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Dent disease
Summary
- Synonym
-
- Dent's disease
- X-linked hypercalciuric nephrocalcinosis
- Definition
- A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
- Super Class
- X-linked recessive disease renal tubular transport disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3UL16 | Chloride channel protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001537 | Umbilical hernia |
| HP:0000121 | Nephrocalcinosis |
| HP:0002150 | Hypercalciuria |
| HP:0000114 | Proximal tubulopathy |
| HP:0002148 | Hypophosphatemia |
| HP:0001419 | X-linked recessive inheritance |
| HP:0004322 | Short stature |
| HP:0100543 | Cognitive impairment |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0011463 | Childhood onset |
