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 51 25 12 38
Hereditary Fructose Intolerance 23 47 24 25 53 69 49
Hereditary Fructose Intolerance Syndrome 11 13 67
Fructosemia 11 24 25
Fructose-1,6-Bisphosphate Aldolase B Deficiency 11 47
Fructose-1-Phosphate Aldolase Deficiency 47 25
Fructose Intolerance, Hereditary 51 47
Aldolase B Deficiency 47 25
 
Aldob Deficiency 47 25
Hereditary Fructose-1-Phosphate Aldolase Deficiency 53
Fructose-1,6-Biphosphate Aldolase Deficiency 25
Fructose Aldolase B Deficiency 25
Hereditary Fructosemia 53
Fructosaemia 11
Hfi 69

Characteristics:

Orphanet epidemiological data:

53
hereditary fructose intolerance:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy

HPO:

63
fructose intolerance:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 229600
Disease Ontology11 DOID:9869
ICD1029 E74.12
ICD9CM31 271.2
MeSH38 D005633
NCIt44 C84720
Orphanet53 ORPHA469
MESH via Orphanet39 D005633
ICD10 via Orphanet30 E74.1
MedGen36 C0016751

Summaries for Fructose Intolerance

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NIH Rare Diseases:47 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 liver/biliary system and homeostasis/metabolism.

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

UniProtKB/Swiss-Prot:69 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.

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 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:

 63 (show all 29)
id Description HPO Frequency HPO Source Accession
1 proximal tubulopathy63 HP:0000114
2 jaundice63 HP:0000952
3 intellectual disability63 HP:0001249
4 seizures63 HP:0001250
5 lethargy63 HP:0001254
6 coma63 HP:0001259
7 cirrhosis63 HP:0001394
8 hepatic steatosis63 HP:0001397
9 failure to thrive63 HP:0001508
10 metabolic acidosis63 HP:0001942
11 hypoglycemia63 HP:0001943
12 vomiting63 HP:0002013
13 nausea63 HP:0002018
14 abdominal pain63 HP:0002027
15 proximal renal tubular acidosis63 HP:0002049
16 hypophosphatemia63 HP:0002148
17 hyperuricemia63 HP:0002149
18 gastrointestinal hemorrhage63 HP:0002239
19 hepatomegaly63 HP:0002240
20 hyperbilirubinemia63 HP:0002904
21 elevated hepatic transaminases63 HP:0002910
22 glycosuria63 HP:0003076
23 hyperphosphaturia63 HP:0003109
24 lactic acidosis63 HP:0003128
25 hyperuricosuria63 HP:0003149
26 bicarbonaturia63 HP:0003646
27 malnutrition63 HP:0004395
28 fructose intolerance63 HP:0005973
29 transient aminoaciduria63 HP:0008273

UMLS symptoms related to Fructose Intolerance:


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

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:

35
Liver, Testes, Colon

Animal Models for Fructose Intolerance or affiliated genes

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MGI Mouse Phenotypes related to Fructose Intolerance:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6ALDOB, CCND3, CDK2, GLUL, MANBA, MAPK1
2MP:00053767.4ALG2, CCND3, CDK2, CLU, GLUL, MAPK1

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
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. (22375183)
2012
11
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. (23114028)
2012
12
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance. (22713622)
2012
13
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. (23430936)
2012
14
Non responsive celiac disease due to coexisting hereditary fructose intolerance. (22461154)
2012
15
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (20882353)
2010
16
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (20033295)
2010
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
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. (17955389)
2007
20
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. (17457694)
2007
21
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (15880727)
2005
22
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. (15532022)
2004
23
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (12417303)
2002
24
Simple method for detection of mutations causing hereditary fructose intolerance. (12638940)
2002
25
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency. (10869005)
2000
26
Hereditary fructose intolerance. (9610797)
1998
27
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. (8933337)
1996
28
A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. (8829634)
1996
29
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (8535439)
1995
30
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (8299883)
1994
31
Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. (8162030)
1994
32
Congenital fructose intolerance. New molecular aspects]. (7809888)
1994
33
Aldolase B and fructose intolerance. (8299892)
1994
34
Hereditary Fructose Intolerance (26677512)
1993
35
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. (8096362)
1993
36
DNA diagnosis of fatal fructose intolerance from archival tissue. (8438046)
1993
37
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. (1856829)
1991
38
Case report: heterogeneity of aldolase B in hereditary fructose intolerance. (1772121)
1991
39
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. (1928090)
1991
40
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. (2336380)
1990
41
Molecular analysis of aldolase B genes in hereditary fructose intolerance. (1967768)
1990
42
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. (2203259)
1990
43
Determination of fructose metabolic pathways in normal and fructose-intolerant children: a 13C NMR study using [U-13C]fructose. (2371280)
1990
44
Hereditary fructose intolerance. (2207353)
1990
45
Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia. (3587991)
1987
46
Fructose-induced hyperuricemia: observations in normal children and in patients with hereditary fructose intolerance and galactosemia. (1187240)
1975
47
Hereditary alterations of fructose metabolizing enzymes. Studies on essential fructosuria and on hereditary fructose intolerance. (4579756)
1972
48
Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)
1971
49
Essential fructosuria and hereditary fructose intolerance. (5782732)
1969
50
Fructose metabolism. IV. Enzyme deficiencies: essential fructosuria, fructose intolerance, and glycogen-storage disease. (4875257)
1968

Variations for Fructose Intolerance

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

69 (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:000030710.1CCND3, 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
1positive regulation of cyclin-dependent protein serine/threonine kinase activityGO:00457379.7CCND3, CCNH
2JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.6MAPK1, PTPN1
3platelet degranulationGO:00025768.5CLU, 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:000835310.0CCNH, MAPK1
2protein kinase bindingGO:00199019.0CCND3, MAPK1, PTPN1, TRAF3
3kinase activityGO:00163018.3CCNH, CDK2, IRAK1, MAPK1

Sources for Fructose Intolerance

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet