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 23
Summary
- Synonym
-
- NPHS23
- Definition
- A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0112266
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96J84 | Kin of IRRE-like protein 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 |
