Glycogen storage disease type IV

GPTKB entity

Statements (24)
Predicate Object
gptkbp:instanceOf genetic disorder
glycogen storage disease
gptkbp:affects gptkb:skeletal_muscle
gptkb:nervous_system
liver
gptkbp:alsoKnownAs gptkb:Andersen_disease
gptkbp:category metabolic disorder
gptkbp:deficiencyCauses glycogen branching enzyme
gptkbp:firstDescribed gptkb:Dorothy_Hansine_Andersen
1956
https://www.w3.org/2000/01/rdf-schema#label Glycogen storage disease type IV
gptkbp:ICD-10_code E74.0
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:GBE1_gene
gptkbp:OMIM 232500
gptkbp:prevalence rare
gptkbp:symptom cirrhosis
hypotonia
muscle weakness
failure to thrive
hepatosplenomegaly
gptkbp:treatment liver transplantation
gptkbp:bfsParent gptkb:Glycogen_branching_enzyme
gptkbp:bfsLayer 6