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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
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:


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
PYGM



Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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 -
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


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)