MCID: DHY002
MIFTS: 56

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 54 12 50 24 25 56 71 29 42 14 69
Hereditary Thymine-Uraciluria 50 24 25 71
Familial Pyrimidinemia 50 24 56 71
Dpd Deficiency 50 24 25 71
5-Fluorouracil Toxicity 54 56 13
Dihydropyrimidinuria 25 71 69
Dihydrouracil Dehydrogenase Deficiency 12
Dihydropyrimidine Dehydrogenase 13
Familial Pyrimidinaemia 12
Familial Pyrimidemia 25
Thymine-Uracilurea 12
Dpyd Deficiency 71
Dpydd 71

Characteristics:

Orphanet epidemiological data:

56
dihydropyrimidine dehydrogenase deficiency
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
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 : 50 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 hereditary thymine-uraciluria, is related to dihydropyrimidinuria and dpyd-related altered drug metabolism, and has symptoms including failure to thrive, optic atrophy and nystagmus. An important gene associated with Dihydropyrimidine Dehydrogenase Deficiency is DPYD (Dihydropyrimidine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Fluorouracil and Heparin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and breast, and related phenotype is Decreased shRNA abundance (Z-score < -2).

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.

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 : 54
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)

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 : 72 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 all 33)
id Related Disease Score Top Affiliating Genes
1 dihydropyrimidinuria 11.1
2 dpyd-related altered drug metabolism 11.0
3 melanoma and neural system tumor syndrome 10.5 DPYD DPYS
4 cataract 17, multiple types 10.5 DPYD DPYS
5 overnutrition 10.3 ADSL DPYD
6 striated muscle rhabdoid tumor 10.3 DPYD TYMS
7 van maldergem syndrome 10.1 ADSL DPYS
8 zika virus congenital syndrome 10.1 DPYD TYMS
9 colorectal cancer 10.1
10 2-aminoadipic 2-oxoadipic aciduria 10.0 DPYD UMPS
11 hyperbilirubinemia, familial transient neonatal 10.0 UGT1A1 UGT1A6
12 punctate epithelial keratoconjunctivitis 10.0 UGT1A1 UGT1A6
13 renal artery disease 10.0 UGT1A1 UGT1A6
14 acute hydrops keratoconus 10.0 UGT1A1 UGT1A6
15 hyperammonemia due to carbonic anhydrase va deficiency 10.0 DPYS UMPS
16 crigler-najjar syndrome, type ii 10.0 UGT1A1 UGT1A6
17 c syndrome 9.9 DPYD UMPS
18 pyeloureteritis cystica 9.9 UGT1A1 UGT1A6
19 pyelitis 9.9 UGT1A1 UGT1A6
20 dermatomyositis 9.8 UGT1A1 UGT1A6
21 breast cancer 9.8
22 anaplastic large cell lymphoma 9.8
23 neutropenia 9.8
24 lymphoma 9.8
25 osteogenesis imperfecta 9.8
26 cicatricial ectropion 9.8
27 ectropion 9.8
28 epilepsy 9.8
29 rectum sarcoma 9.8 DPYD TYMS
30 thalassemia-beta, dominant inclusion-body 9.7 UGT1A1 UGT1A6
31 multifocal dystonia 9.7 DPYD DPYS UMPS
32 ovarian clear cell malignant adenofibroma 9.6 UGT1A1 UGT1A6
33 gastric cancer, somatic 9.6 DPYD TYMS UMPS

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:

54

Growth- Other:
failure to thrive
growth retardation

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

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
autism

Neurologic- Central Nervous System:
hypotonia
mental retardation
white matter abnormalities
cerebral atrophy
seizures
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 20)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 optic atrophy 32 HP:0000648
3 nystagmus 32 HP:0000639
4 cerebral atrophy 32 HP:0002059
5 seizures 32 HP:0001250
6 hypertonia 32 HP:0001276
7 lethargy 32 HP:0001254
8 microcephaly 32 HP:0000252
9 microphthalmia 32 HP:0000568
10 coloboma 32 HP:0000589
11 intellectual disability 32 HP:0001249
12 tetraplegia 32 HP:0002445
13 hyperactivity 32 HP:0000752
14 autism 32 HP:0000717
15 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
16 motor delay 32 HP:0001270
17 muscular hypotonia 32 HP:0001252
18 delayed speech and language development 32 HP:0000750
19 growth delay 32 HP:0001510
20 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
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1 51-21-8 3385
2
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
3
Capecitabine Approved, Investigational Phase 4,Phase 1 154361-50-9 60953
4 calcium heparin Phase 4,Phase 3
5 Antimetabolites Phase 4,Phase 1
6 Antimetabolites, Antineoplastic Phase 4,Phase 1
7 Immunosuppressive Agents Phase 4,Phase 1
8 Lithium carbonate Phase 3 554-13-2
9
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
10
Levoleucovorin Approved Phase 2 68538-85-2
11
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
14 Antidotes Phase 2
15 Antineoplastic Agents, Phytogenic Phase 2
16 Hematinics Phase 2
17 Micronutrients Phase 2
18 Protective Agents Phase 2
19 topoisomerase I inhibitors Phase 2
20 Topoisomerase Inhibitors Phase 2
21 Trace Elements Phase 2
22 Vitamin B Complex Phase 2
23 Vitamins Phase 2
24 Folate Nutraceutical Phase 2
25 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients Completed NCT01641458 Phase 4
2 Pre-therapeutic Identification of Dihydropyrimidine Dehydrogenase Gene (DPD) Deficiency for Predicting Toxicity to Fluoropyrimidines Unknown status NCT01547923 Phase 3
3 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
4 Pharmacogenomic and Pharmacokinetic Safety and Cost-saving Analysis in Patients Treated With Fluoropyrimidines Completed NCT00838370 Phase 1 Capecitabine, 5-fluorouracil
5 Predicting Response to Capecitabine in Women With Metastatic Breast Cancer Completed NCT00953537 capecitabine
6 Safety, Feasibility and Cost-effectiveness of Genotype-directed Individualized Dosing of Fluoropyrimidines Recruiting NCT02324452 Fluoropyrimidine (capecitabine or 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:

id Genetic test Affiliating Genes
1 Dihydropyrimidine Dehydrogenase Deficiency 29 24 DPYD

Anatomical Context for Dihydropyrimidine Dehydrogenase Deficiency

MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

39
Testes, Bone, Breast, Bone Marrow

Publications for Dihydropyrimidine Dehydrogenase Deficiency

Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50) (show all 83)
id Title Authors Year
1
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. ( 28395758 )
2017
2
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? ( 28275972 )
2017
3
Current insights into the impact of dihydropyrimidine dehydrogenase deficiency in patients receiving treatment with 5-fluorouracil. ( 27379945 )
2016
4
Recommendation on testing for dihydropyrimidine dehydrogenase deficiency in the ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. ( 27701067 )
2016
5
Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency. ( 26330092 )
2014
6
Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. ( 25565930 )
2014
7
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. ( 24014927 )
2013
8
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
9
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. ( 23856855 )
2013
10
An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. ( 24497719 )
2013
11
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMa88 gangliosidosis. ( 22353294 )
2012
12
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
13
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. ( 23335937 )
2012
14
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. ( 21420945 )
2011
15
A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. ( 21077799 )
2011
16
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. ( 20544545 )
2010
17
[Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. ( 20146975 )
2010
18
[Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]. ( 20087047 )
2010
19
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
20
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
21
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. ( 19081848 )
2008
22
[Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. ( 17582309 )
2007
23
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. ( 17064846 )
2007
24
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. ( 18846242 )
2007
25
Hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine. ( 17026792 )
2006
26
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. ( 17000684 )
2006
27
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. ( 16778115 )
2006
28
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? ( 16512996 )
2006
29
Dihydropyrimidine dehydrogenase deficiency in an Indian population. ( 16421754 )
2006
30
Unpredicted severe toxicity after 5-fluorouracil treatment due to dihydropyrimidine dehydrogenase deficiency. ( 16646564 )
2006
31
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. ( 17241513 )
2006
32
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. ( 16537192 )
2006
33
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? ( 17065072 )
2006
34
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. ( 16361556 )
2005
35
Screening for dihydropyrimidine dehydrogenase deficiency. ( 16033817 )
2005
36
Dihydropyrimidine dehydrogenase deficiency presenting at birth. ( 16151913 )
2005
37
Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. ( 15377401 )
2004
38
Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test. ( 15102667 )
2004
39
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. ( 15303009 )
2004
40
5FU and oxaliplatin-containing chemotherapy in two dihydropyrimidine dehydrogenase-deficient patients. ( 15274386 )
2004
41
Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. ( 16163233 )
2004
42
[Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. ( 15083629 )
2004
43
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? ( 14705962 )
2004
44
Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature. ( 15700854 )
2004
45
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation. ( 12971429 )
2003
46
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. ( 12829003 )
2003
47
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria. ( 12668826 )
2003
48
Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. ( 12542909 )
2003
49
The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil. ( 12140902 )
2002
50
Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. ( 11895907 )
2002

Variations for Dihydropyrimidine Dehydrogenase Deficiency

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

71
id 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)
id 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 Pathogenic rs1801265 GRCh37 Chromosome 1, 98348885: 98348885
4 DPYD DPYD, 1-BP DEL, 1897C deletion Pathogenic
5 DPYD NM_000110.3(DPYD): c.2657G> A (p.Arg886His) single nucleotide variant Pathogenic rs1801267 GRCh37 Chromosome 1, 97564154: 97564154
6 DPYD NM_000110.3(DPYD): c.2846A> T (p.Asp949Val) single nucleotide variant drug response rs67376798 GRCh37 Chromosome 1, 97547947: 97547947
7 DPYD NM_000110.3(DPYD): c.1679T> G (p.Ile560Ser) single nucleotide variant drug response rs55886062 GRCh37 Chromosome 1, 97981343: 97981343
8 DPYD NM_000110.3(DPYD): c.496A> G (p.Met166Val) single nucleotide variant drug response rs2297595 GRCh37 Chromosome 1, 98165091: 98165091
9 DPYD NM_000110.3(DPYD): c.2043_2058del16 (p.Leu682Ilefs) deletion Likely pathogenic rs773499329 GRCh38 Chromosome 1, 97373561: 97373576
10 DPYD NM_000110.3(DPYD): c.61C> T (p.Arg21Ter) single nucleotide variant Likely pathogenic rs72549310 GRCh37 Chromosome 1, 98348909: 98348909
11 DPYD NM_000110.3(DPYD): c.2335_2338delACCTinsGC (p.Thr779Alafs) indel Likely pathogenic rs1057516510 GRCh37 Chromosome 1, 97700512: 97700515
12 DPYD NM_000110.3(DPYD): c.2286_2287insA (p.Gly763Argfs) insertion Likely pathogenic rs1057516828 GRCh37 Chromosome 1, 97770827: 97770828
13 DPYD NM_000110.3(DPYD): c.2754delT (p.Pro919Leufs) deletion Likely pathogenic rs1057516894 GRCh37 Chromosome 1, 97564057: 97564057
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 GRCh37 Chromosome 1, 97564131: 97564131
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.2589dupA (p.Pro864Thrfs) duplication Likely pathogenic rs1057517327 GRCh37 Chromosome 1, 97658658: 97658658
18 DPYD NM_000110.3(DPYD): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs1057517271 GRCh38 Chromosome 1, 97193137: 97193137
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 GRCh37 Chromosome 1, 97839116: 97839116
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 GRCh37 Chromosome 1, 97981341: 97981341
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 GRCh37 Chromosome 1, 98015122: 98015122
31 DPYD NM_000110.3(DPYD): c.1379dupG (p.Leu461Serfs) duplication Likely pathogenic rs779948148 GRCh38 Chromosome 1, 97549705: 97549705
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 GRCh37 Chromosome 1, 98039315: 98039315
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 GRCh38 Chromosome 1, 97573788: 97573788
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 GRCh37 Chromosome 1, 98165064: 98165064
43 DPYD NM_000110.3(DPYD): c.483+1G> T single nucleotide variant Likely pathogenic rs1057516763 GRCh37 Chromosome 1, 98187065: 98187065
44 DPYD NM_000110.3(DPYD): c.322-1G> C single nucleotide variant Likely pathogenic rs1057516356 GRCh38 Chromosome 1, 97721672: 97721672
45 DPYD NM_000110.3(DPYD): c.232A> T (p.Arg78Ter) single nucleotide variant Likely pathogenic rs776692894 GRCh37 Chromosome 1, 98293671: 98293671
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 GRCh38 Chromosome 1, 97828139: 97828139
48 DPYD NM_000110.3(DPYD): c.150+2T> A single nucleotide variant Likely pathogenic rs1057516405 GRCh38 Chromosome 1, 97883262: 97883262
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
id 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 GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 ADSL DPYD DPYS TYMS UGT1A1 UGT1A6
2
Show member pathways
11.46 DPYD DPYS UGT1A1 UGT1A6 UMPS
3
Show member pathways
11.41 UGT1A1 UGT1A6
4
Show member pathways
11.3 UGT1A1 UGT1A6
5
Show member pathways
11.22 UGT1A1 UGT1A6
6
Show member pathways
11.2 UGT1A1 UGT1A6
7 11.11 UGT1A1 UGT1A6
8
Show member pathways
10.94 DPYD DPYS
9
Show member pathways
10.9 UGT1A1 UGT1A6
10 10.83 UGT1A1 UGT1A6
11
Show member pathways
10.41 DPYD DPYS
12 10.21 DPYD DPYS

GO Terms for Dihydropyrimidine Dehydrogenase Deficiency

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

(show all 12)
id 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 thymine catabolic process GO:0006210 9.26 DPYD DPYS
9 uracil metabolic process GO:0019860 9.16 DPYS TYMS
10 flavonoid glucuronidation GO:0052696 9.02 UGT1A1
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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