Human disease
glycogen storage disease due to muscle and heart glycogen synthase deficiency
Mondo defines it as: “A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.”
1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 1158 | Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis | OMIA's OMIM numbers | 4 | Human disease |
15.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
Open Targets links none of these groups' human genes to this disease.
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
No drug has been tested for this disease.