Details of Disease

General Information of Disease (ID: DISZ0XA4)

Disease Name Cystinuria type B
Disease Hierarchy
DISCU7CO: Cystinuria
DISZ0XA4: Cystinuria type B
Disease Identifiers
MONDO ID
MONDO_0019746
MESH ID
C565652
UMLS CUI
C1857389
MedGen ID
347442
Orphanet ID
93613

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC7A9 DTP7AEQ Supportive Semidominant [1]
SLC3A1 DTBCKVM moderate Genetic Variation [2]
SLC7A9 DTP7AEQ Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC7A9 OTMNY2WA Supportive Semidominant [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 Delineation of cystinuria in Saudi Arabia: A case series.BMC Nephrol. 2017 Feb 6;18(1):50. doi: 10.1186/s12882-017-0469-x.