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8 Possible Causes for Caused by Mutation in the Bestrophin-1 Gene

  • Best Disease

    Best disease is a genetic disease and is caused by mutations in the BEST1 gene which produces the protein Bestrophin-1.[fightingblindness.ie] What is the cause of Best disease and how is it inherited?[fightingblindness.ie]

  • Vitreoretinochoroidopathy

    ADVIRC is caused by mutations in the bestrophin-1 (BEST1) gene.[genome.jp] ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision.[ghr.nlm.nih.gov]

  • Snowflake Vitreoretinal Degeneration

    ADVIRC is caused by mutations in the bestrophin-1 ( BEST1 ) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment ...[kegg.jp]

  • Bothnia Retinal Dystrophy

    ADVIRC is caused by mutations in the bestrophin-1 ( BEST1 ) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment ...[kegg.jp]

  • Autosomal Recessive Bestrophinopathy

    The gene encodes bestrophin-1 (Best1), a homo-oligomeric, integral membrane protein localized to the basolateral plasma membrane of the retinal pigment epithelium (RPE).[mayoclinic.org] […] heterozygosity for mutations in the BEST1 gene ({607854}). x do [omim_vocabulary:x-do] x orphanet [omim_vocabulary:x-orphanet] x umls [omim_vocabulary:x-umls] x uniprot [[bio2rdf.org] Over 250 disease-causing mutations have been identified in the BEST1 gene to date associated with a broad range of phenotypes, including BVMD, adult vitelliform macular dystrophy[link.springer.com]

  • Adult-Onset Foveomacular Vitelliform Dystrophy

    Both Best’s disease and AOFVD are autosomal-dominant, with variable expression and incomplete penetrance. 1 Best’s disease is caused by mutations in the VMD2 gene, which encodes[paojournal.com] […] the protein bestrophin.[paojournal.com]

  • Macular Degeneration, Early Onset

    Best disease is a form of macular degeneration that is typically characterized by early onset and is caused by mutations in a gene known as BEST1 (bestrophin 1).[britannica.com] Other forms of macular degeneration Macular degeneration has five known genetic forms for which the causative genes have been identified.[britannica.com]

  • Retinal Dystrophy

    Mutations in the genes BEST1 (11q12), PRPH2 (6p21.1) or IMPG1 (6q14.2-q15) (encoding bestrophin-1, peripherin and SPACR respectively) have been found in some individuals with[orpha.net] […] increased workload of metabolism and phagocytosis on the RPE cells in conjunction with other disease-related factors (such as age, genetic predisposition, and environmental causes[orpha.net]

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