Details of Disease

General Information of Disease (ID: DISL7D0R)

Disease Name Hyperglycinuria
Synonyms glycinuria with or without oxalate urolithiasis; Iminoglycinuria type 2; glycinuria with or without oxalate nephrolithiasis; hyperglycinuria; hyperglycinuria (disease)
Disease Hierarchy
DISYKSRF: Genetic disease
DIS0HU8N: Urinary tract disease
DISL7D0R: Hyperglycinuria
Disease Identifiers
MONDO ID
MONDO_0007677
MESH ID
C563009
UMLS CUI
C0543541
OMIM ID
138500
MedGen ID
107456
HPO ID
HP:0003108

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
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]
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This Disease Is Related to 5 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC36A2 DTAOPTV Limited Semidominant [2]
SLC6A20 DT97OMP Limited Autosomal recessive [2]
SLC6A19 DTOTAUP Strong Biomarker [3]
SLC6A20 DT97OMP Strong Biomarker [1]
SLC6A18 DTGQ7FH Definitive Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC36A2 OT34J8RK Limited Semidominant [2]
SLC6A20 OTHRD4XO Limited Autosomal recessive [2]
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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 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 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.