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Severe early-childhood-onset retinal dystrophy
4 associated genes
15 connected diseases
No signs/symptoms info
Disease Type of connection
Leber congenital amaurosis
Retinitis pigmentosa
Choroideremia
Alternating hemiplegia of childhood
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Familial or sporadic hemiplegic migraine
Rapid-onset dystonia-parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Progressive retinal dystrophy due to retinol transport defect
Synonym(s):
- EOSRD
- Early-onset severe retinal dystrophy
- SECORD
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
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
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
LCA5 Q86VQ0611408
LRAT O95237604863
RPE65 Q16518180069
SPATA7 Q9P0W8609868
No signs/symptoms info available.