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Usher syndrome type 2
3 OMIM references -
4 associated genes
16 connected diseases
21 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Retinitis pigmentosa
X-linked intellectual deficit, Najm type
Cenani-Lenz syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Postsynaptic congenital myasthenic syndromes
Primary peritoneal carcinoma
Sclerosteosis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Usher syndrome type 1
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Synonym(s):
- USH2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
DFNB31 Q9P202607928
GPR98 Q8WXG9602851
PDZD7 Q9H5P4612971
USH2A O75445608400
Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Autosomal recessive inheritance
- Night blindness / hemeralopia
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Visual loss / blindness / amblyopia

Frequent
- Cataract / lens opacification
- Myopia

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Complete / partial microdontia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Dental staining anomaly / spotted teeth / erythrodontia
- Enamel anomaly
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Multiple caries
- Nystagmus
- Psychosis / schizophrenia / maniac disorder