MCID: HRD013
MIFTS: 42

Hereditary Fructose Intolerance Syndrome malady

Gastrointestinal diseases, Liver diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Hereditary Fructose Intolerance Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 fructose-1,6-bisphosphatase deficiency. 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:46 229600

Aliases & Classifications for Hereditary Fructose Intolerance Syndrome

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Sources:
8Disease Ontology, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 20GeneTests, 46OMIM, 56SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 60
hereditary fructose intolerance 42 21 44 48
aldolase b deficiency 42 21 60
fructose-1,6-bisphosphate aldolase b deficiency 8 42
fructose-1-phosphate aldolase deficiency 42 21
fructose intolerance, hereditary 42 20
fructose intolerance 21 46
aldob deficiency 42 21
fructosemia 8 21
hereditary fructose-1-phosphate aldolase deficiency 48
fructose-1,6-biphosphate aldolase deficiency 21
fructose aldolase b deficiency 21
hereditary fructosemia 48
fructosaemia 8


External Ids:

Disease Ontology8 DOID:9869
MeSH34 D005633
ICD9CM27 271.2
NCIt39 C84720
OMIM46 229600
MESH via Orphanet35 D005633
ICD10 via Orphanet26 E74.1

Related Diseases for Hereditary Fructose Intolerance Syndrome

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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 18)
idRelated DiseaseScoreTop Affiliating Genes
1acquired fructose intolerance10.6
2fructose-1,6-bisphosphatase deficiency10.3
3hyperuricemia10.2
4fatty liver disease10.2
5fanconi syndrome10.2
6cystinosis10.2
7duchenne muscular dystrophy10.2
8renal tubular acidosis10.2
9liver disease10.2
10muscular dystrophy10.2
11glycogen storage disease iv10.1
12tay-sachs disease10.1
13glycogen storage disease10.1
14congenital disorder of glycosylation10.0
15galactosemia10.0
16hepatitis10.0ALDOB
17serine deficiency10.0SUOX, TALDO1
18metabolic 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

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46OMIM
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Clinical features from OMIM:

229600

Clinical synopsis from OMIM:

229600

Drugs & Therapeutics for Hereditary Fructose Intolerance Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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32MalaCards
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MalaCards organs/tissues related to Hereditary Fructose Intolerance Syndrome:

32
Liver

Animal Models for Hereditary Fructose Intolerance Syndrome or affiliated genes

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Publications for Hereditary Fructose Intolerance Syndrome

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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Fructose Intolerance Syndrome:

62 (show all 14)
id Symbol AA change Variation ID 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

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

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Pathways for genes affiliated with Hereditary Fructose Intolerance Syndrome

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29KEGG, 53Reactome
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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

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Hereditary Fructose Intolerance Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fructose-1,6-bisphosphate449.5ALDOB, TALDO1
2fructose44 1110.4ALDOB, TALDO1
3mannitol44 1110.3TALDO1, ALDOB
4glyceraldehyde 3-phosphate449.2ALDOB, TALDO1
5hydrogen44 2410.1SUOX, TALDO1
6pyruvate449.0ALDOB, TALDO1
7lactate448.6ALDOB, SUOX, TALDO1

GO Terms for genes affiliated with Hereditary Fructose Intolerance Syndrome

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Fructose Intolerance Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet