ORPHA:178364
Syndromic microphthalmia type 5
Synonyms: MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic microphthalmia type 5 | MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation |
| fr | Microphtalmie syndromique type 5 | MCOPS5 · Microphtalmie/anophtalmie syndromique due à une mutation de OTX2 |
| de | Syndromale Mikrophthalmie Typ 5 | Syndromale Mikrophthalmie durch OTX2-Genmutation |
| es | Microftalmia sindrómica tipo 5 | MCOPS5 · Microftalmia sindrómica por una mutación en el gen OTX2 |
| it | Microftalmia sindromica da mutazione di OTX2 | |
| nl | Syndromale microftalmie type 5 | Syndromale microftalmie/anoftalmie door OTX2-mutatie |
| pt | Microftalmia sindromática tipo 5 | Microftalmia sindromática por mutação no gene OTX2 |
| pl | Syndromiczne małoocze typu 5 | MCOPS5 · Syndromiczne małoocze/bezocze z powodu mutacji OTX2 |
| cs | Syndromická mikroftalmie, typ 5 | MCOPS5 · Syndromická mikroftalmie/anoftalmie způsobená mutací OTX2 genu |
| uk | Синдромальна мікрофтальмія, тип 5 | MCOPS5 · Синдромальна мікрофтальмія/анофтальмія внаслідок мутації OTX2 |
| zh | 综合征性小眼畸形5型 | OTX2基因突变所致综合征性小眼畸形/无眼畸形 |
| tr | Sendromik mikroftalmi tip 5 | MCOPS5 · OTX2 mutasyonuna bağlı sendromik mikroftalmi/anoftalmi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610125 | E | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0012413 | E | validated | |
| MeSH | C566441 | E | validated | |
| UMLS | C1864690 | E | validated | |
| GARD | 3692 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 15846561[PMID]_20396904[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178364
- This record as JSON: /data/d/178364.json