MCID: HRD013
MIFTS: 38

Hereditary Fructose Intolerance Syndrome malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Liver diseases, Nephrological diseases, Metabolic diseases categories
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Summaries for Hereditary Fructose Intolerance Syndrome

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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 based summary: Hereditary Fructose Intolerance Syndrome, also known as hereditary fructose intolerance, is related to acquired fructose intolerance and fructosuria, and has symptoms including An important gene associated with Hereditary Fructose Intolerance Syndrome is ALDOB (aldolase B, fructose-bisphosphate), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Carbon metabolism. The compounds D-Erythrose 4-phosphate and D-Glyceraldehyde 3-phosphate 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, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 27ICD9CM, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Hereditary Fructose Intolerance Syndrome, Aliases & Descriptions:

Name: Hereditary Fructose Intolerance Syndrome 8 10 62
Hereditary Fructose Intolerance 42 21 44 48
Fructose-1,6-Bisphosphate Aldolase B Deficiency 8 42 62
Aldolase B Deficiency 42 21 62
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


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


External Ids:

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

Related Diseases for Hereditary Fructose Intolerance Syndrome

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Diseases in the Hereditary Fructose Intolerance Syndrome family:

Acquired Fructose Intolerance

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1acquired fructose intolerance10.6
2fructosuria10.4
3fructose-1,6-bisphosphatase deficiency10.3
4duchenne muscular dystrophy10.3
5liver disease10.3
6renal tubular acidosis10.3
7hyperuricemia10.3
8cystinosis10.3
9fanconi syndrome10.3
10fatty liver disease10.3
11muscular dystrophy10.3
12glycogen storage disease10.2
13tay-sachs disease10.2
14congenital disorder of glycosylation10.1
15galactosemia10.1
16metabolic syndrome x9.8TALDO1, SUOX
17serine deficiency9.7TALDO1, SUOX

Graphical network of diseases related to Hereditary Fructose Intolerance Syndrome:



Diseases related to hereditary fructose intolerance syndrome

Symptoms for Hereditary Fructose Intolerance Syndrome

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Symptoms by clinical synopsis from OMIM:

229600

Clinical features from OMIM:

229600

HPO human phenotypes related to Hereditary Fructose Intolerance Syndrome:

(show all 30)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proximal tubulopathy HP:0000114
3 jaundice HP:0000952
4 intellectual disability HP:0001249
5 seizures HP:0001250
6 lethargy HP:0001254
7 coma HP:0001259
8 cirrhosis HP:0001394
9 hepatic steatosis HP:0001397
10 failure to thrive HP:0001508
11 metabolic acidosis HP:0001942
12 hypoglycemia HP:0001943
13 vomiting HP:0002013
14 nausea HP:0002018
15 abdominal pain HP:0002027
16 proximal renal tubular acidosis HP:0002049
17 hypophosphatemia HP:0002148
18 hyperuricemia HP:0002149
19 gastrointestinal hemorrhage HP:0002239
20 hepatomegaly HP:0002240
21 hyperbilirubinemia HP:0002904
22 elevated hepatic transaminases HP:0002910
23 glycosuria HP:0003076
24 hyperphosphaturia HP:0003109
25 lactic acidosis HP:0003128
26 hyperuricosuria HP:0003149
27 bicarbonaturia HP:0003646
28 malnutrition HP:0004395
29 fructose intolerance HP:0005973
30 transient aminoaciduria HP:0008273

Drugs & Therapeutics for Hereditary Fructose Intolerance Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hereditary Fructose Intolerance Syndrome

Search NIH Clinical Center for Hereditary Fructose Intolerance Syndrome

Genetic Tests for Hereditary Fructose Intolerance Syndrome

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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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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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Variations for Hereditary Fructose Intolerance Syndrome

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

64 (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

Clinvar genetic disease variations for Hereditary Fructose Intolerance Syndrome:

6 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1ALDOBNG_012387.1: g.7841_14288deldeletionPathogenicGRCh37Chr 9, 104188775: 104195222
2ALDOBNM_000035.3(ALDOB): c.136A> T (p.Arg46Trp)single nucleotide variantPathogenicrs41281039GRCh37Chr 9, 104192225: 104192225
3ALDOBNM_000035.3(ALDOB): c.1027T> C (p.Tyr343His)single nucleotide variantPathogenicrs369586696GRCh37Chr 9, 104184159: 104184159
4ALDOBNM_000035.3(ALDOB): c.448G> C (p.Ala150Pro)single nucleotide variantPathogenicrs1800546GRCh37Chr 9, 104189856: 104189856
5ALDOBNM_000035.3(ALDOB): c.524C> A (p.Ala175Asp)single nucleotide variantPathogenicrs76917243GRCh37Chr 9, 104189780: 104189780
6ALDOBNM_000035.3(ALDOB): c.865_867delCTT (p.Leu289del)deletionPathogenicrs118204425GRCh37Chr 9, 104187257: 104187259
7ALDOBNM_000035.3(ALDOB): c.357_360delAAAC (p.Asn120Lysfs)deletionPathogenicrs387906225GRCh37Chr 9, 104190770: 104190773
8ALDOBNM_000035.3(ALDOB): c.720C> A (p.Cys240Ter)single nucleotide variantPathogenicrs118204426GRCh37Chr 9, 104187814: 104187814
9ALDOBNM_000035.3(ALDOB): c.1005C> G (p.Asn335Lys)single nucleotide variantPathogenicrs78340951GRCh37Chr 9, 104184181: 104184181
10ALDOBALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8indelPathogenic
11ALDOBNM_000035.3(ALDOB): c.10C> T (p.Arg4Ter)single nucleotide variantPathogenicrs118204428GRCh37Chr 9, 104193160: 104193160
12ALDOBNM_000035.3(ALDOB): c.178C> T (p.Arg60Ter)single nucleotide variantPathogenicrs118204429GRCh37Chr 9, 104192183: 104192183
13ALDOBALDOB, IVS6AS, G-A, -1single nucleotide variantPathogenic
14ALDOBNM_000035.3(ALDOB): c.547_552delCTGGTA (p.Leu183_Val184del)deletionPathogenicrs387906226GRCh37Chr 9, 104188909: 104188914
15ALDOBNM_000035.3(ALDOB): c.442T> C (p.Trp148Arg)single nucleotide variantPathogenicrs118204430GRCh37Chr 9, 104189862: 104189862

Expression for genes affiliated with Hereditary Fructose Intolerance Syndrome

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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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Pathways related to Hereditary Fructose Intolerance Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3TALDO1, ALDOB
2
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.3TALDO1, ALDOB
3
Show member pathways
pentose phosphate pathway (non-oxidative branch)37
pentose phosphate pathway37
PRPP biosynthesis37
9.3TALDO1, ALDOB
4
Show member pathways
8.5TALDO1, ALDOB, SUOX

Compounds for genes affiliated with Hereditary Fructose Intolerance Syndrome

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR
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Compounds related to Hereditary Fructose Intolerance Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1D-Erythrose 4-phosphate249.6ALDOB, TALDO1
2D-Glyceraldehyde 3-phosphate249.6ALDOB, TALDO1
3fructose-1,6-bisphosphate449.6ALDOB, TALDO1
4fructose44 1110.5TALDO1, ALDOB
5mannitol44 1110.5ALDOB, TALDO1
6glyceraldehyde 3-phosphate449.4ALDOB, TALDO1
7pyruvate449.4TALDO1, ALDOB
8glucose449.3ALDOB, TALDO1
9hydrogen44 2410.1TALDO1, SUOX
10oxygen44 2410.0SUOX, TALDO1
11atp44 2810.0ALDOB, TALDO1
12lactate448.7SUOX, ALDOB, TALDO1

GO Terms for genes affiliated with Hereditary Fructose Intolerance Syndrome

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Biological processes related to Hereditary Fructose Intolerance Syndrome according to GeneCards/GeneDecks:

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

Products for genes affiliated with Hereditary Fructose Intolerance Syndrome

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet