Usher syndrome type 3
Synonyms: USH3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Usher syndrome type 3 | USH3 |
| fr | Syndrome d'Usher type 3 | = en |
| de | Usher-Syndrom Typ 3 | = en |
| es | Síndrome de Usher tipo 3 | = en |
| it | Sindrome di Usher tipo 3 | = en |
| nl | Syndroom van Usher type 3 | = en |
| pt | Síndrome de Usher tipo 3 | |
| pl | Zespół Ushera typu 3 | = en |
| cs | Usherův syndrom, typ III | = en |
| uk | Синдром Ашера, тип 3 | = en |
| zh | Usher综合征3型 | = en |
| tr | Usher sendromu tip 3 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276902 | BTNT | validated | |
| OMIM | 500004 | BTNT | validated | |
| OMIM | 614504 | BTNT | validated | |
| OMIM | 617236 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.4 | NTBT | index | validated |
| MONDO | 0016485 | E | validated | |
| UMLS | C1568248 | E | validated | |
| GARD | 5442 | 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 (1):
- ORPHA:886Usher syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARSG | Disease-causing germline mutation(s) in | Assessed | HGNC:24102 | ENSG00000141337 | 610008 | 17q24.2 | arylsulfatase G | 29300381[PMID] |
| CEP78 | Disease-causing germline mutation(s) in | Assessed | HGNC:25740 | ENSG00000148019 | 617110 | 9q21.2 | centrosomal protein 78 | 27627988[PMID] |
| CLRN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12605 | ENSG00000163646 | 606397 | 3q25.1 | clarin 1 | 19753315[PMID] |
| HARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4816 | ENSG00000170445 | 142810 | 5q31.3 | histidyl-tRNA synthetase 1 | 22279524[PMID] |
| MT-TS2 | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:7498 | ENSG00000210184 | 590085 | mitochondria | mitochondrially encoded tRNA-Ser (AGU/C) 2 |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Denmark | Value and class | Validated | 9212179[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.2 / 100 000 | Specific population | Value and class | Validated | 14569126[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
12 annotations · validated 2025-09-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000375 | Abnormal cochlea morphology | |
| HP:0000512 | Abnormal electroretinogram | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000662 | Nyctalopia | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000575 | Scotoma | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001756 | Vestibular hypofunction | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0001751 | Abnormal vestibular function | |
| HP:0000739 | Anxiety | |
| HP:0000716 | Depression | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 39304915[PMID]_30974196[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231183
- This record as JSON: /data/d/231183.json