MCID: DHY002
MIFTS: 56

Dihydropyrimidine Dehydrogenase Deficiency malady

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

Aliases & Classifications for Dihydropyrimidine Dehydrogenase Deficiency

About this section
Sources:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 11diseasecard, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Dihydropyrimidine Dehydrogenase Deficiency:

Name: Dihydropyrimidine Dehydrogenase Deficiency 49 10 45 22 23 12 51 67 36 65
Hereditary Thymine-Uraciluria 45 22 23 67
Familial Pyrimidinemia 45 22 51 67
Dpd Deficiency 45 22 23 67
5-Fluorouracil Toxicity 49 11 51
Dihydropyrimidinuria 23 67 65
Dihydropyrimidine Dehydrogenase 11 24
 
Dihydrouracil Dehydrogenase Deficiency 10
Familial Pyrimidinaemia 10
Familial Pyrimidemia 23
Thymine-Uracilurea 10
Dpyd Deficiency 67
Dpydd 67

Characteristics:

HPO:

61
dihydropyrimidine dehydrogenase deficiency:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 274270
Disease Ontology10 DOID:14218
MeSH36 D054067
Orphanet51 1675, 240839
SNOMED-CT59 238016000, 77365006
ICD10 via Orphanet28 E79.8
MESH via Orphanet37 D054067
UMLS via Orphanet66 C1959620
UMLS65 C1959620, C3495551

Summaries for Dihydropyrimidine Dehydrogenase Deficiency

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NIH Rare Diseases:45 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 dpyd-related altered drug metabolism and meleda disease, and has symptoms including agenesis of corpus callosum, reduced dihydropyrimidine dehydrogenase activity and tetraplegia. An important gene associated with Dihydropyrimidine Dehydrogenase Deficiency is DPYD (Dihydropyrimidine Dehydrogenase), and among its related pathways are beta-Alanine metabolism (KEGG) and Pantothenate and CoA biosynthesis. Affiliated tissues include testes, liver and breast.

Disease Ontology:10 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.

UniProtKB/Swiss-Prot:67 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:23 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:49 Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive... (274270) more...

Wikipedia:68 Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is an autosomal recessivemetabolic disorder... more...

Related Diseases for Dihydropyrimidine Dehydrogenase Deficiency

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Graphical network of the top 20 diseases related to Dihydropyrimidine Dehydrogenase Deficiency:



Diseases related to dihydropyrimidine dehydrogenase deficiency

Symptoms for Dihydropyrimidine Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

274270

Clinical features from OMIM:

274270

HPO human phenotypes related to Dihydropyrimidine Dehydrogenase Deficiency:

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

UMLS symptoms related to Dihydropyrimidine Dehydrogenase Deficiency:


seizures, lethargy

Drugs & Therapeutics for Dihydropyrimidine Dehydrogenase Deficiency

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

(show all 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Heparinapproved, investigationalPhase 47199005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
2
FluorouracilapprovedPhase 4, Phase 3, Phase 2, Phase 1168451-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
3
Capecitabineapproved, investigationalPhase 4, Phase 11220154361-50-960953
Synonyms:
(1-(5-Deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-carbamic acid pentyl ester
154361-50-9
158798-73-3
5'-Deoxy-5-fluoro-N-((pentyloxy)carbonyl)cytidine
5'-deoxy-5-fluoro-N-[(pentyloxy)carbonyl]cytidine
AC1L1U83
AC1Q4KU8
Ambap154361-50-9
C110904
C12650
C15H22FN3O6
CAPE
CAPECITABINE
CHEBI:31348
CHEMBL1773
CID60953
Capecitabin
Capecitabina
Capecitabine
Capecitabine (JAN/USAN/INN)
Capecitabine [USAN]
Capecitabinum
Capecitibine
Capiibine
Carbamic acid, (1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-, pentyl ester
Caxeta
 
D01223
DB01101
FT-0082472
HSDB 7656
LS-59070
MolPort-005-938-254
N(4)-Pentyloxycarbonyl-5'-deoxy-5-fluorocytidine
Pentyl 1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinecarbamate
Pentyl [1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-2-oxo-1,2-dihydropyrimidin-4-yl]carbamate
R-340
R340
RG-340
Ro 09-1978
Ro 09-1978/000
Ro-09-1978
Ro-09-1978/000
S1156_Selleck
UNII-6804DJ8Z9U
Xabine
Xeloda
Xeloda (TN)
Xeloda, Captabin, Capecitabine
ZINC03806413
capecitabina
capecitabine
capecitabinum
pentyl N-[1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-methyloxolan-2-yl]-5-fluoro-2-oxopyrimidin-4-yl]carbamate
4AntimetabolitesPhase 4, Phase 19454
5Antimetabolites, AntineoplasticPhase 4, Phase 15770
6calcium heparinPhase 4719
7Lithium CarbonatePhase 3211
8
Oxaliplatinapproved, investigationalPhase 2132261825-94-35310940, 9887054, 6857599, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
 
Oxalatoplatin
Oxalatoplatinum
Oxaliplatin
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
9
Irinotecanapproved, investigationalPhase 2104497682-44-5, 100286-90-660838
Synonyms:
(+)-Irinotecan
(4S)-4,11-DIETHYL-4-HYDROXY-3,14-DIOXO-3,4,12,14-TETRAHYDRO-1H-PYRANO[3',4':6,7]INDOLIZINO[1,2-B]QUINOLIN-9-YL 1,4'-BIPIPERIDINE-1'-CARBOXYLATE
(4S)-4,11-Diethyl-4-hydroxy-3,14-dioxo-4,12-dihydro-1H-pyrano[3,4-f]quinolino[2,3-a]indolizin-9-yl 4-piperidylpiperidinecarboxylate
1u65
97682-44-5
AC-7469
AC1L1U0Z
AC1Q6PGI
BRD-K08547377-003-02-4
BSPBio_002346
Bio-0054
Biotecan
Biotecan (TN)
C16641
C33H38N4O6
CHEBI:105985
CHEMBL481
CID60838
CP0
Campothecin-11
Campto
Camptosar
 
Camptosar, Campto, CPT-11, Irinotecan
Camptothecin-11
D08086
DB00762
FT-0083650
HSDB 7607
IRINOTECAN HYDROCHLORIDE Trihydrate
IRINOTECAN, CPT-11
Irinotecan
Irinotecan (INN)
Irinotecan Hcl
Irinotecan Hydrochloride
Irinotecan Hydrochloride Trihydrate
Irinotecan [INN:BAN]
Irinotecan hydrochloride
Irinotecanum
Irinotecanum [INN-Latin]
LS-44589
NCI60_005051
NSC728073
S1198_Selleck
TL8006026
UNII-7673326042
irinotecan
10
Folic Acidapproved, nutraceuticalPhase 2292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
11topoisomerase I inhibitorsPhase 21131
12Topoisomerase InhibitorsPhase 24081
13Vitamin B ComplexPhase 22847
14VitaminsPhase 23857
15Trace ElementsPhase 23900
16Protective AgentsPhase 25651
17Antineoplastic Agents, PhytogenicPhase 24294
18LevoleucovorinPhase 2676
19HematinicsPhase 21121
20MicronutrientsPhase 23901
21Folinic AcidNutraceuticalPhase 22604
22Vitamin B9NutraceuticalPhase 22924
23FolateNutraceuticalPhase 22924
24Immunosuppressive AgentsPhase 110422
25Immunologic FactorsPhase 118483

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacology-driven Dosing of Fluoropyrimidines in Cancer PatientsCompletedNCT01641458Phase 4
2Pre-therapeutic Identification of Dihydropyrimidine Dehydrogenase Gene (DPD) Deficiency for Predicting Toxicity to FluoropyrimidinesRecruitingNCT01547923Phase 3
3Efficacy and Tolerance Evaluation in FOLFIRINOX Dose Adjusted in Elderly Patients With a Metastatic Pancreatic CancerRecruitingNCT02143219Phase 2
4Pharmacogenomic and Pharmacokinetic Safety and Cost-saving Analysis in Patients Treated With FluoropyrimidinesCompletedNCT00838370Phase 1
5Predicting Response to Capecitabine in Women With Metastatic Breast CancerCompletedNCT00953537
6Safety, Feasibility and Cost-effectiveness of Genotype-directed Individualized Dosing of FluoropyrimidinesRecruitingNCT02324452

Search NIH Clinical Center for Dihydropyrimidine Dehydrogenase Deficiency


Cochrane evidence based reviews: dihydropyrimidine dehydrogenase deficiency

Genetic Tests for Dihydropyrimidine Dehydrogenase Deficiency

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Genetic tests related to Dihydropyrimidine Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropyrimidine Dehydrogenase Deficiency22 DPYD

Anatomical Context for Dihydropyrimidine Dehydrogenase Deficiency

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MalaCards organs/tissues related to Dihydropyrimidine Dehydrogenase Deficiency:

33
Testes, Liver, Breast, Bone, Endothelial, Prostate, Neutrophil

Animal Models for Dihydropyrimidine Dehydrogenase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Dihydropyrimidine Dehydrogenase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Dihydropyrimidine Dehydrogenase Deficiency

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Articles related to Dihydropyrimidine Dehydrogenase Deficiency:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency. (26330092)
2014
2
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
3
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. (23856855)
2013
4
Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test. (24014927)
2013
5
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
6
Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]. (20087047)
2010
7
Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. (20146975)
2010
8
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
9
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. (19081848)
2008
10
Detection of dihydropyrimidine dehydrogenase deficiency before treatment by fluoropyrimidines]. (17582309)
2007
11
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) IN GI MALIGNANCIES: EXPERIENCE OF 4-YEARS. (18846242)
2007
12
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? (17065072)
2006
13
Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. (17000684)
2006
14
Hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine. (17026792)
2006
15
Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. (17241513)
2006
16
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency? (16512996)
2006
17
Unpredicted severe toxicity after 5-fluorouracil treatment due to dihydropyrimidine dehydrogenase deficiency. (16646564)
2006
18
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. (16361556)
2005
19
Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test. (15102667)
2004
20
Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. (15377401)
2004
21
Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature. (15700854)
2004
22
Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]. (15083629)
2004
23
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation. (12971429)
2003
24
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria. (12668826)
2003
25
Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. (12542909)
2003
26
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. (12829003)
2003
27
A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency. (12069415)
2002
28
The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil. (12140902)
2002
29
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
30
Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency. (10620566)
2000
31
Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity. (11783494)
2000
32
Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency. (10764168)
2000
33
Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation. (10234617)
1999
34
Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil. (10473079)
1999
35
Prolonged severe 5-fluorouracil-associated neurotoxicity in a patient with dihydropyrimidine dehydrogenase deficiency. (10099659)
1999
36
Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation. (9686373)
1998
37
Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli. (9598088)
1998
38
Dihydropyrimidine dehydrogenase deficiency: a potential etiology for 5-fluorouracil-induced neurotoxicity. (9250572)
1997
39
Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. (8698850)
1996
40
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. (8892022)
1996
41
Severe 5-fluorouracil toxicity possibly secondary to dihydropyrimidine dehydrogenase deficiency in a breast cancer patient with osteogenesis imperfecta. (8664058)
1996
42
Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. (7491709)
1995
43
Severe fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. (8411234)
1993
44
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn. (1781388)
1991
45
The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency. (2029924)
1991
46
A new case of dihydropyrimidine dehydrogenase deficiency. (2109146)
1990
47
A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil. (2624179)
1989
48
Dihydropyrimidine dehydrogenase deficiency. Neurological aspects. (3572451)
1987
49
Dihydropyrimidine dehydrogenase deficiency--a further case. (3930855)
1985
50
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. (6488556)
1984

Variations for Dihydropyrimidine Dehydrogenase Deficiency

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

67
id Symbol AA change Variation ID SNP ID
1DPYDp.Cys29ArgVAR_005173rs1801265
2DPYDp.Arg235TrpVAR_005174rs1801266
3DPYDp.Arg886HisVAR_005177rs1801267

Clinvar genetic disease variations for Dihydropyrimidine Dehydrogenase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DPYDNM_000110.3(DPYD): c.61C> T (p.Arg21Ter)single nucleotide variantLikely pathogenicrs72549310GRCh37Chr 1, 98348909: 98348909
2DPYDNM_000110.3(DPYD): c.2043_2058del16 (p.Leu682Ilefs)deletionLikely pathogenicrs773499329GRCh37Chr 1, 97839117: 97839132
3DPYDNM_000110.3(DPYD): c.1905+1G> Asingle nucleotide variantPathogenicrs3918290GRCh37Chr 1, 97915614: 97915614
4DPYDDPYD, 4-BP DEL, 296TCATdeletionPathogenic
5DPYDNM_000110.3(DPYD): c.85T> C (p.Cys29Arg)single nucleotide variantPathogenicrs1801265GRCh37Chr 1, 98348885: 98348885
6DPYDDPYD, 1-BP DEL, 1897CdeletionPathogenic
7NM_000110.3(DPYD): c.2657G> A (p.Arg886His)single nucleotide variantPathogenicrs1801267GRCh37Chr 1, 97564154: 97564154

Expression for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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Search GEO for disease gene expression data for Dihydropyrimidine Dehydrogenase Deficiency.

Pathways for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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Pathways related to Dihydropyrimidine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8DPYD, DPYS
29.8DPYD, DPYS
3
Show member pathways
9.8DPYD, DPYS
4
Show member pathways
9.3DPYD, DPYS, TYMS
5
Show member pathways
9.0UGT1A1, UGT1A6
6
Show member pathways
9.0UGT1A1, UGT1A6
7
Show member pathways
9.0UGT1A1, UGT1A6
8
Show member pathways
9.0UGT1A1, UGT1A6
9
Show member pathways
9.0UGT1A1, UGT1A6
10
Show member pathways
9.0UGT1A1, UGT1A6
11
Show member pathways
8.8ADSL, DPYD, DPYS, TYMS
12
Show member pathways
8.8ADSL, DPYD, DPYS, TYMS
13
Show member pathways
7.8DPYD, DPYS, TPMT, UGT1A1, UGT1A6
14
Show member pathways
6.9ADSL, DPYD, DPYS, TPMT, TYMS, UGT1A1

GO Terms for genes affiliated with Dihydropyrimidine Dehydrogenase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1pyrimidine nucleobase catabolic processGO:000620810.2DPYD, DPYS
2cartilage developmentGO:00512169.9COL11A1, TYMS
3negative regulation of glucuronosyltransferase activityGO:19042249.4UGT1A1, UGT1A6
4xenobiotic metabolic processGO:00068059.2UGT1A1, UGT1A6
5metabolic processGO:00081528.1ADSL, DPYS, UGT1A1, UGT1A6

Sources for Dihydropyrimidine Dehydrogenase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet