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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
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

DNM2 PYGM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DNM2
(0.63)
PYGM



Citations in the biomedical literature:


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
DNM2
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
PYGM



Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Synonym(s):
- CMTDIB

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
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


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

(no data available)