MCID: DHY011
MIFTS: 36

Dihydropyrimidinase Deficiency malady

Genetic diseases, Metabolic diseases, Rare diseases categories
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Summaries for Dihydropyrimidinase Deficiency

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Genetics Home Reference:21 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.

MalaCards based summary: Dihydropyrimidinase Deficiency, also known as dihydropyrimidinuria, is related to 5-fluorouracil toxicity and dihydropyrimidine dehydrogenase deficiency, and has symptoms including An important gene associated with Dihydropyrimidinase Deficiency is DPYS (dihydropyrimidinase), and among its related pathways are Purine metabolism and Glucuronidation. The compounds Dihydrothymine and 5,6-dihydrothymine have been mentioned in the context of this disorder. Affiliated tissues include testes.

Description from OMIM:46 222748

Aliases & Classifications for Dihydropyrimidinase Deficiency

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Sources:
20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet
See all sources

Dihydropyrimidinase Deficiency, Aliases & Descriptions:

Name: Dihydropyrimidinase Deficiency 20 22 21 48 62
Dihydropyrimidinuria 21 46 48
Dihydrouracil Amidohydrolase Deficiency 21 62
 
Dpys Deficiency 21 62
Dph Deficiency 21 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
dihydropyrimidinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


External Ids:

OMIM46 222748
ICD10 via Orphanet26 E79.8

Related Diseases for Dihydropyrimidinase Deficiency

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Diseases related to Dihydropyrimidinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
15-fluorouracil toxicity30.6DPYD
2dihydropyrimidine dehydrogenase deficiency29.9DPYS, DPYD

Symptoms for Dihydropyrimidinase Deficiency

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Symptoms by clinical synopsis from OMIM:

222748

Clinical features from OMIM:

222748

HPO human phenotypes related to Dihydropyrimidinase Deficiency:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 delayed speech and language development HP:0000750
3 intellectual disability HP:0001249
4 seizures HP:0001250
5 lethargy HP:0001254
6 somnolence HP:0001262
7 plagiocephaly HP:0001357
8 growth delay HP:0001510
9 talipes equinovarus HP:0001762
10 metabolic acidosis HP:0001942
11 abnormal facial shape HP:0001999
12 anal atresia HP:0002023
13 morphological abnormality of the pyramidal tract HP:0002062
14 abnormality of the cerebral white matter HP:0002500
15 reduced dihydropyrimidine dehydrogenase activity HP:0003654
16 phenotypic variability HP:0003812
17 extrapyramidal dyskinesia HP:0007308
18 feeding difficulties in infancy HP:0008872
19 short phalanx of finger HP:0009803

Drugs & Therapeutics for Dihydropyrimidinase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Dihydropyrimidinase Deficiency

Search NIH Clinical Center for Dihydropyrimidinase Deficiency

Genetic Tests for Dihydropyrimidinase Deficiency

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Genetic tests related to Dihydropyrimidinase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropyrimidinase Deficiency20 22 DPYS

Anatomical Context for Dihydropyrimidinase Deficiency

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MalaCards organs/tissues related to Dihydropyrimidinase Deficiency:

32
Testes

Animal Models for Dihydropyrimidinase Deficiency or affiliated genes

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Publications for Dihydropyrimidinase Deficiency

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Articles related to Dihydropyrimidinase Deficiency:

(show all 14)
idTitleAuthorsYear
1
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria. (23732435)
2013
2
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. (23430934)
2012
3
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. (20362666)
2010
4
Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency. (18600547)
2008
5
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. (17383919)
2007
6
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. (14555507)
2003
7
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. (12829003)
2003
8
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. (9718352)
1998
9
Dihydropyrimidinase deficiency (dihydropyrimidinuria)]. (9590033)
1998
10
Clinical and biochemical aspects of dihydropyrimidinase deficiency. (9598044)
1998
11
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? (9323563)
1997
12
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. (9266350)
1997
13
Dihydropyrimidinase deficiency, a progressive neurological disorder? (9208410)
1997
14
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. (7541877)
1993

Variations for Dihydropyrimidinase Deficiency

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

64
id Symbol AA change Variation ID SNP ID
1DPYSp.Thr68ArgVAR_002267
2DPYSp.Gln334ArgVAR_002268rs121964923
3DPYSp.Trp360ArgVAR_002269rs121964924
4DPYSp.Gly435ArgVAR_002270
5DPYSp.Arg490ThrVAR_002271

Clinvar genetic disease variations for Dihydropyrimidinase Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1DPYSNM_001385.2(DPYS): c.1001A> G (p.Gln334Arg)single nucleotide variantPathogenicrs121964923GRCh37Chr 8, 105440299: 105440299
2DPYSNM_001385.2(DPYS): c.1303G> A (p.Gly435Arg)single nucleotide variantPathogenicrs267606773GRCh37Chr 8, 105405152: 105405152
3DPYSNM_001385.2(DPYS): c.1078T> C (p.Trp360Arg)single nucleotide variantPathogenicrs121964924GRCh37Chr 8, 105440222: 105440222
4DPYSNM_001385.2(DPYS): c.1235G> T (p.Arg412Met)single nucleotide variantPathogenicrs267606774GRCh37Chr 8, 105436475: 105436475

Expression for genes affiliated with Dihydropyrimidinase Deficiency

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Expression patterns in normal tissues for genes affiliated with Dihydropyrimidinase Deficiency

Search GEO for disease gene expression data for Dihydropyrimidinase Deficiency.

Pathways for genes affiliated with Dihydropyrimidinase Deficiency

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Pathways related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
purine deoxyribonucleosides degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
9.1DPYS, DPYD
2
Show member pathways
9.1DPYS, DPYD
3
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
9.1DPYS, DPYD
4
Show member pathways
9.1DPYD, DPYS
5
Show member pathways
phenylethylamine degradation I37
9.1DPYS, DPYD
6
Show member pathways
thymine degradation37
pyrimidine deoxyribonucleosides degradation37
uracil degradation I (reductive)37
pyrimidine ribonucleosides degradation37
9.1DPYS, DPYD
79.1DPYS, DPYD
8
Show member pathways
9.1DPYS, DPYD

Compounds for genes affiliated with Dihydropyrimidinase Deficiency

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Sources:
24HMDB, 44Novoseek
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Compounds related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Dihydrothymine249.4DPYS, DPYD
25,6-dihydrothymine449.3DPYS, DPYD
3dihydrouracil44 2410.3DPYD, DPYS
4molybdenum44 2410.3DPYS, DPYD
5purine nucleoside449.2DPYS, DPYD
6thymine44 2410.2DPYD, DPYS
7pyrimidine44 2410.1DPYS, DPYD
8thymidine44 2410.1DPYS, DPYD
9purine44 2410.0DPYS, DPYD
105fluorouracil448.8DPYS, DPYD

GO Terms for genes affiliated with Dihydropyrimidinase Deficiency

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Biological processes related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1uracil catabolic processGO:0062129.3DPYS, DPYD
2thymine catabolic processGO:0062109.2DPYS, DPYD
3pyrimidine nucleobase catabolic processGO:0062089.2DPYS, DPYD
4pyrimidine nucleoside catabolic processGO:0461359.1DPYD, DPYS
5small molecule metabolic processGO:0442819.1DPYS, DPYD
6pyrimidine nucleobase metabolic processGO:0062069.0DPYS, DPYD
7nucleobase-containing small molecule metabolic processGO:0550868.8DPYS, DPYD

Products for genes affiliated with Dihydropyrimidinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dihydropyrimidinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet