Colobomatous macrophthalmia-microcornea syndrome
Synonyms: MACOM syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Elderly, Infancy
- Status
- active
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Colobomatous macrophthalmia-microcornea syndrome | MACOM syndrome |
| fr | Syndrome de macrophtalmie colobomateuse-microcornée | Syndrome MACOM |
| de | Kolobomatöse Makrophthalmie-Mikrokornea-Syndrom | MACOM-Syndrom |
| es | Síndrome colobomatoso de macroftalmia-microcórnea | Síndrome MACOM |
| it | Sindrome macroftalmia colobomatosa - microcornea | |
| nl | Colobomateuze macroftalmie - microcornea-syndroom | MACOM-syndroom |
| pt | Síndrome de macroftalmia colobomatosa-microcórnea | |
| pl | Zespół szczelinowatego wielkoocza i rogówki małej | Zespół MACOM |
| cs | Syndrom kolobomatózní makroftalmie a mikrokorney | MACOM syndrome · MACOM syndrom |
| uk | Синдром колобоматозної макрофтальмії-мікророгівки | Синдром МАСОМ |
| zh | 疣状巨眼-小角膜综合征 | MACOM综合征 |
| tr | Kolobomatöz makroftalmi-mikrokornea sendromu | MACOM sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602499 | E | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA10.Y | NTBT | attributed | validated |
| MONDO | 0011239 | E | validated | |
| MeSH | C566533 | E | validated | |
| UMLS | C1865286 | 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 (2):
- ORPHA:519272Structural developmental eye defect
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522536Structural developmental eye defect of genetic origin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRIM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2359 | ENSG00000150938 | 606189 | 2p22.2 | cysteine rich transmembrane BMP regulator 1 | 25561690[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 12900897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12900897[PMID] |
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/468672
- This record as JSON: /data/d/468672.json