glycogen storage disease IV

Term ID

DOID:2750

Synonyms

• Amylopectinosis
• brancher deficiency glycogenosis
• Branching-transferase deficiency glycogenosis
• deficiency of 1,4-alpha-glucan branching enzyme
• Glycogen storage disease 4
• Glycogen storage disease, type IV

Definition

A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. https://pubmed.ncbi.nlm.nih.gov/17915577/

References

• GARD:2520
• ICD10CM:E74.09
• MESH:D006011
• NCI:C84737
• OMIM:232500
• SNOMEDCT_US_2023_03_01:11179002
• UMLS_CUI:C0017923

Ontology

Human Disease   ( DOID:2750 )