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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Progeria-associated arthropathy

PYGM LMNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PYGM
(0.63)
LMNA



Citations in the biomedical literature:


Glycogen storage disease due to muscle glycogen phosphorylase deficiency
PYGM
Progeria-associated arthropathy
LMNA



Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Progeria-associated arthropathy

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
2 MeSH references: C537276 / D006012
External references:
No OMIM references
No MeSH references

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

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


Progeria-associated arthropathy

(no data available)