iminoglycinuria
Findings
No curated finding names iminoglycinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0009448), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HydroxyprolinuriaHPOHP:0003080
- Obligate (100% of cases)
- HyperglycinuriaHPOHP:0003108
- Obligate (100% of cases)
- ProlinuriaHPOHP:0003137
- Obligate (100% of cases)
Reported absent (3)
- HydroxyprolinemiaHPOHP:0003260
- HyperglycinemiaHPOHP:0002154
- HyperprolinemiaHPOHP:0008358
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC36A2HGNC:18762
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: iminoglycinuria
- Also called
- iminoglycinuria, digenic