DPYSD
MCID: DHY011
MIFTS: 45

Dihydropyrimidinase Deficiency (DPYSD)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dihydropyrimidinase Deficiency

MalaCards integrated aliases for Dihydropyrimidinase Deficiency:

Name: Dihydropyrimidinase Deficiency 57 12 20 43 58 72 36 29 6 44 15 39 70
Dihydropyrimidinuria 57 12 20 43 58 13 70
Dpys Deficiency 57 12 20 43 72
Dph Deficiency 57 12 20 43 72
Dpysd 57 12 72
Dihydropyrimidinuria Due to Dpys Deficiency 72
Dihydrouracil Amidohydrolase Deficiency 43

Characteristics:

Orphanet epidemiological data:

58
dihydropyrimidinuria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
approximately 12 patients have been reported (as of march 2010)
about half of individuals are asymptomatic and identified by newborn screening programs
high frequency in japan (2 in 20,000, 0.1%)
mutation carriers may show toxicity to 5-fluorouracil (5fu)


HPO:

31
dihydropyrimidinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Dihydropyrimidinase Deficiency

MedlinePlus Genetics : 43 Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing.The neurological abnormalities that occur most often in people with dihydropyrimidinase deficiency are intellectual disability, seizures, and weak muscle tone (hypotonia). An abnormally small head size (microcephaly) and autistic behaviors that affect communication and social interaction also occur in some individuals with this condition.Gastrointestinal problems that occur in dihydropyrimidinase deficiency include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and recurrent episodes of vomiting (cyclic vomiting). Affected individuals can also have deterioration (atrophy) of the small, finger-like projections (villi) that line the small intestine and provide a large surface area with which to absorb nutrients. This condition, called villous atrophy, can lead to difficulty absorbing nutrients from foods (malabsorption), resulting in a failure to grow and gain weight at the expected rate (failure to thrive).People with dihydropyrimidinase deficiency, including those who otherwise exhibit no symptoms, may be vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer. Common examples of these drugs are 5-fluorouracil and capecitabine. These drugs may not be broken down efficiently and can build up to toxic levels in the body (fluoropyrimidine toxicity), leading to drug reactions including gastrointestinal problems, blood abnormalities, and other signs and symptoms.

MalaCards based summary : Dihydropyrimidinase Deficiency, also known as dihydropyrimidinuria, is related to dihydropyrimidine dehydrogenase deficiency and purine-pyrimidine metabolic disorder. An important gene associated with Dihydropyrimidinase Deficiency is DPYS (Dihydropyrimidinase), and among its related pathways/superpathways are Pyrimidine metabolism and Drug metabolism - other enzymes. Affiliated tissues include small intestine and liver, and related phenotypes are abnormal pyramidal sign and intellectual disability

Disease Ontology : 12 A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has material basis in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 38874 Definition Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

OMIM® : 57 DPYS deficiency is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of mild intellectual disability and even asymptomatic individuals. Patients with a complete or partial deficiency have an increased risk of developing severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU) (summary by Nakajima et al., 2017). See also dihydropyrimidine dehydrogenase deficiency (274270), a similar disorder. (222748) (Updated 20-May-2021)

KEGG : 36 Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation.

UniProtKB/Swiss-Prot : 72 Dihydropyrimidinase deficiency: An autosomal recessive disorder of pyrimidine metabolism characterized by dihydropyrimidinuria. It is associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. Most patients are, however, asymptomatic.

Wikipedia : 73 Dihydropyrimidinase is an enzyme that in humans is encoded by the DPYS... more...

Related Diseases for Dihydropyrimidinase Deficiency

Graphical network of the top 20 diseases related to Dihydropyrimidinase Deficiency:



Diseases related to Dihydropyrimidinase Deficiency

Symptoms & Phenotypes for Dihydropyrimidinase Deficiency

Human phenotypes related to Dihydropyrimidinase Deficiency:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 abnormal pyramidal sign 31 occasional (7.5%) HP:0007256
2 intellectual disability 31 HP:0001249
3 delayed speech and language development 31 HP:0000750
4 abnormal facial shape 31 HP:0001999
5 feeding difficulties in infancy 31 HP:0008872
6 growth delay 31 HP:0001510
7 talipes equinovarus 31 HP:0001762
8 anal atresia 31 HP:0002023
9 lethargy 31 HP:0001254
10 plagiocephaly 31 HP:0001357
11 metabolic acidosis 31 HP:0001942
12 abnormality of the cerebral white matter 31 HP:0002500
13 short phalanx of finger 31 HP:0009803
14 excessive daytime somnolence 31 HP:0001262
15 extrapyramidal dyskinesia 31 HP:0007308
16 morphological abnormality of the pyramidal tract 31 HP:0002062
17 seizure 31 HP:0001250
18 reduced dihydropyrimidine dehydrogenase level 31 HP:0003654

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
growth retardation (1 patient)

Head And Neck Face:
dysmorphic facial features (1 patient)

Skeletal Hands:
hypoplastic phalanges (1 patient)

Neurologic Central Nervous System:
seizures (about 50% of patients)
mental retardation (3 patients)
speech delay (1 patient)
extrapyramidal dyskinesias (1 patient)
pyramidal signs (1 patient)
more
Head And Neck Head:
plagiocephaly (1 patient)

Abdomen Gastrointestinal:
low anal atresia (1 patient)

Skeletal Feet:
hypoplastic phalanges (1 patient)
clubfoot (1 patient)

Laboratory Abnormalities:
increased uracil and dihydrouracil in bodily fluids
increased thymine and dihydrothymine in bodily fluids

Clinical features from OMIM®:

222748 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Dihydropyrimidinase Deficiency according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.56 DPYS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.56 DPYS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.56 DPYS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.56 DPYS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.56 DPYS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.56 DPYS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.56 DPYS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.56 DPYS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.5 HS3ST3B1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.5 HS3ST3B1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.5 HS3ST3B1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.5 DPYS HS3ST3B1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 HS3ST3B1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.5 HS3ST3B1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.5 DPYS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.5 HS3ST3B1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.5 HS3ST3B1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.5 DPYS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.5 HS3ST3B1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 DPYS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.5 HS3ST3B1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.5 DPYS

Drugs & Therapeutics for Dihydropyrimidinase Deficiency

Search Clinical Trials , NIH Clinical Center for Dihydropyrimidinase Deficiency

Cochrane evidence based reviews: dihydropyrimidinase deficiency

Genetic Tests for Dihydropyrimidinase Deficiency

Genetic tests related to Dihydropyrimidinase Deficiency:

# Genetic test Affiliating Genes
1 Dihydropyrimidinase Deficiency 29 DPYS

Anatomical Context for Dihydropyrimidinase Deficiency

MalaCards organs/tissues related to Dihydropyrimidinase Deficiency:

40
Small Intestine, Liver

Publications for Dihydropyrimidinase Deficiency

Articles related to Dihydropyrimidinase Deficiency:

(show all 34)
# Title Authors PMID Year
1
A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis. 61 57 6
30384990 2019
2
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity. 57 6 61
29054612 2017
3
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. 57 6 61
17383919 2007
4
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. 6 61 57
9718352 1998
5
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. 61 6 57
9266350 1997
6
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria. 6 61
23732435 2013
7
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. 61 6
20362666 2010
8
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? 57 61
9323563 1997
9
Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. 61 57
1770794 1991
10
Functional characterization of 21 allelic variants of dihydropyrimidinase. 6
28642038 2017
11
[Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency]. 61
33179229 2020
12
Urine Pyrimidine Metabolite Determination by HPLC Tandem Mass Spectrometry. 61
26602135 2016
13
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. 61
23430934 2012
14
Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. 61
20797317 2010
15
Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency. 61
18600547 2008
16
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS. 61
16498612 2006
17
Pyrimidine degradation defects and severe 5-fluorouracil toxicity. 61
15571261 2004
18
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. 61
14555507 2003
19
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. 61
12829003 2003
20
Simple gas chromatographic-mass spectrometric procedure for diagnosing pyrimidine degradation defects for prevention of severe anticancer side effects. 61
11482736 2001
21
HPLC/ESI tandem-MS of liquid urine or urine soaked filter-paper strips for the detection of thymine-uraciluria and dihydropyrimidinuria. 61
11783519 2000
22
Screening for pyrimidine metabolism disorders using dried filter-paper urine samples: method development and a pilot study in Nagoya City, Japan. 61
10750737 2000
23
Radiochemical assay for determination of dihydropyrimidinase activity using reversed-phase high-performance liquid chromatography. 61
10410956 1999
24
Possible prediction of adverse reactions to fluorouracil by the measurement of urinary dihydrothymine and thymine. 61
9857238 1998
25
Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity. 61
9714435 1998
26
Clinical and biochemical aspects of dihydropyrimidinase deficiency. 61
9598044 1998
27
[Dihydropyrimidinase deficiency (dihydropyrimidinuria)]. 61
9590033 1998
28
Dihydropyrimidinase deficiency, a progressive neurological disorder? 61
9208410 1997
29
Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. 61
9816152 1996
30
Dihydropyrimidinuria without clinical symptoms. 61
8892031 1996
31
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. 61
8581129 1995
32
Dihydropyrimidinuria: the first case in Japan. 61
7660934 1994
33
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. 61
7541877 1993
34
Dihydropyrimidinuria. 61
1976182 1990

Variations for Dihydropyrimidinase Deficiency

ClinVar genetic disease variations for Dihydropyrimidinase Deficiency:

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPYS NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg) SNV Pathogenic 184 rs121964923 GRCh37: 8:105440299-105440299
GRCh38: 8:104428071-104428071
2 DPYS NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg) SNV Pathogenic 185 rs267606773 GRCh37: 8:105405152-105405152
GRCh38: 8:104392924-104392924
3 DPYS NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg) SNV Pathogenic 186 rs121964924 GRCh37: 8:105440222-105440222
GRCh38: 8:104427994-104427994
4 DPYS NM_001385.3(DPYS):c.1235G>T (p.Arg412Met) SNV Pathogenic 187 rs267606774 GRCh37: 8:105436475-105436475
GRCh38: 8:104424247-104424247
5 DPYS NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter) SNV Pathogenic 863103 GRCh37: 8:105405062-105405062
GRCh38: 8:104392834-104392834
6 DPYS NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys) SNV Pathogenic 1029334 GRCh37: 8:105393518-105393518
GRCh38: 8:104381290-104381290
7 DPYS NM_001385.3(DPYS):c.1254_1255del (p.His419fs) Deletion Pathogenic 1033424 GRCh37: 8:105405200-105405201
GRCh38: 8:104392972-104392973
8 DPYS NM_001385.3(DPYS):c.1506del (p.Arg503fs) Deletion Pathogenic 100132 rs79080341 GRCh37: 8:105393480-105393480
GRCh38: 8:104381252-104381252
9 DPYS NM_001385.3(DPYS):c.175G>T (p.Val59Phe) SNV Pathogenic 972740 GRCh37: 8:105478974-105478974
GRCh38: 8:104466746-104466746
10 DPYS NM_001385.3(DPYS):c.750G>A (p.Met250Ile) SNV Pathogenic 972724 GRCh37: 8:105456519-105456519
GRCh38: 8:104444291-104444291
11 DPYS NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg) SNV Likely pathogenic 372797 rs201258823 GRCh37: 8:105436573-105436573
GRCh38: 8:104424345-104424345
12 DPYS NM_001385.3(DPYS):c.905G>A (p.Arg302Gln) SNV Likely pathogenic 631543 rs200913682 GRCh37: 8:105441818-105441818
GRCh38: 8:104429590-104429590
13 DPYS NM_001385.3(DPYS):c.242A>G (p.Asp81Gly) SNV Uncertain significance 632514 rs951179754 GRCh37: 8:105478907-105478907
GRCh38: 8:104466679-104466679
14 DPYS NM_001385.3(DPYS):c.856A>T (p.Asn286Tyr) SNV Uncertain significance 361449 rs886062588 GRCh37: 8:105441867-105441867
GRCh38: 8:104429639-104429639
15 DPYS NM_001385.3(DPYS):c.*408A>G SNV Uncertain significance 361441 rs555961371 GRCh37: 8:105391678-105391678
GRCh38: 8:104379450-104379450
16 DPYS NM_001385.3(DPYS):c.*205G>A SNV Uncertain significance 361444 rs146388435 GRCh37: 8:105391881-105391881
GRCh38: 8:104379653-104379653
17 DPYS NM_001385.3(DPYS):c.*166_*169del Deletion Uncertain significance 361446 rs539754034 GRCh37: 8:105391917-105391920
GRCh38: 8:104379689-104379692
18 DPYS NM_001385.3(DPYS):c.817A>G (p.Ile273Val) SNV Uncertain significance 361450 rs201924473 GRCh37: 8:105441906-105441906
GRCh38: 8:104429678-104429678
19 DPYS NM_001385.3(DPYS):c.*70A>T SNV Uncertain significance 361447 rs781457040 GRCh37: 8:105392016-105392016
GRCh38: 8:104379788-104379788
20 DPYS NM_001385.3(DPYS):c.131G>T (p.Gly44Val) SNV Uncertain significance 361454 rs367711099 GRCh37: 8:105479018-105479018
GRCh38: 8:104466790-104466790
21 DPYS NM_001385.3(DPYS):c.603+5G>A SNV Uncertain significance 361453 rs377073619 GRCh37: 8:105459547-105459547
GRCh38: 8:104447319-104447319
22 DPYS NM_001385.3(DPYS):c.*200T>C SNV Uncertain significance 361445 rs577662244 GRCh37: 8:105391886-105391886
GRCh38: 8:104379658-104379658
23 DPYS NM_001385.3(DPYS):c.264+5C>T SNV Uncertain significance 100147 rs672601293 GRCh37: 8:105478880-105478880
GRCh38: 8:104466652-104466652
24 DPYS NM_001385.3(DPYS):c.*345A>T SNV Uncertain significance 908871 GRCh37: 8:105391741-105391741
GRCh38: 8:104379513-104379513
25 DPYS NM_001385.3(DPYS):c.381C>T (p.Cys127=) SNV Uncertain significance 908925 GRCh37: 8:105463516-105463516
GRCh38: 8:104451288-104451288
26 DPYS NM_001385.3(DPYS):c.342C>T (p.Phe114=) SNV Uncertain significance 908926 GRCh37: 8:105463555-105463555
GRCh38: 8:104451327-104451327
27 DPYS NM_001385.3(DPYS):c.264+10C>T SNV Uncertain significance 908927 GRCh37: 8:105478875-105478875
GRCh38: 8:104466647-104466647
28 DPYS NM_001385.3(DPYS):c.177C>G (p.Val59=) SNV Uncertain significance 908928 GRCh37: 8:105478972-105478972
GRCh38: 8:104466744-104466744
29 DPYS NM_001385.3(DPYS):c.169A>G (p.Lys57Glu) SNV Uncertain significance 908929 GRCh37: 8:105478980-105478980
GRCh38: 8:104466752-104466752
30 DPYS NM_001385.3(DPYS):c.1469G>A (p.Arg490His) SNV Uncertain significance 909729 GRCh37: 8:105393517-105393517
GRCh38: 8:104381289-104381289
31 DPYS NM_001385.3(DPYS):c.*14G>A SNV Uncertain significance 909728 GRCh37: 8:105393412-105393412
GRCh38: 8:104381184-104381184
32 DPYS NM_001385.3(DPYS):c.1433A>C (p.Gln478Pro) SNV Uncertain significance 909730 GRCh37: 8:105405022-105405022
GRCh38: 8:104392794-104392794
33 DPYS NM_001385.3(DPYS):c.111C>T (p.His37=) SNV Uncertain significance 909798 GRCh37: 8:105479038-105479038
GRCh38: 8:104466810-104466810
34 DPYS NM_001385.3(DPYS):c.-93A>T SNV Uncertain significance 909799 GRCh37: 8:105479241-105479241
GRCh38: 8:104467013-104467013
35 DPYS NM_001385.3(DPYS):c.1063C>T (p.Arg355Trp) SNV Uncertain significance 910648 GRCh37: 8:105440237-105440237
GRCh38: 8:104428009-104428009
36 DPYS NM_001385.3(DPYS):c.529G>A (p.Glu177Lys) SNV Uncertain significance 911874 GRCh37: 8:105459626-105459626
GRCh38: 8:104447398-104447398
37 DPYS NM_001385.3(DPYS):c.489C>T (p.Ala163=) SNV Uncertain significance 911875 GRCh37: 8:105459666-105459666
GRCh38: 8:104447438-104447438
38 DPYS NM_001385.3(DPYS):c.461G>C (p.Gly154Ala) SNV Uncertain significance 911876 GRCh37: 8:105459694-105459694
GRCh38: 8:104447466-104447466
39 DPYS NM_001385.3(DPYS):c.528C>T (p.Tyr176=) SNV Likely benign 788274 rs143825702 GRCh37: 8:105459627-105459627
GRCh38: 8:104447399-104447399
40 DPYS NM_001385.3(DPYS):c.793+10G>T SNV Likely benign 361451 rs200495434 GRCh37: 8:105456466-105456466
GRCh38: 8:104444238-104444238
41 DPYS NM_001385.3(DPYS):c.*351dup Duplication Likely benign 361442 rs143004875 GRCh37: 8:105391734-105391735
GRCh38: 8:104379506-104379507
42 DPYS NM_001385.3(DPYS):c.19C>G (p.Leu7Val) SNV Likely benign 100149 rs57732538 GRCh37: 8:105479130-105479130
GRCh38: 8:104466902-104466902
43 DPYS NM_001385.3(DPYS):c.1062T>C (p.Asp354=) SNV Likely benign 100138 rs35013010 GRCh37: 8:105440238-105440238
GRCh38: 8:104428010-104428010
44 DPYS NM_001385.3(DPYS):c.-104T>C SNV Likely benign 100152 rs541934140 GRCh37: 8:105479252-105479252
GRCh38: 8:104467024-104467024
45 DPYS NM_001385.3(DPYS):c.17G>A (p.Arg6Gln) SNV Benign 361455 rs199618701 GRCh37: 8:105479132-105479132
GRCh38: 8:104466904-104466904
46 DPYS NM_001385.3(DPYS):c.216C>T (p.Phe72=) SNV Benign 100148 rs2298840 GRCh37: 8:105478933-105478933
GRCh38: 8:104466705-104466705
47 DPYS NM_001385.3(DPYS):c.672A>G (p.Ala224=) SNV Benign 361452 rs7825427 GRCh37: 8:105456597-105456597
GRCh38: 8:104444369-104444369
48 DPYS NM_001385.3(DPYS):c.-1T>C SNV Benign 100151 rs2959023 GRCh37: 8:105479149-105479149
GRCh38: 8:104466921-104466921
49 DPYS NM_001385.3(DPYS):c.541C>T (p.Arg181Trp) SNV Benign 100142 rs36027551 GRCh37: 8:105459614-105459614
GRCh38: 8:104447386-104447386
50 DPYS NM_001385.3(DPYS):c.1092+9C>T SNV Benign 100137 rs138453168 GRCh37: 8:105440199-105440199
GRCh38: 8:104427971-104427971

UniProtKB/Swiss-Prot genetic disease variations for Dihydropyrimidinase Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 DPYS p.Thr68Arg VAR_002267
2 DPYS p.Gln334Arg VAR_002268 rs121964923
3 DPYS p.Trp360Arg VAR_002269 rs121964924
4 DPYS p.Gly435Arg VAR_002270 rs267606773
5 DPYS p.Arg490Thr VAR_002271

Expression for Dihydropyrimidinase Deficiency

Search GEO for disease gene expression data for Dihydropyrimidinase Deficiency.

Pathways for Dihydropyrimidinase Deficiency

Pathways related to Dihydropyrimidinase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Drug metabolism - other enzymes hsa00983

Pathways related to Dihydropyrimidinase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 UPB1 DPYS DPYD ADSL
2
Show member pathways
12.28 UPB1 DPYS DPYD
3
Show member pathways
11.31 UPB1 DPYS DPYD
4
Show member pathways
10.85 UPB1 DPYS DPYD
5 10.45 UPB1 DPYS DPYD
6
Show member pathways
10.05 UPB1 DPYS DPYD

GO Terms for Dihydropyrimidinase Deficiency

Biological processes related to Dihydropyrimidinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyrimidine nucleobase catabolic process GO:0006208 9.4 DPYS DPYD
2 thymine catabolic process GO:0006210 9.37 DPYS DPYD
3 pyrimidine nucleoside catabolic process GO:0046135 9.33 UPB1 DPYS DPYD
4 beta-alanine biosynthetic process GO:0019483 9.32 UPB1 DPYD
5 uracil catabolic process GO:0006212 9.26 DPYS DPYD
6 dUMP catabolic process GO:0046079 9.13 UPB1 DPYS DPYD
7 UMP catabolic process GO:0046050 8.8 UPB1 DPYS DPYD

Molecular functions related to Dihydropyrimidinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.13 PIGN DPYD ADSL
2 uracil binding GO:0002058 8.62 DPYS DPYD

Sources for Dihydropyrimidinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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