Autosomal dominant optic atrophy plus syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DOA+ Optic atrophy-deafness-polyneuropathy-myopathy |
| Number of Symptoms | 17 |
| OrphanetNr: | 1215 |
| OMIM Id: |
165199
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| ICD-10: |
H47.2 H90.3 |
| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant hereditary axonal motor and sensory neuropathy
-Rare genetic disease -Rare neurologic disease Autosomal dominant optic atrophy -Rare eye disease -Rare genetic disease Multiple mitochondrial DNA deletion syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000505) | Visual impairment | Frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000572) | Visual loss | 272 / 7739 | ||||
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(HPO:0000649) | Abnormality of visual evoked potentials | Occasional [Orphanet] | 34 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0000642) | Red-green dyschromatopsia | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000408) | Progressive sensorineural hearing impairment | 28 / 7739 | ||||
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(HPO:0003134) | Abnormality of peripheral nerve conduction | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0002166) | Impaired vibration sensation in the lower limbs | 26 / 7739 | ||||
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(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0007021) | Pain insensitivity | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0002522) | Areflexia of lower limbs | 16 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Nerve conduction velocities may be normal or mildly decreased | 1 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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