPHS2 | NPHS2 stomatin family member, podocin | |
| 7941 | PLA2G7 | phospholipase A2 group VII | |
| 51196 | PLCE1 | phospholipase C epsilon 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11747 | Anxa5 | annexin A5 | |
| 14815 | Nr3c1 | nuclear receptor subfamily 3, group C, member 1 | |
| 22068 | Trpc6 | transient receptor potential cation channel, subfamily C, member 6 | |
| 27226 | Pla2g7 | phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
- 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 |
