ZFIN Human Disease: glycogen storage disease V

OBO ID: DOID:2746

Term Name:	glycogen storage disease V		Search Ontology:
Synonyms:	Glycogen storage disease 5 glycogen storage disease type V Glycogen storage disease, type V McArdle's disease myophosphorylase deficiency
Definition:	A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/
References:	GARD:6528 ICD10CM:E74.04 MESH:D006012 NCI:C84738 OMIM:232600 ORDO:368 SNOMEDCT_US_2023_03_01:55912009 UMLS_CUI:C0017924
Ontology:	Human Disease ( DOID:2746 )

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 V PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PYGM	pygma pygmb	McArdle disease	232600

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO1-pygma + MO1-pygmb	standard conditions	Migocka-Patrzałek et al., 2019

PHENOTYPE No data available

CITATIONS (1)