ORPHA:886
Usher syndrome
Synonyms: Retinitis pigmentosa-deafness syndrome · Retinitis pigmentosa-hearing loss syndrome · USH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Usher syndrome | Retinitis pigmentosa-deafness syndrome · Retinitis pigmentosa-hearing loss syndrome · USH |
| fr | Syndrome d'Usher | Syndrome de rétinite pigmentaire-surdité · USH |
| de | Usher-Syndrom | Retinitis pigmentosa - Taubheit · USH |
| es | Síndrome de Usher | Síndrome de retinosis pigmentaria-hipoacusia · Síndrome de retinosis pigmentaria-sordera · USH |
| it | Sindrome di Usher | Retinite pigmentosa - sordità · USH |
| nl | Syndroom van Usher | Retinitis pigmentosa - doofheid-syndroom · Retinitis pigmentosa - gehoorverlies-syndroom · USH |
| pt | Síndrome Usher | Síndrome de retinite pigmentosa-surdez |
| pl | Zespół Ushera | USH · Zwyrodnienie barwnikowe siatkówki - głuchota |
| cs | Usherův syndrom | Syndrom zahrnující retinitis pigmentosa a hluchotu · USH |
| uk | Синдром Ушера (Ашера) | Синдром пігментної дегенерації сітківки - глухота · Синдром пігментного ретиніту - втрати слуху · USH |
| zh | Usher综合征 | 色素性视网膜炎-听力丧失综合征 |
| tr | Usher sendromu | USH · Retinitis pigmentosa-sağırlık sendromu · Retinitis pigmentosa-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276900 | BTNT | validated | |
| OMIM | 276901 | BTNT | validated | |
| OMIM | 276902 | BTNT | validated | |
| OMIM | 276904 | BTNT | validated | |
| OMIM | 500004 | BTNT | validated | |
| OMIM | 601067 | BTNT | validated | |
| OMIM | 602083 | BTNT | validated | |
| OMIM | 602097 | BTNT | validated | |
| OMIM | 605472 | BTNT | validated | |
| OMIM | 606943 | BTNT | validated | |
| OMIM | 611383 | BTNT | validated | |
| OMIM | 612632 | BTNT | validated | |
| OMIM | 614504 | BTNT | validated | |
| OMIM | 614990 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.4 | E | specific | validated |
| MONDO | 0019501 | E | validated | |
| MeSH | D052245 | E | validated | |
| UMLS | C0271097 | E | validated | |
| GARD | 7843 | E | validated | |
| MedDRA | 10063396 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:156177Retinal ciliopathy due to mutation in Usher gene
rare genetic diseases
4
Genes
0 direct · 19 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CDH23 | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13733 | ENSG00000107736 | 605516 | 10q22.1 | cadherin related 23 | 20301442[PMID] |
| MYO7A | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7606 | ENSG00000137474 | 276903 | 11q13.5 | myosin VIIA | 20301442[PMID] |
| PCDH15 | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14674 | ENSG00000150275 | 605514 | 10q21.1 | protocadherin related 15 | 20301442[PMID] |
| USH1C | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12597 | ENSG00000006611 | 605242 | 11p15.1 | USH1 protein network component harmonin | 20301442[PMID] |
| USH1G | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16356 | ENSG00000182040 | 607696 | 17q25.1 | USH1 protein network component sans | 20301442[PMID] |
| ADGRV1 | ORPHA:231178Usher syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17416 | ENSG00000164199 | 602851 | 5q14.3 | adhesion G protein-coupled receptor V1 | 20301515[PMID] |
| ARSG | ORPHA:231183Usher syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:24102 | ENSG00000141337 | 610008 | 17q24.2 | arylsulfatase G | 29300381[PMID] |
| CEP78 | ORPHA:231183Usher syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:25740 | ENSG00000148019 | 617110 | 9q21.2 | centrosomal protein 78 | 27627988[PMID] |
| CLRN1 | ORPHA:231183Usher syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12605 | ENSG00000163646 | 606397 | 3q25.1 | clarin 1 | 19753315[PMID] |
| ESPN | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13281 | ENSG00000187017 | 606351 | 1p36.31 | espin | 29572253[PMID] |
| HARS1 | ORPHA:231183Usher syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4816 | ENSG00000170445 | 142810 | 5q31.3 | histidyl-tRNA synthetase 1 | 22279524[PMID] |
| MT-TS2 | ORPHA:231183Usher syndrome type 3 | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:7498 | ENSG00000210184 | 590085 | mitochondria | mitochondrially encoded tRNA-Ser (AGU/C) 2 | |
| MYO7A | ORPHA:231178Usher syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7606 | ENSG00000137474 | 276903 | 11q13.5 | myosin VIIA | 24831256[PMID] |
| USH1E | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12599 | 21q21 | Usher syndrome 1E (autosomal recessive, severe) | 20301442[PMID] | ||
| USH1H | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:22433 | 15q22-q23 | Usher syndrome 1H (autosomal recessive) | 20301442[PMID] | ||
| USH1K | ORPHA:231169Usher syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:43724 | 10p11.21-q21.1 | Usher syndrome 1K (autosomal recessive) | 20301442[PMID] | ||
| USH2A | ORPHA:231178Usher syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12601 | ENSG00000042781 | 608400 | 1q41 | usherin | 20301515[PMID] |
| WHRN | ORPHA:231178Usher syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16361 | ENSG00000095397 | 607928 | 9q32 | whirlin | 20301515[PMID] |
| PDZD7 | ORPHA:231178Usher syndrome type 2 | Modifying germline mutation in | Assessed | HGNC:26257 | ENSG00000186862 | 612971 | 10q24.31 | PDZ domain containing 7 | 20440071[PMID] |
5
Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 15178965[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Denmark | Value and class | Validated | 9212179[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.2 / 100 000 | Germany | Value and class | Validated | 12107518[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.2 / 100 000 | United Kingdom | Value and class | Validated | 9135408[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.6 / 100 000 | Norway | Value and class | Validated | 3594933[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.2 / 100 000 | Spain | Value and class | Validated | 15178965[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.5 / 100 000 | Finland | Value and class | Validated | 5516287[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.4 / 100 000 | United States | Value and class | Validated | 6885960[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.2 / 100 000 | Colombia | Value and class | Validated | 1756603[PMID] |
| Point prevalence | 1-9 / 100 000 | 3 / 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.
6
HPO phenotypes
37 annotations · validated 2024-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0001751 | Abnormal vestibular function | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000618 | Blindness | |
| HP:0000662 | Nyctalopia | |
| HP:0000529 | Progressive visual loss | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0008568 | Vestibular areflexia | |
| HP:0001123 | Visual field defect | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0008499 | High hypermetropia | |
| HP:0000545 | Myopia | |
| Occasional (29-5%) | ||
| HP:0011025 | Abnormality of cardiovascular system physiology | |
| HP:0011073 | Abnormality of dental color | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000739 | Anxiety | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000483 | Astigmatism | |
| HP:0000670 | Carious teeth | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0031936 | Delayed ability to walk | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000716 | Depression | |
| HP:0003457 | EMG abnormality | |
| HP:0008947 | Floppy infant | |
| HP:0000738 | Hallucinations | |
| HP:0010780 | Hyperacusis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000691 | Microdontia | |
| HP:0003198 | Myopathy | |
| HP:0000639 | Nystagmus | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0000709 | Psychosis | |
| HP:0000360 | Tinnitus | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 35076463[PMID]_20301515[PMID]_20301442[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/886
- This record as JSON: /data/d/886.json