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ONTOLOGY REPORT - ANNOTATIONS
Term:hereditary fructose intolerance syndrome
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Accession:DOID:9869 term browser browse the term
Definition:An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.
Synonyms:exact_synonym: ALDOB Deficiency;   ALDOB deficiencies;   Aldolase B Deficiencies;   Aldolase B Deficiency;   Fructose 1 Phosphate Aldolase Deficiency;   Fructose 1,6 Biphosphate Aldolase Deficiency;   Fructose 1,6 Bisphosphate Aldolase B Deficiency;   Fructose Aldolase B Deficiency;   Fructose Intolerances;   Fructose-1,6-Biphosphate Aldolase Deficiencies;   Fructose-1-Phosphate Aldolase Deficiencies;   Fructosemia;   Fructosemias;   Hereditary Fructose Intolerance;   fructosaemia;   fructose intolerance;   hereditary fructose intolerances
 primary_id: MESH:D005633
 alt_id: OMIM:229600;   RDO:0003062
 xref: ICD10CM:E74.12;   ICD9CM:271.2;   NCI:C84720
For additional species annotation, visit the Alliance of Genome Resources.

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hereditary fructose intolerance syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:13673876
G Aldob aldolase, fructose-bisphosphate B JBrowse link 5 64,805,772 64,818,813 RGD:1599063
RGD:8554872
RGD:1300369
RGD:7240710
RGD:11554173
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Khk ketohexokinase JBrowse link 6 26,810,577 26,821,013 RGD:13673910
Term paths to the root
Path 1
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  disease 15603
    syndrome 5215
      hereditary fructose intolerance syndrome 4
Path 2
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  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          inherited metabolic disorder 1877
            carbohydrate metabolic disorder 326
              Fructose Metabolism, Inborn Errors 6
                hereditary fructose intolerance syndrome 4
paths to the root

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