| H01427 | |
| H number | H01427 |
| Name | Mitochondrial disease |
| Description | Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For details, please refer to each entry. See also H00473 Mitochondrial respiratory chain deficiencies. |
| Other DBs | ICD-11: 5C53 ICD-10: E88 MeSH: D028361 |
| Reference | PMID:20301403 AUTHORS Chinnery PF TITLE Mitochondrial Disorders Overview JOURNAL GeneReviews (1993) |