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 colorectal cancer and hepatocellular carcinoma, 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 . Affiliated tissues include prostate.

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:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer10.3
2hepatocellular carcinoma10.3
3lipoma10.3
4chronic lymphocytic leukemia10.3
5hepatitis10.3
6leukemia10.3
7liver disease10.3
8neutropenia10.3
9pyelonephritis10.3
10xanthogranulomatous pyelonephritis10.3
11acoustic neuroma10.3
12neuroma10.3
13thyroiditis10.3
14autoimmune thyroiditis10.3
15dihydropyrimidine dehydrogenase deficiency9.7DPYD, DPYS
16meleda disease9.5DPYD, DPYS
17cataract 17, multiple types9.3DPYD, DPYS, UPB1
18generalized dystonia9.2DPYD, 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
Prostate

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
Ectopic thymoma presenting as a giant intrathoracic tumor: a case report. (21711524)
2011
2
Plasma protein profiling reveals protein clusters related to BMI and insulin levels in middle-aged overweight subjects. (21203453)
2010
3
Delayed onset of acute renal failure after significant paracetamol overdose: A case series. (19815612)
2010
4
MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters. (16043483)
2005
5
Gastroduodenal tolerability of lumiracoxib vs placebo and naproxen: a pilot endoscopic study in healthy male subjects. (12950426)
2003
6
Protein kinase G activates inwardly rectifying K(+) channel in cultured human proximal tubule cells. (12217870)
2002
7
Holistic care for a man with prostate disease. (10687643)
1999
8
The development of Na(+)-dependent glucose transport during differentiation of an intestinal epithelial cell clone is regulated by protein kinase C. (7759499)
1995
9
Primary repair of complete atrioventricular septal defect in infancy. (1772666)
1991
10
Reduction of paraphimosis. (5426692)
1970

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