Autosomal dominant optic atrophy, classic type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Autosomal dominant optic atrophy, Kjer type Kjer disease |
| Number of Symptoms | 16 |
| OrphanetNr: | 98673 |
| OMIM Id: |
165500
605293 610708 |
| ICD-10: |
H47.2 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
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 optic atrophy
-Rare eye disease -Rare genetic disease Mitochondrial oxidative phosphorylation disorder with no known mechanism -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000642) | Red-green dyschromatopsia | 25 / 7739 | ||||
|
|
(HPO:0000576) | Centrocecal scotoma | 6 / 7739 | ||||
|
|
(HPO:0000650) | Abnormal amplitude of pattern reversal visual evoked potentials | 2 / 7739 | ||||
|
|
(HPO:0007663) | Reduced visual acuity | 100 / 7739 | ||||
|
|
(HPO:0000590) | Progressive external ophthalmoplegia | 48/104 [HPO:probinson] | 23 / 7739 | |||
|
|
(HPO:0000666) | Horizontal nystagmus | 5% [HPO:probinson] | 32 / 7739 | |||
|
|
(HPO:0000552) | Tritanomaly | 6 / 7739 | ||||
|
|
(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
|
|
(HPO:0000486) | Strabismus | 10% [HPO:probinson] | 576 / 7739 | |||
|
|
(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
|
|
(HPO:0000603) | Central scotoma | 18 / 7739 | ||||
|
|
(HPO:0001251) | Ataxia | 31/104 [HPO:probinson] | 413 / 7739 | |||
|
|
(HPO:0003701) | Proximal muscle weakness | 37/104 [HPO:probinson] | 105 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
|
|
(HPO:0003587) | Insidious onset | 11 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|