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Severe early-childhood-onset retinal dystrophy

4 associated genes
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
2 associated genes
8 signs/symptoms

Severe early-childhood-onset retinal dystrophy

Choroideremia

LCA5	(UniProt - OMIM)		CHM	(UniProt - OMIM)
LRAT	(UniProt - OMIM)		RPE65	(UniProt - OMIM)
RPE65	(UniProt - OMIM)
SPATA7	(UniProt - OMIM)


COMMON GENES	RPE65

Citations in the biomedical literature:

Severe early-childhood-onset retinal dystrophy		Choroideremia
	Synonym(s): - EOSRD - Early-onset severe retinal dystrophy - SECORD		Synonym(s): - CHM - Tapetochoroidal dystrophy

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: x-linked recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D015794

Choroideremia
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Anomalies of eyes and vision - Mild visual loss / impaired visual acuity - Myopia - Night blindness / hemeralopia - Retinitis pigmentosa / retinal pigmentary changes - X-linked recessive inheritance Frequent - Visual loss / blindness / amblyopia
Severe early-childhood-onset retinal dystrophy
(no data available)