MCID: BTR002
MIFTS: 36

Beta-Ureidopropionase Deficiency malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Beta-Ureidopropionase Deficiency

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Aliases & Descriptions for Beta-Ureidopropionase Deficiency:

Name: Beta-Ureidopropionase Deficiency 49 11 22 23 51 67 65
Deficiency of Beta-Ureidopropionase 23 24
Beta-Alanine Synthase Deficiency 23 51
 
Beta-Ureidopropionase 11
Bupd 67

Characteristics:

Orphanet epidemiological data:

51
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
beta-ureidopropionase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 613161
Orphanet51 65287
ICD10 via Orphanet28 E79.8
UMLS via Orphanet66 C1291512
MedGen34 C1291512
MeSH36 D011686
UMLS65 C1291512

Summaries for Beta-Ureidopropionase Deficiency

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UniProtKB/Swiss-Prot:67 Beta-ureidopropionase deficiency: An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine.

MalaCards based summary: Beta-Ureidopropionase Deficiency, also known as deficiency of beta-ureidopropionase, is related to status epilepticus and dihydropyrimidine dehydrogenase deficiency, and has symptoms including intellectual disability, bifid scrotum and microcephaly. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (Ureidopropionase, Beta), and among its related pathways are Porphyrin and chlorophyll metabolism and Pyrimidine metabolism (KEGG). Affiliated tissues include thyroid, prostate and liver.

Genetics Home Reference:23 Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.

OMIM:49 Beta-ureidopropionase deficiency is a very rare autosomal recessive inborn error of metabolism due to a defect in... (613161) more...

Related Diseases for Beta-Ureidopropionase Deficiency

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Diseases related to Beta-Ureidopropionase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1status epilepticus10.1
2dihydropyrimidine dehydrogenase deficiency9.5DPYD, DPYS
3meleda disease9.3DPYD, DPYS
4cataract 17, multiple types8.9DPYD, DPYS, UPB1
5generalized dystonia8.8DPYD, DPYS, UPB1

Graphical network of diseases related to Beta-Ureidopropionase Deficiency:



Diseases related to beta-ureidopropionase deficiency

Symptoms for Beta-Ureidopropionase Deficiency

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Symptoms by clinical synopsis from OMIM:

613161

Clinical features from OMIM:

613161

HPO human phenotypes related to Beta-Ureidopropionase Deficiency:

(show all 12)
id Description Frequency HPO Source Accession
1 intellectual disability 2% HP:0001249
2 bifid scrotum very rare (1%) HP:0000048
3 microcephaly very rare (1%) HP:0000252
4 anal atresia very rare (1%) HP:0002023
5 status epilepticus very rare (1%) HP:0002133
6 hypsarrhythmia very rare (1%) HP:0002521
7 scoliosis very rare (1%) HP:0002650
8 neonatal hypotonia HP:0001319
9 dystonia HP:0001332
10 neurological speech impairment HP:0002167
11 delayed cns myelination HP:0002188
12 bladder exstrophy HP:0002836

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

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Genetic tests related to Beta-Ureidopropionase Deficiency:

id Genetic test Affiliating Genes
1 Beta-Ureidopropionase Deficiency22 UPB1

Anatomical Context for Beta-Ureidopropionase Deficiency

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MalaCards organs/tissues related to Beta-Ureidopropionase Deficiency:

33
Thyroid, Prostate, Liver

Animal Models for Beta-Ureidopropionase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Beta-Ureidopropionase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Beta-Ureidopropionase Deficiency

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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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UniProtKB/Swiss-Prot genetic disease variations for Beta-Ureidopropionase Deficiency:

67
id Symbol AA change Variation ID SNP ID
1UPB1p.Ala85GluVAR_026752rs34035085

Clinvar genetic disease variations for Beta-Ureidopropionase Deficiency:

5
id Gene Variation 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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Search GEO for disease gene expression data for Beta-Ureidopropionase Deficiency.

Pathways for genes affiliated with Beta-Ureidopropionase Deficiency

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Pathways related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5DPYD, DPYS, UPB1
2
Show member pathways
8.5DPYD, DPYS, UPB1
3
Show member pathways
8.5DPYD, DPYS, UPB1
4
Show member pathways
8.5DPYD, DPYS, UPB1
5
Show member pathways
8.5DPYD, DPYS, UPB1
6
Show member pathways
8.5DPYD, DPYS, UPB1
78.5DPYD, DPYS, UPB1

GO Terms for genes affiliated with Beta-Ureidopropionase Deficiency

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Biological processes related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO:00194839.7DPYD, UPB1
2pyrimidine nucleobase catabolic processGO:00062089.6DPYD, DPYS
3small molecule metabolic processGO:00442818.5DPYD, DPYS, UPB1

Sources for Beta-Ureidopropionase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet