MCID: BTR002
MIFTS: 35

Beta-Ureidopropionase Deficiency malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Beta-Ureidopropionase Deficiency

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47OMIM, 33MalaCards
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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:47 613161

Aliases & Classifications for Beta-Ureidopropionase Deficiency

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Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS 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):

49
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-ureidopropionase deficiency 20 22 47 49
deficiency of beta-ureidopropionase 62
beta-alanine synthase deficiency 49


External Ids:

OMIM47 613161
ICD10 via Orphanet26 E79.8
SNOMED-CT via Orphanet59 124511000
UMLS via Orphanet63 C1291512

Related Diseases for Beta-Ureidopropionase Deficiency

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17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Beta-Ureidopropionase Deficiency

Search NIH Clinical Center for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Beta-Ureidopropionase Deficiency:

id Genetic test Affiliating Genes
1 Beta-Ureidopropionase Deficiency20 UPB1
2 Deficiency of Beta-Ureidopropionase22

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:
52PubMed
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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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Beta-Ureidopropionase Deficiency:

64
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, 15Gene 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:
50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 51PharmGKB
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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 II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
8.5UPB1, DPYS, DPYD
3
Show member pathways
8.5UPB1, DPYS, DPYD
4
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
8.5UPB1, DPYS, DPYD
5
Show member pathways
8.5DPYD, DPYS, UPB1
6
Show member pathways
thymine degradation38
pyrimidine deoxyribonucleosides degradation38
uracil degradation I (reductive)38
pyrimidine ribonucleosides degradation38
8.5UPB1, DPYS, DPYD
78.5DPYD, DPYS, UPB1
8
Show member pathways
phenylethylamine degradation I38
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:
45Novoseek, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1beta-aminoisobutyric acid459.6DPYD, UPB1
2beta-alanine45 61 29 24 1113.4UPB1, DPYD
3Dihydrothymine249.4DPYD, DPYS
45,6-dihydrothymine459.4DPYS, DPYD
5Ureidoisobutyric acid249.3DPYS, UPB1
6dihydrouracil45 2410.3DPYD, DPYS
7molybdenum45 2410.3DPYS, DPYD
8Ureidopropionic acid249.2UPB1, DPYS
9purine nucleoside459.2DPYS, DPYD
10thymine45 2410.1DPYD, DPYS
11Water249.0UPB1, DPYS
125fluorouracil459.0DPYS, DPYD
13thymidine45 249.8DPYS, DPYD
14pyrimidine45 249.8UPB1, DPYS, DPYD
15purine45 249.7DPYD, DPYS, UPB1

GO Terms for genes affiliated with Beta-Ureidopropionase Deficiency

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet