Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | |
| fr | Syndrome de papille optique colobomateuse-atrophie maculaire-choriorétinopathie | |
| de | Kolobomatöser Sehnervenkopf-Makula-Atrophie-Chorioretinopathie-Syndrom | |
| es | Síndrome de disco óptico colobomatoso-atrofia macular-coriorretinopatía | |
| it | Sindrome coloboma del disco ottico-atrofia maculare-corioretinopatia | |
| nl | Colobomateuze optische papil - maculaire atrofie - chorioretinopathie-syndroom | |
| pt | Síndrome de anomalias colobomatosas do disco óptico-atrofia macular-coriorretinopatia | |
| pl | Zespół szczeliny tarczy nerwu wzrokowego, zaniku plamki i chorioretinopatii | |
| cs | Syndrom zahrnující kolobomatózní discus opticus, makulární atrofii a chorioretinopatii | |
| uk | Синдром колобоматозного диска зорового нерва-макулярна атрофія-хоріоретинопатія | |
| zh | 球状视盘-黄斑萎缩-脉络膜视网膜病变综合征 | |
| tr | Kolobomatöz optik disk-maküler atrofi-korioretinopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212550 | E | validated | |
| ICD-10 | Q14.8 | NTBT | attributed | validated |
| MONDO | 0008927 | E | validated | |
| UMLS | C4225424 | 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 (1):
- ORPHA:519345Rare disorder with optic disc malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:10892 | ENSG00000184302 | 606326 | 14q23.1 | SIX homeobox 6 | 24702266[PMID]_23167593[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24702266[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24702266[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/435930
- This record as JSON: /data/d/435930.json