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 53 12 72 49 24 55 71 36 28 41 14 69
Dpd Deficiency 53 49 24 71
Hereditary Thymine-Uraciluria 49 24 71
5-Fluorouracil Toxicity 53 55 13
Familial Pyrimidinemia 49 55 71
Dihydropyrimidinuria 24 71 69
Dpyd Deficiency 53 71
Dihydrouracil Dehydrogenase Deficiency 12
Dihydropyrimidine Dehydrogenase 13
Thymine-Uraciluria, Hereditary 53
Pyrimidinemia, Familial 53
Familial Pyrimidinaemia 12
Pyrimidinemia Familial 72
Familial Pyrimidemia 24
Thymine-Uracilurea 12
Dpydd 71

Characteristics:

Orphanet epidemiological data:

55
dihydropyrimidine dehydrogenase deficiency
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
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:

31
dihydropyrimidine dehydrogenase deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dihydropyrimidine Dehydrogenase Deficiency

NIH Rare Diseases : 49 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. Last updated: 8/20/2012

MalaCards based summary : Dihydropyrimidine Dehydrogenase Deficiency, also known as dpd deficiency, is related to dihydropyrimidinase deficiency and beta-ureidopropionase deficiency, and has symptoms including seizures, lethargy and agenesis of corpus callosum. 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 Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 : 24 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 : 53 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 : 71 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 : 72 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:

53
Neurologic Central Nervous System:
seizures
lethargy
tetraplegia
hypertonia
cerebral atrophy
more
Growth Other:
failure to thrive
growth retardation

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity

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

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 lethargy 31 HP:0001254
3 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
4 nystagmus 31 HP:0000639
5 intellectual disability 31 HP:0001249
6 failure to thrive 31 HP:0001508
7 tetraplegia 31 HP:0002445
8 delayed speech and language development 31 HP:0000750
9 microcephaly 31 HP:0000252
10 optic atrophy 31 HP:0000648
11 hypertonia 31 HP:0001276
12 autism 31 HP:0000717
13 growth delay 31 HP:0001510
14 microphthalmia 31 HP:0000568
15 motor delay 31 HP:0001270
16 hyperactivity 31 HP:0000752
17 cerebral atrophy 31 HP:0002059
18 generalized hypotonia 31 HP:0001290
19 coloboma 31 HP:0000589
20 reduced dihydropyrimidine dehydrogenase activity 31 HP:0003654

UMLS symptoms related to Dihydropyrimidine Dehydrogenase Deficiency:


seizures, lethargy

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

25 (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 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 46507594 772
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 43805 6857599 5310940 9887054
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

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 28 DPYD

Anatomical Context for Dihydropyrimidine Dehydrogenase Deficiency

MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

38
Testes, Bone, Bone Marrow

Publications for Dihydropyrimidine Dehydrogenase Deficiency

Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50) (show all 85)
# Title Authors Year
1
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency. ( 28929491 )
2018
2
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? ( 28275972 )
2017
3
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: The multiparametric approach is not convincing. ( 28923215 )
2017
4
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. ( 28395758 )
2017
5
Recommendation on testing for dihydropyrimidine dehydrogenase deficiency in the ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. ( 27701067 )
2016
6
Current insights into the impact of dihydropyrimidine dehydrogenase deficiency in patients receiving treatment with 5-fluorouracil. ( 27379945 )
2016
7
Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency. ( 26330092 )
2014
8
Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. ( 25565930 )
2014
9
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
10
An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. ( 24497719 )
2013
11
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. ( 24014927 )
2013
12
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. ( 23856855 )
2013
13
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
14
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMa88 gangliosidosis. ( 22353294 )
2012
15
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. ( 23335937 )
2012
16
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. ( 21420945 )
2011
17
A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. ( 21077799 )
2011
18
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. ( 20544545 )
2010
19
[Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]. ( 20087047 )
2010
20
[Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. ( 20146975 )
2010
21
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
22
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
23
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. ( 19081848 )
2008
24
[Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. ( 17582309 )
2007
25
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. ( 18846242 )
2007
26
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. ( 17064846 )
2007
27
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? ( 17065072 )
2006
28
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? ( 16512996 )
2006
29
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. ( 17000684 )
2006
30
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. ( 16537192 )
2006
31
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. ( 17241513 )
2006
32
Hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine. ( 17026792 )
2006
33
Dihydropyrimidine dehydrogenase deficiency in an Indian population. ( 16421754 )
2006
34
Unpredicted severe toxicity after 5-fluorouracil treatment due to dihydropyrimidine dehydrogenase deficiency. ( 16646564 )
2006
35
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. ( 16778115 )
2006
36
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. ( 16361556 )
2005
37
Screening for dihydropyrimidine dehydrogenase deficiency. ( 16033817 )
2005
38
Dihydropyrimidine dehydrogenase deficiency presenting at birth. ( 16151913 )
2005
39
Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature. ( 15700854 )
2004
40
Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. ( 15377401 )
2004
41
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? ( 14705962 )
2004
42
Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. ( 16163233 )
2004
43
Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test. ( 15102667 )
2004
44
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. ( 15303009 )
2004
45
[Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. ( 15083629 )
2004
46
5FU and oxaliplatin-containing chemotherapy in two dihydropyrimidine dehydrogenase-deficient patients. ( 15274386 )
2004
47
Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. ( 12542909 )
2003
48
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. ( 12829003 )
2003
49
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation. ( 12971429 )
2003
50
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria. ( 12668826 )
2003

Variations for Dihydropyrimidine Dehydrogenase Deficiency

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

71
# 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 all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 GRCh37 Chromosome 1, 97547947: 97547947
2 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 GRCh37 Chromosome 1, 97981343: 97981343
3 DPYD NM_000110.3(DPYD): c.496A> G (p.Met166Val) single nucleotide variant drug response rs2297595 GRCh37 Chromosome 1, 98165091: 98165091
4 DPYD NM_000110.3(DPYD): c.2043_2058del16 (p.Leu682Ilefs) deletion Likely pathogenic rs773499329 GRCh37 Chromosome 1, 97839117: 97839132
5 DPYD NM_000110.3(DPYD): c.61C> T (p.Arg21Ter) single nucleotide variant Likely pathogenic rs72549310 GRCh37 Chromosome 1, 98348909: 98348909
6 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
7 DPYD DPYD, 4-BP DEL, 296TCAT deletion Pathogenic
8 DPYD NM_000110.3(DPYD): c.85T> C (p.Cys29Arg) single nucleotide variant Pathogenic rs1801265 GRCh37 Chromosome 1, 98348885: 98348885
9 DPYD DPYD, 1-BP DEL, 1897C deletion Pathogenic
10 DPYD NM_000110.3(DPYD): c.2657G> A (p.Arg886His) single nucleotide variant Pathogenic rs1801267 GRCh37 Chromosome 1, 97564154: 97564154
11 DPYD NM_000110.3(DPYD): c.2589dupA (p.Pro864Thrfs) duplication Likely pathogenic rs1057517327 GRCh37 Chromosome 1, 97658658: 97658658
12 DPYD NM_000110.3(DPYD): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs1057517271 GRCh38 Chromosome 1, 97193137: 97193137
13 DPYD NM_000110.3(DPYD): c.2754delT (p.Pro919Leufs) deletion Likely pathogenic rs1057516894 GRCh38 Chromosome 1, 97098501: 97098501
14 DPYD NM_000110.3(DPYD): c.2748delG (p.Arg916Serfs) deletion Likely pathogenic rs1057517230 GRCh37 Chromosome 1, 97564063: 97564063
15 DPYD NM_000110.3(DPYD): c.2680A> T (p.Lys894Ter) single nucleotide variant Likely pathogenic rs1057516873 GRCh38 Chromosome 1, 97098575: 97098575
16 DPYD NM_000110.3(DPYD): c.2622+1G> A single nucleotide variant Likely pathogenic rs1057517095 GRCh37 Chromosome 1, 97658624: 97658624
17 DPYD NM_000110.3(DPYD): c.2335_2338delACCTinsGC (p.Thr779Alafs) indel Likely pathogenic rs1057516510 GRCh38 Chromosome 1, 97234956: 97234959
18 DPYD NM_000110.3(DPYD): c.2286_2287insA (p.Gly763Argfs) insertion Likely pathogenic rs1057516828 GRCh38 Chromosome 1, 97305271: 97305272
19 DPYD NM_000110.3(DPYD): c.2275C> T (p.Arg759Ter) single nucleotide variant Likely pathogenic rs759372918 GRCh38 Chromosome 1, 97305283: 97305283
20 DPYD NM_000110.3(DPYD): c.2058+1G> C single nucleotide variant Likely pathogenic rs769167857 GRCh38 Chromosome 1, 97373560: 97373560
21 DPYD NM_000110.3(DPYD): c.2039dupT (p.Met680Ilefs) duplication Likely pathogenic rs1057517396 GRCh38 Chromosome 1, 97373580: 97373580
22 DPYD NM_000110.3(DPYD): c.2003delA (p.Asn668Ilefs) deletion Likely pathogenic rs1057517055 GRCh38 Chromosome 1, 97373616: 97373616
23 DPYD NM_000110.3(DPYD): c.1970delC (p.Ser657Leufs) deletion Likely pathogenic rs1057516710 GRCh37 Chromosome 1, 97847953: 97847953
24 DPYD NM_000110.3(DPYD): c.1863G> A (p.Trp621Ter) single nucleotide variant Likely pathogenic rs1057516388 GRCh38 Chromosome 1, 97450101: 97450101
25 DPYD NM_000110.3(DPYD): c.1831G> T (p.Glu611Ter) single nucleotide variant Likely pathogenic rs1057516671 GRCh38 Chromosome 1, 97450133: 97450133
26 DPYD NM_000110.3(DPYD): c.1727delT (p.Phe576Serfs) deletion Likely pathogenic rs764584080 GRCh37 Chromosome 1, 97981295: 97981295
27 DPYD NM_000110.3(DPYD): c.1681C> T (p.Arg561Ter) single nucleotide variant Likely pathogenic rs1057516968 GRCh38 Chromosome 1, 97515785: 97515785
28 DPYD NM_000110.3(DPYD): c.1671delA (p.Ser558Glnfs) deletion Likely pathogenic rs1057517018 GRCh38 Chromosome 1, 97515795: 97515795
29 DPYD NM_000110.3(DPYD): c.1524+1G> A single nucleotide variant Likely pathogenic rs1057517126 GRCh37 Chromosome 1, 98015115: 98015115
30 DPYD NM_000110.3(DPYD): c.1518delC (p.Tyr506Terfs) deletion Likely pathogenic rs1057516615 GRCh38 Chromosome 1, 97549566: 97549566
31 DPYD NM_000110.3(DPYD): c.1379dupG (p.Leu461Serfs) duplication Likely pathogenic rs779948148 GRCh37 Chromosome 1, 98015261: 98015261
32 DPYD NM_000110.3(DPYD): c.1340-2A> G single nucleotide variant Likely pathogenic rs1057516713 GRCh38 Chromosome 1, 97549746: 97549746
33 DPYD NM_000110.3(DPYD): c.1339+1G> T single nucleotide variant Likely pathogenic rs1057516357 GRCh38 Chromosome 1, 97573759: 97573759
34 DPYD NM_000110.3(DPYD): c.1316delG (p.Gly439Valfs) deletion Likely pathogenic rs1057516761 GRCh37 Chromosome 1, 98039339: 98039339
35 DPYD NM_000110.3(DPYD): c.1311delC (p.Phe438Leufs) deletion Likely pathogenic rs1057517189 GRCh37 Chromosome 1, 98039344: 98039344
36 DPYD NM_000110.3(DPYD): c.1109_1110delTA (p.Ile370Lysfs) deletion Likely pathogenic rs749571474 GRCh38 Chromosome 1, 97593236: 97593237
37 DPYD NM_000110.3(DPYD): c.910delT (p.Tyr304Ilefs) deletion Likely pathogenic rs1057516711 GRCh37 Chromosome 1, 98060663: 98060663
38 DPYD NM_000110.3(DPYD): c.851-1G> C single nucleotide variant Likely pathogenic rs1057516696 GRCh37 Chromosome 1, 98060723: 98060723
39 DPYD NM_000110.3(DPYD): c.762+2T> C single nucleotide variant Likely pathogenic rs1057517065 GRCh38 Chromosome 1, 97691715: 97691715
40 DPYD NM_000110.3(DPYD): c.680+1G> A single nucleotide variant Likely pathogenic rs867460475 GRCh38 Chromosome 1, 97699350: 97699350
41 DPYD NM_000110.3(DPYD): c.661G> T (p.Glu221Ter) single nucleotide variant Likely pathogenic rs146170505 GRCh38 Chromosome 1, 97699370: 97699370
42 DPYD NM_000110.3(DPYD): c.523delT (p.Ser175Argfs) deletion Likely pathogenic rs1057516997 GRCh38 Chromosome 1, 97699508: 97699508
43 DPYD NM_000110.3(DPYD): c.483+1G> T single nucleotide variant Likely pathogenic rs1057516763 GRCh38 Chromosome 1, 97721509: 97721509
44 DPYD NM_000110.3(DPYD): c.322-1G> C single nucleotide variant Likely pathogenic rs1057516356 GRCh37 Chromosome 1, 98187228: 98187228
45 DPYD NM_000110.3(DPYD): c.232A> T (p.Arg78Ter) single nucleotide variant Likely pathogenic rs776692894 GRCh38 Chromosome 1, 97828115: 97828115
46 DPYD NM_000110.3(DPYD): c.220C> T (p.Arg74Ter) single nucleotide variant Likely pathogenic rs189768576 GRCh37 Chromosome 1, 98293683: 98293683
47 DPYD NM_000110.3(DPYD): c.208C> T (p.Arg70Ter) single nucleotide variant Likely pathogenic rs141597515 GRCh37 Chromosome 1, 98293695: 98293695
48 DPYD NM_000110.3(DPYD): c.150+2T> A single nucleotide variant Likely pathogenic rs1057516405 GRCh37 Chromosome 1, 98348818: 98348818
49 DPYD NM_000110.3(DPYD): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs768020954 GRCh38 Chromosome 1, 97920920: 97920920

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:

36
# 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
12.34 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
11.37 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 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 flavonoid glucuronidation GO:0052696 9.37 UGT1A1 UGT1A6
8 xenobiotic glucuronidation GO:0052697 9.32 UGT1A1 UGT1A6
9 thymine catabolic process GO:0006210 9.26 DPYD DPYS
10 uracil metabolic process GO:0019860 9.16 DPYS TYMS
11 uracil catabolic process GO:0006212 8.96 DPYD DPYS
12 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 9.33 UGT1A1 UGT1A6 UMPS
3 transferase activity, transferring hexosyl groups GO:0016758 9.26 UGT1A1 UGT1A6
4 glucuronosyltransferase activity GO:0015020 8.96 UGT1A1 UGT1A6
5 retinoic acid binding GO:0001972 8.62 UGT1A1 UGT1A6

Sources for Dihydropyrimidine Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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