Microphthalmia-brain atrophy syndrome
Synonyms: MCOPS10 · MOBA syndrome · Syndromic microphthalmia type 10
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia-brain atrophy syndrome | MCOPS10 · MOBA syndrome · Syndromic microphthalmia type 10 |
| fr | Syndrome de microphtalmie-atrophie cérébrale | MCOPS10 · Microphtalmie syndromique type 10 · Syndrome MOBA |
| de | Mikrophthalmie-Hirnatrophie-Syndrom | MOBA-Syndrom |
| es | Síndrome de microftalmia-atrofia cerebral | Síndrome MOBA |
| it | Microftalmia - atrofia cerebrale | Sindrome MOBA |
| nl | Microftalmie - hersenatrofie-syndroom | MCOPS10 · MOBA-syndroom · Syndromale microftalmie type 10 |
| pt | Síndrome de microftalmia-atrofia cerebral | Microftalmia sindromática tipo 10 · Síndrome MOBA |
| pl | Małoocze - atrofia mózgu | MCOPS10 · Syndromiczne małoocze typu 10 · Zespół MOBA |
| cs | Syndrom zahrnující mikroftalmii a mozkovou atrofii | MCOPS10 · MOBA syndrom · Syndromická mikroftalmie, typ 10 |
| uk | Синдром мікрофтальмії та атрофії головного мозку | MCOPS10 · Синдром MOBA · Синдромна мікрофтальмія типу 10 |
| zh | 小眼-脑萎缩综合征 | 综合征性小眼症10型 |
| tr | Mikroftalmi-beyin atrofisi sendromu | MCOPS10 · MOBA sendromu · Sendromik mikroftalmi tip 10 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611222 | E | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0012638 | E | validated | |
| MeSH | C566985 | E | validated | |
| UMLS | C1970013 | E | validated | |
| GARD | 9292 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 16566018[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16566018[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.
HPO phenotypes
20 annotations · validated 2019-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007633 | Bilateral microphthalmos | |
| HP:0000618 | Blindness | |
| Frequent (79-30%) | ||
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0002376 | Developmental regression | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0007162 | Diffuse demyelination of the cerebral white matter | |
| HP:0030215 | Inappropriate crying | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000252 | Microcephaly | |
| HP:0031165 | Multifocal seizures | |
| HP:0001257 | Spasticity | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0007361 | Abnormality of the pons | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0011174 | Hyperkinetic seizures | |
| HP:0100703 | Tongue thrusting | |
| HP:0031358 | Vegetative state | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16566018[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77299
- This record as JSON: /data/d/77299.json