CYTOCHROME c OXIDASE III
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 9 |
OrphanetNr: | |
OMIM Id: |
516050
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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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001112) | Leber optic atrophy | 9 / 7739 | ||||
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(HPO:0001117) | Sudden loss of visual acuity | 6 / 7739 | ||||
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(HPO:0001129) | Large central visual field defect | 6 / 7739 | ||||
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(HPO:0001085) | Papilledema | 31 / 7739 | ||||
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(HPO:0000543) | Optic disc pallor | 67 / 7739 | ||||
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(HPO:0002315) | Headache | 175 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0003674) | Onset | 32 / 7739 | ||||
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(HPO:0001427) | Mitochondrial inheritance | 12 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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