Details of Disease

General Information of Disease (ID: DISV24X3)

Disease Name	Carbohydrate metabolism disorder
Synonyms	disorder of carbohydrate metabolism; carbohydrate metabolic disorder; carbohydrate metabolism disorder; disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolic process disorder; inborn errors of carbohydrate metabolism; inborn error of carbohydrate metabolic process; rare inborn error of carbohydrate metabolic process; inborn carbohydrate metabolism disorder
Disease Class	5C51: Inborn carbohydrate metabolism error
Definition	An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.
Disease Hierarchy	DISWRYYA: Carbohydrate metabolism disease DISO5FAY: Inborn error of metabolism DISV24X3: Carbohydrate metabolism disorder
ICD Code	ICD-11 ICD-11: 5C51.Z Expand ICD-11 '5C51.Z
Disease Identifiers	MONDO ID MONDO_0019214 MESH ID D002239 UMLS CUI C0007001 MedGen ID 2825 Orphanet ID 79161

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Anamorelin	DM6HXTS	Phase 3	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRKAG3	OTS1A2VE	Strong	Biomarker	[2]
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References

1	ClinicalTrials.gov (NCT01395914) Anamorelin HCl in the Treatment of Non-Small Cell Lung Cancer-Cachexia (NSCLC-C): An Extension Study (ROMANA 3). U.S. National Institutes of Health.
2	Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.PLoS One. 2007 Sep 19;2(9):e903. doi: 10.1371/journal.pone.0000903.