Familial cavitary optic disc anomaly
Synonyms: Familial CODA
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial cavitary optic disc anomaly | Familial CODA |
| fr | Excavation papillaire familiale | |
| de | Familiäre kavitäre Papillenanomalie | Familiäre CODA |
| es | Anomalía cavitaria familiar del disco óptico | CODA familiar |
| it | Anomalia cavitaria familiare del disco ottico | |
| nl | Familiale cavitaire papilafwijking | Familiale CODA |
| pt | Anomalia do disco óptico cavitário familiar | |
| pl | Rodzinna jamista anomalia tarczy nerwu wzrokowego | Rodzinna CODA |
| cs | Familiární dutinková anomálie papily | Familial CODA · Familiární CODA |
| uk | Сімейна порожнинна аномалія диска зорового нерва | Сімейна CODA |
| zh | 家族性空洞性视盘异常 | 家族性CODA |
| tr | Ailesel kaviter optik disk anomalisi | Ailesel CODA |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611543 | E | validated | |
| ICD-10 | Q14.2 | NTBT | attributed | validated |
| ICD-11 | LA13.7Y | NTBT | attributed | validated |
| MONDO | 0012687 | E | validated | |
| UMLS | C1969063 | 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 (2):
- ORPHA:519333Congenital optic disc excavation
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522514Congenital optic disc excavation of genetic origin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMP19 | Disease-causing germline mutation(s) in | Assessed | HGNC:7165 | ENSG00000123342 | 601807 | 12q13.2 | matrix metallopeptidase 19 | 25581579[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25581579[PMID] |
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 25581579[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464760
- This record as JSON: /data/d/464760.json