Congenital microcoria
Synonyms: Congenital miosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital microcoria | Congenital miosis |
| fr | Microcorie congénitale | Myosis congénital |
| de | Mikrokorie, kongenitale | Miosis, kongenitale |
| es | Microcoria congénita | Miosis congénita |
| it | Microcoria congenita | Miosi congenita |
| nl | Congenitale microcorie | Miosis, congenitaal |
| pt | Microcoria congénita | Miose congénita |
| pl | Wrodzone zwężenie źrenicy | Mioza wrodzona |
| cs | Vrozená mikrokorie | Vrozená mióza |
| uk | Вроджена мікрокорія | Вроджений міоз |
| zh | 先天性小瞳症 | 先天性瞳孔缩小 |
| tr | Doğumsal mikrokori | Doğumsal miyoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156600 | E | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LA11.Y | NTBT | index | validated |
| MONDO | 0007989 | E | validated | |
| MeSH | C537550 | E | validated | |
| UMLS | C1303009 | E | validated | |
| GARD | 3635 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
18 annotations · validated 2021-08-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007695 | Abnormal pupillary light reflex | |
| HP:0007990 | Hypoplastic iris stroma | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0012805 | Iris transillumination defect | |
| Frequent (79-30%) | ||
| HP:0000483 | Astigmatism | |
| HP:0031730 | Axial myopia | |
| HP:0012047 | Hemeralopia | |
| HP:0100018 | Nuclear cataract | |
| HP:0007906 | Ocular hypertension | |
| HP:0012108 | Open angle glaucoma | |
| HP:0000613 | Photophobia | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0000622 | Blurred vision | |
| HP:0012040 | Corneal stromal edema | |
| HP:0000519 | Developmental cataract | |
| HP:0000485 | Megalocornea | |
| HP:0000662 | Nyctalopia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 33922078[PMID]_21677884[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/566
- This record as JSON: /data/d/566.json