Glycogen Storage Disease Type IV
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
glycogen storage disease |
| gptkbp:affects |
glycogen branching enzyme
|
| gptkbp:alsoKnownAs |
gptkb:Andersen_disease
|
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| 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:result |
abnormal glycogen structure
|
| gptkbp:symptom |
liver cirrhosis
failure to thrive hepatosplenomegaly muscle hypotonia progressive liver dysfunction |
| gptkbp:treatment |
liver transplantation
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease
gptkb:Glycogen_Branching_Enzyme_Deficiency |
| gptkbp:bfsLayer |
6
|