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 51 47 25 53 12 67
Dihydropyrimidinase Deficiency 51 47 24 25 53 69 26 67
Dpys Deficiency 47 25 69
Dph Deficiency 47 25 69
 
Dihydropyrimidinuria Due to Dpys Deficiency 69
Dihydrouracil Amidohydrolase Deficiency 25
Dihydropyrimidinase 12
Dpysd 69

Characteristics:

Orphanet epidemiological data:

53
dihydropyrimidinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

63
dihydropyrimidinuria:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 222748
Orphanet53 ORPHA38874
ICD10 via Orphanet30 E79.8
MeSH38 D011686

Summaries for Dihydropyrimidinuria

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OMIM:51 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 beta-Alanine metabolism (KEGG). Affiliated tissues include testes.

UniProtKB/Swiss-Prot:69 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:25 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 13)
idRelated DiseaseScoreTop Affiliating Genes
1dihydropyrimidine dehydrogenase deficiency30.9DPYD, DPYS
2neuroblastoma10.4
3schizophrenia10.0
4down syndrome9.8
5chromophobe renal cell carcinoma9.8
6endometriosis9.8
7hepatocellular carcinoma9.7
8bipolar disorder9.7
9gastric cancer9.7
10ischemia9.7
11melanoma and neural system tumor syndrome9.5DPYD, DPYS
12focal dystonia9.5DPYD, DPYS
13cataract 3, multiple types9.3DPYD, 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

Human phenotypes related to Dihydropyrimidinuria:

 63 (show all 18)
id Description HPO Frequency HPO Source Accession
1 abnormal pyramidal signs63 rare (5%) HP:0007256
2 delayed speech and language development63 HP:0000750
3 intellectual disability63 HP:0001249
4 seizures63 HP:0001250
5 lethargy63 HP:0001254
6 somnolence63 HP:0001262
7 plagiocephaly63 HP:0001357
8 growth delay63 HP:0001510
9 talipes equinovarus63 HP:0001762
10 metabolic acidosis63 HP:0001942
11 abnormal facial shape63 HP:0001999
12 anal atresia63 HP:0002023
13 morphological abnormality of the pyramidal tract63 HP:0002062
14 abnormality of the cerebral white matter63 HP:0002500
15 reduced dihydropyrimidine dehydrogenase activity63 HP:0003654
16 extrapyramidal dyskinesia63 HP:0007308
17 feeding difficulties in infancy63 HP:0008872
18 short phalanx of finger63 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 Deficiency26 24 DPYS

Anatomical Context for Dihydropyrimidinuria

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MalaCards organs/tissues related to Dihydropyrimidinuria:

35
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:

69
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)SNVPathogenicrs121964923GRCh37Chr 8, 105440299: 105440299
2DPYSNM_001385.2(DPYS): c.1303G> A (p.Gly435Arg)SNVPathogenicrs267606773GRCh37Chr 8, 105405152: 105405152
3DPYSNM_001385.2(DPYS): c.1078T> C (p.Trp360Arg)SNVPathogenicrs121964924GRCh37Chr 8, 105440222: 105440222
4DPYSNM_001385.2(DPYS): c.1235G> T (p.Arg412Met)SNVPathogenicrs267606774GRCh37Chr 8, 105436475: 105436475
5DPYSNM_001385.2(DPYS): c.424-1G> ASNVPathogenicrs879851088GRCh37Chr 8, 105459732: 105459732

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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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
1thymine catabolic processGO:00062109.1DPYD, DPYS
2pyrimidine nucleoside catabolic processGO:00461359.1DPYD, DPYS
3pyrimidine nucleobase catabolic processGO:00062089.0DPYD, DPYS
4uracil catabolic processGO:00062128.8DPYD, DPYS

Sources for Dihydropyrimidinuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet