eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| alpha-ketoglutarate dehydrogenase deficiency | ||||
| Disease ID | 1856 |
|---|---|
| Disease | alpha-ketoglutarate dehydrogenase deficiency |
| Synonym | 2 alpha ketoglutarate dehydrogenase deficiency 2-ketoglutarate dehydrogenase deficiency alpha-kgd deficiency oxoglutaric aciduria oxoglutaricaciduria |
| Orphanet | |
| OMIM | |
| UMLS | C2752074 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1856 |
|---|---|
| Disease | alpha-ketoglutarate dehydrogenase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0002151 | Increased serum lactate HP:0001252 | Hypotonia HP:0001942 | Metabolic acidosis HP:0004902 | Congenital lactic acidosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1856 |
|---|---|
| Disease | alpha-ketoglutarate dehydrogenase deficiency |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001942 | Metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| 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:0002151 | Increased serum lactate | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| 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:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0004902 | Congenital lactic acidosis | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0002151 | Increased serum lactate | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| Disease ID | 1856 |
|---|---|
| Disease | alpha-ketoglutarate dehydrogenase deficiency |
| Case | (Waiting for update.) |