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3 OMIM references -
3 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Usher syndrome type 3
Combined oxidative phosphorylation defect type 17

CLRN1 ELAC2
HARS
MT-TS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HARS
(0.63)
ELAC2



Citations in the biomedical literature:


Usher syndrome type 3
CLRN1 HARS MT-TS2
Combined oxidative phosphorylation defect type 17
ELAC2



Usher syndrome type 3
Combined oxidative phosphorylation defect type 17

Synonym(s):
- USH3

Synonym(s):
- COXPD17

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 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
External references:
1 OMIM reference -
No MeSH references

Usher syndrome type 3

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


Combined oxidative phosphorylation defect type 17

(no data available)