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

LMNA PYGM


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Laminopathy type Decaudain-Vigouroux
LMNA
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
PYGM



Laminopathy type Decaudain-Vigouroux
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Synonym(s):
- Laminopathy with severe metabolic syndrome and myopathy

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):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

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

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


Laminopathy type Decaudain-Vigouroux

(no data available)