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Details
Link-It Detail - Disease - Fructose Intolerance
Debug Stats
  • ### Total Build Time: 31 ms 23.417 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 694 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 570 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.866 KB
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 13.333 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 4.280 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Fructose Intolerance C0016751
Definition (1)
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; 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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Fructose Metabolism, Inborn Errors C0016752
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Fructose Metabolism, Inborn Errors C0016752
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Fructose Metabolism, Inborn Errors C0016752
Relationships (41)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 35
diso_​to_​phen : 2


Relationships:
none : 3
alias_​of : 1
associated_​with : 3
classifies : 2
location_​of : 1
manifestation_​of : 27
mapped_​to : 4
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM8img Fructose-Bisphosphate Aldolase C0016762
DISO_to_ANATlocation_ofimg Blood C0005767
DISO_to_CHEMassociated_withimg Fructose C0016745
DISO_to_CHEMassociated_withimg Fructose-Bisphosphate Aldolase C0016762
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ACIDOSIS LACTIC C0001125
DISO_to_DISOmanifestation_ofimg Abdominal Pain C0000737
DISO_to_DISOmanifestation_ofimg Absent dental caries C2749640
DISO_to_DISOmapped_toimg Acquired fructose intolerance C1531694
DISO_to_DISOmanifestation_ofimg Aversion to sweets and fruit C2749639
DISO_to_DISOmanifestation_ofimg Caused by mutation in the aldolase B, fructose-bisphosphate gene (ALDOB, 612724.0001) C2749641
DISO_to_DISOmanifestation_ofimg Coma C0009421
DISO_to_DISOmapped_toimg Deficiency of fructokinase C0268160
DISO_to_DISOmapped_toimg Disorder of fructose metabolism C0342744
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOalias_ofimg Fructose Intolerance C0016751
DISO_to_DISOmapped_toimg Fructose-1,6-Diphosphatase Deficiency C0016756
DISO_to_DISOmanifestation_ofimg HYPERURICAEMIA C0740394
DISO_to_DISOmanifestation_ofimg HYPOPHOSPHATAEMIA C0085682
DISO_to_DISOmanifestation_ofimg Hypoglycemia C0020615
DISO_to_DISOmanifestation_ofimg Jaundice C0022346
DISO_to_DISOmanifestation_ofimg LETHARGIC C0023380
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanALDOB229aldolase B, fructose-bisphosphate
img GENERIF, Score=756, Pubmed Id: 15880727, UMLKSK CUI: C0016751
img GENERIF, Score=1000, Pubmed Id: 12417303, UMLKSK CUI: C0016751
img GENERIF, Score=1000, Pubmed Id: 17457694, UMLKSK CUI: C0016751
img GENERIF, Score=1000, Pubmed Id: 17955389, UMLKSK CUI: C0016751
img GENERIF, Score=756, Pubmed Id: 18541450, UMLKSK CUI: C0016751
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016751Fructose Intolerance0self