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Ontology Browser
Term:
glycogen storage disease due to aldolase A deficiency (EFO:MONDO:0012747)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia 
anemia, nonspherocytic hemolytic, due to G6PD deficiency 
Charcot-Marie-Tooth disease type 4G 
congenital dyserythropoietic anemia +  
congenital nonspherocytic hemolytic anemia +  
cryohydrocytosis 
cutaneous porphyria 
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 
elliptocytosis 2 
familial pseudohyperkalemia 
glycogen storage disease due to aldolase A deficiency 
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 (triggered by fever) without hemolytic anemia has recently been reported.
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 
glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 
glycogen storage disease due to muscle beta-enolase deficiency 
glycogen storage disease due to phosphoglycerate kinase 1 deficiency 
glycogen storage disease due to phosphoglycerate mutase deficiency 
glycogen storage disease VII 
hemolytic anemia due to adenylate kinase deficiency 
hemolytic anemia due to diphosphoglycerate mutase deficiency 
hemolytic anemia due to erythrocyte adenosine deaminase overproduction 
hemolytic anemia due to glucophosphate isomerase deficiency 
hemolytic anemia due to glutathione reductase deficiency 
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 
hereditary cryohydrocytosis with reduced stomatin 
hereditary spherocytosis +  
hyperinsulinism due to glucokinase deficiency 
lactic aciduria due to D-lactic acid 
maturity-onset diabetes of the young +  
non-spherocytic hemolytic anemia due to hexokinase deficiency 
overhydrated hereditary stomatocytosis 
permanent neonatal diabetes mellitus +  
primary CD59 deficiency 
pyruvate kinase deficiency of red cells 
renal tubular acidosis, distal, 4, with hemolytic anemia 
Rh deficiency syndrome 
southeast Asian ovalocytosis 
triosephosphate isomerase deficiency 

Synonyms
Exact Synonyms: GSD due to aldolase A deficiency ;   GSD type 12 ;   GSD type XII ;   glycogen storage disease type 12 ;   glycogen storage disease type XII ;   glycogenosis due to aldolase A deficiency ;   glycogenosis type 12 ;   glycogenosis type XII
Related Synonyms: Aldoa deficiency ;   GSD 12 ;   GSD12 ;   aldolase a deficiency ;   aldolase deficiency red cell ;   glycogen storage disease 12 ;   glycogen storage disease XII
Alternate IDs: MONDO:0012747
Xrefs: GARD:600 ;   ICD9:282.3 ;   MEDGEN:82895 ;   MESH:C562718 ;   MIM:611881 ;   NANDO:1200834 ;   ORDO:57 ;   SCTID:111578003 ;   UMLS:C0272066 ;   icd11.foundation:1020924235
Definition Sources: Orphanet:57

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