MCID: DHY005
MIFTS: 37

Dihydropyrimidinuria malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Dihydropyrimidinuria

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Dihydropyrimidinuria, Aliases & Descriptions:

Name: Dihydropyrimidinuria 45 10 41 21 47 60
Dihydropyrimidinase Deficiency 45 41 21 47 60
Dihydropyrimidinase 10 20 22
 
Dpys Deficiency 41 21
Dph Deficiency 41 21
Dihydrouracil Amidohydrolase Deficiency 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
dihydropyrimidinuria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM45 222748
Orphanet47 38874
ICD10 via Orphanet26 E79.8

Summaries for Dihydropyrimidinuria

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OMIM:45 DPYS deficiency is an autosomal recessive inborn error of pyrimidine metabolism. Less than a dozen affected individuals... (222748) more...

MalaCards based summary: Dihydropyrimidinuria, also known as dihydropyrimidinase deficiency, is related to dihydropyrimidine dehydrogenase deficiency and schizophrenia, and has symptoms including autosomal recessive inheritance, delayed speech and language development and intellectual disability. An important gene associated with Dihydropyrimidinuria 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.

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.

Related Diseases for Dihydropyrimidinuria

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Diseases related to Dihydropyrimidinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1dihydropyrimidine dehydrogenase deficiency30.7DPYD
2schizophrenia10.4
3wilms tumor10.2
4down syndrome10.2
5colorectal cancer10.0
6breast cancer10.0
7facioscapulohumeral muscular dystrophy 110.0
8lung cancer10.0
9obesity10.0
10neuroblastoma10.0
11bipolar disorder10.0
12colorectal adenoma10.0
13emery-dreifuss muscular dystrophy, dominant type10.0
14respiratory syncytial virus infectious disease10.0
15cerebritis10.0
16ischemia10.0

Graphical network of diseases related to Dihydropyrimidinuria:



Diseases related to dihydropyrimidinuria

Symptoms for Dihydropyrimidinuria

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Symptoms by clinical synopsis from OMIM:

222748

Clinical features from OMIM:

222748

HPO human phenotypes related to Dihydropyrimidinuria:

(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 Dihydropyrimidinuria

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Drug clinical trials:

Search ClinicalTrials for Dihydropyrimidinuria

Search NIH Clinical Center for Dihydropyrimidinuria

Genetic Tests for Dihydropyrimidinuria

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Genetic tests related to Dihydropyrimidinuria:

id Genetic test Affiliating Genes
1 Dihydropyrimidinase Deficiency20 22 DPYS

Anatomical Context for Dihydropyrimidinuria

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MalaCards organs/tissues related to Dihydropyrimidinuria:

31
Testes

Animal Models for Dihydropyrimidinuria or affiliated genes

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Publications for Dihydropyrimidinuria

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Articles related to Dihydropyrimidinuria:

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 (dihydropyrimidinuria)]. (9590033)
1998
4
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. (9266350)
1997
5
Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. (9816152)
1996

Variations for Dihydropyrimidinuria

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UniProtKB/Swiss-Prot genetic disease variations for Dihydropyrimidinuria:

62
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 Dihydropyrimidinuria:

6
id Gene Variation 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 Dihydropyrimidinuria

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Search GEO for disease gene expression data for Dihydropyrimidinuria.

Pathways for genes affiliated with Dihydropyrimidinuria

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Pathways related to Dihydropyrimidinuria according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.1DPYS, DPYD
2
Show member pathways
9.1DPYS, DPYD
3
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
9.1DPYS, DPYD
4
Show member pathways
9.1DPYD, DPYS
5
Show member pathways
phenylethylamine degradation I36
9.1DPYS, DPYD
6
Show member pathways
thymine degradation36
pyrimidine deoxyribonucleosides degradation36
uracil degradation I (reductive)36
pyrimidine ribonucleosides degradation36
9.1DPYS, DPYD
79.1DPYS, DPYD
8
Show member pathways
9.1DPYS, DPYD

Compounds for genes affiliated with Dihydropyrimidinuria

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Sources:
24HMDB, 43Novoseek
See all sources

Compounds related to Dihydropyrimidinuria according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1Dihydrothymine249.4DPYS, DPYD
25,6-dihydrothymine439.3DPYS, DPYD
3dihydrouracil43 2410.3DPYD, DPYS
4molybdenum43 2410.3DPYS, DPYD
5purine nucleoside439.2DPYS, DPYD
6thymine43 2410.2DPYD, DPYS
7pyrimidine43 2410.1DPYS, DPYD
8thymidine43 2410.1DPYS, DPYD
9purine43 2410.0DPYS, DPYD
105fluorouracil438.8DPYS, DPYD

GO Terms for genes affiliated with Dihydropyrimidinuria

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Biological processes related to Dihydropyrimidinuria according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1uracil catabolic processGO:00062129.3DPYS, DPYD
2thymine catabolic processGO:00062109.2DPYS, DPYD
3pyrimidine nucleobase catabolic processGO:00062089.2DPYS, DPYD
4pyrimidine nucleoside catabolic processGO:00461359.1DPYD, DPYS
5small molecule metabolic processGO:00442819.1DPYS, DPYD
6pyrimidine nucleobase metabolic processGO:00062069.0DPYS, DPYD
7nucleobase-containing small molecule metabolic processGO:00550868.8DPYS, DPYD

Products for genes affiliated with Dihydropyrimidinuria

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  • Antibodies
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  • Kits and Assays

Sources for Dihydropyrimidinuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet