ORPHA:250932
Autosomal dominant optic atrophy and peripheral neuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant optic atrophy and peripheral neuropathy | |
| fr | Atrophy optique autosomique dominante avec neuropathie périphérique | |
| de | Optikusatrophie und periphere Neuropathie, autosomal-dominant | |
| es | Atrofia óptica autosómica dominante y neuropatía periférica | |
| it | Atrofia ottica autosomica dominante con neuropatia periferica | |
| nl | Autosomaal dominante opticusatrofie en perifere neuropathie | Autosomaal dominante optische atrofie en perifere neuropathie |
| pt | Atrofia óptica autossómica dominante e neuropatia periférica | |
| pl | Autosomalna dominująca atrofia nerwu wzrokowego z neuropatią obwodową | |
| cs | Autozomálně dominantní atrofie optiku a periferní neuropatie | |
| uk | Аутосомно-домінантна атрофія зорового нерва та периферична нейропатія | |
| zh | 常染色体显性遗传性视神经萎缩与周围神经病变 | |
| tr | Otozomal dominant optik atrofi ve periferik nöropati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 9C40.B1 | NTBT | attributed | validated |
| MONDO | 0016646 | E | validated | |
| UMLS | C4273829 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98672Autosomal dominant optic atrophy
rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders - ORPHA:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250932
- This record as JSON: /data/d/250932.json