MCID: FRC002
MIFTS: 53

Fructose Intolerance malady

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

Aliases & Classifications for Fructose Intolerance

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Aliases & Descriptions for Fructose Intolerance:

Name: Fructose Intolerance 52 25 12 39
Hereditary Fructose Intolerance 23 48 24 25 54 70 50
Hereditary Fructose Intolerance Syndrome 11 13 68
Fructosemia 11 24 25
Fructose-1,6-Bisphosphate Aldolase B Deficiency 11 48
Fructose-1-Phosphate Aldolase Deficiency 48 25
Fructose Intolerance, Hereditary 52 48
Aldolase B Deficiency 48 25
 
Aldob Deficiency 48 25
Hereditary Fructose-1-Phosphate Aldolase Deficiency 54
Fructose-1,6-Biphosphate Aldolase Deficiency 25
Fructose Aldolase B Deficiency 25
Hereditary Fructosemia 54
Fructosaemia 11
Hfi 70

Characteristics:

Orphanet epidemiological data:

54
hereditary fructose intolerance:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
fructose intolerance:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 229600
Disease Ontology11 DOID:9869
ICD1030 E74.12
ICD9CM32 271.2
MeSH39 D005633
NCIt45 C84720
Orphanet54 ORPHA469
MESH via Orphanet40 D005633
ICD10 via Orphanet31 E74.1
MedGen37 C0016751

Summaries for Fructose Intolerance

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NIH Rare Diseases:48 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, also known as hereditary fructose intolerance, is related to acquired fructose intolerance and fructose-1,6-bisphosphatase deficiency, and has symptoms including sucrose intolerance, vomiting and seizures. An important gene associated with Fructose Intolerance is ALDOB (Aldolase, Fructose-Bisphosphate B), and among its related pathways are EBV LMP1 signaling and EGF receptor (ErbB1) signaling pathway. Affiliated tissues include liver, testes and colon, and related mouse phenotypes are Decreased substrate adherent cell growth and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation.

UniProtKB/Swiss-Prot:70 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: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:52 Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet.... (229600) more...

GeneReviews for NBK333439

Related Diseases for Fructose Intolerance

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



Diseases related to fructose intolerance

Symptoms & Phenotypes for Fructose Intolerance

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Symptoms by clinical synopsis from OMIM:

229600

Clinical features from OMIM:

229600

Human phenotypes related to Fructose Intolerance:

 64 (show all 29)
id Description HPO Frequency HPO Source Accession
1 proximal tubulopathy64 HP:0000114
2 jaundice64 HP:0000952
3 intellectual disability64 HP:0001249
4 seizures64 HP:0001250
5 lethargy64 HP:0001254
6 coma64 HP:0001259
7 cirrhosis64 HP:0001394
8 hepatic steatosis64 HP:0001397
9 failure to thrive64 HP:0001508
10 metabolic acidosis64 HP:0001942
11 hypoglycemia64 HP:0001943
12 vomiting64 HP:0002013
13 nausea64 HP:0002018
14 abdominal pain64 HP:0002027
15 proximal renal tubular acidosis64 HP:0002049
16 hypophosphatemia64 HP:0002148
17 hyperuricemia64 HP:0002149
18 gastrointestinal hemorrhage64 HP:0002239
19 hepatomegaly64 HP:0002240
20 hyperbilirubinemia64 HP:0002904
21 elevated hepatic transaminases64 HP:0002910
22 glycosuria64 HP:0003076
23 hyperphosphaturia64 HP:0003109
24 lactic acidosis64 HP:0003128
25 hyperuricosuria64 HP:0003149
26 bicarbonaturia64 HP:0003646
27 malnutrition64 HP:0004395
28 fructose intolerance64 HP:0005973
29 transient aminoaciduria64 HP:0008273

UMLS symptoms related to Fructose Intolerance:


sucrose intolerance, vomiting, seizures, nausea, lethargy, hepatomegaly, abdominal pain

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-39.9CDK2, IRAK1, MAPK1
2GR00016-A8.6CCNH, CDK2, MAPK1, SUOX
3GR00103-A-08.5CDK2, CLU, GLUL, MAPK1, PTPN1, TF

MGI Mouse Phenotypes related to Fructose Intolerance according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6ALDOB, CCND3, CDK2, GLUL, MANBA, MAPK1
2MP:00053767.4ALG2, CCND3, CDK2, CLU, GLUL, MAPK1

Drugs & Therapeutics for Fructose Intolerance

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hydrocortisoneapproved, vet_approvedPhase 464050-23-75754, 657311
Synonyms:
(11alpha,14beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
11-Hydrocortisone
11-beta-Hydrocortisone
11-beta-Hydroxycortisone
11a-Hydroxycorticosterone
11alpha-Hydroxycorticosterone
11b,17,21-Trihydroxyprogesterone
11b-Hydrocortisone
11b-Hydroxycortisone
11beta,17,21-Trihydroxyprogesterone
11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione
11beta-Hydrocortisone
11beta-Hydroxycortisone
11beta-hydrocortisone
11β-hydrocortisone
17-Hydroxycorticosterone
17a-Hydroxycorticosterone
17alpha-Hydroxycorticosterone
2v95
4-Pregnen-11beta,17alpha,21-triol-3,20-dione
4-Pregnene-11alpha,21-triol 3,20-dione
4-Pregnene-11b,17a,21-triol-3,20-dione
50-23-7
8056-08-4
80562-38-5
8063-42-1
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti-inflammatory hormone
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Aquacort
Aquanil HC
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Cetacort
Chronocort
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermaspray
Dermil
Dermocortal
Dermolate
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Drotic
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Esiderm H
Evacort
Ficortril
Fiocortril
Flexicort
Foille Insetti
Genacort
Genacort (lotion)
Glycort
Gyno-Cortisone
H 4001
H-Cort
H0135_SIGMA
H0396_SIGMA
H0888_SIGMA
H3160_SIGMA
H4001_SIGMA
H6909_SIGMA
HC
HC #1
 
HC #4
HC (HYDROCORTISONE)
HMS1569I16
HMS2090M04
HSDB 3339
HYDROCORTISONE AND ACETIC ACID
HYDROCORTISONE IN ABSORBASE
Heb Cort
Heb-Cort
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone Acetate
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone Sodium Phosphate
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone solution
Hydrocortisone-Water Soluble
Hydrocortisonum
Hydrocortisonum [INN-Latin]
Hydrocortistab
Hydrocortisyl
Hydrocortone
Hydroskin
Hydroxycortisone
Hysone
Hytisone
Hytone
Hytone (TN)
Hytone lotion
Idrocortisone
Idrocortisone [DCIT]
Incortin-H
Incortin-hydrogen
Kendall'S compound F
Kendall's compound F
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Lopac0_000594
Lubricort
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Medicort
Meusicort
Mildison
Milliderm
MolPort-001-794-637
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Neo-Cort-Dome
Neo-Cortef
Neosporin-H Ear
Nogenic HC
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pediotic Suspension
Penecort
Permicort
Polcort H
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proctocort
Proctofoam
Proctozone HC
Protocort
Racet
Rectasol-HC
Rectoid
Reichstein'S substance M
Reichstein's substance M
Remederm HC
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Sanatison
Scalp-Cort
Scalpicin Capilar
Schericur
Scheroson F
Sigmacort
Signef
Stie-cort
Stiefcorcil
Synacort
Systral Hydrocort
Tarcortin
Texacort
Texacort lotion 25
Timocort
Topicort
Transderma H
Traumaide
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
2Pharmaceutical SolutionsPhase 47793
3Hydrocortisone acetatePhase 4640
4Hydrocortisone 17-butyrate 21-propionatePhase 4640
5Corticotropin-Releasing HormonePhase 428
6Cortisol succinatePhase 4640
7HormonesPhase 413979
8alanineNutraceuticalPhase 2121
9
Sorbitolapproved3150-70-45780
Synonyms:
(-)-Sorbitol
(−)-sorbitol
D-(−)-sorbitol
D-Glucitol
D-Sorbit
D-Sorbitol
D-Sorbol
D-glucitol
Diakarmon
Esasorb
Foodol D 70
G-ol
Glucarine
Glucitol
Karion
Karion instant
Kyowa Powder 50M
L-Gulitol
Multitol
Neosorb
Neosorb 20/60DC
Neosorb 70/02
Neosorb 70/70
Neosorb P 20/60
Neosorb P 60
Neosorb P 60W
Nivitin
Resulax
Sionit
Sionit K
Sionite
 
Sionon
Siosan
Sorbex M
Sorbex R
Sorbex Rp
Sorbex S
Sorbex X
Sorbilande
Sorbilax
Sorbit
Sorbit D 70
Sorbit D-Powder
Sorbit DP
Sorbit DP 50
Sorbit Kyowa Powder 50M
Sorbit L 70
Sorbit S
Sorbit T 70
Sorbit W 70
Sorbit W-Powder
Sorbit W-Powder 50
Sorbit WP
Sorbite
Sorbitol F
Sorbitol FK
Sorbitol FP
Sorbitol S
Sorbitol syrup C
Sorbitur
Sorbo
Sorbogem 712
Sorbol
Sorbostyl
10
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
11Hypoglycemic Agents5733
12Insulin, Globin Zinc4523
13insulin4524
14pancreatin935
15Protein C Inhibitor97
16Liver Extracts3868
17Alpha 1-Antitrypsin99
18Laxatives520
19Gastrointestinal Agents8109
20Calcium polycarbophil45
21Cathartics520
22ColaNutraceutical1881
23PsylliumNutraceutical45

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Oral Versus Intravenous Rehydration for Prevention of Dehydration in Premature Babies, During the First Days of Life.CompletedNCT00715000Phase 4
2Imaging the Effect of Experimental Stress on Small and Large Bowel Water During Fructose AbsorptionCompletedNCT01763281Phase 4
3Fructose Malabsorption in Northern NorwayCompletedNCT00555191Phase 2, Phase 3
4Investigation of Alanine in Fructose Intolerance: A Dose Ranging StudyUnknown statusNCT01185210Phase 2
5The Effects of Lactose Intolerance on Gastrointestinal Function and Symptoms in a Chinese PopulationUnknown statusNCT01286597
6Is the Expression of the GLUT5 Specific Fructose Transport Protein Abnormal in Patients With Fructose Intolerance?CompletedNCT01705171
7Metabolic Consequences of Heterozygous Hereditary Fructose IntoleranceCompletedNCT02979106
8Endomicroscopy, IBS and Food IntoleranceCompletedNCT01692613
9Effect of Fructose on Colonic MicrofloraCompletedNCT00775567
10The Effect of Probiotics on Lactose IntoleranceCompletedNCT01593800
11Glycemic Effects of HoneyCompletedNCT01371266
12Anti-hyperglycemic Effect of Short-term Arginyl-fructose Supplementation in Subjects With Pre-diabetes and Newly Diagnosed Type 2 Diabetes: Randomized, Double-blinded, Placebo-controlled Trial.CompletedNCT02285231
13Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682
14Irritable Bowel Syndrome and Low FODMAP DietRecruitingNCT02188680
15Fructose and Lactose Intolerance and Malabsorption in Functional Gastrointestinal DisordersActive, not recruitingNCT02085889
16Fructose Breath-testing in Irritable Bowel Syndrome (IBS)Not yet recruitingNCT02614313
17Long Term FructoseTerminatedNCT01288495

Search NIH Clinical Center for Fructose Intolerance


Cochrane evidence based reviews: fructose intolerance

Genetic Tests for Fructose Intolerance

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Genetic tests related to Fructose Intolerance:

id Genetic test Affiliating Genes
1 Hereditary Fructose Intolerance24 ALDOB

Anatomical Context for Fructose Intolerance

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MalaCards organs/tissues related to Fructose Intolerance:

36
Liver, Testes, Colon

Publications for Fructose Intolerance

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Articles related to Fructose Intolerance:

(show top 50)    (show all 75)
idTitleAuthorsYear
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
Lactose and Fructose Intolerance in Turkish Children with Chronic Abdominal Pain. (27254047)
2016
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
Self-reported dietary fructose intolerance in irritable bowel syndrome: Proposed diagnostic criteria. (25987795)
2015
7
Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. (25637246)
2015
8
Fructose intolerance/malabsorption and recurrent abdominal pain in children. (25363950)
2014
9
Fruit-induced FPIES masquerading as hereditary fructose intolerance. (25002667)
2014
10
Dietary fructose intolerance, fructan intolerance and FODMAPs. (24357350)
2014
11
Fructose intolerance/malabsorption and recurrent abdominal pain in children. (24667867)
2014
12
Fructose transporters GLUT5 and GLUT2 expression in adult patients with fructose intolerance. (24918004)
2014
13
Optimal Testing for Diagnosis of Fructose Intolerance: Over-dosage Leads to False Positive Intolerance Test. (25273127)
2014
14
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. (22375183)
2012
15
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. (23114028)
2012
16
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance. (22713622)
2012
17
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. (23430936)
2012
18
Non responsive celiac disease due to coexisting hereditary fructose intolerance. (22461154)
2012
19
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (20882353)
2010
20
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (20033295)
2010
21
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. (20848650)
2010
22
The biochemical basis of hereditary fructose intolerance. (20162364)
2010
23
Is medical nutrition therapy (MNT) the same for hereditary vs dietary fructose intolerance? (20630171)
2010
24
Adult hereditary fructose intolerance. (19452588)
2009
25
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
26
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. (18188031)
2008
27
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. (17955389)
2007
28
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. (17457694)
2007
29
Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia. (17515832)
2007
30
Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance. (17292585)
2007
31
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. (16406649)
2006
32
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (15880727)
2005
33
Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. (15733923)
2005
34
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. (15532022)
2004
35
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (12417303)
2002
36
Simple method for detection of mutations causing hereditary fructose intolerance. (12638940)
2002
37
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. (12205126)
2002
38
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. (12464284)
2002
39
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency. (10869005)
2000
40
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. (11021009)
2000
41
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. (10970798)
2000
42
Screening for hereditary fructose intolerance mutations by reverse dot-blot. (10024431)
1999
43
Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance. (10229688)
1999
44
Hereditary fructose intolerance. (9610797)
1998
45
Hereditary fructose intolerance]. (10192989)
1998
46
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. (8933337)
1996
47
A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. (8829634)
1996
48
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (8535439)
1995
49
Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (7717389)
1995
50
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (8299883)
1994

Variations for Fructose Intolerance

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

70 (show all 16)
id Symbol AA change Variation ID SNP ID
1ALDOBp.Cys135ArgVAR_000551
2ALDOBp.Ala150ProVAR_000553rs1800546
3ALDOBp.Ala175AspVAR_000554rs76917243
4ALDOBp.Leu257ProVAR_000555rs764701775
5ALDOBp.Arg304TrpVAR_000556rs555935217
6ALDOBp.Asn335LysVAR_000557rs78340951
7ALDOBp.Ala338ValVAR_000558rs77718928
8ALDOBp.Ile74ThrVAR_020822rs781023784
9ALDOBp.Pro185ArgVAR_020824
10ALDOBp.Val222PheVAR_020826
11ALDOBp.Leu229ProVAR_020827
12ALDOBp.Arg304GlnVAR_020828rs145078268
13ALDOBp.Cys178ArgVAR_058211
14ALDOBp.Leu284ProVAR_058212
15ALDOBp.Arg46TrpVAR_075348rs41281039
16ALDOBp.Tyr343HisVAR_075349rs369586696

Clinvar genetic disease variations for Fructose Intolerance:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1ALDOBNM_000035.3(ALDOB): c.1013C> T (p.Ala338Val)SNVLikely pathogenicrs77718928GRCh37Chr 9, 104184173: 104184173
2ALDOBNM_000035.3(ALDOB): c.324G> A (p.Lys108=)SNVLikely pathogenicrs750026492GRCh37Chr 9, 104192037: 104192037
3ALDOBNM_000035.3(ALDOB): c.612T> A (p.Tyr204Ter)SNVLikely pathogenic, Pathogenicrs370793608GRCh38Chr 9, 101426567: 101426567
4ALDOBNM_000035.3(ALDOB): c.625-2A> GSNVLikely pathogenicrs786204503GRCh37Chr 9, 104187911: 104187911
5ALDOBNM_000035.3(ALDOB): c.360_363delCAAA (p.Asn120Lysfs)deletionLikely pathogenic, Pathogenicrs387906225GRCh37Chr 9, 104190767: 104190770
6ALDOBNM_000035.3(ALDOB): c.113-1_115delGGTAdeletionLikely pathogenicrs786204598GRCh37Chr 9, 104192246: 104192249
7ALDOBNM_000035.3(ALDOB): c.324+1G> ASNVPathogenicrs764826805GRCh37Chr 9, 104192036: 104192036
8ALDOBNM_000035.3(ALDOB): c.865delC (p.Leu289Phefs)deletionPathogenicrs864309533GRCh37Chr 9, 104187259: 104187259
9ALDOBNM_000035.3(ALDOB): c.-10-2043_624+62deldeletionPathogenicGRCh37Chr 9, 104188775: 104195222
10ALDOBNM_000035.3(ALDOB): c.136A> T (p.Arg46Trp)SNVPathogenicrs41281039GRCh37Chr 9, 104192225: 104192225
11ALDOBNM_000035.3(ALDOB): c.1027T> C (p.Tyr343His)SNVPathogenicrs369586696GRCh37Chr 9, 104184159: 104184159
12ALDOBNM_000035.3: c.324+2T> ASNVLikely pathogenicChr na, -1: -1
13ALDOBNM_000035.3: c.112+1delGdeletionLikely pathogenicChr na, -1: -1
14ALDOBNM_000035.3: c.444G> ASNVLikely pathogenicChr na, -1: -1
15ALDOBNM_000035.3: c.379+1G> ASNVLikely pathogenicChr na, -1: -1
16ALDOBNM_000035.3: c.546delAdeletionLikely pathogenicChr na, -1: -1
17ALDOBNM_000035.3: c.888G> ASNVLikely pathogenicChr na, -1: -1
18ALDOBNM_000035.3: c.420delAdeletionLikely pathogenicChr na, -1: -1
19ALDOBNM_000035.3(ALDOB): c.448G> C (p.Ala150Pro)SNVPathogenicrs1800546GRCh37Chr 9, 104189856: 104189856
20ALDOBNM_000035.3(ALDOB): c.524C> A (p.Ala175Asp)SNVPathogenicrs76917243GRCh37Chr 9, 104189780: 104189780
21ALDOBNM_000035.3(ALDOB): c.865_867delCTT (p.Leu289del)deletionPathogenicrs118204425GRCh37Chr 9, 104187257: 104187259
22ALDOBNM_000035.3(ALDOB): c.720C> A (p.Cys240Ter)SNVPathogenicrs118204426GRCh37Chr 9, 104187814: 104187814
23ALDOBNM_000035.3(ALDOB): c.1005C> G (p.Asn335Lys)SNVPathogenicrs78340951GRCh37Chr 9, 104184181: 104184181
24ALDOBALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8indelPathogenicChr na, -1: -1
25ALDOBNM_000035.3(ALDOB): c.10C> T (p.Arg4Ter)SNVLikely pathogenic, Pathogenicrs118204428GRCh37Chr 9, 104193160: 104193160
26ALDOBNM_000035.3(ALDOB): c.178C> T (p.Arg60Ter)SNVLikely pathogenic, Pathogenicrs118204429GRCh37Chr 9, 104192183: 104192183
27ALDOBALDOB, IVS6AS, G-A, -1SNVPathogenicChr na, -1: -1
28ALDOBNM_000035.3(ALDOB): c.547_552delCTGGTA (p.Leu183_Val184del)deletionPathogenicrs387906226GRCh37Chr 9, 104188909: 104188914
29ALDOBNM_000035.3(ALDOB): c.442T> C (p.Trp148Arg)SNVPathogenicrs118204430GRCh37Chr 9, 104189862: 104189862

Expression for genes affiliated with Fructose Intolerance

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Search GEO for disease gene expression data for Fructose Intolerance.

Pathways for genes affiliated with Fructose Intolerance

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GO Terms for genes affiliated with Fructose Intolerance

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

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein kinase holoenzyme complexGO:000030710.3CCND3, CDK2
2cytosolGO:00058296.9ALDOB, CDK2, CLU, GLUL, IRAK1, MAPK1

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

idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:006039710.2MAPK1, PTPN1
2positive regulation of cyclin-dependent protein serine/threonine kinase activityGO:00457379.6CCND3, CCNH
3platelet degranulationGO:00025769.1CLU, SERPINA1, TF

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.5CCNH, MAPK1
2protein kinase bindingGO:00199019.3CCND3, MAPK1, PTPN1, TRAF3
3kinase activityGO:00163019.2CCNH, CDK2, IRAK1, MAPK1

Sources for Fructose Intolerance

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet