Usher syndrome type 2
Synonyms: USH2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Usher syndrome type 2 | USH2 |
| fr | Syndrome d'Usher type 2 | = en |
| de | Usher-Syndrom Typ 2 | = en |
| es | Síndrome de Usher tipo 2 | = en |
| it | Sindrome di Usher tipo 2 | = en |
| nl | Syndroom van Usher type 2 | = en |
| pt | Síndrome de Usher tipo 2 | |
| pl | Zespół Ushera typu 2 | = en |
| cs | Usherův syndrom, typ II | = en |
| uk | Синдром Ашера, тип 2 | = en |
| zh | Usher综合征2型 | = en |
| tr | Usher sendromu tip 2 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276901 | BTNT | validated | |
| OMIM | 605472 | BTNT | validated | |
| OMIM | 611383 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.4 | NTBT | index | validated |
| MONDO | 0016484 | E | validated | |
| UMLS | C0339534 | E | validated | |
| GARD | 5440 | 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 |
|---|---|---|---|---|---|---|---|---|
| ADGRV1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17416 | ENSG00000164199 | 602851 | 5q14.3 | adhesion G protein-coupled receptor V1 | 20301515[PMID] |
| MYO7A | Disease-causing germline mutation(s) in | Assessed | HGNC:7606 | ENSG00000137474 | 276903 | 11q13.5 | myosin VIIA | 24831256[PMID] |
| USH2A | Disease-causing germline mutation(s) in | Assessed | HGNC:12601 | ENSG00000042781 | 608400 | 1q41 | usherin | 20301515[PMID] |
| WHRN | Disease-causing germline mutation(s) in | Assessed | HGNC:16361 | ENSG00000095397 | 607928 | 9q32 | whirlin | 20301515[PMID] |
| PDZD7 | Modifying germline mutation in | Assessed | HGNC:26257 | ENSG00000186862 | 612971 | 10q24.31 | PDZ domain containing 7 | 20440071[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.2 / 100 000 | Denmark | Value and class | Validated | 9212179[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet 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
21 annotations · validated 2025-09-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000359 | Abnormality of the inner ear | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000575 | Scotoma | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0012378 | Fatigue | |
| HP:0000545 | Myopia | |
| HP:0000662 | Nyctalopia | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0007663 | Reduced visual acuity | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0000551 | Color vision defect | |
| HP:0000716 | Depression | |
| HP:0002141 | Gait imbalance | |
| HP:0032036 | Reduced contrast sensitivity | |
| Very rare (<4-1%) | ||
| HP:0001751 | Abnormal vestibular function | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301515[PMID]_37334034[PMID]_39740053[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231178
- This record as JSON: /data/d/231178.json