ORPHA:77298
Anophthalmia/microphthalmia-esophageal atresia syndrome
Synonyms: MCOPS3 · Syndromic microphthalmia type 3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anophthalmia/microphthalmia-esophageal atresia syndrome | MCOPS3 · Syndromic microphthalmia type 3 |
| fr | Syndrome d'anophtalmie/microphtalmie-atrésie de l'oesophage | MCOPS3 · Microphtalmie syndromique type 3 |
| de | Anophthalmie/Mikrophthalmie-Ösophagusatresie-Syndrom | MCOPS3 · Mikrophthalmie, syndromale, Typ 3 |
| es | Síndrome de anoftalmia/microftalmia-atresia esofágica | Microftalmia sindrómica tipo 3 |
| it | Anoftalmia/microftalmia - atresia esofagea | MCOPS3 · Microftalmia sindromica, tipo 3 |
| nl | Anoftalmie/microftalmie - oesofageale atresie-syndroom | MCOPS3 · Syndromale microftalmie type 3 |
| pt | Síndrome de anoftalmia/microftalmia-atresia esofágica | MCOPS3 · Microftalmia sindromática tipo 3 |
| pl | Anoftalmia/mikroftalmia - zarośnięcie przełyku | MCOPS3 · Syndromiczne małoocze typu 3 |
| cs | Syndrom zahrnující anoftalmii/mikroftalmii a atrézii jícnu | MCOPS3 · Syndromická mikroftalmie, typ 3 |
| uk | Синдром анофтальмії/мікрофтальмії-атрезії стравоходу | MCOPS3 · Синдромна мікрофтальмія типу 3 |
| zh | 无眼/小眼-食管闭锁综合征 | 综合征性小眼症3型 |
| tr | Anoftalmi / mikroftalmi-özofagus atrezisi sendromu | MCOPS3 · Sendromik mikroftalmi tip 3 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206900 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0008799 | E | validated | |
| MeSH | C565948 | E | validated | |
| UMLS | C1859773 | E | validated | |
| GARD | 1443 | 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 (6):
- ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:371445Genetic syndromic esophageal malformation
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:108961Syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99987OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11195 | ENSG00000181449 | 184429 | 3q26.33 | SRY-box transcription factor 2 | 24033328[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 15578584[PMID]_16543359[PMID] | |
| 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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000528 | Anophthalmia | |
| HP:0002032 | Esophageal atresia | |
| HP:0000568 | Microphthalmia | |
| HP:0002575 | Tracheoesophageal fistula | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000028 | Cryptorchidism | |
| HP:0000365 | Hearing impairment | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0000878 | 11 pairs of ribs | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002937 | Hemivertebrae | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000647 | Sclerocornea | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 15578584[PMID]_20301477[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77298
- This record as JSON: /data/d/77298.json