ORPHA:98555
Microphthalmia-anophthalmia-coloboma
Synonyms: Anophthalmia-microphthalmia syndrome
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia-anophthalmia-coloboma | Anophthalmia-microphthalmia syndrome |
| fr | Microphtalmie-anophtalmie-colobome | Anophtalmie-microphtalmie · Spectre microphtalmie-anophtalmie-colobome |
| de | Mikrophthalmie-Anophthalmie-Kolobom | |
| es | Microftalmia-anoftalmia-coloboma | |
| it | Anoftalmia - microftalmia | |
| nl | Anoftalmie - microftalmie-syndroom | |
| pt | Anoftalmia - microftalmia | |
| pl | Anoftalmia - mikroftalmia | = en |
| cs | Syndromy zahrnující anoftalmii a mikroftalmii | = en |
| uk | Мікрофтальм-анофтальм-колобома | Синдром анофтальмії-мікрофтальмії |
| zh | 小眼-无眼-缺损 | 无眼-小眼综合征 |
| tr | Mikroftalmi-anoftalmi-kolobom | Anoftalmi-mikroftalmi sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680330 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
40 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 8.3 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Belgium | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Austria | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 36.4 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Denmark | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.3 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | France | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Germany | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 17.7 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Hungary | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Ireland | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Italy | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.9 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Malta | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2005[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.1 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Netherlands | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.4 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Norway | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.4 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Poland | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13.1 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Croatia | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.4 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Spain | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.3 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Switzerland | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.9 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | United Kingdom | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.9 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Ukraine | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.2 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Portugal | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18 / 100 000 | United States | Value and class | Validated | 8921488[PMID]_8179669[PMID]_16007635[PMID]_Center for Diseases Control and Prevention 2004-2006[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | United States | Class only | Validated | 8921488[PMID]_8179669[PMID]_16007635[PMID]_Center for Diseases Control and Prevention 2004-2006[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98555
- This record as JSON: /data/d/98555.json