Optic atrophy-intellectual disability syndrome
Synonyms: BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Optic atrophy-intellectual disability syndrome | BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome |
| fr | Syndrome d'atrophie optique-déficience intellectuelle | BBSOAS · Syndrome d'atrophie optique Bosch-Boonstra-Schaaf |
| de | Optikusatrophie-Intelligenzminderung-Syndrom | BBSOAS · Bosch-Boonstra-Schaaf-Syndrom |
| es | Síndrome de atrofia óptica-discapacidad intelectual | Síndrome de atrofia óptica de Bosch-Boonstra-Schaaf |
| it | Sindrome atrofia ottica-deficit cognitivo | |
| nl | Opticusatrofie - intellectuele achterstand-syndroom | BBSOAS · Syndroom van opticusatrofie van Bosch-Boonstra-Schaaf |
| pt | Síndrome de atrofia óptica-perturbação do desenvolvimento intelectual | |
| pl | Zespół atrofia nerwu wzrokowego-niepełnosprawność intelektualna | = en |
| cs | Syndrom zahrnující atrofii optiku a mentální retardaci | = en |
| uk | Синдром атрофії зорового нерва - інтелектуальної недостатності | BBSOAS · Синдром атрофії зорового нерва Боша-Бунстра-Шаафа |
| zh | 视神经萎缩-智力障碍综合征 | Bosch-Boonstra-Schaaf视神经萎缩综合征 |
| tr | Optik atrofi-zihinsel yetersizlik sendromu | BBSOAS · Bosch-Boonstra-Schaaf optik atrofi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615722 | E | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 9C40.B0 | NTBT | attributed | validated |
| MONDO | 0014320 | E | validated | |
| UMLS | C3810363 | E | validated | |
| MedDRA | 10083269 | 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 (2):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NR2F1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7975 | ENSG00000175745 | 132890 | 5q15 | nuclear receptor subfamily 2 group F member 1 | 24462372[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 24462372[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24462372[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
39 annotations · validated 2019-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000729 | Autistic behavior | |
| HP:0001263 | Global developmental delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000648 | Optic atrophy | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0001344 | Absent speech | |
| HP:0000646 | Amblyopia | |
| HP:0000463 | Anteverted nares | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0000577 | Exotropia | |
| HP:0000365 | Hearing impairment | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0008762 | Repetitive compulsive behavior | |
| HP:0003194 | Short nasal bridge | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001123 | Visual field defect | |
| Very rare (<4-1%) | ||
| HP:0025100 | Abnormal hippocampus morphology | |
| HP:0012448 | Delayed myelination | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000540 | Hypermetropia | |
| HP:0000563 | Keratoconus | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
Annotation source: 26986877[PMID]_28963436[PMID]_24462372[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401777
- This record as JSON: /data/d/401777.json