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 52 48 25 54 12 68
Dihydropyrimidinase Deficiency 52 48 24 25 54 70 27 68
Dpys Deficiency 48 25 70
Dph Deficiency 48 25 70
 
Dihydropyrimidinuria Due to Dpys Deficiency 70
Dihydrouracil Amidohydrolase Deficiency 25
Dihydropyrimidinase 12
Dpysd 70

Characteristics:

Orphanet epidemiological data:

54
dihydropyrimidinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

64
dihydropyrimidinuria:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 222748
Orphanet54 ORPHA38874
ICD10 via Orphanet31 E79.8
MeSH39 D011686

Summaries for Dihydropyrimidinuria

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OMIM:52 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, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Dihydropyrimidinuria

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Symptoms by clinical synopsis from OMIM:

222748

Clinical features from OMIM:

222748

Human phenotypes related to Dihydropyrimidinuria:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 abnormal pyramidal signs64 rare (5%) HP:0007256
2 delayed speech and language development64 HP:0000750
3 intellectual disability64 HP:0001249
4 seizures64 HP:0001250
5 lethargy64 HP:0001254
6 somnolence64 HP:0001262
7 plagiocephaly64 HP:0001357
8 growth delay64 HP:0001510
9 talipes equinovarus64 HP:0001762
10 metabolic acidosis64 HP:0001942
11 abnormal facial shape64 HP:0001999
12 anal atresia64 HP:0002023
13 morphological abnormality of the pyramidal tract64 HP:0002062
14 abnormality of the cerebral white matter64 HP:0002500
15 reduced dihydropyrimidine dehydrogenase activity64 HP:0003654
16 extrapyramidal dyskinesia64 HP:0007308
17 feeding difficulties in infancy64 HP:0008872
18 short phalanx of finger64 HP:0009803

GenomeRNAi Phenotypes related to Dihydropyrimidinuria according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.1DPYD, DPYS

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 Deficiency27 24 DPYS

Anatomical Context for Dihydropyrimidinuria

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MalaCards organs/tissues related to Dihydropyrimidinuria:

36
Testes

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:

70
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
1pyrimidine nucleobase catabolic processGO:00062089.4DPYD, DPYS
2pyrimidine nucleoside catabolic processGO:00461359.2DPYD, DPYS
3uracil catabolic processGO:00062129.1DPYD, DPYS
4thymine catabolic processGO:00062109.0DPYD, DPYS

Sources for Dihydropyrimidinuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet