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
|