Details of Disease

General Information of Disease (ID: DISTYB67)

• Disease Name: Glycogen storage disease due to aldolase A deficiency
• Synonyms: glycogen storage disease 12; GSD 12; aldolase deficiency, Red cell; aldolase deficiency red cell; glycogen storage disease XII; Red cell aldolase deficiency; GSD12; Aldoa deficiency; aldolase a deficiency; glycogenosis type 12; glycogenosis due to aldolase A deficiency; glycogen storage disease due to aldolase A deficiency; glycogen storage disease type 12; GSD type 12; GSD due to aldolase A deficiency; glycogen storage disease type XII; GSD type XII; glycogenosis type XII
• Definition: Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.
• Disease Hierarchy:
  DIS487SI: Hereditary haemolytic anemia
  DIS0Y78V: Anemia due to erythrocyte enzyme disorder
  DIS30PPZ: Disorder of glycolysis
  DISTYB67: Glycogen storage disease due to aldolase A deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0012747
  MESH ID: C562718
  UMLS CUI: C0272066
  OMIM ID: 611881
  MedGen ID: 82895
  Orphanet ID: 57
  SNOMED CT ID: 1187461004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDOA	OTWRFTIB	Definitive	Autosomal recessive	[1]

References

• [1] Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc Natl Acad Sci U S A. 1987 Dec;84(23):8623-7. doi: 10.1073/pnas.84.23.8623.