Disorder "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"
Found 1 record
Disorder information
Disorder name:
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Disoder ID:
OMIM entry:
Synonyms:
GSD due to muscle glycogen phosphorylase deficiency, GSD type 5, Glycogenosis due to muscle glycogen phosphorylase deficiency, McArdle disease, Glycogen storage disease type 5, Glycogen storage disease type V, Myophosphorylase deficiency, Glycogenosis type 5, GSD type V, Glycogenosis type V
Definition:
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MSTN | MSTN:rs1805086 | Expressivity | Altered severity | P<0.05 | Peak cardiorespiratory capacity was very low in all K153R carriersmore | more |
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