ORPHA:698090
Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
Synonyms: BRPF1-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic syndrome characterized by developmental delay, intellectual disability, ophthalmological abnormalities and dysmorphic facial features such as ptosis and round face.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome | BRPF1-related neurodevelopmental disorder |
| fr | Syndrome d'anomalies ophtalmologiques-dysmorphie faciale-déficience intellectuelle | Trouble du neurodéveloppement associé à BRPF1 |
| de | Ophthalmologische Anomalien-Gesichtsdysmorphien-Intelligenzminderung-Syndrom | IDDDFP · Intellektuelle Entwicklungsstörung mit dysmorphen Gesichtszügen und Ptosis · Neurologische Entwicklungsstörung, BRPF1-assoziierte |
| es | Síndrome de anomalías oftalmológicas-dismorfia facial-discapacidad intelectual | Trastorno del neurodesarrollo asociado a BRPF1 |
| it | Sindrome anomalie oculari, dismorfismi facciali-disabilità intellettiva | Malattia del neurosviluppo correlata a BRPF1 |
| nl | Oftalmologische afwijkingen - faciale dysmorfie - intellectuele achterstand-syndroom | BRPF1-gerelateerde neurologische ontwikkelingsstroonis |
| pt | Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome | |
| pl | Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome | = en |
| cs | Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617333 | 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 (2):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRPF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14255 | ENSG00000156983 | 602410 | 3p25.3 | bromodomain and PHD finger containing 1 | 39837771[PMID]_27939639[PMID]_27939640[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 79 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/698090
- This record as JSON: /data/d/698090.json