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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Dent disease
Summary
- Synonym
-
- Dent disease 1
- Dent disease 2
- Dent's disease
- Definition
- A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
- Super Class
- X-linked recessive disease renal tubular transport disease
External Links
- Disease Ontology
- DOID:0050699
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P32019 | Type II inositol 1,4,5-trisphosphate 5-phosphatase | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q01968 | Inositol polyphosphate 5-phosphatase OCRL | |
| Q93063 | Exostosin-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001537 | Umbilical hernia |
| HP:0011463 | Childhood onset |
| HP:0000121 | Nephrocalcinosis |
| HP:0004322 | Short stature |
| HP:0100543 | Cognitive impairment |
| HP:0002150 | Hypercalciuria |
| HP:0000114 | Proximal tubulopathy |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0011342 | Mild global developmental delay |
