MCID: FRC002

Fructose Intolerance malady

Summaries for Fructose Intolerance

Sources:
17Genetics Home Reference, 33OMIM, 22MalaCards
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Genetics Home Reference: 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).17

MalaCards: Fructose Intolerance, also known as hereditary fructose intolerance syndrome, is related to hereditary fructose intolerance syndrome and aldolase a deficiency. An important gene associated with Fructose Intolerance is ALDOB (aldolase B, fructose-bisphosphate), and among its related pathways are Glycolysis and Pentose phosphate pathway. The compounds 1,6-Fructose Diphosphate (Linear Form) and 1,3-Dihydroxyacetonephosphate have been mentioned in the context of this disorder. Affiliated tissues include liver.

OMIM: 229600

Aliases & Descriptions for Fructose Intolerance

Sources:
43UMLS, 7diseasecard, 33OMIM
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fructose intolerance 7 33
hereditary fructose intolerance syndrome 43

Related Diseases for Fructose Intolerance

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13GeneCards, 14GeneDecks
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Diseases related to fructose intolerance by text searches and GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary fructose intolerance syndrome34.0MANBA, SUOX
2aldolase a deficiency11.8ALDOA, ALDOC, ALDOB
3eumycotic mycetoma11.6ALDOA, ALDOB, ALDOC
4acquired fructose intolerance8.7
5fructose-1,6-bisphosphatase deficiency6.6

Clinical Features for Fructose Intolerance

Sources:
33OMIM
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Clinical features from OMIM: 229600

Drugs & Therapeutics for Fructose Intolerance

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for fructose intolerance

Drug clinical trials:

Search ClinicalTrials for fructose intolerance

Search NIH Clinical Center for fructose intolerance

Search CenterWatch for fructose intolerance

Genetic Tests for Fructose Intolerance

Anatomical Context for Fructose Intolerance

Sources:
22MalaCards
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MalaCards organs/tissues related to fructose intolerance:

22
Liver

Phenotypes for genes affiliated with Fructose Intolerance

Publications for genes affiliated with Fructose Intolerance

Sources:
35PubMed
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Articles related to fructose intolerance:

(show all 43)
idTitleAuthorsYearAffiliating Genes
1Mutations in the promoter region of the aldolase B ge ne that cause hereditary fructose intolerance. (20882353)Coffee E.M.... Tolan D.R.2010ALDOB
2Increased prevalence of mutant null alleles that caus e hereditary fructose intolerance in the American population. (20033295)Coffee E.M.... Tolan D.R.2010ALDOB
3Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletio n. (20848650)Esposito G.... Salvatore F.2010ALDOB
4Adult hereditary fructose intolerance. (19452588)Yasawy M.I.... Schwend M.2009ALDOB
5Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. (18541450)Davit-Spraul A.... Baussan C.2008ALDOB
6Different genotypes in a large Italian family with re current hereditary fructose intolerance. (18188031)Caciotti A.... Morrone A.2008ALDOB
7Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. (17955389)Chi Z.N.... Ning G.2007ALDOB
8Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. (17457694)Adamowicz M.... Pronicka E.2007ALDOB
9Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance. (17292585)Kriegshauser G.... Oberkanins C.2007ALDOB
10Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. (16406649)Gruchota J.... Pl/oski R.2006ALDOB
11The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (15880727)Santer R.... Schneppenheim R.2005ALDOB
12Structure of the thermolabile mutant aldolase B, A149 P: molecular basis of hereditary fructose intolerance. (15733923)Malay A.D.... Tolan D.R.2005ALDOB
13Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. (15532022)Esposito G.... Salvatore F.2004ALDOB
14Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (12417303)Esposito G.... Salvatore F.2002ALDOB
15Simple method for detection of mutations causing hereditary fructose intolerance. (12638940)Kullberg-Lindh C.... Lindh M.2002ALDOB
16Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. (12205126)Sanchez-Gutierrez J.C.... Feliu J.E.2002ALDOB
17The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. (12464284)Malay A.D.... Tolan D.R.2002ALDOB
18Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. (11021009)Yang T.Y.... Chang M.H.2000ALDOB
19Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. (10970798)Santamaria R.... Salvatore F.2000ALDOB
20Screening for hereditary fructose intolerance mutations by reverse dot-blot. (10024431)Lau J.... Tolan D.R.1999ALDOB
21Alteration of substrate specificity by a naturally-oc curring aldolase B mutation (Ala337-->Val) in fructose intolerance. (10229688)Rellos P.... Cox T.M.1999ALDOB
22Hereditary fructose intolerance. (9610797)Ali M.... Cox T.M.1998ALDOB
23Hereditary fructose intolerance (10192989)Lopes A.I.... Leite M.1998ALDOB
24A newly identified aldolase B splicing mutation (G--& gt;C, 5' intron 5) in hereditary fructose intolerance from New Zealand. (8829634)Ali M.... Cox T.M.1996ALDOB
25Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (8535439)Tolan D.R.1995ALDOB
26Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (7717389)Ali M.... Cox T.M.1995ALDOB
27A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (8299883)Brooks C.C.... Tolan D.R.1994ALDOB
28Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. (8162030)Ali M.... Cox T.M.1994ALDOB
29Congenital fructose intolerance. New molecular aspec ts (7809888)Larsen K.... Ogreid D.1994ALDOB
30Aldolase B and fructose intolerance. (8299892)Cox T.M.1994ALDOB
31Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. (8071980)Ali M.... Cox T.M.1994ALDOB
32Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. (8096362)Brooks C.C.... Tolan D.R.1993ALDOB
33DNA diagnosis of fatal fructose intolerance from arch ival tissue. (8438046)Ali M.... Cox T.M.1993ALDOB
34Aldolase B mutations in Italian families affected by hereditary fructose intolerance. (1856829)Sebastio G.... Cox T.M.1991ALDOB
35Case report: heterogeneity of aldolase B in hereditary fructose intolerance. (1772121)Kaiser U.B.... Hegele R.A.1991ALDOB
36Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. (1928090)Brooks C.C.... Tolan D.R.1991ALDOB
37A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. (2336380)Cross N.C.P.... Cox T.M.1990ALDOB
38Molecular analysis of aldolase B genes in hereditary fructose intolerance. (1967768)Cross N.C.P.... Cox T.M.1990ALDOB
39Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. (2203259)Kajihara S.... Hori K.1990ALDOB
40Determination of fructose metabolic pathways in norma l and fructose-intolerant children: a 13C NMR study using [U-13C]fructose. (2371280)Gopher A.... Lapidot A.1990ALDOB
41Hereditary fructose intolerance. (2207353)Cox T.M.1990ALDOB
42Molecular evidence for compound heterozygosity in her editary fructose intolerance. (2339710)Dazzo C.... Tolan D.R.1990ALDOB
43Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. (3383242)Cross N.C.P.... Cox T.M.1988ALDOB

Expression for genes affiliated with Fructose Intolerance

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Fructose Intolerance

Pathways for genes affiliated with Fructose Intolerance

Sources:
38Reactome, 20KEGG, 10EMD Millipore, 41Thomson Reuters
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Compounds for genes affiliated with Fructose Intolerance

Sources:
9DrugBank, 32Novoseek , 18HMDB
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Compounds related to fructose intolerance according to GeneDecks:

idCompoundScoreTop Affiliating Genes
11,6-Fructose Diphosphate (Linear Form)9 9 10.6ALDOB, ALDOA
21,3-Dihydroxyacetonephosphate9 9 10.5ALDOB, ALDOA
3fructose-1,6-bisphosphate32 9.5ALDOA, ALDOB
4fructose32 9 9 11.4ALDOB, ALDOA
5pyruvate32 9.4ALDOB, ALDOA
6glyceraldehyde 3-phosphate32 9.1ALDOB, ALDOA
7fructose 1-phosphate32 18 10.1ALDOA, ALDOB, ALDOC
8zinc32 18 9.8ALDOC, ALDOB, ALDOA
9lactate32 8.6ALDOA, SUOX, ALDOB

GO Terms for genes affiliated with Fructose Intolerance

Sources:
12Gene Ontology
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Cellular components related to fructose intolerance according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.5MANBA, ALDOB
2cytosolGO:0058297.8ALDOA, ALDOB, ALDOC, SUOX

Biological processes related to fructose intolerance according to GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to organic cyclic compoundGO:0140709.5ALDOB, ALDOC
2fructose 1,6-bisphosphate metabolic processGO:0303889.1ALDOC, ALDOB, ALDOA
3fructose metabolic processGO:0060009.1ALDOC, ALDOA, ALDOB
4protein homotetramerizationGO:0512899.0ALDOA, ALDOC
5gluconeogenesisGO:0060949.0ALDOB, ALDOA, ALDOC
6glycolysisGO:0060969.0ALDOB, ALDOC, ALDOA
7glucose metabolic processGO:0060068.9ALDOC, ALDOA, ALDOB
8carbohydrate metabolic processGO:0059758.4MANBA, ALDOA, ALDOB, ALDOC
9small molecule metabolic processGO:0442818.0ALDOB, ALDOA, SUOX, ALDOC

Molecular functions related to fructose intolerance according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fructose bindingGO:0700619.4ALDOA, ALDOB
2fructose-bisphosphate aldolase activityGO:0043328.8ALDOA, ALDOB, ALDOC
3cytoskeletal protein bindingGO:0080928.6ALDOA, ALDOB, ALDOC

Sources for Fructose Intolerance

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS