Autosomal dominant neovascular inflammatory vitreoretinopathy
Synonyms: ADNIV
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant neovascular inflammatory vitreoretinopathy | ADNIV |
| fr | Vitréorétinopathie inflammatoire néovasculaire autosomique dominante | = en |
| de | Vitreoretinopathie, inflammatorische neovaskuläre, autosomal-dominante | = en |
| es | Vitreorretinopatía inflamatoria neovascular autosómica dominante | = en |
| it | Vitreoretinopatia infiammatoria neovascolare autosomica dominante | = en |
| nl | Autosomaal dominante neovasculaire inflammatoire vitreoretinopathie | = en |
| pt | Vitreorretinopatia neovascular inflamatória autossómica dominante | |
| pl | Autosomalna dominująca neowaskularna witreoretinopatia zapalna | = en |
| cs | Autozomálně dominantní neovaskulární inflamatorní vitreoretinopatie | = en |
| uk | Аутосомно-домінантна неоваскулярна запальна вітреоретинопатія | = en |
| zh | 新生血管性炎性玻璃体视网膜病变 | = en |
| tr | Otozomal dominant neovasküler inflamatuar vitreoretinopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193235 | E | validated | |
| ICD-10 | H35.2 | NTBT | attributed | validated |
| ICD-11 | 9B72.Y | NTBT | attributed | validated |
| MONDO | 0100450 | E | validated | |
| UMLS | C4721549 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:717345Rare genetic isolated progressive retinal vasculopathy
rare genetic diseases - ORPHA:716466Rare isolated progressive retinal vasculopathy
rare ophthalmic disorders - ORPHA:716441Rare isolated progressive vitreoretinopathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAPN5 | Disease-causing germline mutation(s) in | Assessed | HGNC:1482 | ENSG00000149260 | 602537 | 11q13.5 | calpain 5 | 23055945[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 99 cases | Worldwide | Case(s) | Validated | 23055945[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329211
- This record as JSON: /data/d/329211.json