HFI
MCID: FRC011
MIFTS: 55

Fructose Intolerance, Hereditary (HFI)

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

Aliases & Classifications for Fructose Intolerance, Hereditary

MalaCards integrated aliases for Fructose Intolerance, Hereditary:

Name: Fructose Intolerance, Hereditary 57 20 39
Hereditary Fructose Intolerance 73 25 20 43 58 72 36 54 6
Fructose-1,6-Bisphosphate Aldolase B Deficiency 57 12 20
Fructose-1-Phosphate Aldolase Deficiency 57 20 43
Hereditary Fructose Intolerance Syndrome 12 15 70
Aldolase B Deficiency 57 20 43
Fructose Intolerance 43 13 44
Aldob Deficiency 57 20 43
Fructosemia 57 12 43
Hfi 57 72
Hereditary Fructose-1-Phosphate Aldolase Deficiency 58
Fructose-1,6-Biphosphate Aldolase Deficiency 43
Fructose Aldolase B Deficiency 43
Hereditary Fructosemia 58
Fructosaemia 12

Characteristics:

Orphanet epidemiological data:

58
hereditary fructose intolerance
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy after weaning
symptoms can be prevented by strict dietary restriction
persistent exposure to fructose leads to chronic liver and kidney complications
some patients with heterozygous mutations may be symptomatic


HPO:

31
fructose intolerance, hereditary:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Fructose Intolerance, Hereditary

MedlinePlus Genetics : 43 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).Repeated ingestion of fructose-containing foods can lead to liver and kidney damage. The liver damage can result in a yellowing of the skin and whites of the eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis). Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. Due to the severity of symptoms experienced when fructose is ingested, most people with hereditary fructose intolerance develop a dislike for fruits, juices, and other foods containing fructose.Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. Fructose malabsorption is thought to affect approximately 40 percent of individuals in the Western hemisphere; its cause is unknown.

MalaCards based summary : Fructose Intolerance, Hereditary, also known as hereditary fructose intolerance, is related to fructosuria, essential and congenital disorders of n-linked glycosylation and multiple pathway, and has symptoms including seizures, vomiting and abdominal pain. An important gene associated with Fructose Intolerance, Hereditary is ALDOB (Aldolase, Fructose-Bisphosphate B), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Glycosaminoglycan metabolism. The drugs Calcium polycarbophil and Uric acid have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and brain, and related phenotypes are abdominal pain and reduced aldolase level

GARD : 20 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.

OMIM® : 57 Hereditary fructose intolerance (HFI) becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance. (229600) (Updated 05-Apr-2021)

KEGG : 36 Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney. Aldolase is the enzyme that converts fructose 6P (a six-carbon compound) to glycerone-P and glyceraldehyde-3P (two three-carbon compounds).

UniProtKB/Swiss-Prot : 72 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 : 73 Hereditary fructose intolerance is an inborn error of fructose metabolism caused by a deficiency of the... more...

GeneReviews: NBK333439

Related Diseases for Fructose Intolerance, Hereditary

Diseases related to Fructose Intolerance, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 fructosuria, essential 31.6 SLC2A5 KHK
2 congenital disorders of n-linked glycosylation and multiple pathway 30.2 B4GALT1 ALG2
3 fructose-1,6-bisphosphatase deficiency 11.5
4 bile acid synthesis defect, congenital, 2 11.2
5 bile acid synthesis defect, congenital, 1 11.2
6 autosomal recessive disease 10.6
7 liver disease 10.5
8 hyperuricemia 10.4
9 non-alcoholic fatty liver disease 10.4
10 renal tubular acidosis 10.4
11 hypophosphatemia 10.3
12 celiac disease 1 10.2
13 metabolic acidosis 10.2
14 lactic acidosis 10.2
15 disorder of fructose metabolism 10.2
16 acute liver failure 10.2
17 lactose intolerance 10.2
18 galactosemia i 10.2
19 tay-sachs disease 10.2
20 congenital disorder of glycosylation, type iip 10.2 MAN1B1 ALG2
21 ocular motor apraxia 10.2
22 phenylketonuria 10.2
23 gout 10.2
24 dental caries 10.2
25 carbohydrate metabolic disorder 10.2
26 muscular dystrophy-dystroglycanopathy , type c, 14 10.1 ANO5 ALG14
27 spinocerebellar ataxia, autosomal recessive 10 10.1 ANO5 ALG14
28 congenital disorder of glycosylation, type iii 10.1 B4GALT1 ALG2
29 hyperostosis frontalis interna 10.1
30 hyperostosis 10.1
31 hypermethioninemia 10.0
32 diarrhea 10.0
33 constipation 10.0
34 myasthenic syndrome, congenital, 14 10.0 ALG2 ALG14
35 renal tubular acidosis, proximal 10.0
36 strabismus 10.0
37 type 1 diabetes mellitus 10.0
38 enterocolitis 10.0
39 hyper-beta-alaninemia 10.0
40 sudden infant death syndrome 10.0
41 lowe oculocerebrorenal syndrome 10.0
42 muscular dystrophy, duchenne type 10.0
43 fatty liver disease, nonalcoholic 1 10.0
44 alpha-1-antitrypsin deficiency 10.0
45 mucolipidosis 10.0
46 infantile liver failure syndrome 10.0
47 rickets 10.0
48 fanconi syndrome 10.0
49 cystinosis 10.0
50 disseminated intravascular coagulation 10.0

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



Diseases related to Fructose Intolerance, Hereditary

Symptoms & Phenotypes for Fructose Intolerance, Hereditary

Human phenotypes related to Fructose Intolerance, Hereditary:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
2 reduced aldolase level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012545
3 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
4 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
5 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
6 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
7 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
8 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
9 hypophosphatemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002148
10 hyperuricemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002149
11 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
12 metabolic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001942
13 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
14 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0012622
15 chronic hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0100626
16 hypermagnesemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002918
17 reactive hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012051
18 abnormality of the coagulation cascade 58 31 occasional (7.5%) Occasional (29-5%) HP:0003256
19 episodic hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001069
20 cataract 58 31 very rare (1%) Very rare (<4-1%) HP:0000518
21 lethargy 58 31 very rare (1%) Very rare (<4-1%) HP:0001254
22 coma 58 31 very rare (1%) Very rare (<4-1%) HP:0001259
23 seizure 31 very rare (1%) HP:0001250
24 intellectual disability 31 HP:0001249
25 seizures 58 Very rare (<4-1%)
26 failure to thrive 31 HP:0001508
27 renal insufficiency 58 Occasional (29-5%)
28 hypoglycemia 31 HP:0001943
29 hepatic steatosis 31 HP:0001397
30 elevated hepatic transaminase 31 HP:0002910
31 cirrhosis 31 HP:0001394
32 proximal renal tubular acidosis 31 HP:0002049
33 gastrointestinal hemorrhage 31 HP:0002239
34 hyperbilirubinemia 31 HP:0002904
35 proximal tubulopathy 31 HP:0000114
36 lactic acidosis 31 HP:0003128
37 glycosuria 31 HP:0003076
38 malnutrition 31 HP:0004395
39 hyperphosphaturia 31 HP:0003109
40 hyperuricosuria 31 HP:0003149
41 bicarbonaturia 31 HP:0003646
42 fructose intolerance 31 HP:0005973
43 transient aminoaciduria 31 HP:0008273

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
lethargy
coma
mental retardation (if untreated)

Abdomen Liver:
hepatomegaly
hepatic steatosis
cirrhosis

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

Genitourinary Kidneys:
proximal renal tubulopathy

Growth Other:
failure to thrive

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

Skin Nails Hair Skin:
jaundice

Head And Neck Teeth:
absent dental caries

Clinical features from OMIM®:

229600 (Updated 05-Apr-2021)

UMLS symptoms related to Fructose Intolerance, Hereditary:


seizures; vomiting; abdominal pain; lethargy; nausea; icterus

Drugs & Therapeutics for Fructose Intolerance, Hereditary

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium polycarbophil Approved 126040-58-2
2
Uric acid Investigational 69-93-2 1175
3 Pharmaceutical Solutions
4 Cathartics
5 Gastrointestinal Agents
6 Psyllium
7 Laxatives
8
L-Alanine Nutraceutical 56-41-7 5950

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation of Alanine in Fructose Intolerance: A Randomized, Double Blind, Dose Ranging, Placebo Controlled Study Unknown status NCT01185210
2 Is the Expression of the GLUT5 Specific Fructose Transport Protein Abnormal in Patients With Fructose Intolerance? Completed NCT01705171
3 Are Heterozygous Carriers for Hereditary Fructose Intolerance Predisposed to Metabolic Disturbances When Exposed to Fructose? Completed NCT02979106
4 Metabolic Effects of Short-term Dietary Supplementation With Fructose in Carriers for Hereditary Fructose Intolerance Completed NCT03545581
5 Clinical Utility of Carbohydrate Breath Tests in Unexplained GI Symptoms Completed NCT03261856
6 Assessment of Psychological and Metabolic Responses During Fructose Intolerance Breath Tests in Patients With Functional GI Disorders: Placebo-controlled Breath Testing Completed NCT02614313
7 Investigation of Supplemental L-alanine in the Management of Dietary Fructose Intolerance: a Double-blind, Randomized Study Recruiting NCT04022434
8 Fructose and Lactose Intolerance and Malabsorption: the Relationship Between Metabolism and Symptoms in Functional Gastrointestinal Disorders Recruiting NCT02085889
9 Investigation of Supplemental L-alanine in the Management of Dietary Fructose Intolerance: a Double-blind, Randomized Crossover Study Terminated NCT01288495

Search NIH Clinical Center for Fructose Intolerance, Hereditary

Cochrane evidence based reviews: fructose intolerance

Genetic Tests for Fructose Intolerance, Hereditary

Anatomical Context for Fructose Intolerance, Hereditary

MalaCards organs/tissues related to Fructose Intolerance, Hereditary:

40
Liver, Kidney, Brain, Cortex

Publications for Fructose Intolerance, Hereditary

Articles related to Fructose Intolerance, Hereditary:

(show top 50) (show all 348)
# Title Authors PMID Year
1
Hereditary fructose intolerance. 61 54 6 57 25
9610797 1998
2
Partial aldolase B gene deletions in hereditary fructose intolerance. 61 25 54 6 57
2349937 1990
3
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 61 6 25 57
20848650 2010
4
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. 61 57 6 25
18541450 2008
5
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 54 61 57 6
12417303 2002
6
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. 54 57 6 61
8071980 1994
7
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. 54 61 6 57
1856829 1991
8
Molecular analysis of aldolase B genes in hereditary fructose intolerance. 57 61 6 54
1967768 1990
9
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 61 25 6 54
20033295 2010
10
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. 54 61 6 25
16406649 2006
11
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 25 54 6 61
15880727 2005
12
Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications. 57 6 61
10352930 1999
13
Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. 6 57 61
7717389 1995
14
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. 61 57 6
8535439 1995
15
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. 61 57 6
2203259 1990
16
Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. 61 6 57
2623136 1989
17
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 61 6 57
3383242 1988
18
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance. 25 6 61
31591370 2019
19
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas. 61 57 25
29510902 2018
20
Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum. 25 6 61
27797444 2017
21
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. 25 6 61
25595217 2015
22
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. 6 25 61
23114028 2012
23
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 61 6 25
23430936 2012
24
Secondary disorders of glycosylation in inborn errors of fructose metabolism. 61 25 6
19768653 2009
25
Hereditary fructose intolerance and celiac disease: a novel genetic association. 25 6 61
16630753 2006
26
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 61 25 6
12205126 2002
27
Mutation analysis in Turkish patients with hereditary fructose intolerance. 6 25 61
11757579 2001
28
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. 61 25 57
8910943 1996
29
Congenital hereditary fructose intolerance and pregnancy. 61 25 57
2916618 1989
30
Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy. 57 25 61
2889861 1987
31
Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation. 25 57 61
6888454 1983
32
Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients. 25 57 61
655145 1978
33
The association of hereditary fructose intolerance and renal tubular acidosis. 25 57 61
5933765 1966
34
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. 6 54 61
17955389 2007
35
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. 54 6 61
15532022 2004
36
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. 61 54 6
10970798 2000
37
Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis. 54 61 6
10625657 2000
38
Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance. 6 61 54
10229688 1999
39
Aldolase B and fructose intolerance. 6 54 61
8299892 1994
40
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. 54 61 6
8096362 1993
41
DNA diagnosis of fatal fructose intolerance from archival tissue. 54 61 6
8438046 1993
42
Case report: heterogeneity of aldolase B in hereditary fructose intolerance. 54 61 6
1772121 1991
43
Molecular evidence for compound heterozygosity in hereditary fructose intolerance. 54 61 6
2339710 1990
44
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 54 61 6
2336380 1990
45
Fructosaemia: an inborn error of fructose metabolism. 25 57
13930101 1963
46
Hereditary Fructose Intolerance 6 61
26677512 2015
47
Hereditary fructose intolerance in Brazilian patients. 6 61
26937407 2015
48
Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. 57 61
25637246 2015
49
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 61 6
20882353 2010
50
The biochemical basis of hereditary fructose intolerance. 25 54 61
20162364 2010

Variations for Fructose Intolerance, Hereditary

ClinVar genetic disease variations for Fructose Intolerance, Hereditary:

6 (show top 50) (show all 146)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDOB NM_000035.4(ALDOB):c.865_867del (p.Leu289del) Deletion Pathogenic 466 rs118204425 GRCh37: 9:104187257-104187259
GRCh38: 9:101424975-101424977
2 ALDOB NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) SNV Pathogenic 468 rs118204426 GRCh37: 9:104187814-104187814
GRCh38: 9:101425532-101425532
3 ALDOB ALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8 Indel Pathogenic 470 GRCh37:
GRCh38:
4 ALDOB NM_000035.4(ALDOB):c.625-1G>A SNV Pathogenic 473 rs1564077542 GRCh37: 9:104187910-104187910
GRCh38: 9:101425628-101425628
5 ALDOB NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) SNV Pathogenic 475 rs118204430 GRCh37: 9:104189862-104189862
GRCh38: 9:101427580-101427580
6 ALDOB NM_000035.3(ALDOB):c.-10-2043_624+62del Deletion Pathogenic 30978 GRCh37: 9:104188775-104195222
GRCh38: 9:101426493-101432940
7 ALDOB NM_000035.4(ALDOB):c.324+1G>A SNV Pathogenic 218380 rs764826805 GRCh37: 9:104192036-104192036
GRCh38: 9:101429754-101429754
8 ALDOB NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) SNV Pathogenic 555545 rs752902486 GRCh37: 9:104189782-104189782
GRCh38: 9:101427500-101427500
9 ALDOB NC_000009.12:g.(?_101424833)_(101437751_?)del Deletion Pathogenic 832157 GRCh37: 9:104187115-104200033
GRCh38:
10 ALDOB NC_000009.12:g.(?_101426493)_(101437751_?)del Deletion Pathogenic 832254 GRCh37: 9:104188775-104200033
GRCh38:
11 ALDOB NM_000035.4(ALDOB):c.673del (p.Glu225fs) Deletion Pathogenic 939513 GRCh37: 9:104187861-104187861
GRCh38: 9:101425579-101425579
12 ALDOB NM_000035.4(ALDOB):c.43del (p.Glu15fs) Deletion Pathogenic 945121 GRCh37: 9:104193127-104193127
GRCh38: 9:101430845-101430845
13 ALDOB NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) SNV Pathogenic 469 rs78340951 GRCh37: 9:104184181-104184181
GRCh38: 9:101421899-101421899
14 ALDOB NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) SNV Pathogenic 632627 rs370793608 GRCh37: 9:104188849-104188849
GRCh38: 9:101426567-101426567
15 ALDOB NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) SNV Pathogenic 464 rs1800546 GRCh37: 9:104189856-104189856
GRCh38: 9:101427574-101427574
16 ALDOB NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) SNV Pathogenic 465 rs76917243 GRCh37: 9:104189780-104189780
GRCh38: 9:101427498-101427498
17 ALDOB NM_000035.4(ALDOB):c.865del (p.Leu289fs) Deletion Pathogenic 218381 rs864309533 GRCh37: 9:104187259-104187259
GRCh38: 9:101424977-101424977
18 ALDOB NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del) Deletion Pathogenic 474 rs387906226 GRCh37: 9:104188908-104188913
GRCh38: 9:101426626-101426631
19 ALDOB NM_000035.4(ALDOB):c.-11+1G>C SNV Pathogenic 495347 rs181639417 GRCh37: 9:104197990-104197990
GRCh38: 9:101435708-101435708
20 ANO5 NM_213599.2(ANO5):c.692G>T (p.Gly231Val) SNV Pathogenic 2165 rs137854523 GRCh37: 11:22257752-22257752
GRCh38: 11:22236206-22236206
21 ALDOB NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) SNV Pathogenic/Likely pathogenic 550776 rs900220679 GRCh37: 9:104184091-104184091
GRCh38: 9:101421809-101421809
22 ALDOB NM_000035.4(ALDOB):c.356_359CAAA[1] (p.Asn120fs) Microsatellite Pathogenic/Likely pathogenic 188861 rs387906225 GRCh37: 9:104190767-104190770
GRCh38: 9:101428485-101428488
23 ALDOB NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) SNV Pathogenic/Likely pathogenic 472 rs118204429 GRCh37: 9:104192183-104192183
GRCh38: 9:101429901-101429901
24 ALDOB NM_000035.4(ALDOB):c.113-1_115del Deletion Pathogenic/Likely pathogenic 188974 rs786204598 GRCh37: 9:104192246-104192249
GRCh38: 9:101429964-101429967
25 ALDOB NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) SNV Pathogenic/Likely pathogenic 188739 rs77718928 GRCh37: 9:104184173-104184173
GRCh38: 9:101421891-101421891
26 ALDOB NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) SNV Pathogenic/Likely pathogenic 471 rs118204428 GRCh37: 9:104193160-104193160
GRCh38: 9:101430878-101430878
27 ALDOB NM_000035.4(ALDOB):c.324G>A (p.Lys108=) SNV Pathogenic/Likely pathogenic 188779 rs750026492 GRCh37: 9:104192037-104192037
GRCh38: 9:101429755-101429755
28 ALDOB NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) SNV Pathogenic/Likely pathogenic 188782 rs370793608 GRCh37: 9:104188849-104188849
GRCh38: 9:101426567-101426567
29 ALDOB NM_000035.4(ALDOB):c.324+2T>A SNV Pathogenic/Likely pathogenic 370293 rs1057516379 GRCh37: 9:104192035-104192035
GRCh38: 9:101429753-101429753
30 ALDOB NM_000035.4(ALDOB):c.379+1G>A SNV Likely pathogenic 371023 rs138121153 GRCh37: 9:104190750-104190750
GRCh38: 9:101428468-101428468
31 ALDOB NM_000035.4(ALDOB):c.546del (p.Leu183fs) Deletion Likely pathogenic 371208 rs1057517091 GRCh37: 9:104188915-104188915
GRCh38: 9:101426633-101426633
32 ALDOB NM_000035.4(ALDOB):c.112+1del Deletion Likely pathogenic 370497 rs1057516534 GRCh37: 9:104193057-104193057
GRCh38: 9:101430775-101430775
33 ALDOB NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) SNV Likely pathogenic 370966 rs1057516902 GRCh37: 9:104189860-104189860
GRCh38: 9:101427578-101427578
34 ALDOB NM_000035.4(ALDOB):c.420del (p.Asp141fs) Deletion Likely pathogenic 371627 rs1057517421 GRCh37: 9:104189884-104189884
GRCh38: 9:101427602-101427602
35 ALDOB NM_000035.4(ALDOB):c.712dup (p.His238fs) Duplication Likely pathogenic 549988 rs1554702425 GRCh37: 9:104187821-104187822
GRCh38: 9:101425539-101425540
36 ALDOB NM_000035.4(ALDOB):c.287del (p.Asn96fs) Deletion Likely pathogenic 550187 rs1554702890 GRCh37: 9:104192074-104192074
GRCh38: 9:101429792-101429792
37 ALDOB NM_000035.4(ALDOB):c.940dup (p.Trp314fs) Duplication Likely pathogenic 555807 rs1554702328 GRCh37: 9:104187183-104187184
GRCh38: 9:101424901-101424902
38 ALDOB NM_000035.4(ALDOB):c.380-2A>G SNV Likely pathogenic 556271 rs1300461861 GRCh37: 9:104189926-104189926
GRCh38: 9:101427644-101427644
39 ALDOB NM_000035.4(ALDOB):c.325-1G>A SNV Likely pathogenic 558033 rs1402966846 GRCh37: 9:104190806-104190806
GRCh38: 9:101428524-101428524
40 ALDOB NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) SNV Likely pathogenic 551627 rs1554702325 GRCh37: 9:104187183-104187183
GRCh38: 9:101424901-101424901
41 ALDOB NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) SNV Likely pathogenic 552618 rs1172384674 GRCh37: 9:104187160-104187160
GRCh38: 9:101424878-101424878
42 ALDOB NM_000035.4(ALDOB):c.380-1G>A SNV Likely pathogenic 553732 rs1554702666 GRCh37: 9:104189925-104189925
GRCh38: 9:101427643-101427643
43 ALDOB NM_000035.4(ALDOB):c.812del (p.Leu271fs) Deletion Likely pathogenic 553862 rs1554702353 GRCh37: 9:104187312-104187312
GRCh38: 9:101425030-101425030
44 ALDOB NM_000035.4(ALDOB):c.625-2A>G SNV Likely pathogenic 188837 rs786204503 GRCh37: 9:104187911-104187911
GRCh38: 9:101425629-101425629
45 ALDOB NM_000035.4(ALDOB):c.250del (p.Leu84fs) Deletion Likely pathogenic 928611 GRCh37: 9:104192111-104192111
GRCh38: 9:101429829-101429829
46 ALDOB NM_000035.4(ALDOB):c.541-277_651del Deletion Likely pathogenic 938458 GRCh37: 9:104187883-104189197
GRCh38: 9:101425601-101426915
47 ALDOB NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) SNV Likely pathogenic 993008 GRCh37: 9:104187237-104187237
GRCh38: 9:101424955-101424955
48 ALDOB NM_000035.4(ALDOB):c.113-1G>A SNV Likely pathogenic 945681 GRCh37: 9:104192249-104192249
GRCh38: 9:101429967-101429967
49 ALDOB NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs) Indel Likely pathogenic 965705 GRCh37: 9:104184178-104184179
GRCh38: 9:101421896-101421897
50 ALDOB NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter) SNV Likely pathogenic 983977 GRCh37: 9:104189830-104189830
GRCh38: 9:101427548-101427548

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

72 (show all 16)
# Symbol AA change Variation ID SNP ID
1 ALDOB p.Cys135Arg VAR_000551
2 ALDOB p.Ala150Pro VAR_000553 rs1800546
3 ALDOB p.Ala175Asp VAR_000554 rs76917243
4 ALDOB p.Leu257Pro VAR_000555 rs764701775
5 ALDOB p.Arg304Trp VAR_000556 rs555935217
6 ALDOB p.Asn335Lys VAR_000557 rs78340951
7 ALDOB p.Ala338Val VAR_000558 rs77718928
8 ALDOB p.Ile74Thr VAR_020822 rs781023784
9 ALDOB p.Pro185Arg VAR_020824
10 ALDOB p.Val222Phe VAR_020826 rs155470244
11 ALDOB p.Leu229Pro VAR_020827 rs155470243
12 ALDOB p.Arg304Gln VAR_020828 rs145078268
13 ALDOB p.Cys178Arg VAR_058211
14 ALDOB p.Leu284Pro VAR_058212
15 ALDOB p.Arg46Trp VAR_075348 rs41281039
16 ALDOB p.Tyr343His VAR_075349 rs369586696

Expression for Fructose Intolerance, Hereditary

Search GEO for disease gene expression data for Fructose Intolerance, Hereditary.

Pathways for Fructose Intolerance, Hereditary

Pathways related to Fructose Intolerance, Hereditary according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 SLC2A5 KHK B4GALT1 ALDOB
2
Show member pathways
12.39 SLC35C1 MOGS MAN1B1 DOLPP1 B4GALT1 ALG2
3
Show member pathways
11.85 SLC35C1 DOLPP1 ALG2 ALG14
4
Show member pathways
11.1 MOGS MAN1B1 DOLPP1 B4GALT1 ALG2 ALG14
5
Show member pathways
11.08 KHK ALDOB
6
Show member pathways
10.72 KHK ALDOB
7 9.63 SLC2A5 KHK

GO Terms for Fructose Intolerance, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.43 MOGS MAN1B1 DOLPP1 ANO5 ALG2 ALG14
2 integral component of membrane GO:0016021 9.4 TAS2R20 SLC35C1 SLC35A3 SLC2A5 OR1E2 MOGS

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.56 MAN1B1 DOLPP1 B4GALT1 ALG2
2 oligosaccharide metabolic process GO:0009311 9.46 MOGS MAN1B1
3 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.43 ALG2 ALG14
4 fructose metabolic process GO:0006000 9.4 KHK ALDOB
5 response to fructose GO:0009750 9.37 SLC2A5 KHK
6 protein N-linked glycosylation GO:0006487 9.33 MOGS DOLPP1 B4GALT1
7 fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate GO:0061624 9.32 KHK ALDOB
8 carbohydrate transport GO:0008643 9.13 SLC35C1 SLC35A3 SLC2A5
9 carbohydrate metabolic process GO:0005975 9.02 SLC2A5 MOGS MAN1B1 KHK B4GALT1

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

# Name GO ID Score Top Affiliating Genes
1 fructose binding GO:0070061 8.62 SLC2A5 ALDOB

Sources for Fructose Intolerance, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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