MCID: FRC011
MIFTS: 56

Fructose Intolerance, Hereditary

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Liver diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Fructose Intolerance, Hereditary

MalaCards integrated aliases for Fructose Intolerance, Hereditary:

Name: Fructose Intolerance, Hereditary 53 49
Hereditary Fructose Intolerance 72 23 49 24 55 71 36 51
Fructose-1,6-Bisphosphate Aldolase B Deficiency 53 12 49
Fructose-1-Phosphate Aldolase Deficiency 53 49 24
Hereditary Fructose Intolerance Syndrome 12 14 69
Aldolase B Deficiency 53 49 24
Fructose Intolerance 24 13 41
Aldob Deficiency 53 49 24
Fructosemia 53 12 24
Hereditary Fructose-1-Phosphate Aldolase Deficiency 55
Fructose-1,6-Biphosphate Aldolase Deficiency 24
Fructose Aldolase B Deficiency 24
Hereditary Fructosemia 55
Fructosaemia 12
Hfi 71

Characteristics:

Orphanet epidemiological data:

55
hereditary fructose intolerance
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy after weaning
symptoms can be prevented by strict dietary restriction
persistent exposure to fructose leads to chronic liver and kidney complications
some patients with heterozygous mutations may be symptomatic


HPO:

31
fructose intolerance, hereditary:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fructose Intolerance, Hereditary

NIH Rare Diseases : 49 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, Hereditary, also known as hereditary fructose intolerance, is related to congenital disorder of glycosylation, type in and acquired fructose intolerance, and has symptoms including seizures, abdominal pain and nausea. An important gene associated with Fructose Intolerance, Hereditary is ALDOB (Aldolase, Fructose-Bisphosphate B), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Influenza A. The drugs Pharmaceutical Solutions and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

OMIM : 53 Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance. (229600)

UniProtKB/Swiss-Prot : 71 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).

Wikipedia : 72 Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency... more...

GeneReviews: NBK333439

Related Diseases for Fructose Intolerance, Hereditary

Graphical network of the top 20 diseases related to Fructose Intolerance, Hereditary:



Diseases related to Fructose Intolerance, Hereditary

Symptoms & Phenotypes for Fructose Intolerance, Hereditary

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
lethargy
coma
mental retardation (if untreated)

Growth Other:
failure to thrive

Laboratory Abnormalities:
hypophosphatemia
hypoglycemia
hyperuricemia
abnormal liver function tests
fructosemia
more
Metabolic Features:
lactic acidosis
metabolic acidosis

Genitourinary Kidneys:
proximal renal tubulopathy

Abdomen Gastroin testinal:
abdominal pain
nausea
vomiting
malnutrition
aversion to sweets and fruit

Abdomen Liver:
hepatomegaly
hepatic steatosis
cirrhosis

Skin Nails Hair Skin:
jaundice

Head And Neck Teeth:
absent dental caries


Clinical features from OMIM:

229600

Human phenotypes related to Fructose Intolerance, Hereditary:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 abdominal pain 31 HP:0002027
3 nausea 31 HP:0002018
4 vomiting 31 HP:0002013
5 lethargy 31 HP:0001254
6 intellectual disability 31 HP:0001249
7 failure to thrive 31 HP:0001508
8 hepatomegaly 31 HP:0002240
9 hypophosphatemia 31 HP:0002148
10 hypoglycemia 31 HP:0001943
11 hyperuricemia 31 HP:0002149
12 hepatic steatosis 31 HP:0001397
13 elevated hepatic transaminases 31 HP:0002910
14 cirrhosis 31 HP:0001394
15 jaundice 31 HP:0000952
16 lactic acidosis 31 HP:0003128
17 coma 31 HP:0001259
18 gastrointestinal hemorrhage 31 HP:0002239
19 proximal renal tubular acidosis 31 HP:0002049
20 metabolic acidosis 31 HP:0001942
21 hyperbilirubinemia 31 HP:0002904
22 proximal tubulopathy 31 HP:0000114
23 glycosuria 31 HP:0003076
24 malnutrition 31 HP:0004395
25 hyperphosphaturia 31 HP:0003109
26 hyperuricosuria 31 HP:0003149
27 fructose intolerance 31 HP:0005973
28 bicarbonaturia 31 HP:0003646
29 transient aminoaciduria 31 HP:0008273

UMLS symptoms related to Fructose Intolerance, Hereditary:


vomiting, seizures, nausea, lethargy, icterus, abdominal pain

GenomeRNAi Phenotypes related to Fructose Intolerance, Hereditary according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.61 MAPK1 CDK2
2 Decreased substrate adherent cell growth GR00193-A-2 9.61 CDK2 IRAK1
3 Decreased substrate adherent cell growth GR00193-A-3 9.61 IRAK1 MAPK1 CDK2
4 Decreased substrate adherent cell growth GR00193-A-4 9.61 MAPK1 CDK2
5 Increased cell death HMECs cells GR00103-A-0 9.1 CDK2 CLU GLUL MAPK1 PTPN1 TF

MGI Mouse Phenotypes related to Fructose Intolerance, Hereditary:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 PMM2 PTPN1 TALDO1 TF TRAF3 ALDOB
2 cardiovascular system MP:0005385 10.02 ALDOB CCND3 CDK2 CLU HP IRAK1
3 cellular MP:0005384 10.02 HP IRAK1 MANBA MAPK1 PMM2 TALDO1
4 immune system MP:0005387 9.85 CLU HP IRAK1 MANBA MAPK1 PMM2
5 liver/biliary system MP:0005370 9.61 ALDOB CCND3 CDK2 GLUL HP MANBA
6 mortality/aging MP:0010768 9.4 ALDOB ALG2 CCND3 CDK2 GLUL HP

Drugs & Therapeutics for Fructose Intolerance, Hereditary

Drugs for Fructose Intolerance, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2
Pancrelipase Approved, Investigational 53608-75-6
3 Alpha 1-Antitrypsin
4 Liver Extracts
5 pancreatin
6 Protein C Inhibitor
7
Levan 9013-95-0 22833608
8 Calcium polycarbophil
9 Cathartics
10 Gastrointestinal Agents
11 Laxatives
12 alanine Nutraceutical
13 Psyllium Nutraceutical

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 Oral Versus Intravenous Rehydration for Prevention of Dehydration in Premature Babies, During the First Days of Life. Completed NCT00715000 Phase 4
2 Is the Expression of the GLUT5 Specific Fructose Transport Protein Abnormal in Patients With Fructose Intolerance? Completed NCT01705171
3 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106
4 Endomicroscopy, IBS and Food Intolerance Completed NCT01692613
5 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
6 Investigation of Alanine in Fructose Intolerance: A Dose Ranging Study Active, not recruiting NCT01185210
7 Fructose and Lactose Intolerance and Malabsorption in Functional Gastrointestinal Disorders Active, not recruiting NCT02085889
8 Low Fructose Diet in Diabetes Type 2 Active, not recruiting NCT03352596
9 FODMAP Reintroduction in Irritable Bowel Syndrome Enrolling by invitation NCT03245645
10 Fructose Breath-testing in Irritable Bowel Syndrome (IBS) Not yet recruiting NCT02614313
11 Clinical Utility of Breath Tests in GI Not yet recruiting NCT03261856
12 Long Term Fructose Terminated NCT01288495

Search NIH Clinical Center for Fructose Intolerance, Hereditary

Cochrane evidence based reviews: fructose intolerance

Genetic Tests for Fructose Intolerance, Hereditary

Anatomical Context for Fructose Intolerance, Hereditary

MalaCards organs/tissues related to Fructose Intolerance, Hereditary:

38
Liver, Kidney, Testes

Publications for Fructose Intolerance, Hereditary

Articles related to Fructose Intolerance, Hereditary:

(show top 50) (show all 60)
# Title Authors Year
1
Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum. ( 27797444 )
2017
2
Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance. ( 27720712 )
2016
3
Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. ( 25637246 )
2015
4
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. ( 25595217 )
2015
5
Hereditary fructose intolerance in Brazilian patients. ( 26937407 )
2015
6
Fruit-induced FPIES masquerading as hereditary fructose intolerance. ( 25002667 )
2014
7
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. ( 23430936 )
2012
8
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance. ( 22713622 )
2012
9
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. ( 23114028 )
2012
10
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. ( 22375183 )
2012
11
Non responsive celiac disease due to coexisting hereditary fructose intolerance. ( 22461154 )
2012
12
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. ( 20033295 )
2010
13
The biochemical basis of hereditary fructose intolerance. ( 20162364 )
2010
14
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. ( 20882353 )
2010
15
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. ( 20848650 )
2010
16
Adult hereditary fructose intolerance. ( 19452588 )
2009
17
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. ( 18188031 )
2008
18
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. ( 18541450 )
2008
19
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. ( 17457694 )
2007
20
Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia. ( 17515832 )
2007
21
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. ( 17955389 )
2007
22
Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance. ( 17292585 )
2007
23
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. ( 16406649 )
2006
24
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. ( 15880727 )
2005
25
Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. ( 15733923 )
2005
26
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. ( 15532022 )
2004
27
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. ( 12417303 )
2002
28
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. ( 12205126 )
2002
29
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. ( 12464284 )
2002
30
Simple method for detection of mutations causing hereditary fructose intolerance. ( 12638940 )
2002
31
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. ( 11021009 )
2000
32
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency. ( 10869005 )
2000
33
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. ( 10970798 )
2000
34
Screening for hereditary fructose intolerance mutations by reverse dot-blot. ( 10024431 )
1999
35
Hereditary fructose intolerance. ( 9610797 )
1998
36
[Hereditary fructose intolerance]. ( 10192989 )
1998
37
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. ( 8933337 )
1996
38
A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. ( 8829634 )
1996
39
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. ( 8535439 )
1995
40
Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. ( 7717389 )
1995
41
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. ( 8299883 )
1994
42
Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. ( 8162030 )
1994
43
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. ( 8071980 )
1994
44
Hereditary Fructose Intolerance ( 26677512 )
1993
45
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. ( 8096362 )
1993
46
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. ( 1856829 )
1991
47
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. ( 1928090 )
1991
48
Case report: heterogeneity of aldolase B in hereditary fructose intolerance. ( 1772121 )
1991
49
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. ( 2336380 )
1990
50
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. ( 2203259 )
1990

Variations for Fructose Intolerance, Hereditary

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

71 (show all 16)
# Symbol AA change Variation ID SNP ID
1 ALDOB p.Cys135Arg VAR_000551
2 ALDOB p.Ala150Pro VAR_000553 rs1800546
3 ALDOB p.Ala175Asp VAR_000554 rs76917243
4 ALDOB p.Leu257Pro VAR_000555 rs764701775
5 ALDOB p.Arg304Trp VAR_000556 rs555935217
6 ALDOB p.Asn335Lys VAR_000557 rs78340951
7 ALDOB p.Ala338Val VAR_000558 rs77718928
8 ALDOB p.Ile74Thr VAR_020822 rs781023784
9 ALDOB p.Pro185Arg VAR_020824
10 ALDOB p.Val222Phe VAR_020826
11 ALDOB p.Leu229Pro VAR_020827
12 ALDOB p.Arg304Gln VAR_020828 rs145078268
13 ALDOB p.Cys178Arg VAR_058211
14 ALDOB p.Leu284Pro VAR_058212
15 ALDOB p.Arg46Trp VAR_075348 rs41281039
16 ALDOB p.Tyr343His VAR_075349 rs369586696

ClinVar genetic disease variations for Fructose Intolerance, Hereditary:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDOB NM_000035.3(ALDOB): c.-10-2043_624+62del deletion Pathogenic GRCh37 Chromosome 9, 104188775: 104195222
2 ALDOB NM_000035.3(ALDOB): c.136A> T (p.Arg46Trp) single nucleotide variant Pathogenic rs41281039 GRCh37 Chromosome 9, 104192225: 104192225
3 ALDOB NM_000035.3(ALDOB): c.1027T> C (p.Tyr343His) single nucleotide variant Pathogenic rs369586696 GRCh37 Chromosome 9, 104184159: 104184159
4 ALDOB NM_000035.3(ALDOB): c.1013C> T (p.Ala338Val) single nucleotide variant Likely pathogenic rs77718928 GRCh37 Chromosome 9, 104184173: 104184173
5 ALDOB NM_000035.3(ALDOB): c.625-2A> G single nucleotide variant Likely pathogenic rs786204503 GRCh37 Chromosome 9, 104187911: 104187911
6 ALDOB NM_000035.3(ALDOB): c.612T> A (p.Tyr204Ter) single nucleotide variant Pathogenic/Likely pathogenic rs370793608 GRCh38 Chromosome 9, 101426567: 101426567
7 ALDOB NM_000035.3(ALDOB): c.360_363delCAAA (p.Asn120Lysfs) deletion Pathogenic/Likely pathogenic rs387906225 GRCh37 Chromosome 9, 104190767: 104190770
8 ALDOB NM_000035.3(ALDOB): c.324G> A (p.Lys108=) single nucleotide variant Likely pathogenic rs750026492 GRCh37 Chromosome 9, 104192037: 104192037
9 ALDOB NM_000035.3(ALDOB): c.113-1_115delGGTA deletion Likely pathogenic rs786204598 GRCh37 Chromosome 9, 104192246: 104192249
10 ALDOB NM_000035.3(ALDOB): c.448G> C (p.Ala150Pro) single nucleotide variant Pathogenic rs1800546 GRCh37 Chromosome 9, 104189856: 104189856
11 ALDOB NM_000035.3(ALDOB): c.524C> A (p.Ala175Asp) single nucleotide variant Pathogenic rs76917243 GRCh37 Chromosome 9, 104189780: 104189780
12 ALDOB NM_000035.3(ALDOB): c.865_867delCTT (p.Leu289del) deletion Pathogenic rs118204425 GRCh37 Chromosome 9, 104187257: 104187259
13 ALDOB NM_000035.3(ALDOB): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs118204426 GRCh37 Chromosome 9, 104187814: 104187814
14 ALDOB NM_000035.3(ALDOB): c.1005C> G (p.Asn335Lys) single nucleotide variant Pathogenic rs78340951 GRCh37 Chromosome 9, 104184181: 104184181
15 ALDOB ALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8 indel Pathogenic
16 ALDOB NM_000035.3(ALDOB): c.10C> T (p.Arg4Ter) single nucleotide variant Pathogenic/Likely pathogenic rs118204428 GRCh37 Chromosome 9, 104193160: 104193160
17 ALDOB NM_000035.3(ALDOB): c.178C> T (p.Arg60Ter) single nucleotide variant Pathogenic/Likely pathogenic rs118204429 GRCh37 Chromosome 9, 104192183: 104192183
18 ALDOB ALDOB, IVS6AS, G-A, -1 single nucleotide variant Pathogenic
19 ALDOB NM_000035.3(ALDOB): c.547_552delCTGGTA (p.Leu183_Val184del) deletion Pathogenic rs387906226 GRCh37 Chromosome 9, 104188909: 104188914
20 ALDOB NM_000035.3(ALDOB): c.442T> C (p.Trp148Arg) single nucleotide variant Pathogenic rs118204430 GRCh37 Chromosome 9, 104189862: 104189862
21 ALDOB NM_000035.3(ALDOB): c.865delC (p.Leu289Phefs) deletion Pathogenic rs864309533 GRCh37 Chromosome 9, 104187259: 104187259
22 ALDOB NM_000035.3(ALDOB): c.324+1G> A single nucleotide variant Pathogenic rs764826805 GRCh37 Chromosome 9, 104192036: 104192036
23 ALDOB NM_000035.3(ALDOB): c.888G> A (p.Trp296Ter) single nucleotide variant Likely pathogenic rs1057517133 GRCh38 Chromosome 9, 101424954: 101424954
24 ALDOB NM_000035.3(ALDOB): c.546delA (p.Leu183Trpfs) deletion Likely pathogenic rs1057517091 GRCh37 Chromosome 9, 104188915: 104188915
25 ALDOB NM_000035.3(ALDOB): c.444G> A (p.Trp148Ter) single nucleotide variant Likely pathogenic rs1057516902 GRCh37 Chromosome 9, 104189860: 104189860
26 ALDOB NM_000035.3(ALDOB): c.420delA (p.Asp141Metfs) deletion Likely pathogenic rs1057517421 GRCh38 Chromosome 9, 101427602: 101427602
27 ALDOB NM_000035.3(ALDOB): c.379+1G> A single nucleotide variant Likely pathogenic rs138121153 GRCh37 Chromosome 9, 104190750: 104190750
28 ALDOB NM_000035.3(ALDOB): c.324+2T> A single nucleotide variant Likely pathogenic rs1057516379 GRCh38 Chromosome 9, 101429753: 101429753
29 ALDOB NM_000035.3(ALDOB): c.112+1delG deletion Likely pathogenic rs1057516534 GRCh37 Chromosome 9, 104193057: 104193057
30 ALDOB NM_000035.3(ALDOB): c.911G> A (p.Arg304Gln) single nucleotide variant Likely pathogenic rs145078268 GRCh38 Chromosome 9, 101424931: 101424931

Expression for Fructose Intolerance, Hereditary

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

Pathways for Fructose Intolerance, Hereditary

Pathways related to Fructose Intolerance, Hereditary according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

Pathways related to Fructose Intolerance, Hereditary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 CCND3 CDK2 IRAK1 MAPK1 TRAF3
2 11.96 CCND3 CCNH CDK2 MAPK1
3 11.23 CCND3 CDK2 MAPK1 TRAF3
4 10.96 CCND3 CDK2 MAPK1
5 10.68 CDK2 MAPK1

GO Terms for Fructose Intolerance, Hereditary

Cellular components related to Fructose Intolerance, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.61 ALDOB CLU GLUL HP MAPK1 PMM2
2 cytosol GO:0005829 9.4 ALDOB ALG2 CCND3 CDK2 CLU GLUL
3 cyclin-dependent protein kinase holoenzyme complex GO:0000307 9.16 CCND3 CDK2

Biological processes related to Fructose Intolerance, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.33 CLU SERPINA1 TF
2 positive regulation of receptor-mediated endocytosis GO:0048260 9.26 CLU TF
3 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 8.96 MAPK1 PTPN1
4 regulation of insulin receptor signaling pathway GO:0046626 8.62 CCND3 PTPN1

Molecular functions related to Fructose Intolerance, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 ALDOB ALG2 CCND3 CCNH CDK2 CLU
2 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 8.96 CCNH MAPK1

Sources for Fructose Intolerance, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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