MCID: DHY002
MIFTS: 55

Dihydropyrimidine Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases

Aliases & Classifications for Dihydropyrimidine Dehydrogenase Deficiency

MalaCards integrated aliases for Dihydropyrimidine Dehydrogenase Deficiency:

Name: Dihydropyrimidine Dehydrogenase Deficiency 57 12 76 53 25 59 75 37 29 6 44 15 40 73
Dpd Deficiency 57 53 25 75
Hereditary Thymine-Uraciluria 53 25 75
5-Fluorouracil Toxicity 57 59 13
Familial Pyrimidinemia 53 59 75
Dihydropyrimidinuria 25 75 73
Dpyd Deficiency 57 75
Dihydrouracil Dehydrogenase Deficiency 12
Dihydropyrimidine Dehydrogenase 13
Thymine-Uraciluria, Hereditary 57
Pyrimidinemia, Familial 57
Familial Pyrimidinaemia 12
Pyrimidinemia Familial 76
Familial Pyrimidemia 25
Thymine-Uracilurea 12
Dpydd 75

Characteristics:

Orphanet epidemiological data:

59
dihydropyrimidine dehydrogenase deficiency
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset usually in infancy although later onset may occur
some individuals are asymptomatic
heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)


HPO:

32
dihydropyrimidine dehydrogenase deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dihydropyrimidine Dehydrogenase Deficiency

NIH Rare Diseases : 53 Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotidesthymine 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.

MalaCards based summary : Dihydropyrimidine Dehydrogenase Deficiency, also known as dpd deficiency, is related to dihydropyrimidinase deficiency and beta-ureidopropionase deficiency, and has symptoms including lethargy and seizures. An important gene associated with Dihydropyrimidine Dehydrogenase Deficiency is DPYD (Dihydropyrimidine Dehydrogenase), and among its related pathways/superpathways are Pyrimidine metabolism and Drug metabolism - other enzymes. The drugs Fluorouracil and Heparin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and bone marrow, and related phenotypes are microcephaly and microphthalmia

OMIM : 57 Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999). Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004). (274270)

UniProtKB/Swiss-Prot : 75 Dihydropyrimidine dehydrogenase deficiency: A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil.

Genetics Home Reference : 25 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.

Disease Ontology : 12 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.

Wikipedia : 76 Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is an autosomal recessivemetabolic disorder... more...

Related Diseases for Dihydropyrimidine Dehydrogenase Deficiency

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



Diseases related to Dihydropyrimidine Dehydrogenase Deficiency

Symptoms & Phenotypes for Dihydropyrimidine Dehydrogenase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
microphthalmia
coloboma
abnormal ocular movements

Growth Other:
failure to thrive
growth retardation

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity

Neurologic Central Nervous System:
seizures
tetraplegia
hypertonia
lethargy
cerebral atrophy
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
increased urinary uracil
increased urinary thymine
decreased or absent dihydropyrimidine dehydrogenase activity


Clinical features from OMIM:

274270

Human phenotypes related to Dihydropyrimidine Dehydrogenase Deficiency:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 microphthalmia 32 HP:0000568
3 coloboma 32 HP:0000589
4 nystagmus 32 HP:0000639
5 optic atrophy 32 HP:0000648
6 autism 32 HP:0000717
7 delayed speech and language development 32 HP:0000750
8 hyperactivity 32 HP:0000752
9 intellectual disability 32 HP:0001249
10 seizures 32 HP:0001250
11 muscular hypotonia 32 HP:0001252
12 lethargy 32 HP:0001254
13 motor delay 32 HP:0001270
14 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
15 hypertonia 32 HP:0001276
16 generalized hypotonia 32 HP:0001290
17 failure to thrive 32 HP:0001508
18 growth delay 32 HP:0001510
19 cerebral atrophy 32 HP:0002059
20 tetraplegia 32 HP:0002445
21 reduced dihydropyrimidine dehydrogenase activity 32 HP:0003654

UMLS symptoms related to Dihydropyrimidine Dehydrogenase Deficiency:


lethargy, seizures

GenomeRNAi Phenotypes related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.53 ADSL COL11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.53 ADSL
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 COL11A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.53 COL11A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.53 COL11A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.53 COL11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.53 COL11A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.53 COL11A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.53 COL11A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.53 ADSL
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.53 COL11A1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.53 ADSL
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.53 ADSL
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.53 ADSL
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.53 COL11A1

Drugs & Therapeutics for Dihydropyrimidine Dehydrogenase Deficiency

Drugs for Dihydropyrimidine Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 3,Phase 2,Phase 1 51-21-8 3385
2
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
3 calcium heparin Phase 3
4 Lithium carbonate Phase 3 554-13-2
5
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
6
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
7
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
10 Antidotes Phase 2
11 Antineoplastic Agents, Phytogenic Phase 2
12 Hematinics Phase 2
13 Micronutrients Phase 2
14 Protective Agents Phase 2
15 topoisomerase I inhibitors Phase 2
16 Topoisomerase Inhibitors Phase 2
17 Trace Elements Phase 2
18 Vitamin B Complex Phase 2
19 Vitamins Phase 2
20 Folate Nutraceutical Phase 2
21 Vitamin B9 Nutraceutical Phase 2
22
Capecitabine Approved, Investigational Phase 1 154361-50-9 60953
23 Antimetabolites Phase 1
24 Antimetabolites, Antineoplastic Phase 1
25 Immunosuppressive Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pre-therapeutic Identification of Dihydropyrimidine Dehydrogenase Gene (DPD) Deficiency for Predicting Toxicity to Fluoropyrimidines Unknown status NCT01547923 Phase 3
2 Efficacy and Tolerance Evaluation in FOLFIRINOX Dose Adjusted in Elderly Patients With a Metastatic Pancreatic Cancer Recruiting NCT02143219 Phase 2 Oxaliplatine;Folinic acid;Irinotecan;5-FU
3 Pharmacogenomic and Pharmacokinetic Safety and Cost-saving Analysis in Patients Treated With Fluoropyrimidines Completed NCT00838370 Phase 1 Capecitabine, 5-fluorouracil
4 Food-effect Study on Uracil and Dihydrouracil Levels as a Diagnostic Marker of Dihydropyrimidine Dehydrogenase Activity Active, not recruiting NCT02718664 Not Applicable

Search NIH Clinical Center for Dihydropyrimidine Dehydrogenase Deficiency

Cochrane evidence based reviews: dihydropyrimidine dehydrogenase deficiency

Genetic Tests for Dihydropyrimidine Dehydrogenase Deficiency

Genetic tests related to Dihydropyrimidine Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Dihydropyrimidine Dehydrogenase Deficiency 29 DPYD

Anatomical Context for Dihydropyrimidine Dehydrogenase Deficiency

MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

41
Testes, Bone, Bone Marrow, Breast

Publications for Dihydropyrimidine Dehydrogenase Deficiency

Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50) (show all 88)
# Title Authors Year
1
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency. ( 28929491 )
2018
2
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G&amp;gt;A and a large intragenic inversion in DPYD spanning intron 8 to intron 12. ( 29691939 )
2018
3
Prompt treatment with uridine triacetate improves survival and reduces toxicity due to fluorouracil and capecitabine overdose or dihydropyrimidine dehydrogenase deficiency. ( 29908244 )
2018
4
Capecitabine Toxicity and Dihydropyrimidine Dehydrogenase Deficiency. ( 29889674 )
2018
5
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? ( 28275972 )
2017
6
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. ( 28395758 )
2017
7
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: The multiparametric approach is not convincing. ( 28923215 )
2017
8
Recommendation on testing for dihydropyrimidine dehydrogenase deficiency in the ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. ( 27701067 )
2016
9
Current insights into the impact of dihydropyrimidine dehydrogenase deficiency in patients receiving treatment with 5-fluorouracil. ( 27379945 )
2016
10
Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency. ( 26330092 )
2014
11
Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. ( 25565930 )
2014
12
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. ( 23856855 )
2013
13
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. ( 24014927 )
2013
14
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
15
An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. ( 24497719 )
2013
16
High-resolution melting analysis of the common c.1905+1G&amp;gt;A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. ( 23335937 )
2012
17
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMa88 gangliosidosis. ( 22353294 )
2012
18
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
19
A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. ( 21077799 )
2011
20
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. ( 21420945 )
2011
21
[Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]. ( 20087047 )
2010
22
[Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. ( 20146975 )
2010
23
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. ( 20544545 )
2010
24
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
25
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
26
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. ( 19081848 )
2008
27
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. ( 17064846 )
2007
28
[Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. ( 17582309 )
2007
29
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. ( 18846242 )
2007
30
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. ( 16537192 )
2006
31
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. ( 17000684 )
2006
32
Hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine. ( 17026792 )
2006
33
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? ( 16512996 )
2006
34
Dihydropyrimidine dehydrogenase deficiency in an Indian population. ( 16421754 )
2006
35
Unpredicted severe toxicity after 5-fluorouracil treatment due to dihydropyrimidine dehydrogenase deficiency. ( 16646564 )
2006
36
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. ( 17241513 )
2006
37
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? ( 17065072 )
2006
38
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. ( 16778115 )
2006
39
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. ( 16361556 )
2005
40
Screening for dihydropyrimidine dehydrogenase deficiency. ( 16033817 )
2005
41
Dihydropyrimidine dehydrogenase deficiency presenting at birth. ( 16151913 )
2005
42
Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature. ( 15700854 )
2004
43
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? ( 14705962 )
2004
44
[Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. ( 15083629 )
2004
45
Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test. ( 15102667 )
2004
46
5FU and oxaliplatin-containing chemotherapy in two dihydropyrimidine dehydrogenase-deficient patients. ( 15274386 )
2004
47
Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. ( 15377401 )
2004
48
Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. ( 16163233 )
2004
49
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. ( 15303009 )
2004
50
Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. ( 12542909 )
2003

Variations for Dihydropyrimidine Dehydrogenase Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 DPYD p.Cys29Arg VAR_005173 rs1801265
2 DPYD p.Arg235Trp VAR_005174 rs1801266
3 DPYD p.Arg886His VAR_005177 rs1801267

ClinVar genetic disease variations for Dihydropyrimidine Dehydrogenase Deficiency:

6
(show top 50) (show all 174)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
2 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh38 Chromosome 1, 97450058: 97450058
3 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 NCBI36 Chromosome 1, 97688202: 97688202
4 DPYD DPYD, 4-BP DEL, 296TCAT deletion Pathogenic
5 DPYD NM_000110.3(DPYD): c.85T> C (p.Cys29Arg) single nucleotide variant Pathogenic rs1801265 GRCh37 Chromosome 1, 98348885: 98348885
6 DPYD NM_000110.3(DPYD): c.85T> C (p.Cys29Arg) single nucleotide variant Pathogenic rs1801265 GRCh38 Chromosome 1, 97883329: 97883329
7 DPYD DPYD, 1-BP DEL, 1897C deletion Pathogenic
8 DPYD NM_000110.3(DPYD): c.2657G> A (p.Arg886His) single nucleotide variant Pathogenic rs1801267 GRCh37 Chromosome 1, 97564154: 97564154
9 DPYD NM_000110.3(DPYD): c.2657G> A (p.Arg886His) single nucleotide variant Pathogenic rs1801267 GRCh38 Chromosome 1, 97098598: 97098598
10 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 GRCh37 Chromosome 1, 97547947: 97547947
11 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 GRCh38 Chromosome 1, 97082391: 97082391
12 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 NCBI36 Chromosome 1, 97320535: 97320535
13 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 GRCh37 Chromosome 1, 97981343: 97981343
14 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 GRCh38 Chromosome 1, 97515787: 97515787
15 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 NCBI36 Chromosome 1, 97753931: 97753931
16 DPYD NM_000110.3(DPYD): c.496A> G (p.Met166Val) single nucleotide variant drug response rs2297595 GRCh37 Chromosome 1, 98165091: 98165091
17 DPYD NM_000110.3(DPYD): c.496A> G (p.Met166Val) single nucleotide variant drug response rs2297595 GRCh38 Chromosome 1, 97699535: 97699535
18 DPYD NM_000110.3(DPYD): c.496A> G (p.Met166Val) single nucleotide variant drug response rs2297595 NCBI36 Chromosome 1, 97937679: 97937679
19 DPYD NM_000110.3(DPYD): c.2043_2058del16 (p.Leu682Ilefs) deletion Likely pathogenic rs773499329 GRCh37 Chromosome 1, 97839117: 97839132
20 DPYD NM_000110.3(DPYD): c.2043_2058del16 (p.Leu682Ilefs) deletion Likely pathogenic rs773499329 GRCh38 Chromosome 1, 97373561: 97373576
21 DPYD NM_000110.3(DPYD): c.61C> T (p.Arg21Ter) single nucleotide variant Likely pathogenic rs72549310 GRCh37 Chromosome 1, 98348909: 98348909
22 DPYD NM_000110.3(DPYD): c.61C> T (p.Arg21Ter) single nucleotide variant Likely pathogenic rs72549310 GRCh38 Chromosome 1, 97883353: 97883353
23 DPYD NM_000110.3(DPYD): c.-122C> A single nucleotide variant Uncertain significance rs886046582 GRCh38 Chromosome 1, 97921044: 97921044
24 DPYD NM_000110.3(DPYD): c.2180-11G> A single nucleotide variant Uncertain significance rs377136032 GRCh38 Chromosome 1, 97305389: 97305389
25 DPYD NM_000110.3(DPYD): c.2180-11G> A single nucleotide variant Uncertain significance rs377136032 GRCh37 Chromosome 1, 97770945: 97770945
26 DPYD NM_000110.3(DPYD): c.1538C> G (p.Ala513Gly) single nucleotide variant Uncertain significance rs760663364 GRCh38 Chromosome 1, 97515928: 97515928
27 DPYD NM_000110.3(DPYD): c.1538C> G (p.Ala513Gly) single nucleotide variant Uncertain significance rs760663364 GRCh37 Chromosome 1, 97981484: 97981484
28 DPYD NM_000110.3(DPYD): c.1525-11G> A single nucleotide variant Uncertain significance rs55699321 GRCh38 Chromosome 1, 97515952: 97515952
29 DPYD NM_000110.3(DPYD): c.1525-11G> A single nucleotide variant Uncertain significance rs55699321 GRCh37 Chromosome 1, 97981508: 97981508
30 DPYD NM_000110.3(DPYD): c.1349C> G (p.Ala450Gly) single nucleotide variant Uncertain significance rs72975710 GRCh38 Chromosome 1, 97549735: 97549735
31 DPYD NM_000110.3(DPYD): c.1349C> G (p.Ala450Gly) single nucleotide variant Uncertain significance rs72975710 GRCh37 Chromosome 1, 98015291: 98015291
32 DPYD NM_000110.3(DPYD): c.1027A> T (p.Thr343Ser) single nucleotide variant Uncertain significance rs886046580 GRCh38 Chromosome 1, 97593319: 97593319
33 DPYD NM_000110.3(DPYD): c.1027A> T (p.Thr343Ser) single nucleotide variant Uncertain significance rs886046580 GRCh37 Chromosome 1, 98058875: 98058875
34 DPYD NM_000110.3(DPYD): c.995G> A (p.Arg332Gln) single nucleotide variant Uncertain significance rs747633945 GRCh38 Chromosome 1, 97593351: 97593351
35 DPYD NM_000110.3(DPYD): c.995G> A (p.Arg332Gln) single nucleotide variant Uncertain significance rs747633945 GRCh37 Chromosome 1, 98058907: 98058907
36 DPYD NM_000110.3(DPYD): c.*586C> T single nucleotide variant Uncertain significance rs886046571 GRCh37 Chromosome 1, 97543946: 97543946
37 DPYD NM_000110.3(DPYD): c.*586C> T single nucleotide variant Uncertain significance rs886046571 GRCh38 Chromosome 1, 97078390: 97078390
38 DPYD NM_000110.3(DPYD): c.2632A> G (p.Ser878Gly) single nucleotide variant Uncertain significance rs762911226 GRCh37 Chromosome 1, 97564179: 97564179
39 DPYD NM_000110.3(DPYD): c.2632A> G (p.Ser878Gly) single nucleotide variant Uncertain significance rs762911226 GRCh38 Chromosome 1, 97098623: 97098623
40 DPYD NM_000110.3(DPYD): c.2525G> T (p.Ser842Ile) single nucleotide variant Uncertain significance rs886046576 GRCh37 Chromosome 1, 97658722: 97658722
41 DPYD NM_000110.3(DPYD): c.2525G> T (p.Ser842Ile) single nucleotide variant Uncertain significance rs886046576 GRCh38 Chromosome 1, 97193166: 97193166
42 DPYD NM_000110.3(DPYD): c.2071G> T (p.Val691Leu) single nucleotide variant Uncertain significance rs202212118 GRCh38 Chromosome 1, 97306285: 97306285
43 DPYD NM_000110.3(DPYD): c.2071G> T (p.Val691Leu) single nucleotide variant Uncertain significance rs202212118 GRCh37 Chromosome 1, 97771841: 97771841
44 DPYD NM_000110.3(DPYD): c.1580C> T (p.Pro527Leu) single nucleotide variant Uncertain significance rs886046577 GRCh38 Chromosome 1, 97515886: 97515886
45 DPYD NM_000110.3(DPYD): c.1580C> T (p.Pro527Leu) single nucleotide variant Uncertain significance rs886046577 GRCh37 Chromosome 1, 97981442: 97981442
46 DPYD NM_000110.3(DPYD): c.1525-9A> G single nucleotide variant Uncertain significance rs56056384 GRCh38 Chromosome 1, 97515950: 97515950
47 DPYD NM_000110.3(DPYD): c.1525-9A> G single nucleotide variant Uncertain significance rs56056384 GRCh37 Chromosome 1, 97981506: 97981506
48 DPYD NM_000110.3(DPYD): c.1475C> T (p.Ser492Leu) single nucleotide variant Uncertain significance rs72549304 GRCh38 Chromosome 1, 97549609: 97549609
49 DPYD NM_000110.3(DPYD): c.1475C> T (p.Ser492Leu) single nucleotide variant Uncertain significance rs72549304 GRCh37 Chromosome 1, 98015165: 98015165
50 DPYD NM_000110.3(DPYD): c.703C> T (p.Arg235Trp) single nucleotide variant Uncertain significance rs1801266 GRCh37 Chromosome 1, 98157332: 98157332

Copy number variations for Dihydropyrimidine Dehydrogenase Deficiency from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 20881 1 155000000 156500000 Copy number DPYD Dihydropyrimidine dehydrogenase deficiency

Expression for Dihydropyrimidine Dehydrogenase Deficiency

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

Pathways for Dihydropyrimidine Dehydrogenase Deficiency

Pathways related to Dihydropyrimidine Dehydrogenase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Drug metabolism - other enzymes hsa00983

Pathways related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 ADSL DPYD DPYS TYMS UGT1A1 UGT1A6
2
Show member pathways
12.35 DPYD DPYS UGT1A1 UGT1A6 UMPS
3
Show member pathways
11.92 ADSL DPYD DPYS TYMS UMPS
4
Show member pathways
11.59 DPYD DPYS TYMS UMPS
5
Show member pathways
11.45 UGT1A1 UGT1A6
6
Show member pathways
11.36 ADSL DPYD DPYS TYMS UMPS
7
Show member pathways
11.35 UGT1A1 UGT1A6
8
Show member pathways
11.27 UGT1A1 UGT1A6
9
Show member pathways
11.25 UGT1A1 UGT1A6
10 11.18 UGT1A1 UGT1A6
11
Show member pathways
11.01 DPYD DPYS
12
Show member pathways
10.99 UGT1A1 UGT1A6
13 10.94 UGT1A1 UGT1A6
14 10.65 DPYD DPYS
15
Show member pathways
10.58 DPYD DPYS

GO Terms for Dihydropyrimidine Dehydrogenase Deficiency

Biological processes related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.7 UGT1A1 UGT1A6 UMPS
2 response to nutrient GO:0007584 9.51 ADSL UGT1A1
3 cartilage development GO:0051216 9.49 COL11A1 TYMS
4 response to glucocorticoid GO:0051384 9.48 TYMS UGT1A1
5 response to starvation GO:0042594 9.46 ADSL UGT1A1
6 cellular glucuronidation GO:0052695 9.43 UGT1A1 UGT1A6
7 xenobiotic glucuronidation GO:0052697 9.4 UGT1A1 UGT1A6
8 pyrimidine nucleoside catabolic process GO:0046135 9.37 DPYD DPYS
9 flavonoid glucuronidation GO:0052696 9.32 UGT1A1 UGT1A6
10 thymine catabolic process GO:0006210 9.26 DPYD DPYS
11 uracil catabolic process GO:0006212 9.16 DPYD DPYS
12 uracil metabolic process GO:0019860 8.96 DPYS TYMS
13 pyrimidine nucleobase catabolic process GO:0006208 8.62 DPYD DPYS

Molecular functions related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.62 DPYD TYMS UGT1A1 UGT1A6
2 transferase activity, transferring glycosyl groups GO:0016757 9.43 UGT1A1 UGT1A6 UMPS
3 transferase activity, transferring hexosyl groups GO:0016758 9.37 UGT1A1 UGT1A6
4 glucuronosyltransferase activity GO:0015020 9.16 UGT1A1 UGT1A6
5 retinoic acid binding GO:0001972 8.96 UGT1A1 UGT1A6
6 UDP-glycosyltransferase activity GO:0008194 8.62 UGT1A1 UGT1A6

Sources for Dihydropyrimidine Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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