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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:30311386, 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:25326637, 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
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
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: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 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        inherited metabolic disorder 2238
          carbohydrate metabolic disorder 393
            Fructose Metabolism, Inborn Errors 7
              essential fructosuria 2
              fructose-1,6-bisphosphatase deficiency + 4
              hereditary fructose intolerance syndrome 5
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            carbohydrate metabolic disorder 393
              Fructose Metabolism, Inborn Errors 7
                essential fructosuria 2
                fructose-1,6-bisphosphatase deficiency + 4
                hereditary fructose intolerance syndrome 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.