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Stargardt disease
3 OMIM references -
4 associated genes
8 connected diseases
No signs/symptoms info
Disease Type of connection
Retinitis pigmentosa
Cone rod dystrophy
Achromatopsia
Congenital ichthyosis - intellectual deficit - spastic quadriplegia
Progressive cone dystrophy
Retinal macular dystrophy type 2
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Synonym(s):
- Fundus flavimaculatus
- Macular dystrophy with flecks
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ABCA4 P78363601691
CNGB3 Q9NQW8605080
ELOVL4 Q9GZR5605512
PROM1 O43490604365
No signs/symptoms info available.