DPYDD
MCID: DHY002
MIFTS: 57

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 58 12 77 54 26 60 76 38 30 6 45 15 41 74
Dpd Deficiency 58 54 26 76
Hereditary Thymine-Uraciluria 54 26 76
5-Fluorouracil Toxicity 58 60 13
Familial Pyrimidinemia 54 60 76
Dihydropyrimidinuria 26 76 74
Dpyd Deficiency 58 76
Dihydrouracil Dehydrogenase Deficiency 12
Dihydropyrimidine Dehydrogenase 13
Thymine-Uraciluria, Hereditary 58
Pyrimidinemia, Familial 58
Familial Pyrimidinaemia 12
Pyrimidinemia Familial 77
Familial Pyrimidemia 26
Thymine-Uracilurea 12
Dpydd 76

Characteristics:

Orphanet epidemiological data:

60
dihydropyrimidine dehydrogenase deficiency
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
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:

33
dihydropyrimidine dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dihydropyrimidine Dehydrogenase Deficiency

NIH Rare Diseases : 54 Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides, thymineanduracil. DPD deficiency can have a has a wide range of severity.  Most people have no obvious signs or symptoms, but some develop serious neurological problems as infants.  In infants with severe DPD deficiency, the signs and symptoms may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. It is not clear why some individuals with DPD deficiency have symptoms and others don't.  DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. Babies with the severe form of DPD deficiency may be diagnosed based on the symptoms, and additional laboratory testing. Treatment for the severe form is based on the symptoms.   All individuals with the DPD deficiency, 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. 

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 Fluorouracil and Heparin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and breast, 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 : 26 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 : 58 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 : 76 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 : 77 Dihydropyrimidine dehydrogenase deficiency is an autosomal recessivemetabolic disorder in which there is... 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 78)
# Related Disease Score Top Affiliating Genes
1 dihydropyrimidinase deficiency 32.9 DPYD DPYS
2 lung cancer 10.6
3 small cell cancer of the lung 10.5
4 squamous cell carcinoma 10.5
5 pancreatic cancer 10.4
6 oral squamous cell carcinoma 10.4
7 colorectal cancer 10.4
8 hepatocellular carcinoma 10.4
9 pyrimidine metabolic disorder 10.2 DPYD DPYS
10 bladder cancer 10.2
11 renal cell carcinoma, nonpapillary 10.2
12 lung cancer susceptibility 3 10.2
13 beta-ureidopropionase deficiency 10.2 DPYD DPYS
14 prostate cancer 10.1
15 suppressor of tumorigenicity 3 10.1
16 prostate cancer, hereditary, 8 10.1
17 prostate cancer, hereditary, 6 10.1
18 cholangiocarcinoma 10.1
19 pancreas adenocarcinoma 10.1
20 gallbladder cancer 10.1
21 intrahepatic cholangiocarcinoma 10.1
22 gastrointestinal carcinoma 10.1 DPYD TYMS
23 breast cancer 10.0
24 enterocolitis 10.0
25 brittle bone disorder 10.0
26 gastric cancer 10.0
27 anaplastic large cell lymphoma 10.0
28 neutropenia 10.0
29 lymphoma 10.0
30 cicatricial ectropion 10.0
31 ectropion 10.0
32 epilepsy 10.0
33 focal epilepsy 10.0
34 col1a1/2-related osteogenesis imperfecta 10.0
35 gangliosidosis 10.0
36 xp22.3 microdeletion syndrome 10.0
37 xanthinuria 10.0 ADSL DPYS
38 mucositis 10.0 DPYD TYMS
39 neutrophil actin dysfunction 10.0
40 thymoma, familial 10.0
41 cervical cancer 10.0
42 nasopharyngeal carcinoma 10.0
43 pancreatic ductal adenocarcinoma 10.0
44 adenoid cystic carcinoma 10.0
45 sarcoma 10.0
46 thymoma 10.0
47 mammary paget's disease 10.0
48 ariboflavinosis 10.0
49 herpes zoster 10.0
50 biliary tract cancer 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

Human phenotypes related to Dihydropyrimidine Dehydrogenase Deficiency:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 33 occasional (7.5%) HP:0001274
2 nystagmus 33 HP:0000639
3 intellectual disability 33 HP:0001249
4 seizures 33 HP:0001250
5 muscular hypotonia 33 HP:0001252
6 failure to thrive 33 HP:0001508
7 tetraplegia 33 HP:0002445
8 delayed speech and language development 33 HP:0000750
9 microcephaly 33 HP:0000252
10 optic atrophy 33 HP:0000648
11 hypertonia 33 HP:0001276
12 autism 33 HP:0000717
13 growth delay 33 HP:0001510
14 motor delay 33 HP:0001270
15 microphthalmia 33 HP:0000568
16 lethargy 33 HP:0001254
17 generalized hypotonia 33 HP:0001290
18 hyperactivity 33 HP:0000752
19 cerebral atrophy 33 HP:0002059
20 coloboma 33 HP:0000589
21 reduced dihydropyrimidine dehydrogenase activity 33 HP:0003654

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Dihydropyrimidine Dehydrogenase Deficiency:


seizures, lethargy

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

27 (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 34)
# 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 46507594 772
3
Lithium carbonate Approved Phase 3 554-13-2
4 calcium heparin Phase 3
5
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
6
leucovorin Approved Phase 2 58-05-9 143 6006
7
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
8
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
9
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
10
Adenosine Approved, Investigational Phase 2 58-61-7 60961
11
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13 Antimetabolites Phase 2,Phase 1
14 Antimetabolites, Antineoplastic Phase 2,Phase 1
15 Vitamins Phase 2
16 Vitamin B9 Phase 2
17 Folate Phase 2
18 topoisomerase I inhibitors Phase 2
19 Micronutrients Phase 2
20 Topoisomerase Inhibitors Phase 2
21 Hematinics Phase 2
22 Protective Agents Phase 2
23 Vitamin B Complex Phase 2
24 Trace Elements Phase 2
25 Antidotes Phase 2
26 Nutrients Phase 2
27 Ado-trastuzumab emtansine Phase 2
28 Antineoplastic Agents, Immunological Phase 2
29 Antimitotic Agents Phase 2
30 Maytansine Phase 2
31 Mitogens Phase 2
32 Antineoplastic Agents, Phytogenic Phase 2
33 Immunologic Factors Phase 1
34 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 Active, not recruiting NCT02143219 Phase 2 Oxaliplatine;Folinic acid;Irinotecan;5-FU
3 A Combination Study of Kadcyla (Trastuzumab Emtansine) and Capecitabine in Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast Cancer (mBC) or HER2-Positive Locally Advanced/Metastatic Gastric Cancer (LA/mGC) Terminated NCT01702558 Phase 2 Capecitabine;Trastuzumab emtansine (T-DM1);Trastuzumab emtansine (T-DM1);Capecitabine
4 Pharmacogenomic and Pharmacokinetic Safety and Cost-saving Analysis in Patients Treated With Fluoropyrimidines Completed NCT00838370 Phase 1 Capecitabine, 5-fluorouracil
5 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 30 DPYD

Anatomical Context for Dihydropyrimidine Dehydrogenase Deficiency

MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

42
Testes, Bone, Breast, Lung, Prostate, Colon, Heart

Publications for Dihydropyrimidine Dehydrogenase Deficiency

Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50) (show all 119)
# Title Authors Year
1
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1. ( 30349988 )
2019
2
Cytomegalovirus enterocolitis in a patient with dihydropyrimidine dehydrogenase deficiency after capecitabine treatment: A case report. ( 30831507 )
2019
3
Cost Implications of Reactive Versus Prospective Testing for Dihydropyrimidine Dehydrogenase Deficiency in Patients With Colorectal Cancer: A Single-Institution Experience. ( 30288154 )
2018
4
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency. ( 28929491 )
2018
5
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12. ( 29691939 )
2018
6
Capecitabine Toxicity and Dihydropyrimidine Dehydrogenase Deficiency. ( 29889674 )
2018
7
Prompt treatment with uridine triacetate improves survival and reduces toxicity due to fluorouracil and capecitabine overdose or dihydropyrimidine dehydrogenase deficiency. ( 29908244 )
2018
8
Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity. ( 30775324 )
2018
9
Recommendation on testing for dihydropyrimidine dehydrogenase deficiency in the ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. ( 27701067 )
2017
10
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? ( 28275972 )
2017
11
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. ( 28395758 )
2017
12
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: The multiparametric approach is not convincing. ( 28923215 )
2017
13
Capecitabine-Induced Severe Toxicity Secondary to DPD Deficiency and Successful Treatment with Low Dose 5-Fluorouracil. ( 26744322 )
2017
14
Capecitabine-Induced Severe Toxicity Secondary to DPD Deficiency and Successful Treatment with Low Dose 5-Fluorouracil. ( 28025815 )
2017
15
UPFRONT DPD DEFICIENCY DETECTION TO SECURE 5-FU ADMINISTRATION: PART 2- APPLICATION TO HEAD-AND-NECK CANCER PATIENTS. ( 29682445 )
2017
16
Current insights into the impact of dihydropyrimidine dehydrogenase deficiency in patients receiving treatment with 5-fluorouracil. ( 27379945 )
2016
17
Lethal 5-fluorouracil toxicity in a colorectal patient with severe dihydropyrimidine dehydrogenase (DPD) deficiency. ( 25796495 )
2016
18
Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio. ( 26265035 )
2016
19
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
20
DPD deficiency in patients treated with fluorouracil. ( 26603944 )
2015
21
Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. ( 25565930 )
2014
22
Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency. ( 26330092 )
2014
23
Delayed Presentation of DPD Deficiency in Colorectal Cancer. ( 25089219 )
2014
24
Predictive testing for DPD deficiency in a patient with familial history of fluoropyrimidine-associated toxicity. ( 29764069 )
2014
25
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
26
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. ( 23856855 )
2013
27
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. ( 24014927 )
2013
28
An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. ( 24497719 )
2013
29
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GM₁ gangliosidosis. ( 22353294 )
2012
30
Reversible leukoencephalopathy with stroke-like presentation in a patient with 5-dihydropyrimidine dehydrogenase deficiency treated with continuous 5-fluorouracil infusion. ( 22410472 )
2012
31
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
32
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. ( 23335937 )
2012
33
A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. ( 21077799 )
2011
34
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. ( 21420945 )
2011
35
5-FU-induced neurotoxicity in cancer patients with profound DPD deficiency syndrome: a report of two cases. ( 21553285 )
2011
36
Pharmacokinetics of orally administered uracil in healthy volunteers and in DPD-deficient patients, a possible tool for screening of DPD deficiency. ( 21590448 )
2011
37
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. ( 20544545 )
2010
38
Lethal outcome of 5-fluorouracil infusion in a patient with a total DPD deficiency and a double DPYD and UTG1A1 gene mutation. ( 20653683 )
2010
39
[Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]. ( 20087047 )
2010
40
[Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. ( 20146975 )
2010
41
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
42
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
43
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. ( 19081848 )
2008
44
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. ( 17064846 )
2007
45
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. ( 18846242 )
2007
46
DPYD*2A mutation: the most common mutation associated with DPD deficiency. ( 17165084 )
2007
47
[Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. ( 17582309 )
2007
48
Dihydropyrimidine dehydrogenase deficiency in an Indian population. ( 16421754 )
2006
49
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? ( 16512996 )
2006
50
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. ( 16537192 )
2006

Variations for Dihydropyrimidine Dehydrogenase Deficiency

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

76
# 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 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPYD DPYD, 4-BP DEL, 296TCAT deletion Pathogenic
2 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
3 DPYD NM_000110.3(DPYD): c.85T> C (p.Cys29Arg) single nucleotide variant Benign rs1801265 GRCh37 Chromosome 1, 98348885: 98348885
4 DPYD NM_000110.3(DPYD): c.85T> C (p.Cys29Arg) single nucleotide variant Benign rs1801265 GRCh38 Chromosome 1, 97883329: 97883329
5 DPYD DPYD, 1-BP DEL, 1897C deletion Pathogenic
6 DPYD NM_000110.3(DPYD): c.2657G> A (p.Arg886His) single nucleotide variant Uncertain significance rs1801267 GRCh37 Chromosome 1, 97564154: 97564154
7 DPYD NM_000110.3(DPYD): c.2657G> A (p.Arg886His) single nucleotide variant Uncertain significance rs1801267 GRCh38 Chromosome 1, 97098598: 97098598
8 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh38 Chromosome 1, 97450058: 97450058
9 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 NCBI36 Chromosome 1, 97688202: 97688202
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:

38
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 ADSL DPYD DPYS TYMS UGT1A1 UGT1A6
2 12.18 UGT1A1 UGT1A6 UGT1A8
3
Show member pathways
12.08 DPYD DPYS UGT1A1 UGT1A6 UGT1A8
4
Show member pathways
11.99 UGT1A1 UGT1A6 UGT1A8
5
Show member pathways
11.34 UGT1A1 UGT1A6
6
Show member pathways
11.33 UGT1A1 UGT1A6 UGT1A8
7 11.21 UGT1A1 UGT1A6
8
Show member pathways
11.15 UGT1A1 UGT1A6 UGT1A8
9
Show member pathways
11.03 DPYD DPYS
10 10.98 UGT1A1 UGT1A6
11 10.73 UGT1A6 UGT1A8
12 10.65 DPYD DPYS
13
Show member pathways
10.58 DPYD DPYS
14
Show member pathways
10.33 UGT1A1 UGT1A6 UGT1A8

GO Terms for Dihydropyrimidine Dehydrogenase Deficiency

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.56 ADSL UGT1A1
2 cartilage development GO:0051216 9.55 COL11A1 TYMS
3 response to glucocorticoid GO:0051384 9.54 TYMS UGT1A1
4 negative regulation of catalytic activity GO:0043086 9.52 UGT1A1 UGT1A8
5 response to starvation GO:0042594 9.51 ADSL UGT1A1
6 cellular glucuronidation GO:0052695 9.49 UGT1A1 UGT1A6
7 retinoic acid metabolic process GO:0042573 9.48 UGT1A1 UGT1A8
8 pyrimidine nucleoside catabolic process GO:0046135 9.46 DPYD DPYS
9 flavone metabolic process GO:0051552 9.43 UGT1A1 UGT1A8
10 thymine catabolic process GO:0006210 9.4 DPYD DPYS
11 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
12 pyrimidine nucleobase catabolic process GO:0006208 9.32 DPYD DPYS
13 uracil catabolic process GO:0006212 9.26 DPYD DPYS
14 uracil metabolic process GO:0019860 9.16 DPYS TYMS
15 xenobiotic glucuronidation GO:0052697 9.13 UGT1A1 UGT1A6 UGT1A8
16 flavonoid glucuronidation GO:0052696 8.8 UGT1A1 UGT1A6 UGT1A8

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 9.77 DPYD TYMS UGT1A1 UGT1A6 UGT1A8
2 transferase activity, transferring glycosyl groups GO:0016757 9.61 UGT1A1 UGT1A6 UGT1A8
3 enzyme inhibitor activity GO:0004857 9.46 UGT1A1 UGT1A8
4 transferase activity, transferring hexosyl groups GO:0016758 9.43 UGT1A1 UGT1A6 UGT1A8
5 steroid binding GO:0005496 9.4 UGT1A1 UGT1A8
6 glucuronosyltransferase activity GO:0015020 9.33 UGT1A1 UGT1A6 UGT1A8
7 uracil binding GO:0002058 9.32 DPYD DPYS
8 retinoic acid binding GO:0001972 9.13 UGT1A1 UGT1A6 UGT1A8
9 UDP-glycosyltransferase activity GO:0008194 8.8 UGT1A1 UGT1A6 UGT1A8

Sources for Dihydropyrimidine Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....