Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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:0003774 | Stage 5 chronic kidney disease |
| HP:0002315 | Headache |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0100539 | Periorbital edema |
| HP:0000969 | Edema |
