High myopia-sensorineural deafness syndrome
Synonyms: High myopia-sensorineural hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | High myopia-sensorineural deafness syndrome | High myopia-sensorineural hearing loss syndrome |
| fr | Syndrome de myopie forte-surdité neurosensorielle | |
| de | Hochgradige Myopie-sensorineurale Schwerhörigkeit-Syndrom | |
| es | Síndrome de miopía alta-sordera neurosensorial | Síndrome de miopía alta-hipoacusia neurosensorial |
| it | Sindrome miopia elevata-sordità neurosensoriale | |
| nl | Hoge myopie - sensorineurale doofheid-syndroom | |
| pt | Síndrome de miopia grave-surdez neurossensorial | |
| pl | Zespół wysoka krótkowzroczność-głuchota | Zespół wysoka krótkowzroczność-utrata słuchu |
| cs | Syndrom zahrnující vysokou myopii a senzorineurální hluchotu | = en |
| uk | Синдром сенсоневральної приглухуватості з високою міопією | Синдром сенсоневральної приглухуватості з високою міопією |
| zh | 高度近视-感音神经性耳聋综合征 | 高度近视-感音神经性听力损失综合征 |
| tr | Yüksek miyopi-sensörinöral sağırlık sendromu | Yüksek miyopi-sensörinöral işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221200 | E | validated | |
| ICD-10 | H90.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | attributed | validated |
| MONDO | 0009082 | E | validated | |
| UMLS | C4304026 | E | validated | |
| GARD | 12844 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:519272Structural developmental eye defect
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522536Structural developmental eye defect of genetic origin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLITRK6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23503 | ENSG00000184564 | 609681 | 13q31.1 | SLIT and NTRK like family member 6 | 23543054[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23543054[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363396
- This record as JSON: /data/d/363396.json