Coloboma of iris
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma of iris | |
| fr | Colobome de l'iris | Colobome irien |
| de | Iriskolobom | |
| es | Coloboma de iris | |
| it | Coloboma dell'iride | |
| nl | Coloboom van iris | Iriscoloboom |
| pt | Coloboma da íris | |
| pl | Szczelina tęczówki | |
| cs | Kolobom duhovky | |
| uk | Колобома райдужки | |
| zh | 虹膜缺损 | |
| tr | İris 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 | Q13.0 | E | specific | validated |
| ICD-11 | LA11.4 | E | specific | validated |
| MONDO | 0020356 | E | validated | |
| UMLS | C0266551 | E | validated | |
| GARD | 1434 | E | validated | |
| MedDRA | 10052642 | 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:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.5 / 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/98944
- This record as JSON: /data/d/98944.json