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Usher syndrome type 3
3 OMIM references -
3 associated genes
8 connected diseases
15 signs/symptoms
Disease Type of connection
Retinitis pigmentosa
Blackfan-Diamond anemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive nonsyndromic intellectual deficit
Combined oxidative phosphorylation defect type 17
Dubowitz syndrome
Familial prostate cancer
Mandibulofacial dysostosis-microcephaly syndrome
Synonym(s):
- USH3
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 / 1 000 000
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
CLRN1 P58418606397
HARS P12081142810
MT-TS2 590085
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
- Astigmatism
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Hypermetropia

Occasional
- Delirium / hallucination
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Psychosis / schizophrenia / maniac disorder