Coloboma of choroid and retina
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma of choroid and retina | |
| fr | Colobome choriorétinien | |
| de | Kolobom der Chorioidea und Retina | |
| es | Coloboma corio-retiniano | |
| it | Coloboma corioretinico | |
| nl | Coloboom van choroïd en retina | |
| pt | Coloboma da coróide e retina | |
| pl | Szczelina błony naczyniowej i siatkówki | |
| cs | Kolobom sítnice a choroidey | |
| uk | Колобома судинної оболонки та сітківки | |
| zh | 脉络膜和视网膜缺损 | |
| tr | Koroid ve retina kolobomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120200 | NTBT | validated | |
| OMIM | 620731 | NTBT | validated | |
| ICD-10 | Q14.8 | NTBT | attributed | validated |
| ICD-11 | LA13.1 | E | specific | validated |
| MONDO | 0020354 | E | validated | |
| UMLS | C4708599 | 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 (4):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:717311Rare genetic isolated non-progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:716296Rare isolated non-progressive predominantly chorioretinal disorder
rare ophthalmic disorders
No children.
Genes
5 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] |
| ACTG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:144 | ENSG00000184009 | 102560 | 17q25.3 | actin gamma 1 | 28493397[PMID] |
| PAX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 12721955[PMID]_16604056[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98942
- This record as JSON: /data/d/98942.json