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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Fanconi syndrome
Summary
- Synonym
-
- Congenital Fanconi syndrome
- De Toni-Fanconi syndrome
- Fanconi-de Toni syndrome
- Fanconi-de-Toni syndrome
- Infantile nephropathic cystinosis
- Lignac-Fanconi syndrome
- adult Fanconi Anemia
- adult Fanconi syndrome
- deToni Fanconi syndrome
- Definition
- A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
- Super Class
- renal tubular transport disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1595 | CYP51A1 | cytochrome P450 family 51 subfamily A member 1 | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 | |
| 6523 | SLC5A1 | solute carrier family 5 member 1 | |
| 8875 | VNN2 | vanin 2 |
Related Glycoprotein
