MCID: 5FL001
MIFTS: 41

5-Fluorouracil Toxicity malady

Genetic diseases (common) category
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Summaries for 5-Fluorouracil Toxicity

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47OMIM, 33MalaCards
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MalaCards: 5-Fluorouracil Toxicity, also known as 5-@fluorouracil toxicity, is related to dihydropyrimidine dehydrogenase deficiency and colorectal cancer. An important gene associated with 5-Fluorouracil Toxicity is DPYD (dihydropyrimidine dehydrogenase), and among its related pathways are Beta alanine metabolism and Pantothenate and CoA biosynthesis. The compounds Dihydrothymine and 5,6-dihydrothymine have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and bone marrow.

Description from OMIM:47 274270

Aliases & Classifications for 5-Fluorouracil Toxicity

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47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

5-fluorouracil toxicity 47
5-@fluorouracil toxicity 62


Related Diseases for 5-Fluorouracil Toxicity

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17GeneCards, 18GeneDecks
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Diseases related to 5-Fluorouracil Toxicity via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1dihydropyrimidine dehydrogenase deficiency30.7DPYS, DPYD
2colorectal cancer30.7DPYD, ABCB1, TYMS
3breast cancer30.3ABCB1, DPYD, TYMS
4adenocarcinoma30.0ABCB1, TYMS, UGT1A1, DPYD
5osteogenesis imperfecta10.2
6adult acute lymphocytic leukemia10.1TYMS
7cicatricial ectropion10.1
8ectropion10.1
9lactic acidosis10.1
10dihydropyrimidinase deficiency10.1
11gilbert syndrome10.1UGT1A1, DPYD
12biliary tract neoplasm10.0DPYD, TYMS
13gallbladder cancer10.0TYMS, DPYD
14kidney rhabdoid cancer10.0ABCB1, DPYD
15rectal neoplasm10.0DPYD, TYMS
16stomatitis10.0TYMS, DPYD
17leukemia, acute nonlymphocytic10.0ABCB1, TYMS
18factor vii deficiency10.0TYMS, UGT1A1
19gastric adenocarcinoma10.0TYMS, DPYD
20pancreatic cancer10.0DPYD, TYMS
21folic acid deficiency anemia10.0TYMS, MTHFR
22leukopenia10.0TYMS, UGT1A1, DPYD
23diarrhea10.0TYMS, DPYD, UGT1A1
24colon adenocarcinoma10.0TYMS, ABCB1
25neutropenia10.0TYMS, UGT1A1, DPYD
26neural tube defects10.0MTHFR, TYMS
27cervical cancer10.0DPYD, TYMS, ABCB1
28hyperhomocysteinemia10.0MTHFR, TYMS
29bladder carcinoma10.0ABCB1, TYMS, DPYD
30stomach cancer10.0ABCB1, DPYD, TYMS
31precursor t-cell acute lymphoblastic leukemia10.0TYMS, ABCB1
32colon cancer10.0TYMS, DPYD, ABCB1
33hepatocellular carcinoma10.0ABCB1, UGT1A1, DPYD
34ovarian cancer10.0TYMS, ABCB1, DPYD
35non-small cell lung carcinoma10.0ABCB1, TYMS
36tongue squamous cell carcinoma10.0DPYD, TYMS, ABCB1
37acute lymphoblastic leukemia, childhood9.9ABCB1, TYMS, MTHFR
38lung cancer9.9TYMS, DPYD, ABCB1, UGT1A1
39acute lymphocytic leukemia9.9UGT1A1, ABCB1, TYMS, MTHFR

Graphical network of the top 20 diseases related to 5-Fluorouracil Toxicity:



Diseases related to 5-fluorouracil toxicity

Symptoms for 5-Fluorouracil Toxicity

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47OMIM
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Clinical features from OMIM:

274270

Drugs & Therapeutics for 5-Fluorouracil Toxicity

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for 5-Fluorouracil Toxicity

Search NIH Clinical Center for 5-Fluorouracil Toxicity

Genetic Tests for 5-Fluorouracil Toxicity

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Anatomical Context for 5-Fluorouracil Toxicity

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33MalaCards
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MalaCards organs/tissues related to 5-Fluorouracil Toxicity:

33
Breast, Testes, Bone marrow, Bone, Brain, Small intestine, Colon, Liver

Animal Models for 5-Fluorouracil Toxicity or affiliated genes

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Publications for 5-Fluorouracil Toxicity

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52PubMed
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Articles related to 5-Fluorouracil Toxicity:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
(13)C-uracil breath test to predict 5-fluorouracil toxicity in gastrointestinal cancer patients. (24101147)
2013
2
Evaluation of clinical value of single nucleotide polymorphisms of dihydropyrimidine dehydrogenase gene to predict 5-fluorouracil toxicity in 60 colorectal cancer patients in China. (23781135)
2013
3
Accidental and experimentally induced 5-fluorouracil toxicity in dogs. (22817133)
2012
4
Predicting 5-fluorouracil toxicity in colorectal cancer patients from peripheral blood cell telomere length: a multivariate analysis. (22990653)
2012
5
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. (23335937)
2012
6
Involvement of target gene polymorphisms in 5-Fluorouracil toxicity: a case report. (22343422)
2012
7
Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. (21919607)
2011
8
Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer. (20177420)
2011
9
Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene. (19822137)
2010
10
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. (20803296)
2010
11
Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. (19530960)
2009
12
RNA-based 5-fluorouracil toxicity requires the pseudouridylation activity of Cbf5p. (18493057)
2008
13
5-Fluorouracil toxicity-attributable IVS14 + 1G > A mutation of the dihydropyrimidine dehydrogenase gene in Polish colorectal cancer patients. (18443386)
2008
14
Linking uracil base excision repair and 5-fluorouracil toxicity in yeast. (16407331)
2006
15
A pharmacokinetic-based test to prevent severe 5-fluorouracil toxicity. (17015056)
2006
16
Pharmacokinetic and demographic markers of 5-fluorouracil toxicity in 181 patients on adjuvant therapy for colorectal cancer. (16968871)
2006
17
Pyrimidine degradation defects and severe 5-fluorouracil toxicity. (15571261)
2004
18
Growth hormone protects the intestines but not the tumour from 5-fluorouracil toxicity in the short term in the rat. (15095856)
2004
19
5-fluorouracil toxicity with severe bone marrow suppression in a dog. (15303385)
2004
20
Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients. (15017333)
2004
21
Dihydopyrimidine dehydrogenase: a critical molecular biomarker for 5-Fluorouracil toxicity. (15377397)
2004
22
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. (14555507)
2003
23
Denaturing high performance liquid chromatography analysis of the DPYD gene in patients with lethal 5-fluorouracil toxicity. (12912951)
2003
24
Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene. (12562666)
2003
25
Severe 5-fluorouracil toxicity associated with a marked alteration of pharmacokinetics of 5-fluorouracil and its catabolite 5-fluoro-5,6-dihydrouracil: a case report. (12602342)
2002
26
Simple liquid chromatographic method for the determination of uracil and dihydrouracil plasma levels: a potential pretreatment predictor of 5-fluorouracil toxicity. (12076692)
2002
27
Assessment of the antitumour activity of targeted immunospecific albumin microspheres loaded with cisplatin and 5-fluorouracil: toxicity against a rodent ovarian carcinoma in vitro. (11237408)
2001
28
Rapid detection of a common dihydropyrimidine dehydrogenase mutation associated with 5-fluorouracil toxicity and congenital thymine uraciluria using fluorogenic hybridization probes. (11311218)
2001
29
Common DPYD mutation associated with 5-fluorouracil toxicity detected by PCR-mediated site-directed mutagenesis. (10657402)
2000
30
5-fluorouracil toxicity: old or new? (10506691)
1999
31
Overwhelming 5-fluorouracil toxicity in patients whose diabetes is poorly controlled. (9856664)
1998
32
Encephalopathy, lactic acidosis, hyperammonaemia and 5-fluorouracil toxicity. (9635854)
1998
33
Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity. (9865912)
1998
34
Semi-automated radioassay for determination of dihydropyrimidine dehydrogenase (DPD) activity. Screening cancer patients for DPD deficiency, a condition associated with 5-fluorouracil toxicity. (9323539)
1997
35
Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. (8698850)
1996
36
Severe 5-fluorouracil toxicity possibly secondary to dihydropyrimidine dehydrogenase deficiency in a breast cancer patient with osteogenesis imperfecta. (8664058)
1996
37
Age and sex are independent predictors of 5-fluorouracil toxicity. Analysis of a large scale phase III trial. (7804963)
1995
38
Two new cases of hyperpyrimidinuria associated with excessive 5-fluorouracil toxicity. (7826915)
1994
39
Severe 5-fluorouracil toxicity in a patient with decreased dihydropyrimidine dehydrogenase activity. (8462026)
1993
40
Protein intake and 5-fluorouracil toxicity in tumor-bearing animals. (2214738)
1990
41
Leucovorin as a clinical potentiator of 5-fluorouracil toxicity and anticancer efficacy. (3265179)
1988
42
Modulation of 5-fluorouracil toxicity by uridine, deoxyuridine, orotate and dipyridamole in normal tissues of rats with liver adenocarcinoma. (2485133)
1987
43
5-Fluorouracil toxicity to the ocular surface epithelium. (3980172)
1985
44
Phase I and pharmacokinetic studies of high-dose uridine intended for rescue from 5-fluorouracil toxicity. (6498850)
1984
45
The effect of sulfhydryl compounds on 5-fluorouracil toxicity and distribution. (6418114)
1983
46
Circadian rhythm and 5-fluorouracil toxicity in C3H mice. (7167477)
1982
47
Modulation of 5-fluorouracil toxicity by allopurinol in man. (7023652)
1981
48
Effects of 'elemental' diets on absorptive and enzymic activities and on 5-fluorouracil toxicity in rat small intestine. (486233)
1979
49
Protein-calorie malnutrition and 5-fluorouracil toxicity. (120013)
1979
50
Investigation of the effects of vitamin A on 5-fluorouracil toxicity in the rat. (1198043)
1975

Variations for 5-Fluorouracil Toxicity

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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for 5-Fluorouracil Toxicity:

64
id Symbol AA change Variation ID SNP ID
1DPYDp.Cys29ArgVAR_005173rs1801265
2DPYDp.Arg235TrpVAR_005174rs1801266
3DPYDp.Arg886HisVAR_005177rs1801267

Expression for genes affiliated with 5-Fluorouracil Toxicity

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 5-Fluorouracil Toxicity

Search GEO for disease gene expression data for 5-Fluorouracil Toxicity.

Pathways for genes affiliated with 5-Fluorouracil Toxicity

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50PathCards, 60Thomson Reuters, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 51PharmGKB
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Pathways related to 5-Fluorouracil Toxicity according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6DPYS, DPYD
29.6DPYD, DPYS
3
Show member pathways
phenylethylamine degradation I38
9.6DPYD, DPYS
4
Show member pathways
thymine degradation38
pyrimidine deoxyribonucleosides degradation38
uracil degradation I (reductive)38
pyrimidine ribonucleosides degradation38
9.6DPYD, DPYS
5
Show member pathways
9.4ABCB1, UGT1A1
69.4UGT1A1, ABCB1
7
Show member pathways
9.4UGT1A1, ABCB1
8
Show member pathways
9.4UGT1A1, ABCB1
99.4UGT1A1, ABCB1
10
Show member pathways
Codeine and morphine metabolism38
9.4ABCB1, UGT1A1
11
Show member pathways
9.1DPYS, DPYD, UGT1A1
12
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.0MTHFR, TYMS
13
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
9.0TYMS, DPYD, DPYS
14
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
9.0DPYS, DPYD, TYMS
15
Show member pathways
8.2DPYS, DPYD, MTHFR, TYMS
16
Show member pathways
7.1ABCB1, UGT1A1, TYMS, MTHFR, DPYD, DPYS

Compounds for genes affiliated with 5-Fluorouracil Toxicity

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Sources:
24HMDB, 45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR
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Compounds related to 5-Fluorouracil Toxicity according to GeneCards/GeneDecks:

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1Dihydrothymine2410.0DPYD, DPYS
25,6-dihydrothymine4510.0DPYS, DPYD
3dihydrouracil45 2410.9DPYD, DPYS
4tegafur-uracil459.8DPYD, TYMS
5eniluracil459.8TYMS, DPYD
6pyrimidine analogues519.8TYMS, DPYD
72-deoxyuridine-5-monophosphate459.8DPYD, TYMS
8indacaterol51 1110.8UGT1A1, ABCB1
95-fluoro-2-deoxyuridine-5-monophosphate459.8DPYD, TYMS
10bvdu459.8TYMS, DPYD
11tegafur45 5110.8TYMS, DPYD
12idurd459.7TYMS, DPYD
13atazanavir45 51 1111.6UGT1A1, ABCB1
14trimetrexate45 1110.6TYMS, ABCB1
15axitinib61 45 1111.5ABCB1, UGT1A1
165-deoxy-5-fluorouridine459.4TYMS, DPYD
17ch2h4folate459.4MTHFR, TYMS
18p-007459.4DPYD, MTHFR
19pyrimidine45 2410.3DPYS, DPYD, TYMS
20nilotinib51 1110.3ABCB1, UGT1A1
215,10-Methylene-THF249.3MTHFR, TYMS
22b vitamins459.3MTHFR, TYMS
23pemetrexed51 1110.3MTHFR, TYMS
24mitomycin c459.2DPYD, TYMS, ABCB1
25erlotinib45 51 1111.2TYMS, UGT1A1, ABCB1
26thymine45 2410.2DPYD, DPYS, MTHFR
27camptothecin45 61 1111.1DPYD, ABCB1, TYMS
286 mercaptopurine459.1UGT1A1, DPYD, MTHFR
29docetaxel45 51 61 1112.1TYMS, DPYD, ABCB1
30phenytoin45 51 29 1112.0UGT1A1, MTHFR, ABCB1
31quercetin45 61 24 1111.9TYMS, UGT1A1, ABCB1
32carboplatin45 51 1110.9ABCB1, MTHFR, TYMS
33sn 3845 619.8DPYD, ABCB1, UGT1A1, TYMS
34etoposide45 51 61 1111.8ABCB1, DPYD, TYMS, UGT1A1
35folate458.6TYMS, MTHFR, DPYD
36purine45 249.6TYMS, DPYS, DPYD, MTHFR
37capecitabine45 51 1110.5ABCB1, DPYD, MTHFR, TYMS
38thiopurine458.5TYMS, MTHFR, DPYD, UGT1A1
39taxane458.5MTHFR, DPYD, TYMS, ABCB1
40fluorouracil51 119.5MTHFR, DPYD, ABCB1, TYMS
41leucovorin45 51 1110.5MTHFR, DPYD, TYMS, UGT1A1
42gemcitabine45 51 1110.5DPYD, ABCB1, MTHFR, TYMS
43methotrexate51 45 1110.5DPYD, MTHFR, TYMS, ABCB1
44cyclophosphamide45 51 1110.4ABCB1, DPYD, MTHFR
45thymidine45 249.1MTHFR, DPYD, UGT1A1, DPYS, TYMS
46oxaliplatin45 51 1110.0UGT1A1, TYMS, MTHFR, DPYD, ABCB1
47irinotecan45 51 1110.0ABCB1, DPYD, MTHFR, UGT1A1, TYMS
48thymidylate458.0ABCB1, DPYD, MTHFR, TYMS, UGT1A1
49cisplatin45 51 61 1111.0MTHFR, UGT1A1, TYMS, DPYD, ABCB1
505fluorouracil457.6ABCB1, DPYD, DPYS, TYMS, UGT1A1, MTHFR

GO Terms for genes affiliated with 5-Fluorouracil Toxicity

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16Gene Ontology
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Cellular components related to 5-Fluorouracil Toxicity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.2DPYS, DPYD, MTHFR, TYMS

Biological processes related to 5-Fluorouracil Toxicity according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1uracil catabolic processGO:0062129.8DPYS, DPYD
2thymine catabolic processGO:0062109.7DPYS, DPYD
3pyrimidine nucleobase catabolic processGO:0062089.6DPYD, DPYS
4pyrimidine nucleoside catabolic processGO:0461359.5DPYS, DPYD
5organ regenerationGO:0311009.3TYMS, UGT1A1
6pyrimidine nucleobase metabolic processGO:0062069.2TYMS, DPYD, DPYS
7nucleobase-containing small molecule metabolic processGO:0550869.1DPYS, DPYD, TYMS
8response to folic acidGO:0515938.7MTHFR, TYMS
9response to drugGO:0424938.1ABCB1, UGT1A1, TYMS, MTHFR
10small molecule metabolic processGO:0442817.3DPYS, DPYD, MTHFR, TYMS, UGT1A1, ABCB1

Molecular functions related to 5-Fluorouracil Toxicity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:0506619.1DPYD, MTHFR
2flavin adenine dinucleotide bindingGO:0506608.9DPYD, MTHFR
3protein homodimerization activityGO:0428038.9DPYD, TYMS, UGT1A1

Products for genes affiliated with 5-Fluorouracil Toxicity

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Sources for 5-Fluorouracil Toxicity

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet