DPYSD
MCID: DHY005
MIFTS: 37

Dihydropyrimidinuria (DPYSD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Dihydropyrimidinuria

Aliases & Descriptions for Dihydropyrimidinuria:

Name: Dihydropyrimidinuria 54 50 25 56 13 69
Dihydropyrimidinase Deficiency 54 50 24 25 56 66 29 69
Dpys Deficiency 50 25 66
Dph Deficiency 50 25 66
Dihydropyrimidinuria Due to Dpys Deficiency 66
Dihydrouracil Amidohydrolase Deficiency 25
Dihydropyrimidinase 13
Dpysd 66

Characteristics:

Orphanet epidemiological data:

56
dihydropyrimidinuria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

32
dihydropyrimidinuria:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 222748
Orphanet 56 ORPHA38874
ICD10 via Orphanet 34 E79.8
MeSH 42 D011686

Summaries for Dihydropyrimidinuria

OMIM : 54 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 seizures, lethargy and excessive daytime somnolence. An important gene associated with Dihydropyrimidinuria is DPYS (Dihydropyrimidinase), and among its related pathways/superpathways are Purine metabolism (KEGG) and Porphyrin and chlorophyll metabolism. Affiliated tissues include testes, and related phenotype is Decreased shRNA abundance (Z-score < -2).

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.

UniProtKB/Swiss-Prot : 66 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

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 dihydropyrimidine dehydrogenase deficiency 11.1
2 neuroblastoma 10.3
3 schizophrenia 10.0
4 polycystic kidney disease 9.9
5 down syndrome 9.8
6 melanoma and neural system tumor syndrome 9.8 DPYD DPYS
7 neutropenia, severe congenital 2, autosomal dominant 9.8 DPYD DPYS
8 cataract 3, multiple types 9.8 DPYD DPYS
9 chromophobe renal cell carcinoma 9.8
10 endometriosis 9.8
11 multifocal dystonia 9.7 DPYD DPYS
12 hepatocellular carcinoma 9.7
13 bipolar disorder 9.7
14 gastric cancer 9.7

Graphical network of the top 20 diseases related to Dihydropyrimidinuria:



Diseases related to Dihydropyrimidinuria

Symptoms & Phenotypes for Dihydropyrimidinuria

Symptoms by clinical synopsis from OMIM:

222748

Clinical features from OMIM:

222748

Human phenotypes related to Dihydropyrimidinuria:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 lethargy 32 HP:0001254
3 excessive daytime somnolence 32 HP:0001262
4 abnormal pyramidal signs 32 HP:0007256
5 intellectual disability 32 HP:0001249
6 delayed speech and language development 32 HP:0000750
7 abnormal facial shape 32 HP:0001999
8 feeding difficulties in infancy 32 HP:0008872
9 growth delay 32 HP:0001510
10 anal atresia 32 HP:0002023
11 talipes equinovarus 32 HP:0001762
12 metabolic acidosis 32 HP:0001942
13 plagiocephaly 32 HP:0001357
14 short phalanx of finger 32 HP:0009803
15 abnormality of the cerebral white matter 32 HP:0002500
16 extrapyramidal dyskinesia 32 HP:0007308
17 morphological abnormality of the pyramidal tract 32 HP:0002062
18 reduced dihydropyrimidine dehydrogenase activity 32 HP:0003654

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 DPYD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 DPYS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.4 DPYD
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.4 DPYD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.4 DPYS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 DPYS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 DPYD
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.4 DPYD
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.4 DPYS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.4 DPYS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 DPYD DPYS

Drugs & Therapeutics for Dihydropyrimidinuria

Search Clinical Trials , NIH Clinical Center for Dihydropyrimidinuria

Genetic Tests for Dihydropyrimidinuria

Genetic tests related to Dihydropyrimidinuria:

id Genetic test Affiliating Genes
1 Dihydropyrimidinase Deficiency 29 24 DPYS

Anatomical Context for Dihydropyrimidinuria

MalaCards organs/tissues related to Dihydropyrimidinuria:

39
Testes

Publications for Dihydropyrimidinuria

Articles related to Dihydropyrimidinuria:

(show all 11)
id Title Authors Year
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
[Dihydropyrimidinase deficiency (dihydropyrimidinuria)]. ( 9590033 )
1998
5
Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity. ( 9714435 )
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

UniProtKB/Swiss-Prot genetic disease variations for Dihydropyrimidinuria:

66
id Symbol AA change Variation ID SNP ID
1 DPYS p.Thr68Arg VAR_002267
2 DPYS p.Gln334Arg VAR_002268 rs121964923
3 DPYS p.Trp360Arg VAR_002269 rs121964924
4 DPYS p.Gly435Arg VAR_002270 rs267606773
5 DPYS p.Arg490Thr VAR_002271

ClinVar genetic disease variations for Dihydropyrimidinuria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DPYS NM_001385.2(DPYS): c.1001A> G (p.Gln334Arg) single nucleotide variant Pathogenic rs121964923 GRCh37 Chromosome 8, 105440299: 105440299
2 DPYS NM_001385.2(DPYS): c.1303G> A (p.Gly435Arg) single nucleotide variant Pathogenic rs267606773 GRCh37 Chromosome 8, 105405152: 105405152
3 DPYS NM_001385.2(DPYS): c.1078T> C (p.Trp360Arg) single nucleotide variant Pathogenic rs121964924 GRCh37 Chromosome 8, 105440222: 105440222
4 DPYS NM_001385.2(DPYS): c.1235G> T (p.Arg412Met) single nucleotide variant Pathogenic rs267606774 GRCh37 Chromosome 8, 105436475: 105436475
5 DPYS NM_001385.2(DPYS): c.424-1G> A single nucleotide variant Pathogenic rs879851088 GRCh37 Chromosome 8, 105459732: 105459732

Expression for Dihydropyrimidinuria

Search GEO for disease gene expression data for Dihydropyrimidinuria.

Pathways for Dihydropyrimidinuria

Pathways related to Dihydropyrimidinuria according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 DPYD DPYS
2
Show member pathways
11.8 DPYD DPYS
3
Show member pathways
11.66 DPYD DPYS
4
Show member pathways
11.39 DPYD DPYS
5
Show member pathways
10.69 DPYD DPYS
6
Show member pathways
10.21 DPYD DPYS
7 9.88 DPYD DPYS

GO Terms for Dihydropyrimidinuria

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

id Name GO ID Score Top Affiliating Genes
1 pyrimidine nucleoside catabolic process GO:0046135 9.26 DPYD DPYS
2 thymine catabolic process GO:0006210 9.16 DPYD DPYS
3 uracil catabolic process GO:0006212 8.96 DPYD DPYS
4 pyrimidine nucleobase catabolic process GO:0006208 8.62 DPYD DPYS

Sources for Dihydropyrimidinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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