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iminoglycinuria
Summary
- Definition
- A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.
- Super Class
- digenic disease renal tubular transport disease
External Links
- Disease Ontology
- DOID:0112265
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
