Coloboma of eye lens
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma of eye lens | |
| fr | Colobome du cristallin | |
| de | Linsenkolobom | |
| es | Coloboma de cristalino | |
| it | Coloboma del cristallino | |
| nl | Coloboom van ooglens | |
| pt | Coloboma do cristalino | |
| pl | Szczelina soczewki oka | |
| cs | Kolobom čočky | |
| uk | Колобома кришталика ока | |
| zh | 晶状体缺损 | |
| tr | Göz lensi kolobomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620731 | NTBT | validated | |
| ICD-10 | Q12.2 | E | specific | validated |
| ICD-11 | LA12.0 | E | specific | validated |
| MONDO | 0020355 | E | validated | |
| UMLS | C0344516 | E | validated | |
| GARD | 1433 | 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:183607Genetic lens and zonula anomaly
rare genetic diseases - ORPHA:98639Rare lens disease
rare ophthalmic disorders
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 / 1 000 000 | 0.1 / 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/98943
- This record as JSON: /data/d/98943.json