Coloboma of macula
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma of macula | |
| fr | Colobome maculaire | |
| de | Makulakolobom | |
| es | Coloboma macular | |
| it | Coloboma maculare | |
| nl | Coloboom van macula | Maculacoloboom |
| pt | Coloboma da mácula | |
| pl | Szczelina plamki | |
| cs | Kolobom makuly | |
| uk | Колобома макули | |
| zh | 黄斑缺损 | |
| tr | Makula kolobomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620731 | NTBT | validated | |
| ICD-10 | Q14.8 | NTBT | attributed | validated |
| ICD-11 | LA13.2 | E | specific | validated |
| MONDO | 0007351 | E | validated | |
| MeSH | C535968 | E | validated | |
| UMLS | C1852767 | E | validated | |
| GARD | 1436 | 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:717330Rare genetic isolated non-progressive predominantly macular disorder
rare genetic diseases - ORPHA:716419Rare isolated non-progressive predominantly macular disorder
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 / 100 000 | 6 / 100 000 | Worldwide | Value and class | Validated | 40672577[PMID]_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/98945
- This record as JSON: /data/d/98945.json