Bosley-Salih-Alorainy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the <i>HOXA1</i> gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bosley-Salih-Alorainy syndrome | |
| fr | Syndrome de Bosley-Salih-Alorainy | |
| de | Bosley-Salih-Alorainy-Syndrom | |
| es | Síndrome de Bosley-Salih-Aloainy | |
| it | Sindrome di Bosley-Salih-Alorainy | |
| nl | Syndroom van Bosley-Salih-Alorainy | |
| pt | Síndrome de Bosley-Salih-Alorainy | |
| pl | Zespół Bosley'a, Saliha i Alorainy'a | |
| cs | Bosleyho-Salihův-Alorainyho syndrom | Bosley-Salih-Alorainyho syndrom |
| uk | Синдром Бослі-Саліха-Алорейні | |
| zh | Bosley-Salih-Alorainy综合征 | |
| tr | Bosley-Salih-Alorainy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601536 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0019075 | E | validated | |
| UMLS | C1832216 | 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:98518Congenital cranial dysinnervation disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - 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 - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5099 | ENSG00000105991 | 142955 | 7p15.2 | homeobox A1 | 17875913[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 16155570[PMID]_17875913[PMID]_18412118[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16155570[PMID]_17875913[PMID]_18412118[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69737
- This record as JSON: /data/d/69737.json