Isolated microphthalmia-anophthalmia-coloboma
Synonyms: Isolated MAC
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated microphthalmia-anophthalmia-coloboma | Isolated MAC |
| fr | Microphtalmie-anophtalmie-colobome isolée | MAC isolée |
| de | Mikrophthalmie-Anophthalmie-Kolobom, isolierte Form | |
| es | Microftalmia-anoftalmia-coloboma aislados | MAC aislados |
| it | Microftalmia-anoftalmia-coloboma isoltati | MAC isolata |
| nl | Geïsoleerde microftalmie - anoftalmie - coloboom | Geïsoleerde MAC |
| pt | Microftalmia isolada-anoftalmia-coloboma | Síndrome de anoftalmia isolada-microftalmia |
| pl | Izolowana anoftalmia - mikroftalmia | Anoftalmia prymitywna · Anooftalmia kliniczna · Czysta izolowana mikroftalmia |
| cs | Syndrom zahrnující izolovanou anoftalmii a mikroftalmii | MAC spektrum · Spektrum zahrnující mikroftalmii, anoftalmii a kolobom |
| uk | Ізольована мікрофтальмія-анофтальмія-колобома | Синдром ізольованої анофтальмії-мікрофтальмії |
| zh | 孤立型小眼畸形-无眼畸形-眼底缺损 | 孤立型无眼畸形-小眼畸形综合征 |
| tr | İzole mikroftalmi-anoftalmi-kolobom | İzole anoftalmi-mikroftalmi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156850 | BTNT | validated | |
| OMIM | 251600 | E | validated | |
| OMIM | 610093 | BTNT | validated | |
| OMIM | 611038 | BTNT | validated | |
| OMIM | 613094 | BTNT | validated | |
| OMIM | 613517 | BTNT | validated | |
| OMIM | 613704 | BTNT | validated | |
| OMIM | 615113 | BTNT | validated | |
| MONDO | 16764 | E | validated | |
| UMLS | C5679828 | E | validated | |
| GARD | 12085 | 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:98555Microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:2543OBSOLETE: Microphthalmia-cataract syndrome referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.18 / 100 000 | France | Value and class | Validated | 8921488[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.33 / 100 000 | Sweden | Value and class | Validated | 8921488[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.7 / 100 000 | United States | Value and class | Validated | 8921488[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]_[EXPERT] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | [EXPERT] |
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/2542
- This record as JSON: /data/d/2542.json