Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

iminoglycinuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

iminoglycinuria

MONDO:0009448

Also known as:iminoglycinuria, digenic

Overview

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.

GeneticsAutosomal recessive · SLC36A2 (chr 5)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Prolinuria, Hydroxyprolinuria, Hyperglycinuria, and Intellectual disability and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Intellectual disability
Eyes	1	Abnormality of the eye

Explore clinical features

Genetic Landscape

SLC36A2 function has not been fully characterized.

Iminoglycinuria has limited evidence linking it to mutations in the SLC36A2 gene on chromosome 5.

Diagnosis

Genetic testing for SLC36A2 is available. Testing is considered research-grade for diagnosis.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for iminoglycinuria.

1 publication has been identified in PubMed for iminoglycinuria. Research spans Basic Science / Preclinical (100%).

Recent Publications

Li HZ (2024). [PMID: 38951531](https://pubmed.ncbi.nlm.nih.gov/38951531/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:242600

Orphanet

European rare disease database

Orphanet:42062

GARD

Genetic and Rare Diseases Info Center

GARD:8424

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

iminoglycinuria

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team