eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| l-2-hydroxyglutaric aciduria | ||||
| Disease ID | 723 |
|---|---|
| Disease | l-2-hydroxyglutaric aciduria |
| Synonym | l-2(oh) glutaric aciduria l-2(oh) glutaric aciduria (disorder) l-2-hga l-2-hydroxy-glutaric aciduria l-2-hydroxy-glutaric aciduria (disorder) l-2-hydroxyglutaric aciduria (disorder) l2hga |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1855995 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0019562 | von hippel-lindau disease | 1 C0019562 | hippel-lindau disease | 1 C0221355 | macrocephaly | 1 C0334576 | gliomatosis cerebri | 1 C0019562 | lindau disease | 1 C0014544 | epilepsy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 820 | CAMP | 1.409 | DISEASES 833 | CARS | 1.905 | DISEASES 875 | CBS | 1.381 | DISEASES 1025 | CDK9 | 1.631 | DISEASES 55862 | ECHDC1 | 3.373 | DISEASES 3155 | HMGCL | 3.036 | DISEASES 3418 | IDH2 | 2.384 | DISEASES 3908 | LAMA2 | 1.953 | DISEASES 4191 | MDH2 | 3.227 | DISEASES 23218 | NBEAL2 | 2.559 | DISEASES 7080 | NKX2-1 | 1.268 | DISEASES 5053 | PAH | 2.075 | DISEASES 5091 | PC | 2.386 | DISEASES 146713 | RBFOX3 | 1.357 | DISEASES 51097 | SCCPDH | 4.356 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) L2HGDH | 14q21.3 |
| Disease ID | 723 |
|---|---|
| Disease | l-2-hydroxyglutaric aciduria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0002071 | Abnormality of extrapyramidal motor function HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0004375 | Neoplasm of the nervous system HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0010864 | Intellectual disability, severe HP:0000256 | Macrocephaly HP:0002383 | Encephalitis HP:0002357 | Dysphasia HP:0001252 | Muscular hypotonia HP:0006887 | Intellectual disability, progressive HP:0001285 | Spastic tetraparesis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 723 |
|---|---|
| Disease | l-2-hydroxyglutaric aciduria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118204020 | NA | 79944 | L2HGDH | umls:C1855995 | CLINVAR | NA | 0.362171535 | NA | L2HGDH | 14 | 50269164 | G | A |
| rs118204021 | NA | 79944 | L2HGDH | umls:C1855995 | CLINVAR | NA | 0.362171535 | NA | L2HGDH | 14 | 50302994 | C | T |
| rs267607206 | NA | 79944 | L2HGDH | umls:C1855995 | CLINVAR | NA | 0.362171535 | NA | L2HGDH | 14 | 50302132 | T | C |
| rs387907013 | NA | 79944 | L2HGDH | umls:C1855995 | CLINVAR | NA | 0.362171535 | NA | L2HGDH | 14 | 50267814 | G | A |
| rs786200869 | NA | 79944 | L2HGDH | umls:C1855995 | CLINVAR | NA | 0.362171535 | NA | L2HGDH | 14 | 50265439 | A | - |
| rs786200870 | NA | 79944 | L2HGDH | umls:C1855995 | CLINVAR | NA | 0.362171535 | NA | L2HGDH | 14 | 50269162 | C | A |
| rs797045678 | NA | 79944 | L2HGDH | umls:C1855995 | CLINVAR | NA | 0.362171535 | NA | L2HGDH | 14 | 50294190 | T | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0006887 | Intellectual disability, progressive | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0004375 | Neoplasm of the nervous system | MP:0010287 | increased reproductive system tumor incidence | greater than the expected number of tumors originating in the reproductive system in a given population in a given time period |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0006887 | Intellectual disability, progressive | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002383 | Encephalitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0004375 | Neoplasm of the nervous system | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001250 | Seizures | 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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001285 | Spastic tetraparesis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002357 | Dysphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | 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:0002071 | Abnormality of extrapyramidal motor function | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 723 |
|---|---|
| Disease | l-2-hydroxyglutaric aciduria |
| Case | (Waiting for update.) |