MCID: DHY002
MIFTS: 60

Dihydropyrimidine Dehydrogenase Deficiency malady

Metabolic diseases, Genetic diseases categories

Summaries for Dihydropyrimidine Dehydrogenase Deficiency

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Dihydropyrimidine dehydrogenase (dpd) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. dpd deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior.  all individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. dpd deficiency is caused by mutations in the dpyd gene and is inherited in an autosomal recessive manner. last updated: 8/20/2012

MalaCards: Dihydropyrimidine Dehydrogenase Deficiency, also known as dihydropyrimidine dehydrogenase, is related to lung cancer and pancreatitis. An important gene associated with Dihydropyrimidine Dehydrogenase Deficiency is DPYD (dihydropyrimidine dehydrogenase), and among its related pathways are Fluoropyrimidine Activity and Purine metabolism. The compounds 5,6-dihydrothymine and dihydrouracil have been mentioned in the context of this disorder. Affiliated tissues include testes, bone marrow and bone.

Disease Ontology:8 A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.

Genetics Home Reference:21 Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.

Wikipedia:63 Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is an autosomal recessivemetabolic disorder... more...

Description from OMIM:46 274270,222748

Aliases & Classifications for Dihydropyrimidine Dehydrogenase Deficiency

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
dihydropyrimidinuria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

dihydropyrimidine dehydrogenase deficiency 8 42 21 46 10 48 60
dihydropyrimidine dehydrogenase 9 20 22
dihydropyrimidinuria 21 46 48
dihydropyrimidinase deficiency 48 60
hereditary thymine-uraciluria 42 21
familial pyrimidinemia 42 48
dpd deficiency 42 21
dihydrouracil dehydrogenase deficiency 8
familial pyrimidinaemia 8
familial pyrimidemia 21
thymine-uracilurea 8


External Ids:

Disease Ontology8 DOID:14218
MeSH34 D054067
NCIt39 C3964
SNOMED-CT56 77365006, 238016000
MESH via Orphanet35 D054067
ICD10 via Orphanet26 E79.8
SNOMED-CT via Orphanet57 77365006, 238014002
UMLS via Orphanet61 C1959620

Related Diseases for Dihydropyrimidine Dehydrogenase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dihydropyrimidine Dehydrogenase Deficiency:



Diseases related to dihydropyrimidine dehydrogenase deficiency

Clinical Features for Dihydropyrimidine Dehydrogenase Deficiency

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46OMIM
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Clinical features from OMIM:

274270,222748

Clinical synopsis from OMIM:

222748

Drugs & Therapeutics for Dihydropyrimidine Dehydrogenase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dihydropyrimidine Dehydrogenase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Dihydropyrimidine Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropyrimidine Dehydrogenase Deficiency20 22 DPYD

Anatomical Context for Dihydropyrimidine Dehydrogenase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

32
Testes, Bone marrow, Bone, Liver, Breast

Animal Models for Dihydropyrimidine Dehydrogenase Deficiency or affiliated genes

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Publications for Dihydropyrimidine Dehydrogenase Deficiency

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50PubMed
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Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. (23856855)
2013
2
Tegafur-uracil is a safe alternative for the treatment of colorectal cancer in patients with partial dihydropyrimidine dehydrogenase deficiency: a proof of principle. (22754590)
2012
3
High-resolution melting analysis of the common c.1905+1G&gt;A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. (23335937)
2012
4
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. (21420945)
2011
5
A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. (21077799)
2011
6
Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]. (20087047)
2010
7
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. (20544545)
2010
8
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. (19081848)
2008
9
Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. (17582309)
2007
10
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. (17064846)
2007
11
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. (17065071)
2006
12
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? (17065072)
2006
13
Hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine. (17026792)
2006
14
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? (16512996)
2006
15
Unpredicted severe toxicity after 5-fluorouracil treatment due to dihydropyrimidine dehydrogenase deficiency. (16646564)
2006
16
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. (16778115)
2006
17
A case of recurrent gastric cancer with dihydropyrimidine dehydrogenase (DPD) deficiency]. (16835493)
2006
18
Dihydropyrimidine dehydrogenase deficiency in an Indian population. (16421754)
2006
19
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. (16361556)
2005
20
Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test. (15102667)
2004
21
Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. (15377401)
2004
22
Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature. (15700854)
2004
23
Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. (15083629)
2004
24
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? (14705962)
2004
25
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. (15303009)
2004
26
Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. (16163233)
2004
27
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation. (12971429)
2003
28
Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g&gt;a mutation. (12209976)
2002
29
Molecular toxicological mechanism of the lethal interactions of the new antiviral drug, sorivudine, with 5-fluorouracil prodrugs and genetic deficiency of dihydropyrimidine dehydrogenase]. (12187768)
2002
30
Dihydropyrimidine dehydrogenase enzyme deficiency: clinical and genetic assessment of prevalence in Turkish cancer patients. (12025228)
2002
31
5-FU multifocal inflammatory leukoencephalopathy and dihydropyrimidine dehydrogenase deficiency. (11148247)
2001
32
Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity. (11783494)
2000
33
Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency. (10764168)
2000
34
Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients. (10027339)
1999
35
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. (10071185)
1999
36
Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation. (9686373)
1998
37
Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli. (9598088)
1998
38
Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli. (9686374)
1998
39
Dihydropyrimidine dehydrogenase deficiency: a potential etiology for 5-fluorouracil-induced neurotoxicity. (9250572)
1997
40
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
41
Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency. (9323575)
1997
42
Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. (9439663)
1997
43
Severe 5-fluorouracil toxicity possibly secondary to dihydropyrimidine dehydrogenase deficiency in a breast cancer patient with osteogenesis imperfecta. (8664058)
1996
44
Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. (8221682)
1993
45
Severe fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. (8411234)
1993
46
Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome. (1648430)
1991
47
A new case of dihydropyrimidine dehydrogenase deficiency. (2109146)
1990
48
A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil. (2624179)
1989
49
Dihydropyrimidine dehydrogenase deficiency. Neurological aspects. (3572451)
1987
50
Dihydropyrimidine dehydrogenase deficiency--a further case. (3930855)
1985

Genetic Variations for Dihydropyrimidine Dehydrogenase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Dihydropyrimidine Dehydrogenase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1DPYDp.Cys29ArgVAR_005173rs1801265
2DPYDp.Arg235TrpVAR_005174rs1801266
3DPYDp.Arg886HisVAR_005177rs1801267
4DPYSp.Thr68ArgVAR_002267
5DPYSp.Gln334ArgVAR_002268rs121964923
6DPYSp.Trp360ArgVAR_002269rs121964924
7DPYSp.Gly435ArgVAR_002270
8DPYSp.Arg490ThrVAR_002271

Expression for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

Search GEO for disease gene expression data for Dihydropyrimidine Dehydrogenase Deficiency.

Pathways for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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37NCBI BioSystems Database, 49PharmGKB, 53Reactome, 29KEGG, 12EMD Millipore
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Pathways related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6DPYD, DPYS
2
Hide members
9.6DPYD, DPYS
3
Hide members
9.6DPYD, DPYS
49.6DPYD, DPYS
5
Hide members
9.6DPYS, DPYD
69.6DPYD, DPYS
7
Hide members
9.6DPYD, DPYS
8
Hide members
9.1ADSL, DPYD, DPYS

Compounds for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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44Novoseek, 24HMDB
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Compounds related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
15,6-dihydrothymine449.9DPYD, DPYS
2dihydrouracil44 2410.8DPYD, DPYS
3thymine44 2410.7DPYD, DPYS
4adenylosuccinate449.7ADSL, DPYD
5prpp449.7DPYD, ADSL
6xanthine44 2410.6ADSL, DPYD
7nucleoside449.5ADSL, DPYD
8pyrimidine44 2410.5DPYD, DPYS
9molybdenum44 2410.4ADSL, DPYD, DPYS
10purine nucleoside449.3ADSL, DPYD, DPYS
11purine44 2410.3DPYS, DPYD, ADSL
12ornithine44 2410.2ADSL, DPYD
13thymidine44 2410.1DPYS, DPYD, ADSL

GO Terms for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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16Gene Ontology
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Biological processes related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thymine catabolic processGO:0062109.7DPYD, DPYS
2uracil catabolic processGO:0062129.7DPYD, DPYS
3pyrimidine nucleobase metabolic processGO:0062069.6DPYD, DPYS
4pyrimidine nucleobase catabolic processGO:0062089.5DPYD, DPYS
5pyrimidine nucleoside catabolic processGO:0461359.3DPYD, DPYS
6nucleobase-containing small molecule metabolic processGO:0550869.1DPYS, DPYD, ADSL

Products for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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  • Antibodies
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  • Lysates
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Sources for Dihydropyrimidine Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet