Details of Disease | DrugMAP

General Information of Disease (ID: DISMY8FA)

Disease Name	Glycogen storage disease due to muscle beta-enolase deficiency
Synonyms	GSD 13; enolase 3 deficiency; GSD13; enolase-Beta deficiency; glycogen storage disease XIII; glycogen storage disease 13; glycogen storage disease type 13; glycogenosis due to muscle beta-enolase deficiency; muscle enolase deficiency; GSDXIII; GSD due to muscle beta-enolase deficiency; muscular enolase deficiency; glycogen storage disease due to muscle beta-enolase deficiency; glycogenosis type 13
Definition	Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
Disease Hierarchy	DISYGNOB: Disorder of glycogen metabolism DIS30PPZ: Disorder of glycolysis DISMY8FA: Glycogen storage disease due to muscle beta-enolase deficiency
Disease Identifiers	MONDO ID MONDO_0013046 MESH ID C567861 UMLS CUI C2752027 OMIM ID 612932 MedGen ID 442873 Orphanet ID 99849

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
ENO3	OT3HYKYI	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.