iminoglycinuria

Term ID

DOID:0112265

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/19033659/

References

• GARD:8424
• MESH:C536285
• OMIM:242600
• ORDO:42062

Ontology

Human Disease   ( DOID:0112265 )