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Fructose-1,6-bisphosphatase deficiency
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive centronuclear myopathy
Young adult-onset Parkinsonism
Argininosuccinic aciduria
Autosomal dominant macrothrombocytopenia
B-cell chronic lymphocytic leukemia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FBP1 P09467611570
No signs/symptoms info available.