Fructose Intolerance malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Liver diseases, Nephrological diseases, Metabolic diseases
50OMIM, 24Genetics Home Reference, 12diseasecard, 37MeSH, 46NIH Rare Diseases, 11Disease Ontology, 13DISEASES, 66UMLS, 23GeneTests, 22GeneReviews, 52Orphanet, 68UniProtKB/Swiss-Prot, 48Novoseek, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Fructose Intolerance:
Orphanet epidemiological data:52
hereditary fructose intolerance:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Gastrointestinal diseases, Liver diseases, Nephrological diseases
ICD10: 29 28
Rare gastroenterological diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism
NIH Rare Diseases:46 Hereditary fructose intolerance (hfi) is a metabolic disease caused by the absence of an enzyme called aldolase b. in people with hfi, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. hfi may be relatively mild or a very severe disease. the condition is caused by mutations in the aldob gene. it is inherited in an autosomal recessive pattern. treatment involves eliminating fructose and sucrose from the diet. in the severe form, eliminating these sugars from the diet may not prevent progressive liver disease. last updated: 8/20/2015
MalaCards based summary: Fructose Intolerance, also known as hereditary fructose intolerance, is related to acquired fructose intolerance and fructose-1,6-bisphosphatase deficiency, and has symptoms including abdominal pain, hepatomegaly and lethargy. An important gene associated with Fructose Intolerance is ALDOB (Aldolase, Fructose-Bisphosphate B), and among its related pathways are EBV LMP1 signaling and EGF receptor (ErbB1) signaling pathway. Affiliated tissues include liver, kidney and testes, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.
UniProtKB/Swiss-Prot:68 Hereditary fructose intolerance: Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life.
Genetics Home Reference:24 Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive).
OMIM:50 Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet.... (229600) more...
Wikipedia:69 Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency... more...
GeneReviews summary for NBK333439
HPO human phenotypes related to Fructose Intolerance:(show all 29)
UMLS symptoms related to Fructose Intolerance:abdominal pain, hepatomegaly, lethargy, nausea, seizures, vomiting, sucrose intolerance
Drugs for Fructose Intolerance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:(show all 22)
Search NIH Clinical Center for Fructose Intolerance
MalaCards organs/tissues related to Fructose Intolerance:34
Liver, Kidney, Testes, Colon
Articles related to Fructose Intolerance:(show top 50) (show all 73)
UniProtKB/Swiss-Prot genetic disease variations for Fructose Intolerance:68 (show all 16)
Clinvar genetic disease variations for Fructose Intolerance:5 (show all 22)
Search GEO for disease gene expression data for Fructose Intolerance.
Pathways related to Fructose Intolerance according to GeneCards Suite gene sharing:(show all 12)
Cellular components related to Fructose Intolerance according to GeneCards Suite gene sharing:
Biological processes related to Fructose Intolerance according to GeneCards Suite gene sharing:
Molecular functions related to Fructose Intolerance according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet