Usher syndrome type 1
Synonyms: USH1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Usher syndrome type 1 | USH1 |
| fr | Syndrome d'Usher type 1 | = en |
| de | Usher-Syndrom Typ 1 | = en |
| es | Síndrome de Usher tipo 1 | = en |
| it | Sindrome di Usher tipo 1 | = en |
| nl | Syndroom van Usher type 1 | = en |
| pt | Síndrome de Usher tipo 1 | |
| pl | Zespół Ushera typu 1 | = en |
| cs | Usherův syndrom, typ I | = en |
| uk | Синдром Ашера, тип 1 | = en |
| zh | Usher综合征1型 | = en |
| tr | Usher sendromu tip 1 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276900 | BTNT | validated | |
| OMIM | 276904 | BTNT | validated | |
| OMIM | 601067 | BTNT | validated | |
| OMIM | 602083 | BTNT | validated | |
| OMIM | 602097 | BTNT | validated | |
| OMIM | 606943 | BTNT | validated | |
| OMIM | 612632 | BTNT | validated | |
| OMIM | 614990 | BTNT | validated | |
| OMIM | 618632 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.4 | NTBT | index | validated |
| MONDO | 0010168 | E | validated | |
| UMLS | C1568247 | E | validated | |
| GARD | 5435 | 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
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDH23 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13733 | ENSG00000107736 | 605516 | 10q22.1 | cadherin related 23 | 20301442[PMID] |
| MYO7A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7606 | ENSG00000137474 | 276903 | 11q13.5 | myosin VIIA | 20301442[PMID] |
| PCDH15 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14674 | ENSG00000150275 | 605514 | 10q21.1 | protocadherin related 15 | 20301442[PMID] |
| USH1C | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12597 | ENSG00000006611 | 605242 | 11p15.1 | USH1 protein network component harmonin | 20301442[PMID] |
| USH1G | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16356 | ENSG00000182040 | 607696 | 17q25.1 | USH1 protein network component sans | 20301442[PMID] |
| ESPN | Disease-causing germline mutation(s) in | Assessed | HGNC:13281 | ENSG00000187017 | 606351 | 1p36.31 | espin | 29572253[PMID] |
| USH1E | Disease-causing germline mutation(s) in | Assessed | HGNC:12599 | 21q21 | Usher syndrome 1E (autosomal recessive, severe) | 20301442[PMID] | ||
| USH1H | Disease-causing germline mutation(s) in | Assessed | HGNC:22433 | 15q22-q23 | Usher syndrome 1H (autosomal recessive) | 20301442[PMID] | ||
| USH1K | Disease-causing germline mutation(s) in | Assessed | HGNC:43724 | 10p11.21-q21.1 | Usher syndrome 1K (autosomal recessive) | 20301442[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 / 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
16 annotations · validated 2025-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000375 | Abnormal cochlea morphology | |
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000662 | Nyctalopia | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000575 | Scotoma | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0001751 | Abnormal vestibular function | |
| HP:0000518 | Cataract | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002141 | Gait imbalance | |
| HP:0001270 | Motor delay | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0000716 | Depression | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301442[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231169
- This record as JSON: /data/d/231169.json