ORPHA:139471
Microphthalmia with brain and digit anomalies
Synonyms: Bakrania-Ragge syndrome · MCOPS6 · Syndromic microphthalmia type 6
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the <I> BMP4</I> gene, which has already been shown to play a role in eye development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia with brain and digit anomalies | Bakrania-Ragge syndrome · MCOPS6 · Syndromic microphthalmia type 6 |
| fr | Microphtalmie avec anomalies cérébrales et des mains | MCOPS6 · Microphtalmie syndromique type 6 · Syndrome de Bakrania-Ragge |
| de | Bakrania-Ragge-Syndrom | MCOPS6 · Mikrophthalmie mit Anomalien des Gehirns und der Finger · Mikrophthalmie, syndromale, Typ 6 |
| es | Microftalmía con anomalías cerebrales y de las manos | Microftalmía sindrómica tipo 6 · Síndrome de Bakrania-Ragge |
| it | Microftalmia con anomalie cerebrali e delle mani | MCOPS6 · Microftalmia sindromica, tipo 6 · Sindrome di Bakrania-Ragge |
| nl | Microftalmie met anomalieën van hersenen en digitus | MCOPS6 · Syndromale microftalmie type 6 · Syndroom van Bakrania-Ragge |
| pt | Síndrome de Bakrania-Ragge | |
| pl | Mikroftalmia z anomaliami mózgu i palców | MCOPS6 · Mikroftalmia syndromiczna typu 6 · Zespół Bakrania i Ragge |
| cs | Mikroftalmie s anomáliemi mozku a prstů | Bakraniaové-Raggeové syndrom · MCOPS6 · Syndromická mikroftalmie, typ 6 · Bakrania-Raggeové syndrom |
| uk | Мікрофтальм з аномаліями головного мозку та пальців | Синдром Бакранія-Рагге · MCOPS6 · Синдромна мікрофтальмія типу 6 |
| zh | 小眼畸形伴脑和手指异常 | 症状性小眼6型 |
| tr | Beyin ve parmak anomali ile seyreden mikroftalmi | MCOPS6 · Bakrania-Ragge sendromu · Sendromik mikroftalmi tip 6 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607932 | E | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| MONDO | 0011936 | E | validated | |
| MeSH | C566440 | E | validated | |
| UMLS | C1864689 | E | validated | |
| GARD | 3645 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| BMP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1071 | ENSG00000125378 | 112262 | 14q22.2 | bone morphogenetic protein 4 | 18252212[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18252212[PMID] |
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 18252212[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.
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HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000528 | Anophthalmia | |
| HP:0000568 | Microphthalmia | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0001263 | Global developmental delay | |
| HP:0000612 | Iris coloboma | |
| HP:0000482 | Microcornea | |
| Occasional (29-5%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000028 | Cryptorchidism | |
| HP:0006101 | Finger syndactyly | |
| HP:0000218 | High palate | |
| HP:0007068 | Inferior vermis hypoplasia | |
| HP:0000252 | Microcephaly | |
| HP:0000545 | Myopia | |
| HP:0002164 | Nail dysplasia | |
| HP:0000639 | Nystagmus | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000647 | Sclerocornea | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139471
- This record as JSON: /data/d/139471.json