DISEASES

Disease-gene associations mined from literature

Human genes for hereditary fructose intolerance syndrome

Hereditary fructose intolerance syndrome [DOID:9869]

A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.

Synonyms:  hereditary fructose intolerance syndrome,  DOID:9869,  hereditary fructose intolerance disease,  hereditary fructose intolerance disorder,  familial fructose intolerance syndrome ...

Linkouts:  OMIM