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Dent disease 1
Summary
- Definition
- A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent.
- Super Class
- Dent disease
External Links
- Disease Ontology
- DOID:0081453
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51795 | H(+)/Cl(-) exchange transporter 5 |
