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Fructose-1,6-bisphosphatase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive centronuclear myopathy
1 OMIM reference -
2 associated genes
No signs/symptoms info
Fructose-1,6-bisphosphatase deficiency
Autosomal recessive centronuclear myopathy

FBP1
(UniProt - OMIM)
 BIN1
(UniProt - OMIM)
TTN
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FBP1
(0.78)
BIN1


Citations in the biomedical literature:


Fructose-1,6-bisphosphatase deficiency
FBP1
Autosomal recessive centronuclear myopathy
BIN1 TTN



Fructose-1,6-bisphosphatase deficiency
Autosomal recessive centronuclear myopathy

Synonym(s):
(no synonyms)

Synonym(s):
- AR-CNM
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.