eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 2-hydroxyglutaric aciduria | ||||
| Disease ID | 1321 |
|---|---|
| Disease | 2-hydroxyglutaric aciduria |
| Definition | A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified based on the steroisomeric composition of the elevated alpha-hydroxyglutaric acid metabolites. Additionally, the disease may be categorized by the genetic mutation that is causative. Genes associated with 2-hydroxyglutaric aciduria are L2HGDH, D2HGDH, IDH2, and/or SLC25A1. Generally, there is nervous system involvement, but the clinical manifestations are variable and are dependent on the specific type of defect present. |
| Synonym | 2-hga 2-hydroxyglutaric aciduria (disorder) 2-hydroxyglutaricaciduria combined d-2- and l-2 -hydroxyglutaric aciduria combined d-2- and l-2-hydroxyglutaric aciduria d2l2ad l-2-hydroxyglutaric acidemia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2746066 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0019562 | hippel-lindau disease | 1 C0019562 | von hippel-lindau disease | 1 C0019562 | lindau disease | 1 C0334576 | gliomatosis cerebri | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 137872 | ADHFE1 | 3.469 | DISEASES 820 | CAMP | 1.216 | DISEASES 833 | CARS | 1.712 | DISEASES 875 | CBS | 1.189 | DISEASES 1025 | CDK9 | 1.439 | DISEASES 55862 | ECHDC1 | 3.181 | DISEASES 2903 | GRIN2A | 1.468 | DISEASES 138050 | HGSNAT | 3.261 | DISEASES 3155 | HMGCL | 2.844 | DISEASES 3418 | IDH2 | 4.595 | DISEASES 3908 | LAMA2 | 1.761 | DISEASES 4191 | MDH2 | 3.034 | DISEASES 23218 | NBEAL2 | 2.367 | DISEASES 7080 | NKX2-1 | 1.075 | DISEASES 5053 | PAH | 1.882 | DISEASES 5091 | PC | 3.107 | DISEASES 5745 | PTH1R | 1.761 | DISEASES 146713 | RBFOX3 | 1.165 | DISEASES 1757 | SARDH | 3.039 | DISEASES 51097 | SCCPDH | 4.164 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1321 |
|---|---|
| Disease | 2-hydroxyglutaric aciduria |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1321 |
|---|---|
| Disease | 2-hydroxyglutaric aciduria |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267606759 | 16081310 | 728294 | D2HGDH | umls:C2746066 | BeFree | We report a set of 412-year-old monozygotic (MZ) female twins with D-2-hydroxyglutaric aciduria who are shown to be compound heterozygotes for c.326-327dupTC, p.Glu110ArgfsX19, and c.1123G-->T, p.Asp375Tyr mutations in the D-2-hydroxyglutarate dehydrogenase gene, but who have remarkably different clinical phenotypes. | 0.120814326 | 2005 | D2HGDH | 2 | 241751371 | G | A,T |
| rs368647424 | NA | 6576 | SLC25A1 | umls:C2746066 | CLINVAR | NA | 0.360271442 | NA | SLC25A1 | 22 | 19177779 | C | T |
| rs431905509 | NA | 6576 | SLC25A1 | umls:C2746066 | CLINVAR | NA | 0.360271442 | NA | SLC25A1 | 22 | 19176222 | G | C,A |
| rs431905510 | NA | 6576 | SLC25A1 | umls:C2746066 | CLINVAR | NA | 0.360271442 | NA | SLC25A1 | 22 | 19176221 | C | T,G |
| rs483352910 | NA | 6576 | SLC25A1 | umls:C2746066 | CLINVAR | NA | 0.360271442 | NA | SLC25A1 | 22 | 19176421 | G | A |
| rs483352911 | NA | 6576 | SLC25A1 | umls:C2746066 | CLINVAR | NA | 0.360271442 | NA | SLC25A1 | 22 | 19177120 | CTTGTTCCCG | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1321 |
|---|---|
| Disease | 2-hydroxyglutaric aciduria |
| Case | (Waiting for update.) |