ORPHA:689397
Poirier-Bienvenu neurodevelopmental syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Poirier-Bienvenu neurodevelopmental syndrome | |
| fr | Syndrome neurodéveloppemental de Poirier-Bienvenu | Syndrome du neuro-développement Poirier-Bienvenue |
| de | Neurologische Entwicklungsstörung Typ Poirier-Bienvenue | POBINDS |
| es | Síndrome del neurodesarrollo de Poirier-Bienvenue | |
| it | Sindrome del neurosviluppo di Poirier-Bienvenu | |
| nl | Neurologisch ontwikkelingssyndroom van Poirier-Bienvenu | |
| pt | Síndrome Poirier-Bienvenue do neurodesenvolvimento | |
| pl | Zespół neurorozwojowy Poiriera-Bienvenue | |
| cs | Poirier-Bienvenueův neurovývojový syndrom | Poirierové-Bienvenueův neurovývojový syndrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618732 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 32889 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSNK2B | Disease-causing germline mutation(s) in | Assessed | HGNC:2460 | ENSG00000204435 | 115441 | 6p21.33 | casein kinase 2 beta | 34740143[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 81 cases | Worldwide | Case(s) | Validated | 38037515[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38037515[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/689397
- This record as JSON: /data/d/689397.json