DPYDD
MCID: DHY002
MIFTS: 58

Dihydropyrimidine Dehydrogenase Deficiency (DPYDD)

Categories: Bone diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 lung cancer, and has symptoms including seizures and lethargy. 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 Lithium carbonate and Heparin have been mentioned in the context of this disorder. Affiliated tissues include testes, colon and bone, and related phenotypes are agenesis of corpus callosum and nystagmus

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.

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.

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.

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

Related Diseases for Dihydropyrimidine Dehydrogenase Deficiency

Diseases related to Dihydropyrimidine Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 dihydropyrimidinase deficiency 32.7 DPYD DPYS
2 lung cancer 10.6
3 small cell cancer of the lung 10.5
4 squamous cell carcinoma 10.4
5 pancreatic cancer 10.4
6 colorectal cancer 10.4
7 hepatocellular carcinoma 10.4
8 oral squamous cell carcinoma 10.4
9 bladder cancer 10.2
10 esophageal cancer 10.2
11 renal cell carcinoma, nonpapillary 10.2
12 ovarian cancer 10.2
13 beta-ureidopropionase deficiency 10.1 DPYD DPYS
14 prostate cancer 10.1
15 suppressor of tumorigenicity 3 10.1
16 lung cancer susceptibility 3 10.1
17 cholangiocarcinoma 10.1
18 intrahepatic cholangiocarcinoma 10.1
19 gastrointestinal carcinoma 10.1 DPYD TYMS
20 xanthinuria 10.0 ADSL DPYS
21 breast cancer 10.0
22 brittle bone disorder 10.0
23 gastric cancer 10.0
24 anaplastic large cell lymphoma 10.0
25 neutropenia 10.0
26 lymphoma 10.0
27 cicatricial ectropion 10.0
28 ectropion 10.0
29 epilepsy 10.0
30 mucositis 10.0 DPYD TYMS
31 bilirubin, serum level of, quantitative trait locus 1 10.0 UGT1A1 UGT1A6
32 colorectal cancer 5 10.0 DPYD UMPS
33 kernicterus 10.0 UGT1A1 UGT1A6
34 descending colon cancer 10.0 UGT1A1 UGT1A6
35 pigmentation disease 10.0 UGT1A1 UGT1A6
36 crigler-najjar syndrome, type i 10.0 UGT1A1 UGT1A6
37 cervical cancer 10.0
38 nasopharyngeal carcinoma 10.0
39 pancreas adenocarcinoma 10.0
40 pancreatic ductal adenocarcinoma 10.0
41 biliary tract neoplasm 10.0
42 adenoid cystic carcinoma 10.0
43 sarcoma 10.0
44 gallbladder cancer 10.0
45 thymoma 10.0
46 mammary paget's disease 10.0
47 ariboflavinosis 10.0
48 herpes zoster 10.0
49 soft tissue sarcoma 10.0
50 hypotonia 10.0

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

UMLS symptoms related to Dihydropyrimidine Dehydrogenase Deficiency:


seizures, lethargy

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.55 ADSL COL11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.55 COL11A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.55 ADSL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 COL11A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.55 COL11A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.55 COL11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.55 COL11A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.55 COL11A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.55 COL11A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.55 COL11A1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.55 ADSL
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.55 COL11A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.55 ADSL
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.55 ADSL
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.55 ADSL
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.55 COL11A1

Drugs & Therapeutics for Dihydropyrimidine Dehydrogenase Deficiency

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Phase 3 554-13-2
2
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
3
Fluorouracil Approved Phase 3,Phase 2,Phase 1 51-21-8 3385
4 calcium heparin Phase 3
5
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
6
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
7
leucovorin Approved Phase 2 58-05-9 6006 143
8
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10 Antineoplastic Agents, Phytogenic Phase 2
11 Topoisomerase Inhibitors Phase 2
12 Vitamins Phase 2
13 Vitamin B9 Phase 2
14 Trace Elements Phase 2
15 Protective Agents Phase 2
16 Antidotes Phase 2
17 topoisomerase I inhibitors Phase 2
18 Hematinics Phase 2
19 Folate Phase 2
20 Micronutrients Phase 2
21 Vitamin B Complex Phase 2
22
Capecitabine Approved, Investigational Phase 1 154361-50-9 60953
23 Immunologic Factors Phase 1
24 Antimetabolites, Antineoplastic Phase 1
25 Immunosuppressive Agents Phase 1
26 Antimetabolites 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, Colon, Bone, Breast, Lung, Prostate, Pancreas

Publications for Dihydropyrimidine Dehydrogenase Deficiency

Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50) (show all 104)
# 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
Cost Implications of Reactive Versus Prospective Testing for Dihydropyrimidine Dehydrogenase Deficiency in Patients With Colorectal Cancer: A Single-Institution Experience. ( 30288154 )
2018
6
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1. ( 30349988 )
2018
7
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? ( 28275972 )
2017
8
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. ( 28395758 )
2017
9
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: The multiparametric approach is not convincing. ( 28923215 )
2017
10
Capecitabine-Induced Severe Toxicity Secondary to DPD Deficiency and Successful Treatment with Low Dose 5-Fluorouracil. ( 26744322 )
2017
11
Capecitabine-Induced Severe Toxicity Secondary to DPD Deficiency and Successful Treatment with Low Dose 5-Fluorouracil. ( 28025815 )
2017
12
UPFRONT DPD DEFICIENCY DETECTION TO SECURE 5-FU ADMINISTRATION: PART 2- APPLICATION TO HEAD-AND-NECK CANCER PATIENTS. ( 29682445 )
2017
13
Recommendation on testing for dihydropyrimidine dehydrogenase deficiency in the ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. ( 27701067 )
2016
14
Current insights into the impact of dihydropyrimidine dehydrogenase deficiency in patients receiving treatment with 5-fluorouracil. ( 27379945 )
2016
15
Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines. ( 27544765 )
2016
16
DPD deficiency in patients treated with fluorouracil. ( 26603944 )
2015
17
Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency. ( 26330092 )
2014
18
Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. ( 25565930 )
2014
19
Delayed Presentation of DPD Deficiency in Colorectal Cancer. ( 25089219 )
2014
20
Predictive testing for DPD deficiency in a patient with familial history of fluoropyrimidine-associated toxicity. ( 29764069 )
2014
21
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. ( 23856855 )
2013
22
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. ( 24014927 )
2013
23
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
24
An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. ( 24497719 )
2013
25
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
26
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMa88 gangliosidosis. ( 22353294 )
2012
27
Reversible leukoencephalopathy with stroke-like presentation in a patient with 5-dihydropyrimidine dehydrogenase deficiency treated with continuous 5-fluorouracil infusion. ( 22410472 )
2012
28
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
29
A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. ( 21077799 )
2011
30
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. ( 21420945 )
2011
31
5-FU-induced neurotoxicity in cancer patients with profound DPD deficiency syndrome: a report of two cases. ( 21553285 )
2011
32
Pharmacokinetics of orally administered uracil in healthy volunteers and in DPD-deficient patients, a possible tool for screening of DPD deficiency. ( 21590448 )
2011
33
[Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]. ( 20087047 )
2010
34
[Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. ( 20146975 )
2010
35
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. ( 20544545 )
2010
36
Lethal outcome of 5-fluorouracil infusion in a patient with a total DPD deficiency and a double DPYD and UTG1A1 gene mutation. ( 20653683 )
2010
37
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
38
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
39
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. ( 19081848 )
2008
40
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. ( 17064846 )
2007
41
[Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. ( 17582309 )
2007
42
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. ( 18846242 )
2007
43
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. ( 16537192 )
2006
44
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. ( 17000684 )
2006
45
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? ( 16512996 )
2006
46
Dihydropyrimidine dehydrogenase deficiency in an Indian population. ( 16421754 )
2006
47
Unpredicted severe toxicity after 5-fluorouracil treatment due to dihydropyrimidine dehydrogenase deficiency. ( 16646564 )
2006
48
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. ( 17241513 )
2006
49
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? ( 17065072 )
2006
50
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. ( 16778115 )
2006

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 287)
# 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 Benign rs1801265 GRCh37 Chromosome 1, 98348885: 98348885
6 DPYD NM_000110.3(DPYD): c.85T> C (p.Cys29Arg) single nucleotide variant Benign 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 Uncertain significance rs1801267 GRCh37 Chromosome 1, 97564154: 97564154
9 DPYD NM_000110.3(DPYD): c.2657G> A (p.Arg886His) single nucleotide variant Uncertain significance rs1801267 GRCh38 Chromosome 1, 97098598: 97098598
10 DPYD NM_000110.3(DPYD): c.2276G> A (p.Arg759Gln) single nucleotide variant Uncertain significance rs267598786 GRCh37 Chromosome 1, 97770838: 97770838
11 DPYD NM_000110.3(DPYD): c.2276G> A (p.Arg759Gln) single nucleotide variant Uncertain significance rs267598786 GRCh38 Chromosome 1, 97305282: 97305282
12 DPYD NM_000110.3(DPYD): c.2276G> A (p.Arg759Gln) single nucleotide variant Uncertain significance rs267598786 NCBI36 Chromosome 1, 97543426: 97543426
13 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 GRCh37 Chromosome 1, 97547947: 97547947
14 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 GRCh38 Chromosome 1, 97082391: 97082391
15 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 NCBI36 Chromosome 1, 97320535: 97320535
16 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 GRCh37 Chromosome 1, 97981343: 97981343
17 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 GRCh38 Chromosome 1, 97515787: 97515787
18 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 NCBI36 Chromosome 1, 97753931: 97753931
19 DPYD NM_000110.3(DPYD): c.*900T> C single nucleotide variant Uncertain significance rs17470762 GRCh37 Chromosome 1, 97543632: 97543632
20 DPYD NM_000110.3(DPYD): c.*900T> C single nucleotide variant Uncertain significance rs17470762 GRCh38 Chromosome 1, 97078076: 97078076
21 DPYD NM_000110.3(DPYD): c.*900T> C single nucleotide variant Uncertain significance rs17470762 NCBI36 Chromosome 1, 97316220: 97316220
22 DPYD NM_000110.3(DPYD): c.*780C> T single nucleotide variant Likely benign rs291593 GRCh37 Chromosome 1, 97543752: 97543752
23 DPYD NM_000110.3(DPYD): c.*780C> T single nucleotide variant Likely benign rs291593 GRCh38 Chromosome 1, 97078196: 97078196
24 DPYD NM_000110.3(DPYD): c.*780C> T single nucleotide variant Likely benign rs291593 NCBI36 Chromosome 1, 97316340: 97316340
25 DPYD NM_000110.3(DPYD): c.*768G> A single nucleotide variant Benign rs291592 GRCh37 Chromosome 1, 97543764: 97543764
26 DPYD NM_000110.3(DPYD): c.*768G> A single nucleotide variant Benign rs291592 GRCh38 Chromosome 1, 97078208: 97078208
27 DPYD NM_000110.3(DPYD): c.*768G> A single nucleotide variant Benign rs291592 NCBI36 Chromosome 1, 97316352: 97316352
28 DPYD NM_000110.3(DPYD): c.*573G> A single nucleotide variant Likely benign rs1042482 GRCh37 Chromosome 1, 97543959: 97543959
29 DPYD NM_000110.3(DPYD): c.*573G> A single nucleotide variant Likely benign rs1042482 GRCh38 Chromosome 1, 97078403: 97078403
30 DPYD NM_000110.3(DPYD): c.*573G> A single nucleotide variant Likely benign rs1042482 NCBI36 Chromosome 1, 97316547: 97316547
31 DPYD NM_000110.3(DPYD): c.2766+19A> G single nucleotide variant Likely benign rs375268978 GRCh37 Chromosome 1, 97564026: 97564026
32 DPYD NM_000110.3(DPYD): c.2766+19A> G single nucleotide variant Likely benign rs375268978 GRCh38 Chromosome 1, 97098470: 97098470
33 DPYD NM_000110.3(DPYD): c.2766+19A> G single nucleotide variant Likely benign rs375268978 NCBI36 Chromosome 1, 97336614: 97336614
34 DPYD NM_000110.3(DPYD): c.2194G> A (p.Val732Ile) single nucleotide variant Benign/Likely benign rs1801160 GRCh37 Chromosome 1, 97770920: 97770920
35 DPYD NM_000110.3(DPYD): c.2194G> A (p.Val732Ile) single nucleotide variant Benign/Likely benign rs1801160 GRCh38 Chromosome 1, 97305364: 97305364
36 DPYD NM_000110.3(DPYD): c.2194G> A (p.Val732Ile) single nucleotide variant Benign/Likely benign rs1801160 NCBI36 Chromosome 1, 97543508: 97543508
37 DPYD NM_000110.3(DPYD): c.1896T> C (p.Phe632=) single nucleotide variant Benign/Likely benign rs17376848 GRCh37 Chromosome 1, 97915624: 97915624
38 DPYD NM_000110.3(DPYD): c.1896T> C (p.Phe632=) single nucleotide variant Benign/Likely benign rs17376848 GRCh38 Chromosome 1, 97450068: 97450068
39 DPYD NM_000110.3(DPYD): c.1896T> C (p.Phe632=) single nucleotide variant Benign/Likely benign rs17376848 NCBI36 Chromosome 1, 97688212: 97688212
40 DPYD NM_000110.3(DPYD): c.1627A> G (p.Ile543Val) single nucleotide variant Benign/Likely benign rs1801159 GRCh37 Chromosome 1, 97981395: 97981395
41 DPYD NM_000110.3(DPYD): c.1627A> G (p.Ile543Val) single nucleotide variant Benign/Likely benign rs1801159 GRCh38 Chromosome 1, 97515839: 97515839
42 DPYD NM_000110.3(DPYD): c.1627A> G (p.Ile543Val) single nucleotide variant Benign/Likely benign rs1801159 NCBI36 Chromosome 1, 97753983: 97753983
43 DPYD NM_000110.3(DPYD): c.1601G> A (p.Ser534Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1801158 GRCh37 Chromosome 1, 97981421: 97981421
44 DPYD NM_000110.3(DPYD): c.1601G> A (p.Ser534Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1801158 GRCh38 Chromosome 1, 97515865: 97515865
45 DPYD NM_000110.3(DPYD): c.1601G> A (p.Ser534Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1801158 NCBI36 Chromosome 1, 97754009: 97754009
46 DPYD NM_000110.3(DPYD): c.1555C> T (p.Pro519Ser) single nucleotide variant Uncertain significance rs672601282 GRCh37 Chromosome 1, 97981467: 97981467
47 DPYD NM_000110.3(DPYD): c.1555C> T (p.Pro519Ser) single nucleotide variant Uncertain significance rs672601282 GRCh38 Chromosome 1, 97515911: 97515911
48 DPYD NM_000110.3(DPYD): c.1555C> T (p.Pro519Ser) single nucleotide variant Uncertain significance rs672601282 NCBI36 Chromosome 1, 97754055: 97754055
49 DPYD NM_000110.3(DPYD): c.1524+16C> A single nucleotide variant Likely benign rs199469537 GRCh37 Chromosome 1, 98015100: 98015100
50 DPYD NM_000110.3(DPYD): c.1524+16C> A single nucleotide variant Likely benign rs199469537 GRCh38 Chromosome 1, 97549544: 97549544

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
12.36 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 UGT1A1 UGT1A6
7
Show member pathways
11.36 ADSL DPYD DPYS TYMS UMPS
8
Show member pathways
11.33 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 12)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.51 ADSL UGT1A1
2 cartilage development GO:0051216 9.49 COL11A1 TYMS
3 response to glucocorticoid GO:0051384 9.48 TYMS UGT1A1
4 response to starvation GO:0042594 9.46 ADSL UGT1A1
5 cellular glucuronidation GO:0052695 9.43 UGT1A1 UGT1A6
6 pyrimidine nucleoside catabolic process GO:0046135 9.4 DPYD DPYS
7 xenobiotic glucuronidation GO:0052697 9.37 UGT1A1 UGT1A6
8 flavonoid glucuronidation GO:0052696 9.32 UGT1A1 UGT1A6
9 thymine catabolic process GO:0006210 9.26 DPYD DPYS
10 pyrimidine nucleobase catabolic process GO:0006208 9.16 DPYD DPYS
11 uracil catabolic process GO:0006212 8.96 DPYD DPYS
12 uracil metabolic process GO:0019860 8.62 DPYS TYMS

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 9.71 DPYD TYMS UGT1A1 UGT1A6
2 transferase activity, transferring glycosyl groups GO:0016757 9.5 UGT1A1 UGT1A6 UMPS
3 transferase activity, transferring hexosyl groups GO:0016758 9.37 UGT1A1 UGT1A6
4 glucuronosyltransferase activity GO:0015020 9.26 UGT1A1 UGT1A6
5 retinoic acid binding GO:0001972 9.16 UGT1A1 UGT1A6
6 UDP-glycosyltransferase activity GO:0008194 8.96 UGT1A1 UGT1A6
7 uracil binding GO:0002058 8.62 DPYD DPYS

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
Content
Loading form....