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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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:Fructose Metabolism, Inborn Errors
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Accession:DOID:9000875 term browser browse the term
Definition:Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
Synonyms:primary_id: MESH:D015318;   RDO:0004002
For additional species annotation, visit the Alliance of Genome Resources.


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essential fructosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cgref1 cell growth regulator with EF hand domain 1 ISO ClinVar Annotator: match by term: Fructosuria, essential ClinVar PMID:28492532 NCBI chr 6:26,797,126...26,809,132
Ensembl chr 6:26,797,126...26,809,129
JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Fructosuria, essential
ClinVar Annotator: match by OMIM:229800
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7833921 PMID:9799106 PMID:18035330 PMID:19237742 PMID:28492532, PMID:29870677 RGD:13782360 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
JBrowse link
fructose-1,6-bisphosphatase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar 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: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:31591370 PMID:32860008 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: Fructose-biphosphatase deficiency 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 Fbp1 fructose-bisphosphatase 1 ISO DNA:insertion, DNA:point mutations:G164S, A177D, Q30X
ClinVar Annotator: match by term: Fructose-biphosphatase deficiency
ClinVar Annotator: match by OMIM:229700
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7763253 PMID:9382095 PMID:11286391 PMID:12126934 PMID:20096900 PMID:23881342 PMID:25601412 PMID:25741868 PMID:27101822 PMID:28420223 PMID:28492532 PMID:28776561 PMID:29016355 PMID:29774539 PMID:29774540 PMID:29774541 PMID:29774542 PMID:29774543 PMID:29774544 PMID:29774545, PMID:7763253 RGD:1601165 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
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
ClinVar
OMIM
CTD
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: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 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 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        inherited metabolic disorder 2234
          carbohydrate metabolic disorder 399
            Fructose Metabolism, Inborn Errors 6
              essential fructosuria 2
              fructose-1,6-bisphosphatase deficiency + 3
              hereditary fructose intolerance syndrome 4
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            carbohydrate metabolic disorder 399
              Fructose Metabolism, Inborn Errors 6
                essential fructosuria 2
                fructose-1,6-bisphosphatase deficiency + 3
                hereditary fructose intolerance syndrome 4
paths to the root