eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dicarboxylic aminoaciduria | ||||
| Disease ID | 1634 |
|---|---|
| Disease | dicarboxylic aminoaciduria |
| Definition | Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. |
| Synonym | dcbxa dicarboxylic amino aciduria dicarboxylic aminoaciduria syndrome dicarboxylic aminoaciduria syndrome (disorder) dicarboxylicamino aciduria dicarboxylicaminoaciduria glutamate and aspartate transport defect glutamate aspartate transport defect glutamate-aspartate transport defect inborn error of glutamic and aspartate transport |
| Orphanet | |
| OMIM | |
| UMLS | C1857253 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:1) SLC1A1 | 9p24.2 |
| Disease ID | 1634 |
|---|---|
| Disease | dicarboxylic aminoaciduria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1634 |
|---|---|
| Disease | dicarboxylic aminoaciduria |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587777696 | NA | 6505 | SLC1A1 | umls:C1857253 | CLINVAR | NA | 0.440271442 | NA | SLC1A1 | 9 | 4585316 | C | T |
| rs587777697 | NA | 6505 | SLC1A1 | umls:C1857253 | CLINVAR | NA | 0.440271442 | NA | SLC1A1 | 9 | 4576754 | TCA | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003162 | Fasting hypoglycemia | MP:0000189 | hypoglycemia | low levels of plasma glucose in the circulating blood; this generally refers to a pathological state |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003162 | Fasting hypoglycemia | MP:0011468 | abnormal urine amino acid level | any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group |
| 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:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1634 |
|---|---|
| Disease | dicarboxylic aminoaciduria |
| Case | (Waiting for update.) |