MCID: HRD013
MIFTS: 30

Hereditary Fructose Intolerance Syndrome malady

Gastrointestinal, Liver, Nephrological, Metabolic categories

Summaries for Hereditary Fructose Intolerance Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 progressive liver damage. in addition, blocked processing of fructose will cause a build-up of substances that damage the liver. hfi may be relatively mild or a very severe disease, and 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: 3/17/2009

MalaCards: Hereditary Fructose Intolerance Syndrome, also known as hereditary fructose intolerance, is related to acquired fructose intolerance and fructosuria. An important gene associated with Hereditary Fructose Intolerance Syndrome is ALDOB (aldolase B, fructose-bisphosphate), and among its related pathways are Carbon metabolism and Pentose phosphate pathway. The compounds fructose-1,6-bisphosphate and fructose have been mentioned in the context of this disorder. Affiliated tissues include liver.

Genetics Home Reference:21 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).

Description from OMIM:47 229600

Aliases & Classifications for Hereditary Fructose Intolerance Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal, Liver, Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
hereditary fructose intolerance:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

hereditary fructose intolerance syndrome 8 10 61
hereditary fructose intolerance 43 21 45 49
aldolase b deficiency 43 21 61
fructose-1,6-bisphosphate aldolase b deficiency 8 43
fructose-1-phosphate aldolase deficiency 43 21
fructose intolerance, hereditary 43 20
fructose intolerance 21 47
aldob deficiency 43 21
fructosemia 8 21
hereditary fructose-1-phosphate aldolase deficiency 49
fructose-1,6-biphosphate aldolase deficiency 21
fructose aldolase b deficiency 21
hereditary fructosemia 49
fructosaemia 8


External Ids:

Disease Ontology8 DOID:9869
MeSH35 D005633
ICD9CM27 271.2
NCIt40 C84720
OMIM47 229600
MESH via Orphanet36 D005633
ICD10 via Orphanet26 E74.1
SNOMED-CT via Orphanet58 20052008

Related Diseases for Hereditary Fructose Intolerance Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hereditary Fructose Intolerance Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1acquired fructose intolerance10.6
2fructosuria10.4
3fructosuria, essential10.4
4fructose-1,6-bisphosphatase deficiency10.3
5reye syndrome10.2
6hyperuricemia10.2
7fatty liver disease10.2
8fanconi syndrome10.2
9cystinosis10.2
10duchenne muscular dystrophy10.2
11renal tubular acidosis10.2
12hereditary hyperuricemia10.2
13glycogen storage disease i10.1
14hepatitis10.0ALDOB
15serine deficiency10.0SUOX, TALDO1
16metabolic syndrome x10.0SUOX, TALDO1

Graphical network of diseases related to Hereditary Fructose Intolerance Syndrome:



Diseases related to hereditary fructose intolerance syndrome

Clinical Features for Hereditary Fructose Intolerance Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

229600

Clinical synopsis from OMIM:

229600

Drugs & Therapeutics for Hereditary Fructose Intolerance Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Fructose Intolerance Syndrome

Drug clinical trials:

Search ClinicalTrials for Hereditary Fructose Intolerance Syndrome

Search NIH Clinical Center for Hereditary Fructose Intolerance Syndrome

Search CenterWatch for Hereditary Fructose Intolerance Syndrome

Genetic Tests for Hereditary Fructose Intolerance Syndrome

Sources:
20GeneTests
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Genetic tests related to Hereditary Fructose Intolerance Syndrome:

id Genetic test Affiliating Genes
1 Hereditary Fructose Intolerance20 ALDOB

Anatomical Context for Hereditary Fructose Intolerance Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Fructose Intolerance Syndrome:

33
Liver

Animal Models for Hereditary Fructose Intolerance Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hereditary Fructose Intolerance Syndrome

Sources:
51PubMed
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Articles related to Hereditary Fructose Intolerance Syndrome:

idTitleAuthorsYear
1
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. (11021009)
2000
2
An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. (5658593)
1968

Genetic Variations for Hereditary Fructose Intolerance Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Fructose Intolerance Syndrome:

63 (show all 14)
id Symbol AA change Variation SNP ID
1ALDOBp.Cys135ArgVAR_000551
2ALDOBp.Ala150ProVAR_000553rs1800546
3ALDOBp.Ala175AspVAR_000554rs76917243
4ALDOBp.Leu257ProVAR_000555
5ALDOBp.Arg304TrpVAR_000556
6ALDOBp.Asn335LysVAR_000557
7ALDOBp.Ala338ValVAR_000558
8ALDOBp.Ile74ThrVAR_020822
9ALDOBp.Pro185ArgVAR_020824
10ALDOBp.Val222PheVAR_020826
11ALDOBp.Leu229ProVAR_020827
12ALDOBp.Arg304GlnVAR_020828rs145078268
13ALDOBp.Cys178ArgVAR_058211
14ALDOBp.Leu284ProVAR_058212

Expression for genes affiliated with Hereditary Fructose Intolerance Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Fructose Intolerance Syndrome

Search GEO for disease gene expression data for Hereditary Fructose Intolerance Syndrome.

Pathways for genes affiliated with Hereditary Fructose Intolerance Syndrome

Sources:
30KEGG, 54Reactome
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Pathways related to Hereditary Fructose Intolerance Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3ALDOB, TALDO1
29.3ALDOB, TALDO1
3
Hide members
9.3ALDOB, TALDO1
4
Hide members
8.5ALDOB, SUOX, TALDO1

Compounds for genes affiliated with Hereditary Fructose Intolerance Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Hereditary Fructose Intolerance Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fructose-1,6-bisphosphate459.5ALDOB, TALDO1
2fructose45 1110.4ALDOB, TALDO1
3mannitol45 1110.3TALDO1, ALDOB
4glyceraldehyde 3-phosphate459.2ALDOB, TALDO1
5hydrogen45 2410.1SUOX, TALDO1
6pyruvate459.0ALDOB, TALDO1
7lactate458.6ALDOB, SUOX, TALDO1

GO Terms for genes affiliated with Hereditary Fructose Intolerance Syndrome

Sources:
16Gene Ontology
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Biological processes related to Hereditary Fructose Intolerance Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:0059759.3ALDOB, TALDO1
2small molecule metabolic processGO:0442818.2ALDOB, SUOX, TALDO1

Products for genes affiliated with Hereditary Fructose Intolerance Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Fructose Intolerance Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet