MCID: DHY002
MIFTS: 60

Dihydropyrimidine Dehydrogenase Deficiency malady

Metabolic diseases, Genetic diseases categories

Summaries for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 and liver.

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

About this section
Sources:
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
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Dihydropyrimidine Dehydrogenase Deficiency:



Diseases related to dihydropyrimidine dehydrogenase deficiency

Clinical Features for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

274270,222748

Clinical synopsis from OMIM:

222748

Drugs & Therapeutics for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Dihydropyrimidine Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for Dihydropyrimidine Dehydrogenase Deficiency

Search NIH Clinical Center for Dihydropyrimidine Dehydrogenase Deficiency

Search CenterWatch for Dihydropyrimidine Dehydrogenase Deficiency

Genetic Tests for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Dihydropyrimidine Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropyrimidine Dehydrogenase Deficiency20 22 DPYD

Anatomical Context for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

32
Testes, Bone, Liver, Bone marrow, Breast

Animal Models for Dihydropyrimidine Dehydrogenase Deficiency or affiliated genes

About this section

Publications for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
50PubMed
See all sources

Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Tegafur-uracil (UFT) in lower doses is safe for the treatment of colorectal cancer in patients with partial dihydropyrimidine dehydrogenase deficiency: a proof of principle. (23323151)
2013
2
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. (23856855)
2013
3
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. (24014927)
2013
4
High-resolution melting analysis of the common c.1905+1G&gt;A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. (23335937)
2012
5
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMa88 gangliosidosis. (22353294)
2012
6
Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. (20146975)
2010
7
The dihydrouracil/uracil ratio in plasma, clinical and genetic analysis for screening of dihydropyrimidine dehydrogenase deficiency in colorectal cancer patients treated with 5-fluorouracil. (18619742)
2009
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
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. (18846242)
2007
11
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. (17064846)
2007
12
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? (17065072)
2006
13
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. (17000684)
2006
14
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. (17241513)
2006
15
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? (16512996)
2006
16
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. (16537192)
2006
17
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. (16778115)
2006
18
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. (16361556)
2005
19
Screening for dihydropyrimidine dehydrogenase deficiency. (16033817)
2005
20
Dihydropyrimidine dehydrogenase deficiency presenting at birth. (16151913)
2005
21
Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. (15083629)
2004
22
5FU and oxaliplatin-containing chemotherapy in two dihydropyrimidine dehydrogenase-deficient patients. (15274386)
2004
23
Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. (16163233)
2004
24
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria. (12668826)
2003
25
Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. (12542909)
2003
26
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. (12829003)
2003
27
A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency. (12069415)
2002
28
The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil. (12140902)
2002
29
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
30
Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. (11895907)
2002
31
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. (11156223)
2000
32
Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency. (10620566)
2000
33
Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity. (11783494)
2000
34
Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency. (10764168)
2000
35
Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation. (10234617)
1999
36
Prolonged severe 5-fluorouracil-associated neurotoxicity in a patient with dihydropyrimidine dehydrogenase deficiency. (10099659)
1999
37
Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients. (10027339)
1999
38
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. (10071185)
1999
39
Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity. (10027340)
1999
40
Dihydropyrimidine dehydrogenase deficiency: a pharmacogenetic defect causing severe adverse reactions to 5-fluorouracil-based chemotherapy. (9007910)
1997
41
Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. (8698850)
1996
42
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. (8892022)
1996
43
Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. (7491709)
1995
44
Severe fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. (8411234)
1993
45
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn. (1781388)
1991
46
The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency. (2029924)
1991
47
A new case of dihydropyrimidine dehydrogenase deficiency. (2109146)
1990
48
Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. (3335642)
1988
49
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. (3930854)
1985
50
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. (6488556)
1984

Genetic Variations for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 49PharmGKB, 53Reactome, 29KEGG, 12EMD Millipore
See all sources

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
9.6DPYS, DPYD
3
Hide members
9.6DPYD, DPYS
49.6DPYD, DPYS
5
Hide members
9.6DPYD, DPYS
69.6DPYS, DPYD
7
Hide members
9.6DPYD, DPYS
8
Hide members
9.1DPYS, DPYD, ADSL

Compounds for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards/GeneDecks:

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

GO Terms for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
16Gene Ontology
See all sources

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

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

Products for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydropyrimidine Dehydrogenase Deficiency

About this section
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