Coloboma of optic disc
Synonyms: Coloboma of optic papilla
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma of optic disc | Coloboma of optic papilla |
| fr | Colobome papillaire | |
| de | Papillenkolobom | Kolobom der Papilla nervi optici |
| es | Coloboma del disco óptico | Coloboma de las papilas ópticas |
| it | Coloboma del disco ottico | |
| nl | Coloboom van papil | Coloboom van papilla nervi optici |
| pt | Coloboma do disco óptico | Coloboma da papila óptica |
| pl | Szczelina tarczy nerwu wzrokowego | Szczelina brodawki nerwu wzrokowego |
| cs | Kolobom papily zrakového nervu | = en |
| uk | Колобома диска зорового нерва | Колобома сосочка зорового нерва |
| zh | 视盘缺损 | 视乳头缺损 |
| tr | Optik disk kolobomu | Optik papilla koloboması |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620731 | NTBT | validated | |
| ICD-10 | Q14.2 | NTBT | inclusion | validated |
| ICD-11 | LA13.76 | E | specific | validated |
| UMLS | C0155299 | E | validated | |
| GARD | 1438 | 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
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FZD5 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4043 | ENSG00000163251 | 601723 | 2q33.3 | frizzled class receptor 5 | 26908622[PMID] |
| SALL2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10526 | ENSG00000165821 | 602219 | 14q11.2 | spalt like transcription factor 2 | 24412933[PMID] |
| ABCB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:47 | ENSG00000115657 | 605452 | 2q35 | ATP binding cassette subfamily B member 6 (LAN blood group) | 22226084[PMID] |
| PAX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 12721955[PMID]_16604056[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6 / 100 000 | Worldwide | Value and class | 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/98947
- This record as JSON: /data/d/98947.json