MCID: DHY005
MIFTS: 38

Dihydropyrimidinuria malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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 67 24 65
Dpys Deficiency 45 23 67
Dph Deficiency 45 23 67
 
Dihydropyrimidinuria Due to Dpys Deficiency 67
Dihydrouracil Amidohydrolase Deficiency 23
Dpysd 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
dihydropyrimidinuria:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 222748
Orphanet51 38874
ICD10 via Orphanet28 E79.8
MeSH36 D011686
UMLS65 C0342803

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, short phalanx of finger and feeding difficulties in infancy. An important gene associated with Dihydropyrimidinuria is DPYS (Dihydropyrimidinase), and among its related pathways are Porphyrin and chlorophyll metabolism and Pyrimidine metabolism (KEGG). Affiliated tissues include testes, thyroid and prostate.

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 deficiency31.1DPYD, DPYS
2meleda disease9.5DPYD, DPYS
3cataract 17, multiple types9.4DPYD, DPYS
4generalized dystonia9.3DPYD, 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 18)
id Description Frequency HPO Source Accession
1 abnormal pyramidal signs rare (5%) HP:0007256
2 short phalanx of finger HP:0009803
3 feeding difficulties in infancy HP:0008872
4 extrapyramidal dyskinesia HP:0007308
5 reduced dihydropyrimidine dehydrogenase activity HP:0003654
6 abnormality of the cerebral white matter HP:0002500
7 morphological abnormality of the pyramidal tract HP:0002062
8 anal atresia HP:0002023
9 abnormal facial shape HP:0001999
10 metabolic acidosis HP:0001942
11 talipes equinovarus HP:0001762
12 growth delay HP:0001510
13 plagiocephaly HP:0001357
14 somnolence HP:0001262
15 lethargy HP:0001254
16 seizures HP:0001250
17 intellectual disability HP:0001249
18 delayed speech and language development HP:0000750

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 DPYS

Anatomical Context for Dihydropyrimidinuria

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MalaCards organs/tissues related to Dihydropyrimidinuria:

33
Testes, Thyroid, Prostate, Endothelial, Uterus, Breast, Lung

Animal Models for Dihydropyrimidinuria or affiliated genes

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MGI Mouse Phenotypes related to Dihydropyrimidinuria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1DPYD, DPYS
2
Show member pathways
9.1DPYD, DPYS
3
Show member pathways
9.1DPYD, DPYS
4
Show member pathways
9.1DPYD, DPYS
5
Show member pathways
9.1DPYD, DPYS
6
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 catabolic processGO:00062089.6DPYD, DPYS
2small molecule metabolic processGO:00442819.1DPYD, 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