MCID: DHY005
MIFTS: 35

Dihydropyrimidinuria malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Dihydropyrimidinuria

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Aliases & Descriptions for Dihydropyrimidinuria:

Name: Dihydropyrimidinuria 49 11 45 23 51 65
Dihydropyrimidinase Deficiency 45 22 23 51 24 65 67
Dpys Deficiency 45 23 67
Dph Deficiency 45 23 67
 
Dihydropyrimidinuria Due to Dpys Deficiency 67
Dihydrouracil Amidohydrolase Deficiency 23
Dpysd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
dihydropyrimidinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM49 222748
Orphanet51 38874
ICD10 via Orphanet28 E79.8
MeSH36 D011686

Summaries for Dihydropyrimidinuria

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OMIM:49 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 meleda disease, and has symptoms including abnormal pyramidal signs, autosomal recessive inheritance and delayed speech and language development. An important gene associated with Dihydropyrimidinuria is DPYS (Dihydropyrimidinase), and among its related pathways are Porphyrin and chlorophyll metabolism and . Affiliated tissues include testes.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Dihydropyrimidinuria

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

idRelated DiseaseScoreTop Affiliating Genes
1dihydropyrimidine dehydrogenase deficiency30.3DPYD, DPYS
2meleda disease9.8DPYD, DPYS
3cataract 17, multiple types9.8DPYD, DPYS
4radial neuropathy9.7DPYD, DPYS

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 20)
id Description Frequency HPO Source Accession
1 abnormal pyramidal signs rare (5%) HP:0007256
2 autosomal recessive inheritance HP:0000007
3 delayed speech and language development HP:0000750
4 intellectual disability HP:0001249
5 seizures HP:0001250
6 lethargy HP:0001254
7 somnolence HP:0001262
8 plagiocephaly HP:0001357
9 growth delay HP:0001510
10 talipes equinovarus HP:0001762
11 metabolic acidosis HP:0001942
12 abnormal facial shape HP:0001999
13 anal atresia HP:0002023
14 morphological abnormality of the pyramidal tract HP:0002062
15 abnormality of the cerebral white matter HP:0002500
16 reduced dihydropyrimidine dehydrogenase activity HP:0003654
17 phenotypic variability HP:0003812
18 extrapyramidal dyskinesia HP:0007308
19 feeding difficulties in infancy HP:0008872
20 short phalanx of finger HP:0009803

Drugs & Therapeutics for Dihydropyrimidinuria

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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency22 24 DPYS

Anatomical Context for Dihydropyrimidinuria

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MalaCards organs/tissues related to Dihydropyrimidinuria:

33
Testes

Animal Models for Dihydropyrimidinuria or affiliated genes

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Publications for Dihydropyrimidinuria

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Articles related to Dihydropyrimidinuria:

(show all 11)
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
HPLC/ESI tandem-MS of liquid urine or urine soaked filter-paper strips for the detection of thymine-uraciluria and dihydropyrimidinuria. (11783519)
2000
4
Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity. (9714435)
1998
5
Dihydropyrimidinase deficiency (dihydropyrimidinuria)]. (9590033)
1998
6
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. (9266350)
1997
7
Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. (9816152)
1996
8
Dihydropyrimidinuria without clinical symptoms. (8892031)
1996
9
Dihydropyrimidinuria: the first case in Japan. (7660934)
1994
10
Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. (1770794)
1991
11
Dihydropyrimidinuria. (1976182)
1990

Variations for Dihydropyrimidinuria

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UniProtKB/Swiss-Prot genetic disease variations for Dihydropyrimidinuria:

67
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:

5
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
9.1DPYD, DPYS
2
Pyrimidine metabolism (KEGG)
Show member pathways
9.1DPYD, DPYS
3
Show member pathways
9.1DPYD, DPYS
4
Pyrimidine metabolism (REACTOME)
Show member pathways
9.1DPYD, DPYS
5
Beta-alanine metabolism (TR)
Show member pathways
9.1DPYD, DPYS
6
beta-Alanine metabolism (KEGG)
Show member pathways
9.1DPYD, DPYS
79.1DPYD, DPYS

GO Terms for genes affiliated with Dihydropyrimidinuria

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

idNameGO IDScoreTop Affiliating Genes
1pyrimidine nucleobase metabolic processGO:00062069.2DPYD, DPYS
2pyrimidine nucleobase catabolic processGO:00062089.2DPYD, DPYS
3thymine catabolic processGO:00062109.1DPYD, DPYS
4nucleobase-containing small molecule metabolic processGO:00550869.1DPYD, DPYS
5uracil catabolic processGO:00062129.0DPYD, DPYS
6pyrimidine nucleoside catabolic processGO:00461358.8DPYD, DPYS

Sources for Dihydropyrimidinuria

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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