MCID: BTR002
MIFTS: 33

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 51 24 25 53 69 12 67
Deficiency of Beta-Ureidopropionase 25 26
Beta-Alanine Synthase Deficiency 25 53
 
Beta-Ureidopropionase 12
Upb1d 69

Characteristics:

Orphanet epidemiological data:

53
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
beta-ureidopropionase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 613161
Orphanet53 ORPHA65287
UMLS via Orphanet68 C1291512
ICD10 via Orphanet30 E79.8
MedGen36 C1291512
MeSH38 D011686

Summaries for Beta-Ureidopropionase Deficiency

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UniProtKB/Swiss-Prot:69 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 (Beta-Ureidopropionase 1), and among its related pathways are Porphyrin and chlorophyll metabolism and beta-Alanine metabolism (KEGG).

Genetics Home Reference:25 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:51 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 epilepticus9.9
2dihydropyrimidine dehydrogenase deficiency9.5DPYD, DPYS
3melanoma and neural system tumor syndrome9.3DPYD, DPYS
4focal dystonia9.0DPYD, DPYS, UPB1
5cataract 3, multiple types8.9DPYD, 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

Human phenotypes related to Beta-Ureidopropionase Deficiency:

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 intellectual disability63 2% HP:0001249
2 bifid scrotum63 very rare (1%) HP:0000048
3 microcephaly63 very rare (1%) HP:0000252
4 anal atresia63 very rare (1%) HP:0002023
5 status epilepticus63 very rare (1%) HP:0002133
6 hypsarrhythmia63 very rare (1%) HP:0002521
7 scoliosis63 very rare (1%) HP:0002650
8 neonatal hypotonia63 HP:0001319
9 dystonia63 HP:0001332
10 neurological speech impairment63 HP:0002167
11 delayed cns myelination63 HP:0002188
12 bladder exstrophy63 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 Deficiency of Beta-Ureidopropionase26
2 Beta-Ureidopropionase Deficiency24 UPB1

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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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:

69
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
1UPB1NM_016327.2(UPB1): c.105-2A> GSNVPathogenicrs138081800GRCh37Chr 22, 24896073: 24896073
2UPB1NM_016327.2(UPB1): c.917-2A> GSNVPathogenicrs876657373GRCh38Chr 22, 24523617: 24523617
3UPB1NM_016327.2(UPB1): c.254C> A (p.Ala85Glu)SNVPathogenicrs34035085GRCh37Chr 22, 24896224: 24896224
4UPB1NM_016327.2(UPB1): c.209G> C (p.Arg70Pro)SNVPathogenicrs121908066GRCh37Chr 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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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
1thymine catabolic processGO:00062109.1DPYD, DPYS
2beta-alanine biosynthetic processGO:00194839.1DPYD, UPB1
3pyrimidine nucleobase catabolic processGO:00062089.0DPYD, DPYS
4uracil catabolic processGO:00062128.8DPYD, DPYS
5pyrimidine nucleoside catabolic processGO:00461358.5DPYD, DPYS, UPB1

Sources for Beta-Ureidopropionase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet