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35 Possible Causes for Mutation in the RP9 Gene, Progressive Peripapillary Chorioretinal Atrophy

  • Retinitis Pigmentosa 9

    Additional Disease Information for RP9 No data available for Genatlas for RP9 Gene PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing[genecards.org] , Dominant atrophia greata, Dominant central areolar choroidal dystrophy, X-linked choroideremia, Choroidal atrophy, Central areolar, Central, Peripapillary, Dominant progressive[google.com] HGMD Public site users Gene symbol Chromosomal location Gene name Mutation total Log in RP9 7p14.3 Retinitis pigmentosa 9 (autosomal dominant) 3 If you are already a registered[hgmd.cf.ac.uk]

  • Retinitis Pigmentosa 32

    ) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] […] visual impairment (if the macula is affected) Diagnostics Fundoscopy: whitish elongation of foci in the peripapillary region and at the posterior pole caused by chorioretinal[amboss.com] An additional, unconfirmed autosomal dominant form may be caused by mutation in the ARL3 gene.[bredagenetics.com]

  • Retinitis Pigmentosa 11

    Why mutations in such “housekeeping” genes produce a retina-specific phenotype is currently unknown.[nature.com] , Dominant atrophia greata, Dominant central areolar choroidal dystrophy, X-linked choroideremia, Choroidal atrophy, Central areolar, Central, Peripapillary, Dominant progressive[google.com] Intriguingly, mutations in six ubiquitously expressed splicing factors are responsible for adRP ( PRPF3 , PRPF6 , PRPF8 , PRPF31 , snRNP200 and RP9 ).[nature.com]

  • Pigmented Paravenous Retinochoroidal Atrophy

    ) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes[orpha.net] atrophy: pericentral pigmentary retinopathy, helicoid peripapillary chorioretinal degeneration, serpiginous choroidopathy, gyrate atrophy chorioderemia, sarcoidosis, syphilis[eyewiki.org] . • Case 1 shows the progression of a patient with high myopia and pathologic chorioretinal atrophy.[reviewofoptometry.com]

    Missing: Mutation in the RP9 Gene
  • Lafora Disease

    Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RP1 gene Retinitis pigmentosa (autosomal dominant) Mutation panel in genes CA4, FSCN2, IMPDH1, NRL, PRPF3[pentacorelab.hu] , PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS and PNR Retinitis pigmentosa (autosomal dominant) NGS of 26 gene panel: AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1[pentacorelab.hu] […] the RPGR gene Retinitis Pigmentosa Detection of deletions and/or duplications in USH2A gene by MLPA Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RHO gene[pentacorelab.hu]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Retinitis Pigmentosa 27
    Missing: Mutation in the RP9 Gene
  • Spondylocostal Dysostosis

    Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RP1 gene Retinitis pigmentosa (autosomal dominant) Mutation panel in genes CA4, FSCN2, IMPDH1, NRL, PRPF3[pentacorelab.hu] , PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS and PNR Retinitis pigmentosa (autosomal dominant) NGS of 26 gene panel: AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1[pentacorelab.hu] […] the RPGR gene Retinitis Pigmentosa Detection of deletions and/or duplications in USH2A gene by MLPA Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RHO gene[pentacorelab.hu]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Retinitis Pigmentosa 41

    […] in the RP9 gene on chromosome 7p14.[malacards.org] An important gene associated with Retinitis Pigmentosa 9 is RP9 (RP9, Pre-MRNA Splicing Factor).[malacards.org] Affiliated tissues include eye , bone and retina , and related phenotypes are cataract and nyctalopia Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation[malacards.org]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Retinopathy

    ) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] […] by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS Keywords - Cellular component i Nucleus Pathology & Biotech i Involvement in disease i Retinitis pigmentosa 9 (RP9[uniprot.org]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Autosomal Recessive Spastic Paraplegia Type 28

    Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RP1 gene Retinitis pigmentosa (autosomal dominant) Mutation panel in genes CA4, FSCN2, IMPDH1, NRL, PRPF3[pentacorelab.hu] , PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS and PNR Retinitis pigmentosa (autosomal dominant) NGS of 26 gene panel: AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1[pentacorelab.hu] […] the RPGR gene Retinitis Pigmentosa Detection of deletions and/or duplications in USH2A gene by MLPA Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RHO gene[pentacorelab.hu]

    Missing: Progressive Peripapillary Chorioretinal Atrophy

Further symptoms