Sensorineural hearing loss-early graying-essential tremor syndrome
Synonyms: Sensorineural deafness-early graying-essential tremor syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sensorineural hearing loss-early graying-essential tremor syndrome | Sensorineural deafness-early graying-essential tremor syndrome |
| fr | Syndrome de surdité neurosensorielle-grisonnement précoce-tremblement essentiel | |
| de | Sensorineurale Schwerhörigkeit-frühes Ergrauen-essentieller Tremor-Syndrom | Syndrom der Schallempfindungsschwerhörigkeit mit frühem Ergrauen und essentiellen Tremor |
| es | Síndrome de hipoacusia neurosensorial-aparición temprana de canas-temblor esencial | Síndrome de sordera neurosensorial-canicie precoz-temblor esencial |
| it | Sordità neurosensoriale - incanutimento precoce - tremore essenziale | |
| nl | Sensorineuraal gehoorverlies - vroege vergrijzing - essentiële tremor-syndroom | |
| pt | Síndrome de perda auditiva neurossensorial-embranquecimento do cabelo precoce-tremor idiopático | Síndrome de surdez neurossensorial-embranquecimento do cabelo precoce-tremor idiopático |
| pl | Czuciowo-nerwowa utrata słuchu - przedwczesne siwienie - drżenie samoistne | = en |
| cs | Syndrom zahrnující senzorineurální ztrátu sluchu, časné šedivění a esenciální tremor | = en |
| uk | Синдром сенсоневральної втрати слуху-ранньої сивини-есенціального тремору | Синдром сенсоневральної глухоти - ранньої сивиниа - есенціального тремору |
| zh | 感音神经性听觉丧失-早期老龄化-特发性震颤综合征 | 感音神经性耳聋-昌年白发-特发性震颤综合征 |
| tr | Sensörinöral işitme kaybı - erken yaşta grileşme esansiyel tremor sendromu | Sensörinöral sağırlık-erken grileşme-esansiyel tremor sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H90.3 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0019022 | E | validated | |
| UMLS | C4510044 | 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 (4):
- ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:307061Rare genetic tremor disorder
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:306712Rare tremor disorder
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 16025060[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16025060[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0002216 | Premature graying of hair | |
| Frequent (79-30%) | ||
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0001100 | Heterochromia iridis | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66633
- This record as JSON: /data/d/66633.json