ZFIN Human Disease: glycogen storage disease IV

OBO ID: DOID:2750

Term Name:	glycogen storage disease IV		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease glycogen storage disease autosomal recessive disease glycogen storage disease Show first 5 Terms

OTHER glycogen storage disease IV PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GBE1	gbe1a gbe1b	Glycogen storage disease IV	232500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None