ORPHA:686482
BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
Synonyms: BPTF-related NEDDFL · BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome | BPTF-related NEDDFL · BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| fr | Syndrome de déficience intellectuelle-dysmorphie faciale-anomalies squelettiques associé à BPTF | NEDDFL |
| de | BPTF-assoziierte neurologische Entwicklungsstörung | BPTF-assoziierte neurologische Entwicklungsstörung mit dysmorphen Gesichtszügen und Anomalien der distalen Gliedmaßen · NEDDFL, BPTF-assoziiert |
| es | Síndrome de discapacidad intelectual-dismorfia facial-anomalías esqueléticas asociado al gen BPTF | Trastorno del neurodesarrollo con facies dismórfica y anomalías de las extremidades distales asociado al gen BPTF |
| it | Sindrome disabilità intellettuale-dismorfismi facciali-anomalie scheletriche correlata a BPTF | NEDDFL correlata a BPTF · Malattia del neurosviluppo con dismorfismi facciali e anomalie distali degli arti correlata a BPTF |
| nl | BPTF-gerelateerd intellectuele achterstand - faciale dysmorfie - skeletanomalieën-syndroom | BPTF-gerelateerd NEDDFL · BPTF-gerelateerde neurologische ontwikkelingsstoornis met dysmorf gelaat en distale ledemaatanomalieën |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-anomalias esqueléticas BPTF-relacionada | Doença do neurodesenvolvimento BPTF-relacionada com dismorfia facial e anomalias distais dos membros · NEDDFL BPTF-relacionada |
| pl | BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome | = en |
| cs | BPTF asociovaný syndrom zahrnující intelektovou nedostatečnost, faciální dysmorfii a kosterní anomálie | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617755 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| MONDO | 60596 | 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 |
|---|---|---|---|---|---|---|---|---|
| BPTF | Disease-causing germline mutation(s) in | Assessed | HGNC:3581 | ENSG00000171634 | 601819 | 17q24.2 | bromodomain PHD finger transcription factor | 33522091[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 28942966[PMID]_33522091[PMID]_30633344[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28942966[PMID]_33522091[PMID]_30633344[PMID]_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/686482
- This record as JSON: /data/d/686482.json