UPB1D
MCID: BTR002
MIFTS: 33

Beta-Ureidopropionase Deficiency (UPB1D) malady

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

Aliases & Classifications for Beta-Ureidopropionase Deficiency

Aliases & Descriptions for Beta-Ureidopropionase Deficiency:

Name: Beta-Ureidopropionase Deficiency 54 24 25 56 66 13 69
Deficiency of Beta-Ureidopropionase 25 29
Beta-Alanine Synthase Deficiency 25 56
Beta-Ureidopropionase 13
Upb1d 66

Characteristics:

Orphanet epidemiological data:

56
beta-ureidopropionase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
beta-ureidopropionase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 613161
Orphanet 56 ORPHA65287
UMLS via Orphanet 70 C1291512
ICD10 via Orphanet 34 E79.8
MedGen 40 C1291512
MeSH 42 D011686

Summaries for Beta-Ureidopropionase Deficiency

UniProtKB/Swiss-Prot : 66 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 neutropenia, severe congenital 2, autosomal dominant, and has symptoms including dystonia, intellectual disability and neurological speech impairment. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (Beta-Ureidopropionase 1), and among its related pathways/superpathways are Purine metabolism (KEGG) and Porphyrin and chlorophyll metabolism. Related phenotype is Decreased shRNA abundance (Z-score < -2).

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 : 54 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

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

id Related Disease Score Top Affiliating Genes
1 status epilepticus 9.9
2 neutropenia, severe congenital 2, autosomal dominant 9.8 DPYD DPYS
3 melanoma and neural system tumor syndrome 9.7 DPYD DPYS
4 cataract 3, multiple types 9.6 DPYD DPYS UPB1
5 multifocal dystonia 9.6 DPYD DPYS UPB1

Graphical network of the top 20 diseases related to Beta-Ureidopropionase Deficiency:



Diseases related to Beta-Ureidopropionase Deficiency

Symptoms & Phenotypes for Beta-Ureidopropionase Deficiency

Symptoms by clinical synopsis from OMIM:

613161

Clinical features from OMIM:

613161

Human phenotypes related to Beta-Ureidopropionase Deficiency:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 intellectual disability 32 HP:0001249
3 neurological speech impairment 32 HP:0002167
4 scoliosis 32 HP:0002650
5 microcephaly 32 HP:0000252
6 neonatal hypotonia 32 HP:0001319
7 anal atresia 32 HP:0002023
8 bifid scrotum 32 HP:0000048
9 status epilepticus 32 HP:0002133
10 hypsarrhythmia 32 HP:0002521
11 bladder exstrophy 32 HP:0002836
12 delayed cns myelination 32 HP:0002188

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 DPYD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 DPYS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.4 DPYD
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.4 DPYD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.4 DPYS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 DPYS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 DPYD
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.4 DPYD
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.4 DPYS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.4 DPYS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 DPYS DPYD

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

Search Clinical Trials , NIH Clinical Center for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

Genetic tests related to Beta-Ureidopropionase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of Beta-Ureidopropionase 29
2 Beta-Ureidopropionase Deficiency 24 UPB1

Anatomical Context for Beta-Ureidopropionase Deficiency

Publications for Beta-Ureidopropionase Deficiency

Articles related to Beta-Ureidopropionase Deficiency:

id Title Authors Year
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
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. ( 16541364 )
2006
4
Beta-ureidopropionase deficiency presenting with febrile status epilepticus. ( 16417553 )
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
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. ( 11675655 )
2001
9
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. ( 11804209 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 UPB1 p.Ala85Glu VAR_026752 rs34035085

ClinVar genetic disease variations for Beta-Ureidopropionase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UPB1 NM_016327.2(UPB1): c.105-2A> G single nucleotide variant Pathogenic rs138081800 GRCh37 Chromosome 22, 24896073: 24896073
2 UPB1 NM_016327.2(UPB1): c.917-2A> G single nucleotide variant Pathogenic rs876657373 GRCh38 Chromosome 22, 24523617: 24523617
3 UPB1 NM_016327.2(UPB1): c.209G> C (p.Arg70Pro) single nucleotide variant Pathogenic rs121908066 GRCh37 Chromosome 22, 24896179: 24896179

Expression for Beta-Ureidopropionase Deficiency

Search GEO for disease gene expression data for Beta-Ureidopropionase Deficiency.

Pathways for Beta-Ureidopropionase Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 DPYD DPYS UPB1
2
Show member pathways
11.98 DPYD DPYS UPB1
3
Show member pathways
11.84 DPYD DPYS UPB1
4
Show member pathways
11.56 DPYD DPYS UPB1
5
Show member pathways
10.86 DPYD DPYS UPB1
6
Show member pathways
10.39 DPYD DPYS UPB1
7 10.05 DPYD DPYS UPB1

GO Terms for Beta-Ureidopropionase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 thymine catabolic process GO:0006210 9.32 DPYD DPYS
2 beta-alanine biosynthetic process GO:0019483 9.26 DPYD UPB1
3 uracil catabolic process GO:0006212 9.16 DPYD DPYS
4 pyrimidine nucleobase catabolic process GO:0006208 8.96 DPYD DPYS
5 pyrimidine nucleoside catabolic process GO:0046135 8.8 DPYD DPYS UPB1

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds GO:0016810 8.62 DPYS UPB1

Sources for Beta-Ureidopropionase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....