Details of Disease | DrugMAP

General Information of Disease (ID: DISQE1VS)

Disease Name	Glycogen storage disease due to acid maltase deficiency, infantile onset
Synonyms	glycogen storage disease type 2, infantile onset; GSD type 2, infantile onset; Pompe disease, infantile onset; glycogenosis due to acid maltase deficiency, infantile onset; glycogenosis type II, infantile onset; glycogenosis type 2, infantile onset; GSD type II, infantile onset; glycogen storage disease type II, infantile onset; alpha-1,4-glucosidase acid deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset
Definition	Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
Disease Hierarchy	DISXZPBC: Glycogen storage disease type II DISQE1VS: Glycogen storage disease due to acid maltase deficiency, infantile onset
Disease Identifiers	MONDO ID MONDO_0017694 UMLS CUI C3888924 MedGen ID 923868 Orphanet ID 308552 SNOMED CT ID 722302009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAA	TTLPC70	Supportive	Autosomal recessive	[1]
GAA	TTLPC70	Strong	Biomarker	[2]
MGAM	TTXWASR	Strong	Biomarker	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SI	DE5EO4Y	Strong	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GAA	OT03PU29	Supportive	Autosomal recessive	[1]
ND5	OT45LW1K	Strong	Genetic Variation	[4]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells.Front Cell Dev Biol. 2019 Nov 29;7:316. doi: 10.3389/fcell.2019.00316. eCollection 2019.
3	An immune tolerance approach using transient low-dose methotrexate in the ERT-nave setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.Genet Med. 2019 Apr;21(4):887-895. doi: 10.1038/s41436-018-0270-7. Epub 2018 Sep 14.
4	A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.Biochem Biophys Res Commun. 2012 Dec 7;429(1-2):31-8. doi: 10.1016/j.bbrc.2012.10.105. Epub 2012 Nov 3.