Details of Disease

General Information of Disease (ID: DISKE80D)

• Disease Name: Glycogen storage disease due to acid maltase deficiency, late-onset
• Synonyms: glycogen storage disease type 2, late onset; glycogen storage disease type 2, late-onset; Alpha-1,4-glucosidase acid deficiency, late-onset; GSD type II, late onset; Pompe disease, late-onset; Alpha-1,4-glucosidase acid deficiency, late onset; GSD due to acid maltase deficiency, late onset; glycogenosis type 2, late-onset; GSD type 2, late-onset; GSD due to acid maltase deficiency, late-onset; Pompe disease, late onset; glycogen storage disease type II, late-onset; glycogenosis type II, late onset; glycogenosis type 2, late onset; GSD type II, late-onset; glycogenosis type II, late-onset; glycogen storage disease type II, late onset; GSD type 2, late onset
• Definition: Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.
• Disease Hierarchy:
  DISXZPBC: Glycogen storage disease type II
  DISKE80D: Glycogen storage disease due to acid maltase deficiency, late-onset
• Disease Identifiers:
  MONDO ID: MONDO_0018485
  UMLS CUI: C0342753
  MedGen ID: 575206
  Orphanet ID: 420429
  SNOMED CT ID: 722343009

Molecular Interaction Atlas (MIA) of This Disease

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	Genetic Variation	[2]
MGAM	TTXWASR	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SI	DE5EO4Y	Strong	Genetic Variation	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELF3	OTUTLEQO	Limited	Genetic Variation	[4]
GAA	OT03PU29	Supportive	Autosomal recessive	[1]

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] Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.Chin Med J (Engl). 2018 Feb 20;131(4):448-453. doi: 10.4103/0366-6999.225056.
• [3] Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.Orphanet J Rare Dis. 2019 Mar 4;14(1):62. doi: 10.1186/s13023-019-1037-1.
• [4] Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.Mol Ther. 2018 Sep 5;26(9):2304-2314. doi: 10.1016/j.ymthe.2018.06.023. Epub 2018 Jul 5.