Athabaskan brainstem dysgenesis syndrome
Synonyms: ABSD · Athabascan brainstem dysgenesis syndrome · Navajo brainstem syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Athabaskan brainstem dysgenesis syndrome | ABSD · Athabascan brainstem dysgenesis syndrome · Navajo brainstem syndrome |
| fr | Dysgénésie du tronc cérébral type Athabascan | |
| de | Athabasken-Hirnstammdysgenesie-Syndrom | ABSD · Navajo-Hirnstamm-Syndrom |
| es | Síndrome disgenésico del tronco encefálico de Athabaskan | ABSD · Síndrome troncoencefálico navajo |
| it | Sindrome da disgenesia del tronco encefalico tipo Athabaskan | ABSD · Sindrome da disgenesia del tronco cerebrale, tipo Athabascan · Sindrome del tronco cerebrale dei Navajo |
| nl | Athabaskan-hersenstamdysgenesiesyndroom | ABSD · Athabascan-hersenstamdysgenesiesyndroom · Navajo-hersenstamsyndroom |
| pt | Disgenesia do tronco cerebral de Athabaskan | ABSD · Síndrome tronco cerebral de Navajo |
| pl | Athabaskański zespół dysgenezji pnia mózgu | ABSD · Zespół pnia mózgu Navajo |
| cs | Athabaský syndrom dysgeneze mozkového kmene | ABSD · Athabaskanský syndrom dysgeneze mozkového kmene · Navažský syndrom mozkového kmene |
| uk | Синдром дисгенезії стовбура головного мозку Атабаскана | ABSD · Синдром дисгенезії стовбура головного мозку Атабаскана · Синдром стовбура мозку Навахо |
| zh | Athabaskan脑干发育不良综合征 | Athabaskan脑干发育不良综合征 |
| tr | Athabaskan beyin sapı disgenezi sendromu | ABSD · Navajo beyin sapı sendromu · Athabascan beyin sapı disgenezi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601536 | E | validated | |
| ICD-10 | G96.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0011099 | E | validated | |
| MeSH | C535397 | E | validated | |
| UMLS | C1832215 | E | validated | |
| GARD | 8333 | 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 (3):
- ORPHA:98518Congenital cranial dysinnervation disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98006Rare neurologic disease
rare neurological 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 | 18412118[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 12833395[PMID]_18412118[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12833395[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/69739
- This record as JSON: /data/d/69739.json