glycogen storage disease XV

Summary
Synonym
  • Glycogen storage disease 15
  • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
  • glycogen storage disease type XV
Definition
A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
Super Class
autosomal recessive disease glycogen storage disease
External Links
Disease Ontology
DOID:0050579
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2992 GYG1 glycogenin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
27357 Gyg1 glycogenin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
81675 Gyg1 glycogenin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
37419 Gyg Glycogenin
Displaying all 2 entries
Gene ID Gene Symbol Description Source
406831 gyg1a glycogenin 1a
415152 gyg1b glycogenin 1b
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
394883 gyg1 glycogenin 1 Xenopus tropicalis (tropical clawed frog)
446485 gyg1.S glycogenin 1 S homeolog Xenopus laevis (African clawed frog)
779133 gyg1.L glycogenin 1 L homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
180119 gyg-2 glycogenin glucosyltransferase
180644 gyg-1 Glycogenin-1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
853304 GLG2 glycogenin glucosyltransferase GLG2
853932 GLG1 glycogenin glucosyltransferase GLG1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P46976 Glycogenin-1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 27 in total
HPO ID HPO Term
HP:0002875 Exertional dyspnea
HP:0009023 Abdominal wall muscle weakness
HP:0001663 Ventricular fibrillation
HP:0011712 Right bundle branch block
HP:0003547 Shoulder girdle muscle weakness
HP:0000821 Hypothyroidism
HP:0010872 T-wave inversion
HP:0003458 EMG: myopathic abnormalities
HP:0012270 Decreased muscle glycogen content
HP:0001962 Palpitations
Displaying 1 entry
Gene ID Gene Symbol Description
2992 GYG1 glycogenin 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024