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
Fanconi renotubular syndrome 2
Summary
- Definition
- A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35.
- Super Class
- Fanconi syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080758
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06495 | Sodium-dependent phosphate transport protein 2A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003076 | Glycosuria |
| HP:0002148 | Hypophosphatemia |
| HP:0004910 | Bicarbonate-wasting renal tubular acidosis |
| HP:0001824 | Weight loss |
| HP:0003234 | Decreased circulating carnitine concentration |
| HP:0012622 | Chronic kidney disease |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0001324 | Muscle weakness |
| HP:0002900 | Hypokalemia |
| HP:0003646 | Bicarbonaturia |
