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Ontology Browser

Term:
glycogen storage disease IV (DOID:2750)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
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 +   
glycogen storage disease IV +   
An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
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: Amylopectinosis ;   Andersen Disease ;   Andersen's Disease ;   Andersens Disease ;   Brancher Deficiencies ;   Brancher Deficiency ;   Branching-transferase deficiency glycogenosis ;   GSD IV ;   GSD due to glycogen branching enzyme deficiency ;   GSD4 ;   Gbe1 Deficiencies ;   Gbe1 Deficiency ;   Glycogen Branching Enzyme Deficiency ;   Glycogen Storage Disease Type 4 ;   Glycogenosis 4 ;   Glycogenosis IV ;   Type IV Glycogenoses ;   amylopectinoses ;   brancher deficiency glycogenosis ;   deficiency of 1,4-alpha-glucan branching enzyme ;   glycogen storage disease due to glycogen branching enzyme deficiency ;   glycogen storage disease type IV ;   glycogenosis type IV
Narrow Synonyms: CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC ;   GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY ;   GSD IV, NEUROMUSCULAR FORM, CHILDHOOD ;   GSD IV, NEUROMUSCULAR FORM, CONGENITAL ;   GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL ;   GSD IV, NONPROGRESSIVE HEPATIC
Broad Synonyms: GBE1-RELATED DISORDER ;   GBE1-RELATED DISORDERS
Primary IDs: MESH:D006011
Alternate IDs: OMIM:232500
Xrefs: GARD:2520 ;   NCI:C84737 ;   ORDO:367
Definition Sources: MESH:D006011

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