MCID: DHY002
MIFTS: 48

Dihydropyrimidine Dehydrogenase Deficiency malady

Metabolic, Genetic categories

Summaries for Dihydropyrimidine Dehydrogenase Deficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 oral cancer and squamous cell carcinoma. 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 bone marrow and breast.

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

Description from OMIM:47 274270,222748

Aliases & Classifications for Dihydropyrimidine Dehydrogenase Deficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 9diseasecard, 20GeneTests, 22GTR, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
dihydropyrimidinuria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

dihydropyrimidine dehydrogenase deficiency 8 43 21 47 10 49 61
dihydropyrimidine dehydrogenase 9 20 22
dihydropyrimidinuria 21 47 49
dihydropyrimidinase deficiency 49 61
hereditary thymine-uraciluria 43 21
familial pyrimidinemia 43 49
dpd deficiency 43 21
dihydrouracil dehydrogenase deficiency 8
familial pyrimidinaemia 8
familial pyrimidemia 21
thymine-uracilurea 8


External Ids:

Disease Ontology8 DOID:14218
MeSH35 D054067
NCIt40 C3964
SNOMED-CT57 77365006, 238016000
MESH via Orphanet36 D054067
ICD10 via Orphanet26 E79.8
SNOMED-CT via Orphanet58 77365006
UMLS via Orphanet62 C1959620

Related Diseases for Dihydropyrimidine Dehydrogenase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Dihydropyrimidine Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1oral cancer10.6
2squamous cell carcinoma10.6
3oral squamous cell carcinoma10.5
4adenocarcinoma10.5
5colorectal cancer10.5
6ovarian epithelial cancer10.3
7cicatricial ectropion10.2
8anaplastic large cell lymphoma10.2
9osteogenesis imperfecta10.2
10dihydropyrimidinase deficiency10.2
11c2 deficiency10.2
12bone marrow cancer10.2
13herpes zoster10.2
14adenoid cystic carcinoma10.2
15thymoma10.2
16biliary tract cancer10.2
17soft tissue sarcoma10.2
18hypotonia10.2
195-fluorouracil toxicity10.0DPYD
20epilepsy syndrome10.0ADSL, DPYD
21brain disease10.0ADSL, DPYD
22metabolic syndrome x10.0DPYD, ADSL

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



Diseases related to dihydropyrimidine dehydrogenase deficiency

Clinical Features for Dihydropyrimidine Dehydrogenase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

274270,222748

Clinical synopsis from OMIM:

222748

Drugs & Therapeutics for Dihydropyrimidine Dehydrogenase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

33
Bone marrow, Breast

Animal Models for Dihydropyrimidine Dehydrogenase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dihydropyrimidine Dehydrogenase Deficiency

Sources:
51PubMed
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Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50)    (show all 83)
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
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. (24014927)
2013
3
Reversible leukoencephalopathy with stroke-like presentation in a patient with 5-dihydropyrimidine dehydrogenase deficiency treated with continuous 5-fluorouracil infusion. (22410472)
2012
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
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. (21420945)
2011
7
Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. (20146975)
2010
8
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). (19296131)
2009
9
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
10
A case of dihydropyrimidine dehydrogenase (DPD) deficiency with severe side effects from UFT/Uzel administration]. (18281779)
2008
11
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. (19081848)
2008
12
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. (18846242)
2007
13
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. (17064846)
2007
14
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. (17000684)
2006
15
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. (17241513)
2006
16
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? (16512996)
2006
17
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. (16537192)
2006
18
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. (16778115)
2006
19
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. (16361556)
2005
20
Screening for dihydropyrimidine dehydrogenase deficiency. (16033817)
2005
21
Dihydropyrimidine dehydrogenase deficiency presenting at birth. (16151913)
2005
22
Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. (15083629)
2004
23
Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. (16163233)
2004
24
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation. (12971429)
2003
25
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria. (12668826)
2003
26
Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. (12542909)
2003
27
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. (12829003)
2003
28
A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency. (12069415)
2002
29
The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil. (12140902)
2002
30
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
31
Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. (11895907)
2002
32
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
33
Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency. (10620566)
2000
34
Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation. (10234617)
1999
35
Prolonged severe 5-fluorouracil-associated neurotoxicity in a patient with dihydropyrimidine dehydrogenase deficiency. (10099659)
1999
36
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. (10071185)
1999
37
Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli. (9598088)
1998
38
Dihydropyrimidine dehydrogenase deficiency: a potential etiology for 5-fluorouracil-induced neurotoxicity. (9250572)
1997
39
Dihydropyrimidine dehydrogenase deficiency: a pharmacogenetic defect causing severe adverse reactions to 5-fluorouracil-based chemotherapy. (9007910)
1997
40
Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency. (9323575)
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
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn. (1781388)
1991
45
The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency. (2029924)
1991
46
A new case of dihydropyrimidine dehydrogenase deficiency. (2109146)
1990
47
A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil. (2624179)
1989
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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Dihydropyrimidine Dehydrogenase Deficiency:

63
id Symbol AA change Variation 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

Sources:
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

Sources:
38NCBI BioSystems Database, 50PharmGKB, 54Reactome, 30KEGG, 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

Sources:
45Novoseek, 24HMDB
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Compounds related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
15,6-dihydrothymine459.9DPYS, DPYD
2dihydrouracil45 2410.8DPYS, DPYD
3thymine45 2410.7DPYS, DPYD
4adenylosuccinate459.7DPYD, ADSL
5prpp459.7ADSL, DPYD
6xanthine45 2410.6DPYD, ADSL
7nucleoside459.5ADSL, DPYD
8pyrimidine45 2410.5DPYD, DPYS
9molybdenum45 2410.4DPYD, ADSL, DPYS
10purine nucleoside459.3DPYS, DPYD, ADSL
11purine45 2410.3ADSL, DPYS, DPYD
12ornithine45 2410.2ADSL, DPYD
13thymidine45 2410.1DPYD, DPYS, ADSL

GO Terms for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydropyrimidine Dehydrogenase Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet