ORPHA:98672
Autosomal dominant optic atrophy
Synonyms: ADOA · DOA
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant optic atrophy | ADOA · DOA |
| fr | Atrophie optique autosomique dominante | ADOA · AOAD |
| de | Optikusatrophie, autosomal-dominante | = en |
| es | Atrofia óptica autosómica dominante | AOAD · AOD |
| it | Atrofia ottica autosomica dominante | DOA |
| nl | Autosomaal dominante opticusatrofie | ADOA · Autosomaal dominante optische atrofie · DOA |
| pt | Neuropatia óptica autossómica dominante | |
| pl | Autosomalny dominujący zanik nerwu wzrokowego | DOA · ADOA |
| cs | Autozomálně dominantní atrofie optiku | DOA |
| uk | Аутосомно-домінантна атрофія зорового нерва | = en |
| zh | 常染色体显性遗传视神经萎缩 | = en |
| tr | Otozomal dominant optik atrofi | DOA · ADOA |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020250 | E | validated | |
| MeSH | D029241 | E | validated | |
| UMLS | C4551508 | E | validated | |
| GARD | 11972 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98671Hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Denmark | Value and class | Validated | 22776096[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | United Kingdom | Value and class | Not yet validated | 20417570[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | Worldwide | Value and class | Not yet validated | 22776096[PMID] |
| Point prevalence | 6-9 / 10 000 | 83 / 100 000 | Specific population | Value and class | Validated | 21745197[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
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/98672
- This record as JSON: /data/d/98672.json