OBO ID: DOID:0112265
Term Name: iminoglycinuria Search Ontology:
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:
Ontology: Human Disease   (DOID:0112265)
OTHER iminoglycinuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC36A1 Iminoglycinuria, digenic 242600
SLC36A2 Iminoglycinuria, digenic 242600
SLC36A3 Iminoglycinuria, digenic 242600
SLC6A19 Iminoglycinuria, digenic 242600
SLC6A20 Iminoglycinuria, digenic 242600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None