ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
15 signs/symptoms

Combined oxidative phosphorylation defect type 17

Usher syndrome type 3


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

Citations in the biomedical literature:

Combined oxidative phosphorylation defect type 17		Usher syndrome type 3
	Synonym(s): - COXPD17		Synonym(s): - USH3

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 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)