eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pyruvate dehydrogenase complex deficiency | ||||
| Disease ID | 796 |
|---|---|
| Disease | pyruvate dehydrogenase complex deficiency |
| Definition | An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. |
| Synonym | ataxia with lactic acidosis ataxia with lactic acidosis i ataxia, intermittent, with abnormal pyruvate metabolism ataxia, intermittent, with pyruvate dehydrogenase deficiency ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency deficiency of alpha-carboxylase deficiency of alpha-ketoacid carboxylase deficiency of pyruvate decarboxylase deficiency of pyruvate decarboxylase (disorder) deficiency of pyruvate dehydrogenase (cytochrome) deficiency of pyruvic decarboxylase deficiency of pyruvic dehydrogenase deficiency of pyruvic dehydrogenase (disorder) deficiency, pdh deficiency, pdhc deficiency, pyruvate decarboxylase deficiency, pyruvate dehydrogenase intermittent ataxia with pyruvate dehydrogenase deficiency pdh pdh - pyruvate dehydrogenase deficiency pdh deficiency pdhc defic dis pdhc deficiency pdhc deficiency disease pyruvate decarboxylase deficiency pyruvate dehydrogenase complex defic dis pyruvate dehydrogenase complex deficiency (disorder) pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase complex deficiency disease [disease/finding] pyruvate dehydrogenase deficiency pyruvate dehydrogenase deficiency (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0034345 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0001125 | lactic acidosis | 2 C0751651 | mitochondrial disorder | 1 C0751651 | mitochondrial disorders | 1 C0023529 | periventricular leukomalacia | 1 C0002871 | anemia | 1 C0013421 | dystonia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 415 | ARSE | 2.554 | DISEASES 285489 | DOK7 | 2.886 | DISEASES 1892 | ECHS1 | 4.279 | DISEASES 2316 | FLNA | 1.613 | DISEASES 26275 | HIBCH | 4.936 | DISEASES 27247 | NFU1 | 3.605 | DISEASES 5091 | PC | 5.016 | DISEASES 5160 | PDHA1 | 6.676 | DISEASES 6342 | SCP2 | 3.043 | DISEASES 6513 | SLC2A1 | 3.655 | DISEASES 6430 | SRSF5 | 3.458 | DISEASES 6888 | TALDO1 | 2.915 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 796 |
|---|---|
| Disease | pyruvate dehydrogenase complex deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0003128 | Lactic acidosis | 2 HP:0001941 | acidemia | 2 HP:0002268 | Paroxysmal dystonia | 1 HP:0001332 | Dystonia | 1 HP:0006970 | Periventricular leukomalacia | 1 HP:0001903 | Anemia | 1 |
| Disease ID | 796 |
|---|---|
| Disease | pyruvate dehydrogenase complex deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (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 | 796 |
|---|---|
| Disease | pyruvate dehydrogenase complex deficiency |
| Case | (Waiting for update.) |