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Fructose-1,6-bisphosphatase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant macrothrombocytopenia
3 OMIM references -
4 associated genes
No signs/symptoms info
Fructose-1,6-bisphosphatase deficiency
Autosomal dominant macrothrombocytopenia

FBP1
(UniProt - OMIM)
 ACTN1
(UniProt - OMIM)
ITGA2B
(UniProt - OMIM)
ITGB3
(UniProt - OMIM)
TUBB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FBP1
(0.63)
ACTN1


Citations in the biomedical literature:


Fructose-1,6-bisphosphatase deficiency
FBP1
Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1



Fructose-1,6-bisphosphatase deficiency
Autosomal dominant macrothrombocytopenia

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.