MCID: FRC002
MIFTS: 60

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 49 11 23 36
Hereditary Fructose Intolerance 21 45 22 23 47 51 67
Hereditary Fructose Intolerance Syndrome 10 12 65
Fructosemia 10 22 23
Fructose-1,6-Bisphosphate Aldolase B Deficiency 10 45
Fructose-1-Phosphate Aldolase Deficiency 45 23
Aldolase B Deficiency 45 23
Aldob Deficiency 45 23
 
Hereditary Fructose-1-Phosphate Aldolase Deficiency 51
Fructose-1,6-Biphosphate Aldolase Deficiency 23
Fructose Intolerance, Hereditary 45
Fructose Aldolase B Deficiency 23
Hereditary Fructosemia 51
Fructosaemia 10
Hfi 67

Characteristics:

Orphanet epidemiological data:

51
hereditary fructose intolerance:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
fructose intolerance:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 229600
Disease Ontology10 DOID:9869
ICD1027 E74.12
ICD9CM29 271.2
MeSH36 D005633
NCIt42 C84720
Orphanet51 469
ICD10 via Orphanet28 E74.1
MESH via Orphanet37 D005633
MedGen34 C0016751
UMLS65 C0016751

Summaries for Fructose Intolerance

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NIH Rare Diseases:45 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 transient aminoaciduria, fructose intolerance and malnutrition. An important gene associated with Fructose Intolerance is ALDOB (Aldolase, Fructose-Bisphosphate B), and among its related pathways are Pentose phosphate pathway and Serotonin Receptor 2 and ELK-SRF/GATA4 signaling. Affiliated tissues include liver, kidney and testes, and related mouse phenotypes are liver/biliary system and behavior/neurological.

Genetics Home Reference:23 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:49 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:67 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:68 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 transient aminoaciduria HP:0008273
2 fructose intolerance HP:0005973
3 malnutrition HP:0004395
4 bicarbonaturia HP:0003646
5 hyperuricosuria HP:0003149
6 lactic acidosis HP:0003128
7 hyperphosphaturia HP:0003109
8 glycosuria HP:0003076
9 elevated hepatic transaminases HP:0002910
10 hyperbilirubinemia HP:0002904
11 hepatomegaly HP:0002240
12 gastrointestinal hemorrhage HP:0002239
13 hyperuricemia HP:0002149
14 hypophosphatemia HP:0002148
15 proximal renal tubular acidosis HP:0002049
16 abdominal pain HP:0002027
17 nausea HP:0002018
18 vomiting HP:0002013
19 hypoglycemia HP:0001943
20 metabolic acidosis HP:0001942
21 failure to thrive HP:0001508
22 hepatic steatosis HP:0001397
23 cirrhosis HP:0001394
24 coma HP:0001259
25 lethargy HP:0001254
26 seizures HP:0001250
27 intellectual disability HP:0001249
28 jaundice HP:0000952
29 proximal tubulopathy HP:0000114

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 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydrocortisoneapprovedPhase 458350-23-75754, 657311
Synonyms:
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
1 Hydrocortisone maximum strength
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
999 Itch Relieving
A-hydrocort
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Advanced Hydrocortisone
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti Itch
Anti Itch maximum strength
Anti Itch maximum strength plus
Anti-inflammatory hormone
Anti-itch
Anti-itch Scalp Relief Maximum Strength
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Apres Peel Soothing Balm
Aquacort
Aquanil HC
Atopalm Maximum Strength Anti-itch
Atopalm Moisturizing Hydrocortisone
Aveeno Hydrocortisone Anti Itch
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
Bioelements Immediate Comfort Hydrocortisone
Budpak Anti-itch
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Caldecort
Care One Hydrocortisone maximum strength
Cetacort
Chronocort
Cicatricure Ultra Moisturizing
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortaid 12-hour Advanced Anti-Itch
Cortaid Intensive Therapy Cooling
Cortaid Maximum Strength
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisone
Cortisone Cream Intensive Healing
Cortisone Maximum Strength
Cortisone maximum strength
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortizone 10
Cortizone 10 Cooling Cream Anti-itch
Cortizone 10 Cooling Relief
Cortizone 10 Easy Relief
Cortizone 10 Hydratensive Healing Anti Itch
Cortizone 10 Hydratensive Soothing Anti Itch
Cortizone 10 Intensive Healing
Cortizone 10 Intensive Healing Feminine Itch Relief
Cortizone 10 Intensive Healing For Eczema
Cortizone 10 Plus
Cortizone 10 Poison Ivy Relief Pads
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cvs Anti-itch Hydrocortisone
Cvs Cools Itch Fast
Cvs Cortisone
Cvs Pharmacy Anti-itch
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermacort Anti-Itch
Dermaquest Skin Therapy Post-skin Resurfacing Balm
Dermarest Eczema Medicated
Dermaspray
Dermil
Dermocortal
Dermolate
Dg Health Hydrocortisone
Dg Health Hydrocortisone Cream Maximum Strength
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Dr. Sheffield Hydrocortisone Anti Itch
Drotic
Duane Reade
Duane Reade hydrocortisone
Duane Reade hydrocortisone plus 12 moisturizers
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Equaline Anti Itch
Equaline Anti Itch maximum strength
Equate Hydrocortisone
Esiderm H
Evacort
Family Care Hydrocortisone
Family Wellness
Family Wellness Hydrocortisone
Family Wellness Maximum Strength Hydrocortisone
Ficortril
Fiocortril
Fixmyskin Healing Balm Fragrance-free
Fixmyskin Healing Balm Unflavored
Fixmyskin Healing Balm Vanilla Flavor
Fixmyskin Healing Balm Vanilla Fragrance
Flexicort
Foille Insetti
Formu Care Anti Itch maximum strength
Fulton Street Market Anti Itch
Genacort
Genacort (lotion)
Genuine Hydrocortisone
Glycort
Good Neighbor Pharmacy Anti Itch
Good Neighbor Pharmacy Hydrocortisone
Good Neighbor Pharmacy Hydrocortisone Plus 12 Moisturizers
Good Sense Anti Itch
Gyno-Cortisone
H 4001
H-Cort
H-releve Anti-itch
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
Healerz For Itches
Health Mart Pharmacy Hydrocortisone Maximum Strength Plus 12 Moisturizers
Healthy Accents Cortisone maximum strength
Heb Cort
Heb-Cort
 
Hem-easy Relief Herbal Anti-itch Maximum Itch Relief
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro Skin
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone 1 plus 10
Hydrocortisone Acetate
Hydrocortisone Anti-itch Plus
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone D
Hydrocortisone HC
Hydrocortisone Intensive Healing Formula
Hydrocortisone Maximum Strength
Hydrocortisone Maximum Strength Plus 12 Moisturizers
Hydrocortisone Plus
Hydrocortisone Plus 12 Moisturizers
Hydrocortisone Probutate
Hydrocortisone Regular Strength
Hydrocortisone Sodium Phosphate
Hydrocortisone Ultra Strength
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone anti itch
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone maximum strength
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
Intensive Healing Anti Itch
Kaiser Permanente Hydrocortisone
Kendall'S compound F
Kendall's compound F
Kera Hc Hydrocortisone
Kirkland Signature Hydrocortisone Plus maximum strength
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Leader Hydrocortisone
Locoid
Loesch Anti-Itch Therapy
Lopac0_000594
Lubricort
Lucky Supersoft MAXIMUM STRENGTH
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Makesense MAXIMUM STRENGTH
Maximum Strength Cortizone 10 Quick Shot 360 Continuous
Maximum Strength Hydrocortisone
Maximum-h
Medicort
Medpride
Meijer Anti Itch
Meijer Anti Itch Cream Plus
Meijer Hydrocortisone
Meijer Hydrocortisone Plus 12 Moisturizers
Members Mark Hydrocortisone
Meusicort
Mildison
Milliderm
MolPort-001-794-637
Monistat Complete Care Instant Itch Relief
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Natureplex Hydrocortisone Hydro
Neo-Cort-Dome
Neo-Cortef
Neosporin Eczema Essentials Anti Itch
Neosporin-H Ear
Nogenic HC
Nu-derm Tolereen Anti-pruritic
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pandel
Pediaderm Hc
Pediotic Suspension
Penecort
Permicort
Piyanping Antiitch
Polcort H
Premier Value Hydrocortisone
Premier Value Hydrocortisone Plus 12 Moisturizers
Preparation H Hydrocortisone
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proactiv Solution Anti-itch Scalp
Procto-pak
Proctocort
Proctocream HC
Proctofoam
Proctosol-hc
Proctozone HC
Procure
Protocort
Publix Hydro
Publix hydro plus
Quadrydern
Quality Choice Hydrocortisone
Quality Choice Hydrocortisone Maximum Strength
Quality Choice Maximum Strength Anti Itch
Racet
Rectasol-HC
Rectoid
Refuge Hc
Reichstein'S substance M
Reichstein's substance M
Remederm HC
Rexall Anti Itch maximum strength relief
Rexall Hydrocortisone 1
Rexall Hydrocortisone plus moisturizers
Rite Aid anti-itch
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Safeway Hydrocortisone Plus 12 Moisturizers
Sanatison
Scalp-Cort
Scalpicin Anti-Itch Maximum Strength
Scalpicin Capilar
Scalpicin Maximum Strength
Scalpicin Scalp Itch Medication Maximum Strength
Schericur
Scheroson F
Shopko Hydrocortisone
Shopko Hydrocortisone Intensive Healing Formula
Shopko Hydrocortisone Maximum Strength
Shopko Hydrocortisone Plus 12 Moisturizers Maximum Strength
Shopko Maximum Strength
Shoprite Hydrocortisone
Sigmacort
Signef
Smart Sense Anti Itch
Smart Sense Anti Itch maximum strength
Smart Sense Hydrocortisone
Solu-cortef
Soothe Rodan Fields
Stie-cort
Stiefcorcil
Sunmark Hydrocortisone
Sunmark Hydrocortisone Plus 12 Moisturizers
Synacort
Systral Hydrocort
Tarcortin
Tecnu Corticool
Texacort
Texacort lotion 25
Thera Plus
Timocort
Topcare Hydrocortisone
Topcare Hydrocortisone Intensive Healing Formula
Topcare Hydrocortisone Plus 12 Moisturizers
Topicort
Transderma H
Traumaide
Truelipids Anti-itch Barrier
U-cort
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Walgreens Hydrocortisone Plus 12 Moisturizers
Westcort
Western Family HydroCortisone
Western Family HydroCortisone Plus 12 Moisturizers
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
2Hydrocortisone acetatePhase 4583
3Pharmaceutical SolutionsPhase 47004
4Hydrocortisone-17-butyratePhase 4583
5Hydrocortisone 17-butyrate 21-propionatePhase 4583
6Cortisol succinatePhase 4583
7HormonesPhase 411748
8Corticotropin-Releasing HormonePhase 427
9alanineNutraceuticalPhase 2106
10
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
11
Sorbitolexperimental2450-70-45780
Synonyms:
(-)-Sorbitol
D-Glucitol
D-Sorbitol
D-Sorbol
Diakarmon
Esasorb
Foodol D 70
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
Sorbitol F
Sorbitol FK
Sorbitol FP
Sorbitol S
Sorbitol syrup C
Sorbitur
Sorbo
Sorbogem 712
Sorbol
Sorbostyl
12Hypoglycemic Agents4503
13insulin4278
14Contraceptives, Oral3734
15Insulin, Globin Zinc4278
16Protein C Inhibitor85
17pancreatin880
18Liver Extracts3572
19Alpha 1-Antitrypsin87
20Calcium polycarbophil38
21ColaNutraceutical1768
22PsylliumNutraceutical38

Interventional clinical trials:

(show all 16)
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
15Fructose Breath-testing in Irritable Bowel Syndrome (IBS)Not yet recruitingNCT02614313
16Long 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 Intolerance22 ALDOB

Anatomical Context for Fructose Intolerance

About this section

MalaCards organs/tissues related to Fructose Intolerance:

33
Liver, Kidney, Testes, Colon, Pituitary, T cells, Myeloid

Animal Models for Fructose Intolerance or affiliated genes

About this section

MGI Mouse Phenotypes related to Fructose Intolerance:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0ALDOB, CCND3, CDK2, GLUL, GPI, MANBA
2MP:00053867.6ALDOB, ALG2, CCND3, GLUL, MANBA, MAPK1
3MP:00053857.3ALG2, CCND3, CDK2, GPI, MANBA, MAPK1
4MP:00053786.7ALDOB, CCND3, CDK2, GLUL, GPI, MAPK1
5MP:00053766.5ALG2, CCND3, CDK2, GLUL, GPI, MAPK1
6MP:00107686.5ALDOB, ALG2, CCND3, CDK2, GLUL, GPI

Publications for Fructose Intolerance

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Articles related to Fructose Intolerance:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. (25595217)
2015
2
Hereditary fructose intolerance in Brazilian patients. (26937407)
2015
3
Fruit-induced FPIES masquerading as hereditary fructose intolerance. (25002667)
2014
4
Dietary fructose intolerance, fructan intolerance and FODMAPs. (24357350)
2014
5
Fructose intolerance/malabsorption and recurrent abdominal pain in children. (24667867)
2014
6
Non responsive celiac disease due to coexisting hereditary fructose intolerance. (22461154)
2012
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
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. (23114028)
2012
9
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance. (22713622)
2012
10
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (20882353)
2010
11
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (20033295)
2010
12
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. (20848650)
2010
13
The biochemical basis of hereditary fructose intolerance. (20162364)
2010
14
Is medical nutrition therapy (MNT) the same for hereditary vs dietary fructose intolerance? (20630171)
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
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. (17457694)
2007
17
Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia. (17515832)
2007
18
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. (17955389)
2007
19
Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. (15733923)
2005
20
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (12417303)
2002
21
Simple method for detection of mutations causing hereditary fructose intolerance. (12638940)
2002
22
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. (12205126)
2002
23
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. (12464284)
2002
24
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. (11021009)
2000
25
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency. (10869005)
2000
26
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. (10970798)
2000
27
Screening for hereditary fructose intolerance mutations by reverse dot-blot. (10024431)
1999
28
Hereditary fructose intolerance. (9610797)
1998
29
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (8535439)
1995
30
Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (7717389)
1995
31
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (8299883)
1994
32
Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. (8162030)
1994
33
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. (8071980)
1994
34
Congenital fructose intolerance. New molecular aspects]. (7809888)
1994
35
Aldolase B and fructose intolerance. (8299892)
1994
36
Hereditary Fructose Intolerance (26677512)
1993
37
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. (8096362)
1993
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
Hereditary fructose intolerance. (2207353)
1990
41
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. (2336380)
1990
42
Molecular analysis of aldolase B genes in hereditary fructose intolerance. (1967768)
1990
43
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. (2203259)
1990
44
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. (3383242)
1988
45
Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia. (3587991)
1987
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:

67 (show all 16)
id Symbol AA change Variation ID SNP ID
1ALDOBp.Cys135ArgVAR_000551
2ALDOBp.Ala150ProVAR_000553rs1800546
3ALDOBp.Ala175AspVAR_000554rs76917243
4ALDOBp.Leu257ProVAR_000555
5ALDOBp.Arg304TrpVAR_000556
6ALDOBp.Asn335LysVAR_000557
7ALDOBp.Ala338ValVAR_000558
8ALDOBp.Ile74ThrVAR_020822
9ALDOBp.Pro185ArgVAR_020824
10ALDOBp.Val222PheVAR_020826
11ALDOBp.Leu229ProVAR_020827
12ALDOBp.Arg304GlnVAR_020828rs145078268
13ALDOBp.Cys178ArgVAR_058211
14ALDOBp.Leu284ProVAR_058212
15ALDOBp.Arg46TrpVAR_075348rs41281039
16ALDOBp.Tyr343HisVAR_075349

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 pathogenicrs750026492GRCh37Chr 9, 104192037: 104192037
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 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> Asingle nucleotide variantPathogenicrs764826805GRCh37Chr 9, 104192036: 104192036
8ALDOBNM_000035.3(ALDOB): c.865delC (p.Leu289Phefs)deletionPathogenicrs864309533GRCh38Chr 9, 101424977: 101424977
9ALDOBNG_012387.1: g.7841_14288del6448deletionPathogenicGRCh37Chr 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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Pathways related to Fructose Intolerance according to GeneCards Suite gene sharing:

(show all 49)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6ALDOB, GPI, TALDO1
29.6MAPK1, RAF1
39.6MAPK1, RAF1
49.4MAPK1, PIK3CA
5
Show member pathways
9.4ALDOB, GLUL, GPI, TALDO1
69.3GPI, MAPK1, PTPN1
79.3CCND3, MAPK1, RAF1
8
Show member pathways
9.3MAPK1, PTPN1, RAF1
99.2GPI, MAPK1, RAF1
109.2CCND3, CDK2, RAF1
119.1MAPK1, PIK3CA, TF
129.1MAPK1, PIK3CA, PTPN1
139.1CDK2, MAPK1, RAF1
149.1CDK2, MAPK1, RAF1
159.1PIK3CA, PTPN1, RAF1
169.0MAPK1, PIK3CA, RAF1
17
Show member pathways
9.0MAPK1, PIK3CA, RAF1
18
Show member pathways
9.0MAPK1, PIK3CA, RAF1
199.0MAPK1, PIK3CA, RAF1
209.0MAPK1, PIK3CA, RAF1
219.0MAPK1, PIK3CA, RAF1
229.0MAPK1, PIK3CA, RAF1
239.0MAPK1, PIK3CA, RAF1
249.0MAPK1, PIK3CA, RAF1
259.0MAPK1, PIK3CA, RAF1
26
Show member pathways
9.0MAPK1, PIK3CA, RAF1
279.0MAPK1, PIK3CA, RAF1
28
Show member pathways
9.0MAPK1, PIK3CA, RAF1
299.0MAPK1, PIK3CA, RAF1
309.0MAPK1, PIK3CA, RAF1
31
Show member pathways
9.0MAPK1, PIK3CA, RAF1
32
Show member pathways
8.9CCND3, GPI, MAPK1, RAF1
33
Show member pathways
8.8CCND3, CDK2, MAPK1, RAF1
34
Show member pathways
8.8CCND3, CDK2, MAPK1, RAF1
35
Show member pathways
8.7CCND3, CCNH, CDK2, MAPK1
36
Show member pathways
8.7CCND3, MAPK1, PIK3CA, RAF1
37
Show member pathways
8.7CCND3, CCNH, CDK2, RAF1
38
Show member pathways
8.6MAPK1, PIK3CA, PTPN1, RAF1
398.6MAPK1, PIK3CA, PTPN1, RAF1
408.6CCND3, CDK2, MAPK1, PIK3CA
41
Show member pathways
8.5CDK2, MAPK1, PIK3CA, RAF1
42
Show member pathways
8.5CDK2, MAPK1, PIK3CA, RAF1
43
Show member pathways
8.5CDK2, MAPK1, PIK3CA, RAF1
448.5CDK2, MAPK1, PIK3CA, RAF1
45
Show member pathways
8.2CCND3, CDK2, MAPK1, PIK3CA, RAF1
468.2CCND3, CDK2, MAPK1, PIK3CA, RAF1
478.2CCND3, CDK2, MAPK1, PIK3CA, RAF1
48
Show member pathways
8.1CDK2, GPI, MAPK1, PIK3CA, RAF1
49
Show member pathways
7.0CDK2, MAPK1, PIK3CA, PTPN1, RAF1, SERPINA1

GO Terms for genes affiliated with Fructose Intolerance

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

idNameGO IDScoreTop Affiliating Genes
1Ras protein signal transductionGO:00072658.8CDK2, MAPK1, RAF1
2insulin receptor signaling pathwayGO:00082868.6MAPK1, PIK3CA, PTPN1, RAF1
3platelet activationGO:00301688.5MAPK1, PIK3CA, PTPN1, RAF1

Sources for Fructose Intolerance

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet