Details of Disease

General Information of Disease (ID: DIS3SHAH)

Disease Name Cystinuria type A
Disease Hierarchy
DISCU7CO: Cystinuria
DIS3SHAH: Cystinuria type A
Disease Identifiers
MONDO ID
MONDO_0019745
MESH ID
C565652
UMLS CUI
C1857388
MedGen ID
347441
Orphanet ID
93612

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC3A1 DTBCKVM Supportive Autosomal recessive [1]
SLC3A1 DTBCKVM Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC3A1 OT56V01A Supportive Autosomal recessive [1]
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References

1 Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14.
2 Metabolic consequences of cystinuria.BMC Nephrol. 2019 Jun 20;20(1):227. doi: 10.1186/s12882-019-1417-8.