eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| beta-ureidopropionase deficiency | ||||
| Disease ID | 1229 |
|---|---|
| Disease | beta-ureidopropionase deficiency |
| Synonym | deficiency of beta-ureidopropionase deficiency of beta-ureidopropionase (disorder) upb1d |
| Orphanet | |
| OMIM | |
| UMLS | C1291512 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) UPB1 | 22q11.23 |
| Disease ID | 1229 |
|---|---|
| Disease | beta-ureidopropionase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0001249 | Mental retardation HP:0000252 | Small head circumference HP:0002167 | Speech disorder HP:0002133 | Status epilepticus HP:0002023 | Anal atresia HP:0002650 | Scoliosis HP:0001332 | Dystonia HP:0002836 | Bladder exstrophy HP:0001319 | Hypotonia, in neonatal onset HP:0002188 | Delayed CNS myelination HP:0002521 | Hypsarrhythmia by EEG HP:0000048 | Bifid scrotum |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1229 |
|---|---|
| Disease | beta-ureidopropionase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| UPB1 | NM_016327.2:c.917- 1G>A | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| UPB1 | c.917-1G>A* | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908066 | NA | 51733 | UPB1 | umls:C1291512 | CLINVAR | NA | 0.480542884 | NA | UPB1 | 22 | 24500211 | G | A,C |
| rs34035085 | NA | 51733 | UPB1 | umls:C1291512 | CLINVAR | NA | 0.480542884 | NA | UPB1 | 22 | 24500256 | C | A,T |
| rs34035085 | 15385443 | 51733 | UPB1 | umls:C1291512 | UNIPROT | Our results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene. | 0.480542884 | 2004 | UPB1 | 22 | 24500256 | C | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000048 | Bifid scrotum | MP:0002670 | absent scrotum | missing the external sac of skin that encloses the testes |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0001319 | Neonatal hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002836 | Bladder exstrophy | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001319 | Neonatal hypotonia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002188 | Delayed CNS myelination | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002133 | Status epilepticus | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002023 | Anal atresia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002836 | Bladder exstrophy | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0002521 | Hypsarrhythmia | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000048 | Bifid scrotum | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1229 |
|---|---|
| Disease | beta-ureidopropionase deficiency |
| Case | (Waiting for update.) |