MCID: DHY005
MIFTS: 37

Dihydropyrimidinuria malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Dihydropyrimidinuria

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Aliases & Descriptions for Dihydropyrimidinuria:

Name: Dihydropyrimidinuria 50 46 24 52 12 66
Dihydropyrimidinase Deficiency 50 46 23 24 52 68 25 66
Dpys Deficiency 46 24 68
Dph Deficiency 46 24 68
 
Dihydropyrimidinuria Due to Dpys Deficiency 68
Dihydrouracil Amidohydrolase Deficiency 24
Dihydropyrimidinase 12
Dpysd 68

Characteristics:

Orphanet epidemiological data:

52
dihydropyrimidinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

62
dihydropyrimidinuria:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 222748
Orphanet52 ORPHA38874
ICD10 via Orphanet29 E79.8
MeSH37 D011686

Summaries for Dihydropyrimidinuria

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OMIM:50 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 neuroblastoma, and has symptoms including abnormal pyramidal signs, delayed speech and language development and intellectual disability. 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.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:

idRelated DiseaseScoreTop Affiliating Genes
1dihydropyrimidine dehydrogenase deficiency31.1DPYD, DPYS
2neuroblastoma10.4
3schizophrenia10.2
4down syndrome10.0
5polycystic kidney disease10.0
6hepatocellular carcinoma9.8
7melanoma and neural system tumor syndrome9.5DPYD, DPYS
8focal dystonia9.4DPYD, DPYS
9cataract 3, multiple types9.2DPYD, DPYS

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 18)
id Description Frequency HPO Source Accession
1 abnormal pyramidal signs rare (5%) HP:0007256
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 extrapyramidal dyskinesia HP:0007308
17 feeding difficulties in infancy HP:0008872
18 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 Deficiency25 23 DPYS

Anatomical Context for Dihydropyrimidinuria

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MalaCards organs/tissues related to Dihydropyrimidinuria:

34
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
Dihydropyrimidinuria without clinical symptoms. (8892031)
1996
8
Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. (9816152)
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:

68
id Symbol AA change Variation ID SNP ID
1DPYSp.Thr68ArgVAR_002267
2DPYSp.Gln334ArgVAR_002268rs121964923
3DPYSp.Trp360ArgVAR_002269rs121964924
4DPYSp.Gly435ArgVAR_002270rs267606773
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
59.1DPYD, DPYS
6
Show member pathways
9.1DPYD, DPYS
7
Show member pathways
9.1DPYD, 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 nucleoside catabolic processGO:00461359.1DPYD, DPYS
2uracil catabolic processGO:00062129.1DPYD, DPYS
3thymine catabolic processGO:00062109.0DPYD, DPYS
4pyrimidine nucleobase catabolic processGO:00062088.8DPYD, DPYS

Sources for Dihydropyrimidinuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet