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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q9NP85 | Podocin | |
| Q9P212 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | |
| Q9Y210 | Short transient receptor potential channel 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000737 | Irritability |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000093 | Proteinuria |
| HP:0011947 | Respiratory tract infection |
| HP:0001945 | Fever |
| HP:0003073 | Hypoalbuminemia |
| HP:0002027 | Abdominal pain |
| HP:0012622 | Chronic kidney disease |
| HP:0002586 | Peritonitis |
