Details of Disease

General Information of Disease (ID: DISWRYYA)

Disease Name Carbohydrate metabolism disease
Synonyms disorder of carbohydrate metabolic process; carbohydrate metabolic process disease; disorder of carbohydrate metabolism
Definition A disease that has its basis in the disruption of carbohydrate metabolic process.
Disease Hierarchy
DIS71G5H: Metabolic disorder
DISWD40R: Disease
DISWRYYA: Carbohydrate metabolism disease
Disease Identifiers
MONDO ID
MONDO_0037792
UMLS CUI
C0149670
MedGen ID
472889
SNOMED CT ID
20957000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALDOB OT7FR69A Strong Altered Expression [1]
EPM2A OTJU4IAG Strong Biomarker [2]
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References

1 Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.Hum Mutat. 2004 Dec;24(6):534. doi: 10.1002/humu.9290.
2 Lafora disease: epidemiology, pathophysiology and management.CNS Drugs. 2010 Jul;24(7):549-61. doi: 10.2165/11319250-000000000-00000.