glycogen storage disease XV
Findings
No curated finding names glycogen storage disease XV yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
Definition from the Mondo Disease Ontology (MONDO:0013291), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cardiomyocyte hypertrophyHPOHP:0031319
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Complete right bundle branch blockHPOHP:0011712
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Paroxysmal ventricular tachycardiaHPOHP:0004751
- 1 of 1 reported patient · Late young adult onset
- Scapular wingingHPOHP:0003691
- 1 of 1 reported patient · Late young adult onset
- ST segment elevationHPOHP:0012251
- 1 of 1 reported patient · Early young adult onset
Show the remaining 14
- Decreased muscle glycogen contentHPOHP:0012270
- Frequent (30% to 79% of cases)
- Decreased muscle massHPOHP:0003199
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Exertional dyspneaHPOHP:0002875
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- Increased mitochondrial numberHPOHP:0040014
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GYG1HGNC:4699
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: glycogen storage disease XV
- Also called
- glycogen storage disease type 15glycogen storage disease type XVglycogenosis type 15glycogenosis type XVglycogenosis with severe cardiomyopathy due to glycogenin deficiencyGSD type 15GSD type XVGSD with severe cardiomyopathy due to glycogenin deficiency