Details of Disease

General Information of Disease (ID: DISB20Y5)

• Disease Name: Iminoglycinuria
• Synonyms: iminoglycinuria, digenic; iminoglycinuria
• 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.
• Disease Hierarchy:
  DIS1BLHT: Inborn disorder of amino acid transport
  DISB20Y5: Iminoglycinuria
• Disease Identifiers:
  MONDO ID: MONDO_0009448
  MESH ID: C536285
  UMLS CUI: C0268654
  OMIM ID: 242600
  MedGen ID: 124342
  Orphanet ID: 42062
  SNOMED CT ID: 84121007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC36A2	TT5U0XA	Limited	Genetic Variation	[1]

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC36A2	DTAOPTV	Supportive	Autosomal recessive	[1]
SLC6A18	DTGQ7FH	Strong	Biomarker	[1]
SLC6A19	DTOTAUP	Strong	Biomarker	[2]
SLC6A20	DT97OMP	Strong	Biomarker	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC36A2	OT34J8RK	Supportive	Autosomal recessive	[1]

References

• [1] Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. J Clin Invest. 2008 Dec;118(12):3881-92. doi: 10.1172/JCI36625. Epub 2008 Nov 6.
• [2] A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.Int J Dermatol. 2009 Apr;48(4):388-92. doi: 10.1111/j.1365-4632.2009.03989.x.
• [3] A genome-wide association study of metabolic traits in human urine.Nat Genet. 2011 Jun;43(6):565-9. doi: 10.1038/ng.837. Epub 2011 May 15.