Decreased activity of cytochrome C oxidase in muscle tissue
Symptom Information:
Symptom ID: | HPO:0003688 | |||
Synonyms: |
|
|||
Quality: | ||||
Cross references: |
|
|||
Is a (Direct Parents): |
|
|||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the musculature(HPO:0003011) Muscle abnormality related to mitochondrial dysfunction(HPO:0003800) Decreased activity of cytochrome C oxidase in muscle tissue(HPO:0003688) MedDRA: |
|||
Database Frequency: | 20 / 7739 | |||
Resource: |
All diseases associated with this symptom:
Autosomal dominant progressive external ophthalmoplegia | (Orphanet:254892) |
Autosomal recessive progressive external ophthalmoplegia | (Orphanet:254886) |
Autosomal recessive spastic paraplegia type 7 | (Orphanet:99013) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Combined oxidative phosphorylation defect type 8 | (Orphanet:319504) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | (Orphanet:363694) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
MERRF | (Orphanet:551) |
Mitochondrial DNA deletion syndrome with progressive myopathy | (Orphanet:352470) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
Mitochondrial neurogastrointestinal encephalomyopathy | (Orphanet:298) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
Necrotizing encephalomyelopathy, subacute, of Leigh, adult | (OMIM:161700) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 | (OMIM:609283) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 | (OMIM:609286) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 | (OMIM:610131) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |