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 57 53
Hereditary Fructose Intolerance 76 24 53 25 59 75 37 55
Fructose-1,6-Bisphosphate Aldolase B Deficiency 57 12 53
Fructose-1-Phosphate Aldolase Deficiency 57 53 25
Hereditary Fructose Intolerance Syndrome 12 15 73
Aldolase B Deficiency 57 53 25
Fructose Intolerance 25 13 44
Aldob Deficiency 57 53 25
Fructosemia 57 12 25
Hereditary Fructose-1-Phosphate Aldolase Deficiency 59
Fructose-1,6-Biphosphate Aldolase Deficiency 25
Fructose Aldolase B Deficiency 25
Hereditary Fructosemia 59
Fructosaemia 12
Hfi 75

Characteristics:

Orphanet epidemiological data:

59
hereditary fructose intolerance
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
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:

32
fructose intolerance, hereditary:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fructose Intolerance, Hereditary

NIH Rare Diseases : 53 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.

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 abdominal pain, icterus and lethargy. An important gene associated with Fructose Intolerance, Hereditary is ALDOB (Aldolase, Fructose-Bisphosphate B), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Glycosaminoglycan metabolism. 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 intellectual disability and seizures

Genetics Home Reference : 25 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).

OMIM : 57 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 : 75 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.

Wikipedia : 76 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:

57
Neurologic Central Nervous System:
seizures
coma
lethargy
mental retardation (if untreated)

Abdomen Liver:
hepatomegaly
hepatic steatosis
cirrhosis

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

Genitourinary Kidneys:
proximal renal tubulopathy

Growth Other:
failure to thrive

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

Skin Nails Hair Skin:
jaundice

Head And Neck Teeth:
absent dental caries


Clinical features from OMIM:

229600

Human phenotypes related to Fructose Intolerance, Hereditary:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 failure to thrive 32 HP:0001508
4 hepatomegaly 32 HP:0002240
5 vomiting 32 HP:0002013
6 hypophosphatemia 32 HP:0002148
7 hypoglycemia 32 HP:0001943
8 hyperuricemia 32 HP:0002149
9 abdominal pain 32 HP:0002027
10 hepatic steatosis 32 HP:0001397
11 elevated hepatic transaminases 32 HP:0002910
12 cirrhosis 32 HP:0001394
13 jaundice 32 HP:0000952
14 lactic acidosis 32 HP:0003128
15 coma 32 HP:0001259
16 gastrointestinal hemorrhage 32 HP:0002239
17 proximal renal tubular acidosis 32 HP:0002049
18 lethargy 32 HP:0001254
19 metabolic acidosis 32 HP:0001942
20 hyperbilirubinemia 32 HP:0002904
21 proximal tubulopathy 32 HP:0000114
22 glycosuria 32 HP:0003076
23 nausea 32 HP:0002018
24 malnutrition 32 HP:0004395
25 hyperphosphaturia 32 HP:0003109
26 hyperuricosuria 32 HP:0003149
27 fructose intolerance 32 HP:0005973
28 bicarbonaturia 32 HP:0003646
29 transient aminoaciduria 32 HP:0008273

UMLS symptoms related to Fructose Intolerance, Hereditary:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.43 CDK2 CLU GLUL MAPK1 PTPN1 TF
2 Increased transferrin (TF) endocytosis GR00363-A 9.4 ALDOB ALG2 CDK2 IRAK1 MAPK1 PMM2

MGI Mouse Phenotypes related to Fructose Intolerance, Hereditary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ALDOB ALG2 CCND3 CLU GLUL MANBA
2 cellular MP:0005384 10.11 TALDO1 TRAF3 IRAK1 MANBA MAPK1 PMM2
3 cardiovascular system MP:0005385 10.1 ALDOB CCND3 CDK2 CLU HP IRAK1
4 homeostasis/metabolism MP:0005376 10.1 TRAF3 ALDOB ALG2 CCND3 CDK2 CLU
5 growth/size/body region MP:0005378 10.06 ALDOB CCND3 CDK2 GLUL MAPK1 PMM2
6 immune system MP:0005387 9.85 ALDOB CCND3 CDK2 CLU HP IRAK1
7 liver/biliary system MP:0005370 9.65 ALDOB CCND3 CDK2 GLUL HP MANBA
8 mortality/aging MP:0010768 9.44 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 Not Applicable 9013-95-0 22833608
8 Calcium polycarbophil Not Applicable
9 Cathartics Not Applicable
10 Gastrointestinal Agents Not Applicable
11 Laxatives Not Applicable
12 alanine Nutraceutical Not Applicable
13 Psyllium Nutraceutical Not Applicable

Interventional clinical trials:

(show all 13)
# 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 Fructose Breath-testing in Irritable Bowel Syndrome (IBS) Unknown status NCT02614313 Not Applicable
3 Is the Expression of the GLUT5 Specific Fructose Transport Protein Abnormal in Patients With Fructose Intolerance? Completed NCT01705171
4 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106 Not Applicable
5 Endomicroscopy, IBS and Food Intolerance Completed NCT01692613
6 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
7 Fructose Supplementation in Carriers for Hereditary Fructose Intolerance Recruiting NCT03545581 Not Applicable
8 Investigation of Alanine in Fructose Intolerance: A Dose Ranging Study Active, not recruiting NCT01185210 Not Applicable
9 Fructose and Lactose Intolerance and Malabsorption in Functional Gastrointestinal Disorders Active, not recruiting NCT02085889
10 Low Fructose Diet in Diabetes Type 2 Active, not recruiting NCT03352596 Not Applicable
11 FODMAP Reintroduction in Irritable Bowel Syndrome Enrolling by invitation NCT03245645 Not Applicable
12 Clinical Utility of Breath Tests in GI Not yet recruiting NCT03261856
13 Long Term Fructose Terminated NCT01288495 Not Applicable

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:

41
Liver, Kidney, Testes

Publications for Fructose Intolerance, Hereditary

Articles related to Fructose Intolerance, Hereditary:

(show top 50) (show all 70)
# 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
Hereditary fructose intolerance in Brazilian patients. ( 26937407 )
2015
4
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. ( 25595217 )
2015
5
Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. ( 25637246 )
2015
6
Fruit-induced FPIES masquerading as hereditary fructose intolerance. ( 25002667 )
2014
7
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. ( 22375183 )
2012
8
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. ( 23430936 )
2012
9
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. ( 23114028 )
2012
10
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance. ( 22713622 )
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
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. ( 20882353 )
2010
14
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. ( 20848650 )
2010
15
The biochemical basis of hereditary fructose intolerance. ( 20162364 )
2010
16
Adult hereditary fructose intolerance. ( 19452588 )
2009
17
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
18
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. ( 18188031 )
2008
19
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. ( 17457694 )
2007
20
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. ( 17955389 )
2007
21
Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia. ( 17515832 )
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
Two cases of hereditary fructose intolerance. ( 23105397 )
2003
28
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. ( 12464284 )
2002
29
Hepatic and renal failure associated with amiodarone infusion in a patient with hereditary fructose intolerance. ( 16573414 )
2002
30
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. ( 12417303 )
2002
31
Simple method for detection of mutations causing hereditary fructose intolerance. ( 12638940 )
2002
32
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. ( 12205126 )
2002
33
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency. ( 10869005 )
2000
34
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. ( 10970798 )
2000
35
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. ( 11021009 )
2000
36
Screening for hereditary fructose intolerance mutations by reverse dot-blot. ( 10024431 )
1999
37
[Hereditary fructose intolerance]. ( 10192989 )
1998
38
Hereditary fructose intolerance. ( 9610797 )
1998
39
A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. ( 8829634 )
1996
40
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. ( 8933337 )
1996
41
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene. ( 8880583 )
1996
42
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. ( 8535439 )
1995
43
Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. ( 7717389 )
1995
44
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. ( 8299883 )
1994
45
Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. ( 8162030 )
1994
46
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. ( 8071980 )
1994
47
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. ( 8096362 )
1993
48
Hereditary Fructose Intolerance ( 26677512 )
1993
49
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. ( 1928090 )
1991
50
Case report: heterogeneity of aldolase B in hereditary fructose intolerance. ( 1772121 )
1991

Variations for Fructose Intolerance, Hereditary

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

75 (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 top 50) (show all 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDOB NM_000035.3(ALDOB): c.448G> C (p.Ala150Pro) single nucleotide variant Pathogenic rs1800546 GRCh37 Chromosome 9, 104189856: 104189856
2 ALDOB NM_000035.3(ALDOB): c.448G> C (p.Ala150Pro) single nucleotide variant Pathogenic rs1800546 GRCh38 Chromosome 9, 101427574: 101427574
3 ALDOB NM_000035.3(ALDOB): c.524C> A (p.Ala175Asp) single nucleotide variant Pathogenic rs76917243 GRCh37 Chromosome 9, 104189780: 104189780
4 ALDOB NM_000035.3(ALDOB): c.524C> A (p.Ala175Asp) single nucleotide variant Pathogenic rs76917243 GRCh38 Chromosome 9, 101427498: 101427498
5 ALDOB NM_000035.3(ALDOB): c.865_867delCTT (p.Leu289del) deletion Pathogenic rs118204425 GRCh37 Chromosome 9, 104187257: 104187259
6 ALDOB NM_000035.3(ALDOB): c.865_867delCTT (p.Leu289del) deletion Pathogenic rs118204425 GRCh38 Chromosome 9, 101424975: 101424977
7 ALDOB NM_000035.3(ALDOB): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs118204426 GRCh37 Chromosome 9, 104187814: 104187814
8 ALDOB NM_000035.3(ALDOB): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs118204426 GRCh38 Chromosome 9, 101425532: 101425532
9 ALDOB NM_000035.3(ALDOB): c.1005C> G (p.Asn335Lys) single nucleotide variant Pathogenic rs78340951 GRCh37 Chromosome 9, 104184181: 104184181
10 ALDOB NM_000035.3(ALDOB): c.1005C> G (p.Asn335Lys) single nucleotide variant Pathogenic rs78340951 GRCh38 Chromosome 9, 101421899: 101421899
11 ALDOB ALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8 indel Pathogenic
12 ALDOB NM_000035.3(ALDOB): c.10C> T (p.Arg4Ter) single nucleotide variant Likely pathogenic rs118204428 GRCh37 Chromosome 9, 104193160: 104193160
13 ALDOB NM_000035.3(ALDOB): c.10C> T (p.Arg4Ter) single nucleotide variant Likely pathogenic rs118204428 GRCh38 Chromosome 9, 101430878: 101430878
14 ALDOB NM_000035.3(ALDOB): c.178C> T (p.Arg60Ter) single nucleotide variant Likely pathogenic rs118204429 GRCh37 Chromosome 9, 104192183: 104192183
15 ALDOB NM_000035.3(ALDOB): c.178C> T (p.Arg60Ter) single nucleotide variant Likely pathogenic rs118204429 GRCh38 Chromosome 9, 101429901: 101429901
16 ALDOB ALDOB, IVS6AS, G-A, -1 single nucleotide variant Pathogenic
17 ALDOB NM_000035.3(ALDOB): c.547_552delCTGGTA (p.Leu183_Val184del) deletion Pathogenic rs387906226 GRCh37 Chromosome 9, 104188909: 104188914
18 ALDOB NM_000035.3(ALDOB): c.547_552delCTGGTA (p.Leu183_Val184del) deletion Pathogenic rs387906226 GRCh38 Chromosome 9, 101426627: 101426632
19 ALDOB NM_000035.3(ALDOB): c.442T> C (p.Trp148Arg) single nucleotide variant Pathogenic rs118204430 GRCh37 Chromosome 9, 104189862: 104189862
20 ALDOB NM_000035.3(ALDOB): c.442T> C (p.Trp148Arg) single nucleotide variant Pathogenic rs118204430 GRCh38 Chromosome 9, 101427580: 101427580
21 ALDOB NM_000035.3(ALDOB): c.-10-2043_624+62del deletion Pathogenic GRCh37 Chromosome 9, 104188775: 104195222
22 ALDOB NM_000035.3(ALDOB): c.-10-2043_624+62del deletion Pathogenic GRCh38 Chromosome 9, 101426493: 101432940
23 ALDOB NM_000035.3(ALDOB): c.136A> T (p.Arg46Trp) single nucleotide variant Pathogenic rs41281039 GRCh37 Chromosome 9, 104192225: 104192225
24 ALDOB NM_000035.3(ALDOB): c.136A> T (p.Arg46Trp) single nucleotide variant Pathogenic rs41281039 GRCh38 Chromosome 9, 101429943: 101429943
25 ALDOB NM_000035.3(ALDOB): c.1027T> C (p.Tyr343His) single nucleotide variant Pathogenic rs369586696 GRCh37 Chromosome 9, 104184159: 104184159
26 ALDOB NM_000035.3(ALDOB): c.1027T> C (p.Tyr343His) single nucleotide variant Pathogenic rs369586696 GRCh38 Chromosome 9, 101421877: 101421877
27 ALDOB NM_000035.3(ALDOB): c.1013C> T (p.Ala338Val) single nucleotide variant Pathogenic/Likely pathogenic rs77718928 GRCh37 Chromosome 9, 104184173: 104184173
28 ALDOB NM_000035.3(ALDOB): c.1013C> T (p.Ala338Val) single nucleotide variant Pathogenic/Likely pathogenic rs77718928 GRCh38 Chromosome 9, 101421891: 101421891
29 ALDOB NM_000035.3(ALDOB): c.625-2A> G single nucleotide variant Likely pathogenic rs786204503 GRCh37 Chromosome 9, 104187911: 104187911
30 ALDOB NM_000035.3(ALDOB): c.625-2A> G single nucleotide variant Likely pathogenic rs786204503 GRCh38 Chromosome 9, 101425629: 101425629
31 ALDOB NM_000035.3(ALDOB): c.612T> A (p.Tyr204Ter) single nucleotide variant Pathogenic/Likely pathogenic rs370793608 GRCh38 Chromosome 9, 101426567: 101426567
32 ALDOB NM_000035.3(ALDOB): c.612T> A (p.Tyr204Ter) single nucleotide variant Pathogenic/Likely pathogenic rs370793608 GRCh37 Chromosome 9, 104188849: 104188849
33 ALDOB NM_000035.3(ALDOB): c.360_363delCAAA (p.Asn120Lysfs) deletion Pathogenic/Likely pathogenic rs387906225 GRCh37 Chromosome 9, 104190767: 104190770
34 ALDOB NM_000035.3(ALDOB): c.360_363delCAAA (p.Asn120Lysfs) deletion Pathogenic/Likely pathogenic rs387906225 GRCh38 Chromosome 9, 101428485: 101428488
35 ALDOB NM_000035.3(ALDOB): c.324G> A (p.Lys108=) single nucleotide variant Likely pathogenic rs750026492 GRCh37 Chromosome 9, 104192037: 104192037
36 ALDOB NM_000035.3(ALDOB): c.324G> A (p.Lys108=) single nucleotide variant Likely pathogenic rs750026492 GRCh38 Chromosome 9, 101429755: 101429755
37 ALDOB NM_000035.3(ALDOB): c.113-1_115delGGTA deletion Likely pathogenic rs786204598 GRCh37 Chromosome 9, 104192246: 104192249
38 ALDOB NM_000035.3(ALDOB): c.113-1_115delGGTA deletion Likely pathogenic rs786204598 GRCh38 Chromosome 9, 101429964: 101429967
39 ALDOB NM_000035.3(ALDOB): c.324+8C> G single nucleotide variant Benign/Likely benign rs118168553 GRCh37 Chromosome 9, 104192029: 104192029
40 ALDOB NM_000035.3(ALDOB): c.324+8C> G single nucleotide variant Benign/Likely benign rs118168553 GRCh38 Chromosome 9, 101429747: 101429747
41 ALDOB NM_000035.3(ALDOB): c.865delC (p.Leu289Phefs) deletion Pathogenic rs864309533 GRCh37 Chromosome 9, 104187259: 104187259
42 ALDOB NM_000035.3(ALDOB): c.865delC (p.Leu289Phefs) deletion Pathogenic rs864309533 GRCh38 Chromosome 9, 101424977: 101424977
43 ALDOB NM_000035.3(ALDOB): c.324+1G> A single nucleotide variant Pathogenic rs764826805 GRCh37 Chromosome 9, 104192036: 104192036
44 ALDOB NM_000035.3(ALDOB): c.324+1G> A single nucleotide variant Pathogenic rs764826805 GRCh38 Chromosome 9, 101429754: 101429754
45 ALDOB NM_000035.3(ALDOB): c.799+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141888548 GRCh37 Chromosome 9, 104187729: 104187729
46 ALDOB NM_000035.3(ALDOB): c.799+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141888548 GRCh38 Chromosome 9, 101425447: 101425447
47 ALDOB NM_000035.3(ALDOB): c.759C> T (p.Thr253=) single nucleotide variant Conflicting interpretations of pathogenicity rs146360505 GRCh37 Chromosome 9, 104187775: 104187775
48 ALDOB NM_000035.3(ALDOB): c.759C> T (p.Thr253=) single nucleotide variant Conflicting interpretations of pathogenicity rs146360505 GRCh38 Chromosome 9, 101425493: 101425493
49 ALDOB NM_000035.3(ALDOB): c.*1151A> G single nucleotide variant Benign rs491979 GRCh37 Chromosome 9, 104182940: 104182940
50 ALDOB NM_000035.3(ALDOB): c.*1151A> G single nucleotide variant Benign rs491979 GRCh38 Chromosome 9, 101420658: 101420658

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:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

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 9.65 ALDOB CLU GLUL HP MAPK1 PMM2
2 cyclin-dependent protein kinase holoenzyme complex GO:0000307 8.8 CCND3 CCNH 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 9.54 CLU SERPINA1 TF
2 carbohydrate metabolic process GO:0005975 9.46 MANBA SLC2A2 SLC2A5 TALDO1
3 glucose transmembrane transport GO:1904659 9.4 SLC2A2 SLC2A5
4 neutrophil degranulation GO:0043312 9.35 HP MANBA MAPK1 SERPINA1 SLC2A5
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.32 MAPK1 PTPN1
6 regulation of insulin receptor signaling pathway GO:0046626 9.26 CCND3 PTPN1
7 intestinal hexose absorption GO:0106001 8.62 SLC2A2 SLC2A5

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.26 CCNH MAPK1
2 glucose transmembrane transporter activity GO:0005355 8.96 SLC2A2 SLC2A5
3 fructose binding GO:0070061 8.62 ALDOB SLC2A5
4 protein binding GO:0005515 10.09 ALDOB ALG2 CCND3 CCNH CDK2 CLU

Sources for Fructose Intolerance, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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