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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Glycogen storage disease due to aldolase A deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1F

ALDOA TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALDOA
(0.63)
TNPO3



Citations in the biomedical literature:


Glycogen storage disease due to aldolase A deficiency
ALDOA
Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3



Glycogen storage disease due to aldolase A deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1F

Synonym(s):
- GSD due to aldolase A deficiency
- GSD type 12
- Glycogen storage disease type 12
- Glycogenosis due to aldolase A deficiency
- Glycogenosis type 12

Synonym(s):
- LGMD1F

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: no data available
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.