ORPHA:3086
Autosomal dominant vitreoretinochoroidopathy
Synonyms: ADVIRC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant vitreoretinochoroidopathy | ADVIRC |
| fr | Vitréo-rétino-choroïdopathie autosomique dominante | = en |
| de | Vitreoretinochoroidopathie, autosomal-dominante | = en |
| es | Retinocoroidopatía vítrea autosómica dominante | = en |
| it | Vitreo-retino-coroidopatia autosomica dominante | = en |
| nl | Autosomaal dominante vitreoretinochoroïdopathie | = en |
| pt | Vitreo-retino-coroidopatia autossómica dominante | |
| pl | Autosomalna dominująca witreoretinochoroidopatia | = en |
| cs | Autozomálně dominantní vitreoretinochoroidopatie | = en |
| uk | Аутосомно-домінантна вітреоретинохоріоідеопатія | = en |
| zh | 常染色体显性遗传玻璃体视网膜脉络膜病 | = en |
| tr | Otozomal dominant vitreoretinokoroidopati | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193220 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0008662 | E | validated | |
| MeSH | C536352 | E | validated | |
| UMLS | C3888099 | E | validated | |
| GARD | 5507 | 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 (2):
- ORPHA:716441Rare isolated progressive vitreoretinopathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:519294Syndromic microspherophakia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BEST1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12703 | ENSG00000167995 | 607854 | 11q12.3 | bestrophin 1 | 18611979[PMID]_21072067[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 15452077[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | 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
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/3086
- This record as JSON: /data/d/3086.json