Disease: Adult-Onset Foveomacular Vitelliform Dystrophy

Name Adult-Onset Foveomacular Vitelliform Dystrophy

Synonyms -

Classification eye, genetic

Phenotypes Choroideremia; Color vision defect; Iris hypopigmentation; Retinal nonattachment; Visual field defect; Vitelliform-like macular lesions

Associated Genes IMPG1 (Withdrawn symbols: GP147, IPM150, SPACR ) , PRPH2 (Withdrawn symbols: CACD2, RDS, RP7, TSPAN22, rd2 ) , BEST1 (Withdrawn symbols: BEST, BMD, RP50, VMD2 ) , IMPG2 (Withdrawn symbols: IPM200, RP56 )

Mouse Orthologs Impg1 (Withdrawn symbols: A930015H12Rik ) , Prph2 (Withdrawn symbols: Nmf193, Rd-2, Rd2, Rds, rds ) , Best1 (Withdrawn symbols: Vmd2 ) , Impg2 (Withdrawn symbols: Rsbp )

Source ORPHA:99000 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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