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sialuria
Summary
- Definition
- A lysosomal storage disease characterized by increased sialic acid in the urine.
- Super Class
- lysosomal storage disease
External Links
- Disease Ontology
- DOID:3659
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 1118 | CHIT1 | chitinase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5973 | RENBP | renin binding protein | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002684 | Thickened calvaria |
| HP:0001260 | Dysarthria |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000639 | Nystagmus |
| HP:0001251 | Ataxia |
| HP:0002540 | Inability to walk |
| HP:0001257 | Spasticity |
| HP:0001249 | Intellectual disability |
| HP:0001510 | Growth delay |
