DPYDD
MCID: DHY002
MIFTS: 55

Dihydropyrimidine Dehydrogenase Deficiency (DPYDD) malady

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

Aliases & Classifications for Dihydropyrimidine Dehydrogenase Deficiency

Aliases & Descriptions for Dihydropyrimidine Dehydrogenase Deficiency:

Name: Dihydropyrimidine Dehydrogenase Deficiency 54 12 50 24 25 56 66 29 42 14 69
Hereditary Thymine-Uraciluria 50 24 25 66
Familial Pyrimidinemia 50 24 56 66
Dpd Deficiency 50 24 25 66
5-Fluorouracil Toxicity 54 56 13
Dihydropyrimidinuria 25 66 69
Dihydrouracil Dehydrogenase Deficiency 12
Dihydropyrimidine Dehydrogenase 13
Familial Pyrimidinaemia 12
Familial Pyrimidemia 25
Thymine-Uracilurea 12
Dpyd Deficiency 66
Dpydd 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:



External Ids:

OMIM 54 274270
Disease Ontology 12 DOID:14218
MeSH 42 D054067
NCIt 47 C3964 C84672
SNOMED-CT 64 238016000 77365006
ICD10 via Orphanet 34 E79.8
MESH via Orphanet 43 D054067
UMLS via Orphanet 70 C1959620

Summaries for Dihydropyrimidine Dehydrogenase Deficiency

NIH Rare Diseases : 50 dihydropyrimidine dehydrogenase (dpd) deficiency is a condition in which the body cannot break down the nucleotides thymine 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 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 Metabolism and Purine metabolism (KEGG). The drugs Fluorouracil and Capecitabine have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and bone marrow, and related phenotype is 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 : 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... (274270) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 34)
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 10.2 DPYD DPYS
4 cataract 3, multiple types 10.2 DPYD DPYS
5 posterior foramen magnum meningioma 10.1 ADSL DPYD
6 small intestine carcinoid neuroendocrine tumor 10.1 DPYD TYMS
7 colorectal cancer 10.1
8 pharc syndrome 10.1 DPYD TYMS
9 uv-sensitive syndrome 10.1 ADSL DPYS
10 rectum sarcoma 10.0 DPYD TYMS
11 hyperbilirubinemia, familial transient neonatal 10.0 UGT1A1 UGT1A6
12 charcot-marie-tooth disease, axonal, type 2q 10.0 DPYD UMPS
13 punctate epithelial keratoconjunctivitis 10.0 UGT1A1 UGT1A6
14 renal artery disease 10.0 UGT1A1 UGT1A6
15 meier-gorlin syndrome 4 10.0 DPYS UMPS
16 cerebral artery occlusion 10.0 UGT1A1 UGT1A6
17 c syndrome 10.0 DPYD UMPS
18 crigler-najjar syndrome, type ii 10.0 UGT1A1 UGT1A6
19 pyeloureteritis cystica 10.0 UGT1A1 UGT1A6
20 pyelitis 9.9 UGT1A1 UGT1A6
21 borderline leprosy 9.9 UGT1A1 UGT1A6
22 acute dacryoadenitis 9.9 UGT1A1 UGT1A6
23 breast cancer 9.8
24 anaplastic large cell lymphoma 9.8
25 gastric cancer 9.8
26 neutropenia 9.8
27 lymphoma 9.8
28 osteogenesis imperfecta 9.8
29 cicatricial ectropion 9.8
30 ectropion 9.8
31 epilepsy 9.8
32 fetal hemoglobin quantitative trait locus 1 9.8 UGT1A1 UGT1A6
33 multifocal dystonia 9.7 ADSL DPYD DPYS UMPS
34 neutropenia, severe congenital 2, autosomal dominant 8.9 ADSL COL11A1 DPYD DPYS TYMS UGT1A1

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 by clinical synopsis from OMIM:

274270

Clinical features from OMIM:

274270

Human phenotypes related to Dihydropyrimidine Dehydrogenase Deficiency:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 lethargy 32 HP:0001254
3 agenesis of corpus callosum 32 HP:0001274
4 nystagmus 32 HP:0000639
5 intellectual disability 32 HP:0001249
6 muscular hypotonia 32 HP:0001252
7 failure to thrive 32 HP:0001508
8 tetraplegia 32 HP:0002445
9 delayed speech and language development 32 HP:0000750
10 microcephaly 32 HP:0000252
11 optic atrophy 32 HP:0000648
12 hypertonia 32 HP:0001276
13 autism 32 HP:0000717
14 growth delay 32 HP:0001510
15 microphthalmia 32 HP:0000568
16 motor delay 32 HP:0001270
17 hyperactivity 32 HP:0000752
18 cerebral atrophy 32 HP:0002059
19 coloboma 32 HP:0000589
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
Capecitabine Approved, Investigational Phase 4,Phase 1 154361-50-9 60953
3
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
4 Antimetabolites Phase 4,Phase 1
5 Antimetabolites, Antineoplastic Phase 4,Phase 1
6 calcium heparin Phase 4
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 6857599, 9887054 43805
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
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
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
4 Pharmacogenomic and Pharmacokinetic Safety and Cost-saving Analysis in Patients Treated With Fluoropyrimidines Completed NCT00838370 Phase 1
5 Predicting Response to Capecitabine in Women With Metastatic Breast Cancer Completed NCT00953537
6 Safety, Feasibility and Cost-effectiveness of Genotype-directed Individualized Dosing of Fluoropyrimidines Recruiting NCT02324452

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, Bone Marrow, Breast

Publications for Dihydropyrimidine Dehydrogenase Deficiency

Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50) (show all 83)
id Title Authors Year
1
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? ( 28275972 )
2017
2
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. ( 28395758 )
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
Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. ( 25565930 )
2014
6
Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency. ( 26330092 )
2014
7
An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. ( 24497719 )
2013
8
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. ( 24014927 )
2013
9
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. ( 23856855 )
2013
10
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
11
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
12
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMa88 gangliosidosis. ( 22353294 )
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 bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. ( 21077799 )
2011
15
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. ( 21420945 )
2011
16
[Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. ( 20146975 )
2010
17
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. ( 20544545 )
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
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. ( 18846242 )
2007
23
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. ( 17064846 )
2007
24
[Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. ( 17582309 )
2007
25
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? ( 17065072 )
2006
26
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. ( 17000684 )
2006
27
Dihydropyrimidine dehydrogenase deficiency in an Indian population. ( 16421754 )
2006
28
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. ( 17241513 )
2006
29
Hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine. ( 17026792 )
2006
30
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question. ( 16537192 )
2006
31
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? ( 16512996 )
2006
32
Unpredicted severe toxicity after 5-fluorouracil treatment due to dihydropyrimidine dehydrogenase deficiency. ( 16646564 )
2006
33
Methylation of the DPYD promoter and dihydropyrimidine dehydrogenase deficiency. ( 16778115 )
2006
34
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. ( 16361556 )
2005
35
Dihydropyrimidine dehydrogenase deficiency presenting at birth. ( 16151913 )
2005
36
Screening for dihydropyrimidine dehydrogenase deficiency. ( 16033817 )
2005
37
Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. ( 15377401 )
2004
38
Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. ( 16163233 )
2004
39
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? ( 14705962 )
2004
40
5FU and oxaliplatin-containing chemotherapy in two dihydropyrimidine dehydrogenase-deficient patients. ( 15274386 )
2004
41
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. ( 15303009 )
2004
42
Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature. ( 15700854 )
2004
43
[Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. ( 15083629 )
2004
44
Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test. ( 15102667 )
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
Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. ( 12209976 )
2002
50
The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil. ( 12140902 )
2002

Variations for Dihydropyrimidine Dehydrogenase Deficiency

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

66
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 NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
2 DPYD DPYD, 4-BP DEL, 296TCAT deletion Pathogenic
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 GRCh38 Chromosome 1, 97883353: 97883353
11 DPYD NM_000110.3(DPYD): c.2622+1G> A single nucleotide variant Likely pathogenic rs1057517095 GRCh38 Chromosome 1, 97193068: 97193068
12 DPYD NM_000110.3(DPYD): c.2589dupA (p.Pro864Thrfs) duplication Likely pathogenic rs1057517327 GRCh37 Chromosome 1, 97658658: 97658658
13 DPYD NM_000110.3(DPYD): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs1057517271 GRCh38 Chromosome 1, 97193137: 97193137
14 DPYD NM_000110.3(DPYD): c.2754delT (p.Pro919Leufs) deletion Likely pathogenic rs1057516894 GRCh38 Chromosome 1, 97098501: 97098501
15 DPYD NM_000110.3(DPYD): c.2748delG (p.Arg916Serfs) deletion Likely pathogenic rs1057517230 GRCh37 Chromosome 1, 97564063: 97564063
16 DPYD NM_000110.3(DPYD): c.2680A> T (p.Lys894Ter) single nucleotide variant Likely pathogenic rs1057516873 GRCh38 Chromosome 1, 97098575: 97098575
17 DPYD NM_000110.3(DPYD): c.2335_2338delACCTinsGC (p.Thr779Alafs) indel Likely pathogenic rs1057516510 GRCh37 Chromosome 1, 97700512: 97700515
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 GRCh37 Chromosome 1, 97770839: 97770839
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 GRCh37 Chromosome 1, 97915689: 97915689
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 GRCh37 Chromosome 1, 97981351: 97981351
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 GRCh37 Chromosome 1, 98164906: 98164906
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 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 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 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
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 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 ADSL DPYD DPYS TYMS UGT1A1 UGT1A6
2
Show member pathways
12.13 ADSL DPYD DPYS TYMS UMPS
3
Show member pathways
11.79 DPYD DPYS UGT1A1 UGT1A6 UMPS
4
Show member pathways
11.69 DPYD DPYS TYMS UMPS
5
Show member pathways
11.45 UGT1A1 UGT1A6
6
Show member pathways
11.36 ADSL DPYD DPYS TYMS UMPS
7
Show member pathways
11.34 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
Show member pathways
10.62 DPYD DPYS
15 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)
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 pyrimidine nucleoside biosynthetic process GO:0046134 9.32 TYMS UMPS
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:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.56 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 9.32 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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