MCID: BTR002
MIFTS: 30

Beta-Ureidopropionase Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Beta-Ureidopropionase Deficiency

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Sources:
46OMIM, 32MalaCards
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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 thymine degradation and Glucuronidation. The compounds beta-aminoisobutyric acid and beta-alanine have been mentioned in the context of this disorder.

Description from OMIM:46 613161

Aliases & Classifications for Beta-Ureidopropionase Deficiency

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-ureidopropionase deficiency 20 22 46 48
deficiency of beta-ureidopropionase 60
beta-alanine synthase deficiency 48


External Ids:

OMIM46 613161
ICD10 via Orphanet26 E79.8
SNOMED-CT via Orphanet57 124511000
UMLS via Orphanet61 C1291512

Related Diseases for Beta-Ureidopropionase Deficiency

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Sources:
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 epilepticus10.2
25-fluorouracil toxicity10.0DPYD
3dihydropyrimidine dehydrogenase deficiency10.0DPYD, DPYS

Clinical Features for Beta-Ureidopropionase Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

613161

Clinical synopsis from OMIM:

613161

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
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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Genetic Variations for Beta-Ureidopropionase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Beta-Ureidopropionase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1UPB1p.Ala85GluVAR_026752rs34035085

Expression for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
1BioGPS, 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:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 49PharmGKB, 12EMD Millipore
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Compounds for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1beta-aminoisobutyric acid449.6DPYD, UPB1
2beta-alanine44 59 11 2412.4DPYD, UPB1
35,6-dihydrothymine449.3DPYS, DPYD
4dihydrouracil44 2410.3DPYD, DPYS
5molybdenum44 2410.2DPYS, DPYD
6purine nucleoside449.1DPYD, DPYS
7thymidine44 2410.1DPYD, DPYS
8thymine44 2410.0DPYS, DPYD
95fluorouracil448.8DPYD, DPYS
10pyrimidine44 249.7DPYD, DPYS, UPB1
11purine44 249.7DPYD, DPYS, UPB1

GO Terms for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
16Gene Ontology
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Cellular components related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

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

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO:0194839.4UPB1, DPYD
2uracil catabolic processGO:0062129.2DPYS, DPYD
3thymine catabolic processGO:0062109.1DPYS, DPYD
4pyrimidine nucleobase catabolic processGO:0062088.8DPYD, DPYS
5pyrimidine nucleoside catabolic processGO:0461358.7DPYD, DPYS, UPB1
6pyrimidine nucleobase metabolic processGO:0062068.7DPYD, DPYS, UPB1
7small molecule metabolic processGO:0442818.5DPYD, DPYS, UPB1
8nucleobase-containing small molecule metabolic processGO:0550868.4UPB1, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet