FRUCT
MCID: FRC005
MIFTS: 39

Fructosuria, Essential (FRUCT)

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

Aliases & Classifications for Fructosuria, Essential

MalaCards integrated aliases for Fructosuria, Essential:

Name: Fructosuria, Essential 56 29 6 39
Ketohexokinase Deficiency 56 12 52 58
Essential Fructosuria 12 52 58 15
Fructosuria 56 74 73 43
Hepatic Fructokinase Deficiency 56 12 52
Fructokinase Deficiency 12 52 58
Essential Benign Fructosuria 52
Deficiency of Fructokinase 71
Fruct 73

Characteristics:

Orphanet epidemiological data:

58
essential fructosuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
benign, asymptomatic defect


HPO:

31
fructosuria, essential:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111680
OMIM 56 229800
MeSH 43 C538068
SNOMED-CT 67 124300009
ICD10 32 E74.11
MESH via Orphanet 44 C538068
ICD10 via Orphanet 33 E74.1
UMLS via Orphanet 72 C0268160
Orphanet 58 ORPHA2056
MedGen 41 C0268160
SNOMED-CT via HPO 68 258211005
UMLS 71 C0268160

Summaries for Fructosuria, Essential

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2056 Definition Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. Visit the Orphanet disease page for more resources.

MalaCards based summary : Fructosuria, Essential, also known as ketohexokinase deficiency, is related to fructose intolerance, hereditary and pentosuria. An important gene associated with Fructosuria, Essential is KHK (Ketohexokinase), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include liver, and related phenotypes are impairment of fructose metabolism and Decreased human cytomegalovirus (HCMV) strain AD169 replication

Disease Ontology : 12 A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has material basis in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.

OMIM : 56 Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). (229800)

UniProtKB/Swiss-Prot : 73 Fructosuria: Benign defect of intermediary metabolism.

Wikipedia : 74 Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign... more...

Related Diseases for Fructosuria, Essential

Diseases related to Fructosuria, Essential via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 fructose intolerance, hereditary 30.3 SLC2A5 KHK
2 pentosuria 10.1
3 fatty liver disease, nonalcoholic 1 10.1
4 cholecystitis 10.1
5 hepatitis 10.1
6 glycogen storage disease 10.1
7 pulmonary tuberculosis 10.1
8 carbohydrate metabolic disorder 10.1
9 lipid metabolism disorder 10.1
10 pyoderma 10.1
11 liver cirrhosis 10.1
12 connective tissue disease 10.1
13 inherited metabolic disorder 10.1
14 hypoglycemia 10.1

Graphical network of the top 20 diseases related to Fructosuria, Essential:



Diseases related to Fructosuria, Essential

Symptoms & Phenotypes for Fructosuria, Essential

Human phenotypes related to Fructosuria, Essential:

31
# Description HPO Frequency HPO Source Accession
1 impairment of fructose metabolism 31 HP:0011033

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
fructosuria

Clinical features from OMIM:

229800

GenomeRNAi Phenotypes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.62 HK1 KHK

Drugs & Therapeutics for Fructosuria, Essential

Search Clinical Trials , NIH Clinical Center for Fructosuria, Essential

Cochrane evidence based reviews: fructosuria

Genetic Tests for Fructosuria, Essential

Genetic tests related to Fructosuria, Essential:

# Genetic test Affiliating Genes
1 Fructosuria, Essential 29 KHK

Anatomical Context for Fructosuria, Essential

MalaCards organs/tissues related to Fructosuria, Essential:

40
Liver

Publications for Fructosuria, Essential

Articles related to Fructosuria, Essential:

# Title Authors PMID Year
1
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). 56 6
7833921 1994
2
Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. 56
7816517 1994
3
The diagnosis of hereditary fructose intolerance. 56
6268573 1981
4
NONALIMENTARY FRUCTOSURIA. 56
14063525 1963
5
Essential benign fructosuria. 56
13759156 1961
6
Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. 61
12941785 2003

Variations for Fructosuria, Essential

ClinVar genetic disease variations for Fructosuria, Essential:

6 (show top 50) (show all 80) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KHK NM_006488.3(KHK):c.118G>A (p.Gly40Arg)SNV Affects 12031 rs104893643 2:27315225-27315225 2:27092357-27092357
2 KHK NM_006488.3(KHK):c.127G>A (p.Ala43Thr)SNV Affects 12032 rs104893644 2:27315234-27315234 2:27092366-27092366
3 KHK NM_006488.3(KHK):c.790G>A (p.Val264Ile)SNV Conflicting interpretations of pathogenicity 335497 rs114353144 2:27322424-27322424 2:27099556-27099556
4 KHK NM_006488.3(KHK):c.818G>A (p.Ser273Asn)SNV Uncertain significance 335498 rs575951862 2:27322539-27322539 2:27099671-27099671
5 KHK NM_006488.3(KHK):c.*49C>TSNV Uncertain significance 335503 rs776688675 2:27322667-27322667 2:27099799-27099799
6 KHK NM_006488.3(KHK):c.-379T>ASNV Uncertain significance 335476 rs886055883 2:27309749-27309749 2:27086881-27086881
7 KHK NM_006488.3(KHK):c.210-245C>GSNV Uncertain significance 335487 rs202153228 2:27317423-27317423 2:27094555-27094555
8 KHK NM_006488.3(KHK):c.210-211C>TSNV Uncertain significance 335488 rs141417422 2:27317457-27317457 2:27094589-27094589
9 KHK NM_006488.3(KHK):c.463G>A (p.Ala155Thr)SNV Uncertain significance 335489 rs776211460 2:27320416-27320416 2:27097548-27097548
10 KHK NM_006488.3(KHK):c.680_682AGG[1] (p.Glu228del)short repeat Uncertain significance 335496 rs745546639 2:27322313-27322315 2:27099445-27099447
11 KHK NM_006488.3(KHK):c.820G>A (p.Val274Met)SNV Uncertain significance 335499 rs138164728 2:27322541-27322541 2:27099673-27099673
12 KHK NM_006488.3(KHK):c.210-334C>TSNV Uncertain significance 335484 rs368871098 2:27317334-27317334 2:27094466-27094466
13 KHK NM_006488.3(KHK):c.*200A>GSNV Uncertain significance 335508 rs751205514 2:27322818-27322818 2:27099950-27099950
14 KHK NM_006488.3(KHK):c.*326G>ASNV Uncertain significance 335509 rs148558475 2:27322944-27322944 2:27100076-27100076
15 KHK NM_006488.3(KHK):c.*198A>CSNV Uncertain significance 335507 rs886055893 2:27322816-27322816 2:27099948-27099948
16 KHK NM_006488.3(KHK):c.*469G>ASNV Uncertain significance 335510 rs187387157 2:27323087-27323087 2:27100219-27100219
17 KHK NM_006488.3(KHK):c.*810A>CSNV Uncertain significance 335518 rs543665606 2:27323428-27323428 2:27100560-27100560
18 KHK NM_006488.3(KHK):c.*791G>ASNV Uncertain significance 335516 rs886055894 2:27323409-27323409 2:27100541-27100541
19 KHK NM_006488.3(KHK):c.210-283C>TSNV Uncertain significance 335486 rs886055886 2:27317385-27317385 2:27094517-27094517
20 KHK NM_006488.3(KHK):c.-140G>ASNV Uncertain significance 335479 rs886055884 2:27309988-27309988 2:27087120-27087120
21 KHK NM_006488.3(KHK):c.*52C>TSNV Uncertain significance 335504 rs747976594 2:27322670-27322670 2:27099802-27099802
22 KHK NM_006488.3(KHK):c.210-253G>ASNV Uncertain significance 897186 2:27317415-27317415 2:27094547-27094547
23 KHK NM_006488.3(KHK):c.210-200A>GSNV Uncertain significance 897187 2:27317468-27317468 2:27094600-27094600
24 KHK NM_006488.3(KHK):c.210-199T>CSNV Uncertain significance 897188 2:27317469-27317469 2:27094601-27094601
25 KHK NM_006488.3(KHK):c.470A>C (p.Asn157Thr)SNV Uncertain significance 897189 2:27320423-27320423 2:27097555-27097555
26 KHK NM_006488.3(KHK):c.507C>T (p.Ser169=)SNV Uncertain significance 898355 2:27320460-27320460 2:27097592-27097592
27 KHK NM_006488.3(KHK):c.562G>A (p.Val188Met)SNV Uncertain significance 898356 2:27320515-27320515 2:27097647-27097647
28 KHK NM_006488.3(KHK):c.687C>T (p.Gly229=)SNV Uncertain significance 895373 2:27322321-27322321 2:27099453-27099453
29 KHK NM_006488.3(KHK):c.688G>A (p.Ala230Thr)SNV Uncertain significance 895374 2:27322322-27322322 2:27099454-27099454
30 KHK NM_006488.3(KHK):c.698T>G (p.Leu233Arg)SNV Uncertain significance 895375 2:27322332-27322332 2:27099464-27099464
31 KHK NM_006488.3(KHK):c.826G>A (p.Glu276Lys)SNV Uncertain significance 895377 2:27322547-27322547 2:27099679-27099679
32 KHK NM_006488.3(KHK):c.866G>A (p.Cys289Tyr)SNV Uncertain significance 896778 2:27322587-27322587 2:27099719-27099719
33 KHK NM_006488.3(KHK):c.15G>A (p.Gln5=)SNV Uncertain significance 895295 2:27310142-27310142 2:27087274-27087274
34 KHK NM_006488.3(KHK):c.19C>T (p.Leu7=)SNV Uncertain significance 895296 2:27310146-27310146 2:27087278-27087278
35 KHK NM_006488.3(KHK):c.48C>T (p.Val16=)SNV Uncertain significance 896715 2:27310175-27310175 2:27087307-27087307
36 KHK NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)SNV Uncertain significance 896716 2:27315208-27315208 2:27092340-27092340
37 KHK NM_006488.3(KHK):c.*11C>TSNV Uncertain significance 896780 2:27322629-27322629 2:27099761-27099761
38 KHK NM_006488.3(KHK):c.*176G>ASNV Uncertain significance 897260 2:27322794-27322794 2:27099926-27099926
39 KHK NM_006488.3(KHK):c.*214G>ASNV Uncertain significance 897261 2:27322832-27322832 2:27099964-27099964
40 KHK NM_006488.3(KHK):c.*259T>GSNV Uncertain significance 897262 2:27322877-27322877 2:27100009-27100009
41 KHK NM_006488.3(KHK):c.*739G>CSNV Uncertain significance 898436 2:27323357-27323357 2:27100489-27100489
42 KHK NM_006488.3(KHK):c.*896T>GSNV Uncertain significance 895443 2:27323514-27323514 2:27100646-27100646
43 KHK NM_006488.3(KHK):c.*954C>TSNV Uncertain significance 896844 2:27323572-27323572 2:27100704-27100704
44 KHK NM_006488.3(KHK):c.*596C>TSNV Uncertain significance 898434 2:27323214-27323214 2:27100346-27100346
45 KHK NM_006488.3(KHK):c.653+5G>ASNV Uncertain significance 898357 2:27322157-27322157 2:27099289-27099289
46 KHK NM_006488.3(KHK):c.-15T>GSNV Uncertain significance 335481 rs763655731 2:27310113-27310113 2:27087245-27087245
47 KHK NM_006488.3(KHK):c.473C>A (p.Thr158Asn)SNV Uncertain significance 335490 rs773003580 2:27320426-27320426 2:27097558-27097558
48 KHK NM_006488.3(KHK):c.*28T>CSNV Uncertain significance 335502 rs745543858 2:27322646-27322646 2:27099778-27099778
49 KHK NM_006488.3(KHK):c.499C>T (p.Arg167Trp)SNV Uncertain significance 335491 rs886055887 2:27320452-27320452 2:27097584-27097584
50 KHK NM_006488.3(KHK):c.500G>A (p.Arg167Gln)SNV Uncertain significance 335492 rs201707861 2:27320453-27320453 2:27097585-27097585

UniProtKB/Swiss-Prot genetic disease variations for Fructosuria, Essential:

73
# Symbol AA change Variation ID SNP ID
1 KHK p.Gly40Arg VAR_006072 rs104893643
2 KHK p.Ala43Thr VAR_006073 rs104893644

Expression for Fructosuria, Essential

Search GEO for disease gene expression data for Fructosuria, Essential.

Pathways for Fructosuria, Essential

Pathways related to Fructosuria, Essential according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 SORD SLC2A5 PFKL MLXIPL KHK HK1
2
Show member pathways
12.96 SLC2A7 SLC2A5 SLC2A11 HK1 GCKR
3
Show member pathways
12.3 SLC2A5 PFKL HK1
4
Show member pathways
12.18 SORD SLC2A5 PFKL KHK HK1 GCKR
5 12.16 PFKL HK1 GCKR
6 11.71 SLC2A7 SLC2A5 SLC2A11
7
Show member pathways
11.5 SLC2A5 HK1 GCKR
8 11.38 PFKL HK1
9 11.32 PFKL HK1
10 11.17 SLC2A7 SLC2A5 SLC2A11
11 11.15 SLC2A5 HK1
12 11.02 PFKL HK1
13
Show member pathways
10.8 SORD KHK
14
Show member pathways
10.6 SORD PFKL KHK HK1
15 9.63 SLC2A5 KHK

GO Terms for Fructosuria, Essential

Biological processes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.81 PFKL KHK HK1 GCKR
2 response to glucose GO:0009749 9.54 PFKL KHK
3 glycolytic process GO:0006096 9.52 PFKL HK1
4 triglyceride homeostasis GO:0070328 9.49 MLXIPL GCKR
5 canonical glycolysis GO:0061621 9.48 PFKL HK1
6 cellular glucose homeostasis GO:0001678 9.46 HK1 GCKR
7 carbohydrate phosphorylation GO:0046835 9.43 KHK HK1
8 carbohydrate transport GO:0008643 9.43 SLC2A7 SLC2A5 SLC2A11
9 hexose transmembrane transport GO:0008645 9.4 SLC2A7 SLC2A11
10 fructose 6-phosphate metabolic process GO:0006002 9.37 PFKL HK1
11 carbohydrate metabolic process GO:0005975 9.35 SLC2A5 PFKL KHK HK1 GCKR
12 glucose transmembrane transport GO:1904659 9.33 SLC2A7 SLC2A5 SLC2A11
13 fructose transmembrane transport GO:0015755 9.32 SLC2A7 SLC2A5
14 response to fructose GO:0009750 8.8 SLC2A5 KHK GCKR

Molecular functions related to Fructosuria, Essential according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.67 PFKL KHK HK1 GCKR
2 transmembrane transporter activity GO:0022857 9.5 SLC2A7 SLC2A5 SLC2A11
3 fructose-6-phosphate binding GO:0070095 9.26 PFKL GCKR
4 fructose binding GO:0070061 9.16 SLC2A5 PFKL
5 fructose transmembrane transporter activity GO:0005353 8.96 SLC2A7 SLC2A5
6 glucose transmembrane transporter activity GO:0005355 8.8 SLC2A7 SLC2A5 SLC2A11

Sources for Fructosuria, Essential

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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