MCID: FRC002
MIFTS: 54

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 50 24 12 37
Hereditary Fructose Intolerance 22 46 23 24 52 68 48
Hereditary Fructose Intolerance Syndrome 11 13 66
Fructosemia 11 23 24
Fructose-1,6-Bisphosphate Aldolase B Deficiency 11 46
Fructose-1-Phosphate Aldolase Deficiency 46 24
Fructose Intolerance, Hereditary 50 46
Aldolase B Deficiency 46 24
 
Aldob Deficiency 46 24
Hereditary Fructose-1-Phosphate Aldolase Deficiency 52
Fructose-1,6-Biphosphate Aldolase Deficiency 24
Fructose Aldolase B Deficiency 24
Hereditary Fructosemia 52
Fructosaemia 11
Hfi 68

Characteristics:

Orphanet epidemiological data:

52
hereditary fructose intolerance:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
fructose intolerance:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 229600
Disease Ontology11 DOID:9869
ICD1028 E74.12
ICD9CM30 271.2
MeSH37 D005633
NCIt43 C84720
Orphanet52 ORPHA469
ICD10 via Orphanet29 E74.1
MESH via Orphanet38 D005633
MedGen35 C0016751

Summaries for Fructose Intolerance

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NIH Rare Diseases:46 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 abdominal pain, hepatomegaly and lethargy. 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, kidney and testes, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

UniProtKB/Swiss-Prot:68 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).

OMIM:50 Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet.... (229600) more...

Wikipedia:69 Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency... more...

GeneReviews summary 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 for Fructose Intolerance

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Symptoms by clinical synopsis from OMIM:

229600

Clinical features from OMIM:

229600

HPO human phenotypes related to Fructose Intolerance:

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

UMLS symptoms related to Fructose Intolerance:


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

Drugs & Therapeutics for Fructose Intolerance

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydrocortisonePhase 460250-23-75754, 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
2alanineNutraceuticalPhase 2116
3insulin4401
4
Sorbitol2950-70-45780
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
5
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
6pancreatin917
7
Tagatose387-81-092092
Synonyms:
D-Lyxo-2-Hexulose
D-Lyxo-hex-2-ulose
D-Tag
D-Tagatose
D-lyxo-hex-2-ulose
 
D-lyxo-hexulose
D-tag
D-tagatose
Lyxo-2-Hexulose
Lyxo-Hexulose
Tagatose
8
Iron10807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
9
Uric acid12769-93-21175
Synonyms:
1H-Purine-2,6,8-triol
2,6,8-Trihydroxypurine
2,6,8-Trioxopurine
2,6,8-Trioxypurine
 
7,9-dihydro-1H-purine-2,6,8(3H)-trione
Lithate
Lithic acid
Purine-2,6,8(1H,3H,9H)-trione
Urate
Uric acid
10COLANutraceutical1824
11PsylliumNutraceutical44

Interventional clinical trials:

(show all 22)
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 StudyRecruitingNCT01185210Phase 2
5Is the Expression of the GLUT5 Specific Fructose Transport Protein Abnormal in Patients With Fructose Intolerance?CompletedNCT01705171
6Endomicroscopy, IBS and Food IntoleranceCompletedNCT01692613
7Effect of Fructose on Colonic MicrofloraCompletedNCT00775567
8Glycemic Effects of HoneyCompletedNCT01371266
9The Effect of Probiotics on Lactose IntoleranceCompletedNCT01593800
10Anti-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
11Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682
12Irritable Bowel Syndrome and Low FODMAP DietRecruitingNCT02188680
13The Effects of Lactose Intolerance on Gastrointestinal Function and Symptoms in a Chinese PopulationRecruitingNCT01286597
14Fructose and Lactose Intolerance and Malabsorption in Functional Gastrointestinal DisordersActive, not recruitingNCT02085889
15Meta-analyses of Fructose and Cardiometabolic RiskActive, not recruitingNCT01363791
16Meta-analyses of the Effect of 'Catalytic' Doses of Fructose and Its Epimers on Carbohydrate MetabolismActive, not recruitingNCT02776722
17Meta-analysis of Fructose-Containing Sugar Sweetened Beverages (SSBs) and Weight ChangeActive, not recruitingNCT01608607
18Meta-analyses of the Effect of Important Food Sources of Sugars on Cardiometabolic Risk FactorsActive, not recruitingNCT02716870
19Meta-analyses of the Effect of Sucrose Versus High Fructose Corn Syrup on Cardiometabolic RiskActive, not recruitingNCT02702479
20Meta-analyses of Total and Individual Fructose-containing Sugars and Incident Cardiometabolic DiseaseActive, not recruitingNCT01608620
21Fructose Breath-testing in Irritable Bowel Syndrome (IBS)Not yet recruitingNCT02614313
22Long 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 Intolerance23 ALDOB

Anatomical Context for Fructose Intolerance

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MalaCards organs/tissues related to Fructose Intolerance:

34
Liver, Kidney, Testes, Colon

Animal Models for Fructose Intolerance or affiliated genes

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MGI Mouse Phenotypes related to Fructose Intolerance:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3ALDOB, CCND3, CDK2, GLUL, MANBA, MAPK1
2MP:00053766.7ALG2, CCND3, CDK2, CLU, GLUL, MAPK1

Publications for Fructose Intolerance

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Articles related to Fructose Intolerance:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Lactose and Fructose Intolerance in Turkish Children with Chronic Abdominal Pain. (27254047)
2016
2
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. (25595217)
2015
3
Hereditary fructose intolerance in Brazilian patients. (26937407)
2015
4
Self-reported dietary fructose intolerance in irritable bowel syndrome: Proposed diagnostic criteria. (25987795)
2015
5
Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. (25637246)
2015
6
Fructose intolerance/malabsorption and recurrent abdominal pain in children. (25363950)
2014
7
Fruit-induced FPIES masquerading as hereditary fructose intolerance. (25002667)
2014
8
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. (22375183)
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
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. (23430936)
2012
12
Non responsive celiac disease due to coexisting hereditary fructose intolerance. (22461154)
2012
13
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (20882353)
2010
14
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (20033295)
2010
15
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
16
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. (18188031)
2008
17
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. (17955389)
2007
18
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. (17457694)
2007
19
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (15880727)
2005
20
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. (15532022)
2004
21
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (12417303)
2002
22
Simple method for detection of mutations causing hereditary fructose intolerance. (12638940)
2002
23
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency. (10869005)
2000
24
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. (11021009)
2000
25
Hereditary fructose intolerance. (9610797)
1998
26
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. (8933337)
1996
27
A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. (8829634)
1996
28
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (8535439)
1995
29
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (8299883)
1994
30
Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. (8162030)
1994
31
Congenital fructose intolerance. New molecular aspects]. (7809888)
1994
32
Aldolase B and fructose intolerance. (8299892)
1994
33
Hereditary Fructose Intolerance (26677512)
1993
34
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. (8096362)
1993
35
DNA diagnosis of fatal fructose intolerance from archival tissue. (8438046)
1993
36
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. (1856829)
1991
37
Case report: heterogeneity of aldolase B in hereditary fructose intolerance. (1772121)
1991
38
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. (1928090)
1991
39
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. (2336380)
1990
40
Molecular analysis of aldolase B genes in hereditary fructose intolerance. (1967768)
1990
41
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. (2203259)
1990
42
Determination of fructose metabolic pathways in normal and fructose-intolerant children: a 13C NMR study using [U-13C]fructose. (2371280)
1990
43
Hereditary fructose intolerance. (2207353)
1990
44
Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia. (3587991)
1987
45
Fructose-induced hyperuricemia: observations in normal children and in patients with hereditary fructose intolerance and galactosemia. (1187240)
1975
46
Hereditary alterations of fructose metabolizing enzymes. Studies on essential fructosuria and on hereditary fructose intolerance. (4579756)
1972
47
Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)
1971
48
Essential fructosuria and hereditary fructose intolerance. (5782732)
1969
49
Fructose metabolism. IV. Enzyme deficiencies: essential fructosuria, fructose intolerance, and glycogen-storage disease. (4875257)
1968
50
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

Variations for Fructose Intolerance

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

68 (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 22)
id Gene Variation Type Significance SNP ID Assembly Location
1ALDOBNM_000035.3(ALDOB): c.1013C> T (p.Ala338Val)single nucleotide variantLikely pathogenicrs77718928GRCh37Chr 9, 104184173: 104184173
2ALDOBNM_000035.3(ALDOB): c.324G> A (p.Lys108=)single nucleotide variantLikely pathogenicrs750026492GRCh38Chr 9, 101429755: 101429755
3ALDOBNM_000035.3(ALDOB): c.612T> A (p.Tyr204Ter)single nucleotide variantLikely pathogenic, Pathogenicrs370793608GRCh38Chr 9, 101426567: 101426567
4ALDOBNM_000035.3(ALDOB): c.625-2A> Gsingle nucleotide variantLikely pathogenicrs786204503GRCh38Chr 9, 101425629: 101425629
5ALDOBNM_000035.3(ALDOB): c.360_363delCAAA (p.Asn120Lysfs)deletionLikely pathogenic, Pathogenicrs387906225GRCh38Chr 9, 101428485: 101428488
6ALDOBNM_000035.3(ALDOB): c.113-1_115delGGTAdeletionLikely pathogenicrs786204598GRCh37Chr 9, 104192246: 104192249
7ALDOBNM_000035.3(ALDOB): c.324+1G> Asingle nucleotide variantPathogenicrs764826805GRCh37Chr 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)single nucleotide variantPathogenicrs41281039GRCh37Chr 9, 104192225: 104192225
11ALDOBNM_000035.3(ALDOB): c.1027T> C (p.Tyr343His)single nucleotide variantPathogenicrs369586696GRCh37Chr 9, 104184159: 104184159
12ALDOBNM_000035.3(ALDOB): c.448G> C (p.Ala150Pro)single nucleotide variantPathogenicrs1800546GRCh37Chr 9, 104189856: 104189856
13ALDOBNM_000035.3(ALDOB): c.524C> A (p.Ala175Asp)single nucleotide variantPathogenicrs76917243GRCh37Chr 9, 104189780: 104189780
14ALDOBNM_000035.3(ALDOB): c.865_867delCTT (p.Leu289del)deletionPathogenicrs118204425GRCh37Chr 9, 104187257: 104187259
15ALDOBNM_000035.3(ALDOB): c.720C> A (p.Cys240Ter)single nucleotide variantPathogenicrs118204426GRCh37Chr 9, 104187814: 104187814
16ALDOBNM_000035.3(ALDOB): c.1005C> G (p.Asn335Lys)single nucleotide variantPathogenicrs78340951GRCh37Chr 9, 104184181: 104184181
17ALDOBALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8indelPathogenic
18ALDOBNM_000035.3(ALDOB): c.10C> T (p.Arg4Ter)single nucleotide variantLikely pathogenic, Pathogenicrs118204428GRCh37Chr 9, 104193160: 104193160
19ALDOBNM_000035.3(ALDOB): c.178C> T (p.Arg60Ter)single nucleotide variantLikely pathogenic, Pathogenicrs118204429GRCh37Chr 9, 104192183: 104192183
20ALDOBALDOB, IVS6AS, G-A, -1single nucleotide variantPathogenic
21ALDOBNM_000035.3(ALDOB): c.547_552delCTGGTA (p.Leu183_Val184del)deletionPathogenicrs387906226GRCh37Chr 9, 104188909: 104188914
22ALDOBNM_000035.3(ALDOB): c.442T> C (p.Trp148Arg)single nucleotide variantPathogenicrs118204430GRCh37Chr 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:000030710.1CCND3, 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:006039710.1MAPK1, PTPN1
2positive regulation of cyclin-dependent protein serine/threonine kinase activityGO:00457379.7CCND3, CCNH
3platelet degranulationGO:00025768.8CLU, 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:00083539.9CCNH, MAPK1
2protein kinase bindingGO:00199019.0CCND3, MAPK1, PTPN1, TRAF3
3kinase activityGO:00163018.8CCNH, CDK2, IRAK1, MAPK1

Sources for Fructose Intolerance

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet