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Glycogen storage disease due to muscle glycogen phosphorylase deficiency
1 OMIM reference -
1 associated gene
40 connected diseases
5 signs/symptoms
Disease Type of connection
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
6q25 microdeletion syndrome
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2J
Charcot-Marie-Tooth disease type 2B1
Coffin-Siris syndrome
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Early-onset myopathy with fatal cardiomyopathy
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Heart-hand syndrome, Slovenian type
Hereditary proximal myopathy with early respiratory failure
Hutchinson-Gilford progeria syndrome
Intellectual deficit - sparse hair - brachydactyly
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Spondyloepiphyseal dysplasia tarda
Tibial muscular dystrophy
Synonym(s):
- GSD due to muscle glycogen phosphorylase deficiency
- GSD type 5
- Glycogen storage disease type 5
- Glycogenosis due to muscle glycogen phosphorylase deficiency
- Glycogenosis type 5
- McArdle disease
- Myophosphorylase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
2 MeSH references: C537276 / D006012
Gene symbol UniProt reference OMIM reference
PYGM P11217608455
Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance

Frequent
- Myopathy

Occasional
- Renal failure
- Structural anomalies of the cardio-circulatory system