Glycogen Storage Disease X (GSD10)
Alias:
Myopathy Due to Phosphoglycerate Mutase Deficiency
Muscle Phosphoglycerate Mutase Deficiency
Glycogen Storage Disease Type X
Pgamm Deficiency
Gsd10
Gsd X
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency
Glycogenosis Due to Phosphoglycerate Mutase Deficiency
Gsd Due to Phosphoglycerate Mutase Deficiency
Gsd Type 10
Phosphoglycerate Mutase, Muscle, Deficiency of
Phosphoglycerate Mutase Deficiency
Deficiency Mutase Phosphoglycerate
Storage Disease, Glycogen, Type X
Glycogen Storage Disease 10
Pgam Deficiency
Gsdx
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease X, also known as myopathy due to phosphoglycerate mutase deficiency, is related to glycogen storage disease v and glycogen storage disease vii, and has symptoms including myalgia An important gene associated with Glycogen Storage Disease X is PGAM2 (Phosphoglycerate Mutase 2). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are myopathy and renal insufficiency
Related ID:
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
2
9
17
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Mutations
No data available
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No data available
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Category
Name
MGI
Related Gene
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No data available
References Literature
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PMID
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IF
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Comparison
Al agent
Sources
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