MYOGLOBINURIA, RECURRENT
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 9 |
| OrphanetNr: | |
| OMIM Id: |
550500
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Mitochondrial inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0003652) | Recurrent myoglobinuria | 2 / 7739 | ||||
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(HPO:0008305) | Exercise-induced myoglobinuria | 7 / 7739 | ||||
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(HPO:0003200) | Ragged-red muscle fibers | 37 / 7739 | ||||
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(HPO:0001427) | Mitochondrial inheritance | 12 / 7739 | ||||
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(OMIM) | Multiple deletions of muscle mitochondrial DNA | 1 / 7739 | ||||
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(OMIM) | Ragged-red limb-muscle fibers | 1 / 7739 | ||||
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(OMIM) | Recurrent exertional or alcohol-induced myoglobinuria | 1 / 7739 | ||||
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(OMIM) | Abnormal muscle mitochondria containing paracrystalline inclusions and increased glycogen particles | 1 / 7739 | ||||
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(OMIM) | Serum lactate and pyruvate normal at rest but elevated by aerobic exercise | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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