Autosomal dominant progressive external ophthalmoplegia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
adPEO |
| Number of Symptoms | 40 |
| OrphanetNr: | 254892 |
| OMIM Id: |
157640
609283 609286 610131 613077 |
| ICD-10: |
H49.4 |
| 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: |
Multiple mitochondrial DNA deletion syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000815) | Hypergonadotropic hypogonadism | 48 / 7739 | ||||
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(HPO:0008209) | Premature ovarian failure | 28 / 7739 | ||||
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(HPO:0000869) | Secondary amenorrhea | 42 / 7739 | ||||
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(HPO:0000786) | Primary amenorrhea | 61 / 7739 | ||||
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(HPO:0000029) | Testicular atrophy | 13 / 7739 | ||||
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0000590) | Progressive external ophthalmoplegia | 23 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0006858) | Impaired distal proprioception | 4 / 7739 | ||||
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(HPO:0002322) | Resting tremor | 14 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0003390) | Sensory axonal neuropathy | 26 / 7739 | ||||
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(HPO:0002548) | Parkinsonism with favorable response to dopaminergic medication | 13 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | 327 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0006886) | Impaired distal vibration sensation | 8 / 7739 | ||||
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(HPO:0002063) | Rigidity | 92 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0000716) | Depression | 99 / 7739 | ||||
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(HPO:0002067) | Bradykinesia | 62 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0002578) | Gastroparesis | 11 / 7739 | ||||
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(HPO:0002151) | Increased serum lactate | 92 / 7739 | ||||
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(HPO:0003689) | Multiple mitochondrial DNA deletions | 12 / 7739 | ||||
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(HPO:0003458) | EMG: myopathic abnormalities | 38 / 7739 | ||||
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(HPO:0003548) | Subsarcolemmal accumulations of abnormally shaped mitochondria | 9 / 7739 | ||||
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(HPO:0003323) | Progressive muscle weakness | 17 / 7739 | ||||
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(HPO:0003546) | Exercise intolerance | 62 / 7739 | ||||
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(HPO:0003688) | Decreased activity of cytochrome C oxidase in muscle tissue | 20 / 7739 | ||||
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(HPO:0003200) | Ragged-red muscle fibers | 37 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0003690) | Limb muscle weakness | 41 / 7739 | ||||
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(HPO:0003713) | Muscle fiber necrosis | 8 / 7739 | ||||
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(HPO:0003557) | Increased variability in muscle fiber diameter | 24 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0003812) | Phenotypic variability | 129 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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