Multiple mitochondrial DNA deletions
Symptom Information:
Symptom ID: | HPO:0003689 | |||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) Depletion of mitochondrial DNA in muscle tissue(HPO:0009141) Multiple mitochondrial DNA deletions(HPO:0003689) MedDRA: |
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Database Frequency: | 12 / 7739 | |||
Resource: |
All diseases associated with this symptom:
Autosomal dominant progressive external ophthalmoplegia | (Orphanet:254892) |
Autosomal recessive progressive external ophthalmoplegia | (Orphanet:254886) |
Mitochondrial DNA deletion syndrome with progressive myopathy | (Orphanet:352470) |
Mitochondrial neurogastrointestinal encephalomyopathy | (Orphanet:298) |
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) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 | (OMIM:613077) |
Pearson syndrome | (Orphanet:699) |
Recessive mitochondrial ataxia syndrome | (Orphanet:94125) |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis | (Orphanet:70595) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |