MCID: BTR002
MIFTS: 35

Beta-Ureidopropionase Deficiency malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Beta-Ureidopropionase Deficiency

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48OMIM, 34MalaCards
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MalaCards: Beta-Ureidopropionase Deficiency, also known as deficiency of beta-ureidopropionase, is related to status epilepticus and 5-fluorouracil toxicity. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (ureidopropionase, beta), and among its related pathways are Glucuronidation and Purine metabolism. The compounds beta-aminoisobutyric acid and beta-alanine have been mentioned in the context of this disorder.

Description from OMIM:48 613161

Aliases & Classifications for Beta-Ureidopropionase Deficiency

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-ureidopropionase deficiency 21 23 48 50
deficiency of beta-ureidopropionase 63
beta-alanine synthase deficiency 50


External Ids:

OMIM48 613161
ICD10 via Orphanet27 E79.8
SNOMED-CT via Orphanet60 124511000
UMLS via Orphanet64 C1291512

Related Diseases for Beta-Ureidopropionase Deficiency

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Beta-Ureidopropionase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1status epilepticus10.3
25-fluorouracil toxicity10.1DPYD
3dihydropyrimidine dehydrogenase deficiency9.9DPYS, DPYD

Symptoms for Beta-Ureidopropionase Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613161

Clinical features from OMIM:

613161

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Beta-Ureidopropionase Deficiency

Drug clinical trials:

Search ClinicalTrials for Beta-Ureidopropionase Deficiency

Search NIH Clinical Center for Beta-Ureidopropionase Deficiency

Search CenterWatch for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Beta-Ureidopropionase Deficiency:

id Genetic test Affiliating Genes
1 Beta-Ureidopropionase Deficiency21 UPB1
2 Deficiency of Beta-Ureidopropionase23

Anatomical Context for Beta-Ureidopropionase Deficiency

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Animal Models for Beta-Ureidopropionase Deficiency or affiliated genes

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Publications for Beta-Ureidopropionase Deficiency

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Sources:
53PubMed
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Articles related to Beta-Ureidopropionase Deficiency:

idTitleAuthorsYear
1
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. (18853477)
2009
2
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. (17964839)
2008
3
Beta-ureidopropionase deficiency presenting with febrile status epilepticus. (16417553)
2006
4
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. (16541364)
2006
5
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. (17065070)
2006
6
Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (15385443)
2004
7
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. (12271438)
2002
8
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. (11804209)
2001
9
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. (11675655)
2001
10
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency. (11783492)
2000

Variations for Beta-Ureidopropionase Deficiency

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Beta-Ureidopropionase Deficiency:

65
id Symbol AA change Variation ID SNP ID
1UPB1p.Ala85GluVAR_026752rs34035085

Clinvar genetic disease variations for Beta-Ureidopropionase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1UPB1UPB1, IVS1, A-G, -2single nucleotide variantPathogenic
2UPB1UPB1, IVS8, G-A, -1single nucleotide variantPathogenic
3UPB1NM_016327.2(UPB1): c.254C> A (p.Ala85Glu)single nucleotide variantPathogenicrs34035085GRCh37Chr 22, 24896224: 24896224
4UPB1NM_016327.2(UPB1): c.209G> C (p.Arg70Pro)single nucleotide variantPathogenicrs121908066GRCh37Chr 22, 24896179: 24896179

Expression for genes affiliated with Beta-Ureidopropionase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Beta-Ureidopropionase Deficiency

Search GEO for disease gene expression data for Beta-Ureidopropionase Deficiency.

Pathways for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 52PharmGKB
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Pathways related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5DPYD, DPYS, UPB1
2
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
8.5UPB1, DPYS, DPYD
3
Show member pathways
8.5UPB1, DPYS, DPYD
4
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
8.5UPB1, DPYS, DPYD
5
Show member pathways
8.5DPYD, DPYS, UPB1
6
Show member pathways
thymine degradation39
pyrimidine deoxyribonucleosides degradation39
uracil degradation I (reductive)39
pyrimidine ribonucleosides degradation39
8.5UPB1, DPYS, DPYD
78.5DPYD, DPYS, UPB1
8
Show member pathways
phenylethylamine degradation I39
8.5UPB1, DPYS, DPYD
9
Show member pathways
8.5UPB1, DPYS, DPYD

Compounds for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
46Novoseek, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1beta-aminoisobutyric acid469.6DPYD, UPB1
2beta-alanine46 62 30 25 1213.4UPB1, DPYD
3Dihydrothymine259.4DPYD, DPYS
45,6-dihydrothymine469.4DPYS, DPYD
5Ureidoisobutyric acid259.3DPYS, UPB1
6dihydrouracil46 2510.3DPYD, DPYS
7molybdenum46 2510.3DPYS, DPYD
8Ureidopropionic acid259.2UPB1, DPYS
9purine nucleoside469.2DPYS, DPYD
10thymine46 2510.1DPYD, DPYS
11Water259.0UPB1, DPYS
125fluorouracil469.0DPYS, DPYD
13thymidine46 259.8DPYS, DPYD
14pyrimidine46 259.8UPB1, DPYS, DPYD
15purine46 259.7DPYD, DPYS, UPB1

GO Terms for genes affiliated with Beta-Ureidopropionase Deficiency

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17Gene Ontology
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Cellular components related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5UPB1, DPYS, DPYD

Biological processes related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO:0194839.4DPYD, UPB1
2uracil catabolic processGO:0062129.1DPYD, DPYS
3thymine catabolic processGO:0062109.0DPYS, DPYD
4pyrimidine nucleobase catabolic processGO:0062088.8DPYS, DPYD
5pyrimidine nucleoside catabolic processGO:0461358.7UPB1, DPYS, DPYD
6pyrimidine nucleobase metabolic processGO:0062068.7DPYD, DPYS, UPB1
7nucleobase-containing small molecule metabolic processGO:0550868.6UPB1, DPYS, DPYD
8small molecule metabolic processGO:0442818.5UPB1, DPYS, DPYD

Products for genes affiliated with Beta-Ureidopropionase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beta-Ureidopropionase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet