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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Parkinsonian-pyramidal syndrome
Glycogen storage disease due to LAMP-2 deficiency

FBXO7 LAMP2
SNCA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SNCA
(0.63)
LAMP2



Citations in the biomedical literature:


Parkinsonian-pyramidal syndrome
FBXO7 SNCA
Glycogen storage disease due to LAMP-2 deficiency
LAMP2



Parkinsonian-pyramidal syndrome
Glycogen storage disease due to LAMP-2 deficiency

Synonym(s):
- Pallidopyramidal syndrome

Synonym(s):
- Danon disease
- GSD due to LAMP-2 deficiency
- Glycogenosis due to LAMP-2 deficiency
- Lysosomal glycogen storage disease with normal acid maltase activity

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- 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: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: x-linked recessive

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Glycogen storage disease due to LAMP-2 deficiency

Very frequent
- Abnormal gait
- Cardiomyopathy / hypertrophic / dilated
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle weakness / flaccidity
- X-linked recessive inheritance



Parkinsonian-pyramidal syndrome

(no data available)