ORPHA:728662
Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome
Synonyms: Sensorineural hearing impairment-brainstem malformation-motor delay-balance impairment syndrome · Sensorineural deafness-brainstem malformation-motor delay-balance impairment syndrome · ATOH1-related brainstem malformation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- 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 | Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome | Sensorineural hearing impairment-brainstem malformation-motor delay-balance impairment syndrome · Sensorineural deafness-brainstem malformation-motor delay-balance impairment syndrome · ATOH1-related brainstem malformation syndrome |
| fr | Syndrome de surdité neurosensorielle-malformation du tronc cérébral-retard moteur-trouble de l'équilibre | Syndrome de surdité de perception-malformation du tronc cérébral-retard moteur-trouble de l'équilibre · Syndrome de malformation du tronc cérébral associé à ATOH1 |
| de | Sensorineuraler Hörverlust-Hirnstammfehlbildung-motorische Entwicklungsverzögerung-Gleichgewichtsstörung-Syndrom | ATOH1-assoziiertes Hirnstammfehlbildungs-Syndrom · Sensorineurale Schwerhörigkeit-Hirnstammfehlbildung-motorische Entwicklungsverzögerung-Gleichgewichtsstörung-Syndrom |
| es | Síndrome de hipoacusia neurosensorial-malformación del tronco encefálico-retraso motor-alteración del equilibrio | Síndrome de malformación del tronco encefálico asociado al gen ATOH1 · Síndrome de sordera neurosensorial-malformación del tronco encefálico-retraso motor-alteración del equilibrio |
| it | Sindrome perdita dell'udito neurosensoriale -malformazione del tronco encefalico-ritardo motorio-compromissione dell'equilibrio | Sindrome da malformazione del tronco encefalico correlata ad ATOH1 · Sindrome sordità neurosensoriale-malformazione del tronco encefalico-ritardo motorio-compromissione dell'equilibrio · Sindrome compromissione dell'udito neurosensoriale-malformazione del tronco encefalico-ritardo motorio-alterazione dell'equilibrio |
| nl | Sensorineuraal gehoorverlies - malformatie van hersenstam - motorische achterstand - evenwichtsstoornis-syndroom | Sensorineurale doofheid - malformatie van hersenstam - motorische achterstand - evenwichtsstoornis-syndroom · ATOH1-gerelateerde malformatie van hersenstam-syndroom |
| pt | Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome | |
| pl | Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome | = en |
| cs | Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:730696Genetic syndrome with a brainstem malformation as a major feature
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:729519Syndrome with a brainstem malformation as a major feature
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 |
|---|---|---|---|---|---|---|---|---|
| ATOH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:797 | ENSG00000172238 | 601461 | 4q22.2 | atonal bHLH transcription factor 1 | 41592563[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 41592563[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 41592563[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/728662
- This record as JSON: /data/d/728662.json