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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO RGD PMID:25637246 RGD:13673876 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldob aldolase, fructose-bisphosphate B susceptibility ISO ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency
ClinVar Annotator: match by term: Fructose intolerance
ClinVar Annotator: match by term: Hereditary fructose intolerance
ClinVar Annotator: match by OMIM:229600
CTD Direct Evidence: marker/mechanism
PMID:1856829, PMID:1967768, PMID:2203259, PMID:2336380, PMID:2349937, PMID:2623136, PMID:3383242, PMID:6348085, PMID:7717389, PMID:8071980, PMID:8096362, PMID:8299883, PMID:8299892, PMID:8438046, PMID:8535439, PMID:8541450, PMID:9610797, PMID:10024431, PMID:10229688, PMID:10352930, PMID:10625657, PMID:10970798, PMID:11757579, PMID:12205126, PMID:12417303, PMID:12464284, PMID:15532022, PMID:15733923, PMID:15880727, PMID:16406649, PMID:16630753, PMID:18035330, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20848650, PMID:20882353, PMID:21228398, PMID:22494545, PMID:22995991, PMID:23114028, PMID:23430936, PMID:24033266, PMID:25525159, PMID:25595217, PMID:25741868, PMID:26633542, PMID:26677512, PMID:26937407, PMID:27797444, PMID:28492532, PMID:30311386, PMID:31591370, PMID:32860008, PMID:15532022, PMID:8096362 RGD:1599063, RGD:1300369 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Hereditary fructose intolerance ClinVar PMID:20096397, PMID:22402862, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23663589, PMID:23670307, PMID:24033266, PMID:25741868, PMID:25891276, PMID:28492532 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Fructose intolerance ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Khk ketohexokinase treatment ISO RGD PMID:29533924 RGD:13673910 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      hereditary fructose intolerance syndrome 5
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              Fructose Metabolism, Inborn Errors 7
                hereditary fructose intolerance syndrome 5
paths to the root


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