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Ontology Browser

Term:
glycogen storage disease III (DOID:2748)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
congenital disorder of glycosylation It  
Danon disease  
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
glycogen storage disease II +   
glycogen storage disease III +   
An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
glycogen storage disease IV +   
glycogen storage disease IX +   
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
glycogen storage disease VIII 
Glycogen Storage Disease XI  
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
lethal congenital glycogen storage disease of heart  
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  

Synonyms
Exact Synonyms: AGL DEFICIENCY ;   Amylo 1,6 Glucosidase Deficiency ;   Cori Disease ;   Cori's Disease ;   Coris Disease ;   Debrancher Deficiencies ;   Debrancher Deficiency ;   Forbes Disease ;   GSD3 ;   Glycogen Debrancher Deficiencies ;   Glycogen Debrancher Deficiency ;   Glycogen Debranching Enzyme Deficiency ;   Glycogen Storage Disease Type 3 ;   Glycogen Storage Disease, Type IIIb ;   Glycogenosis 3 ;   Limit Dextrinoses ;   amylo-1,6-glucosidase deficiencies ;   deficiency of debranching enzyme ;   deficiency of dextrin ;   glycogen storage disease type III ;   limit dextrinosis
Narrow Synonyms: GLYCOGEN STORAGE DISEASE IIIb ;   GLYCOGEN STORAGE DISEASE IIIc ;   GLYCOGEN STORAGE DISEASE IIId ;   GSD IIIb ;   GSD IIIc ;   GSD IIId
Primary IDs: MESH:D006010
Alternate IDs: OMIM:232400
Xrefs: GARD:9442 ;   ICD10CM:E74.03 ;   NCI:C84736 ;   ORDO:366
Definition Sources: MESH:D006010

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.