ORPHA:1215
Autosomal dominant optic atrophy plus syndrome
Synonyms: ADOA+ · DOA+ · Optic atrophy-deafness-polyneuropathy-myopathy syndrome · Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant optic atrophy plus syndrome | ADOA+ · DOA+ · Optic atrophy-deafness-polyneuropathy-myopathy syndrome · Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome |
| fr | Atrophie optique autosomique dominante plus | ADOA+ · AOD+ · DOA+ · Syndrome d'atrophie optique-surdité-polyneuropathie-myopathie |
| de | Optikusatrophie plus-Syndrom, autosomal-dominantes | ADOA+ · DOA+ · Optikusatrophie-Taubheit-Polyneuropathie-Myopathie-Syndrom |
| es | Síndrome de atrofia óptica plus autosómica dominante | ADOA+ · DOA+ · Síndrome de atrofia óptica-hipoacusia-polineuropatía-miopatía · Síndrome de atrofia óptica-sordera-polineuropatía-miopatía |
| it | Sindrome atrofia ottica autosomica dominante plus | ADOA+ · Sindrome atrofia ottica-sordità-polineuropatia-miopatia · Atrofia ottica - sordità - polineuropatia - miopatia · DOA+ |
| nl | Autosomaal dominante opticusatrofie plus-syndroom | Opticusatrofie - doofheid - polyneuropathie - myopathie-syndroom · Opticusatrofie - gehoorverlies - polyneuropathie - myopathie-syndroom · ADOA+ · DOA+ |
| pt | Síndrome de atrofia óptica plus autossómica dominante | Atrofia óptica-surdez-neuropatia |
| pl | Autosomalny dominujący zespół zaniku nerwu wzrokowego plus | Atrofia nerwu wzrokowego - głuchota- polineuropatia - miopatia · DOA+ · Autosomalny dominujący zespół atrofii nerwu wzrokowego plus |
| cs | Autozomálně dominantní optická atrofie plus | DOA+ · Syndrom zahrnující atrofii optiku, hluchotu, polyneuropatii a myopatii |
| uk | Синдром аутосомно-домінантної атрофії зорового нерва плюс | DOA+ · Синдром атрофії зорового нерва-глухоти-полінейропатії-міопатії · Синдром атрофії зорового нерва - втрати слуху - полінейропатії - міопатії |
| zh | 常染色体显性遗传视神经萎缩加综合征 | 视神经萎缩-听力丧失-多发性神经病-肌病综合征 |
| tr | Otozomal dominant optik atrofi plus sendrom | DOA + · Optik atrofi-sağırlık-polinöropati-miyopati sendromu · Optik atrofi-işitme kaybı-polinöropati-miyopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125250 | BTNT | validated | |
| OMIM | 165199 | BTNT | validated | |
| OMIM | 616648 | BTNT | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 9C40.8 | NTBT | index | validated |
| MONDO | 0014720 | E | validated | |
| UMLS | C3276549 | E | validated | |
| GARD | 5243 | 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:140456Autosomal dominant hereditary axonal motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98672Autosomal dominant optic atrophy
rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders - ORPHA:254807Multiple mitochondrial DNA deletion syndrome
rare inborn errors of metabolism; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3212Autosomal dominant optic atrophy and congenital deafness moved to · inactive
- ORPHA:3349Treft-Sanborn-Carey syndrome moved to · inactive
- ORPHA:255117OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OPA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8140 | ENSG00000198836 | 605290 | 3q29 | OPA1 mitochondrial dynamin like GTPase | 18158317[PMID]_22776096[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | 22197506[PMID]_22776096[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
26 annotations · validated 2021-04-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0000529 | Progressive visual loss | |
| Frequent (79-30%) | ||
| HP:0020119 | Abnormal retinal nerve fiber layer morphology | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0004463 | Absent brainstem auditory responses | |
| HP:0001488 | Bilateral ptosis | |
| HP:0100285 | EMG: impaired neuromuscular transmission | |
| HP:0012378 | Fatigue | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0003198 | Myopathy | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0001251 | Ataxia | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0000763 | Sensory neuropathy | |
| HP:0001258 | Spastic paraplegia | |
| HP:0012511 | Temporal optic disc pallor | |
| Very rare (<4-1%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002076 | Migraine | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22197506[PMID]_24138050[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1215
- This record as JSON: /data/d/1215.json