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310 Possible Causes for PRO230ALA, RDH12

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  • Macular Degeneration, Early Onset

    Posted by and Miriam Garcia-Fernandez on Oct 7, 2013 in Hereditary diseases Comments Off on Mutation in the Exon 6 of Gene RDH12 Associated to Severe Early-onset Macular Degeneration[evrs.eu] Poster 4 Joaquin Castro Navarro Advantages: To show the clinical evolution of a child with a novel mutation in exon 6 of gene RDH12 (gene typically associated with Leber[evrs.eu] 152443.2RefSeq), p.Ala269fs and exon 6: c.701G A (NM_152443.2RefSeq), p.Arg234His.Two years later BCVA decreased to Take home message: A novel mutation in exon 6 of gene RDH12[evrs.eu]

    Missing: PRO230ALA
  • Leber Congenital Amaurosis

    CONCLUSIONS: Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.[ncbi.nlm.nih.gov] We report 2 patients with a clinical phenotype of LCA associated with novel mutations of the RDH12 gene.[ncbi.nlm.nih.gov] Mutation screening revealed a novel p.Gln141* mutation in the AIPL1 gene and a previously described p.Thr49Met mutation in the RDH12 gene in a homozygous state.[ncbi.nlm.nih.gov]

    Missing: PRO230ALA
  • Usher Syndrome Type I

    PDE6H, PDZD7, PEX7, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3, RDH12[asperbio.com]

    Missing: PRO230ALA
  • Stargardt Disease

    Multiple ABCA4 variations, ABCA4 RDH12, and ABCA4 BEST1 variations are also observed and the disease severity is found proportionate to the variation burden.[ncbi.nlm.nih.gov]

    Missing: PRO230ALA
  • Retinitis Pigmentosa 9

    Fund For Sight: Focusing on the Cure, visit rdh12.org[theguardian.com] BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12[centogene.com] […] of the 15 families who constitute the US-based support group, the RDH12 Fund for Sight .[theguardian.com]

    Missing: PRO230ALA
  • Usher Syndrome

    PDE6H, PDZD7, PEX7, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3, RDH12[asperbio.com]

    Missing: PRO230ALA
  • Central Areolar Choroidal Dystrophy

    […] gene) Leber congenital amaurosis (NGS panel for 20 genes) Cone-rod dystrophy (NGS panel for 36 genes) Leber congenital amaurosis (deletion/duplication analysis on GUCY2D, RDH12[cgcgenetics.com]

    Missing: PRO230ALA
  • Leber Congenital Amaurosis Type 9

    Genes (full coding region): AIPL1, CABP4, CEP290 (intronic position c.2991 1655A G included), CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12[asperbio.com] These genes GUCY2D, RPE65, AIPL1, RPGRIP1, CRB1, CRX, and RDH12 genes were detected with molecular biology techniques.[altiusdirectory.com] Each type is caused by a defect in a different gene important for normal visual function, these genes include RPE65 (LCA 2); AIPL1 (LCA 4); CEP290 (LCA 10) and RDH12 (LCA[moorfields.nhs.uk]

    Missing: PRO230ALA
  • Acatalasia

    GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12[mendelian.co]

    Missing: PRO230ALA
  • Retinal Dystrophy

    […] included previously described mutations in ABCA4 (c.6088C T,p.R2030*; c.5882G A,p.G1961E), BBS2 (c.1895G C,p.R632P), GUCY2D (c.2512C T,p.R838C), PROM1 (c.1117C T,p.R373C), RDH12[ncbi.nlm.nih.gov] GUCY2D (17p13.1), IMPDH1 (7q31.3-q32), IMPG1 (6q14.2-q15), IMPG2 (3q12.2-q12.3), IQCB1 (3q21.1), KCNJ13 (2q37), LCA5 (6q14), LRAT (4q32.1), MERTK (2q14.1), NMNAT1 (1p36.22), RDH12[orpha.net] RESULTS: We identified mutations in 14 known retinal dystrophy genes in 20/26 (77%) families: ABCA4, CERKL, CLN3, CNNM4, C2orf71, IQCB1, LRAT, MERTK, NMNAT1, PCDH15, PDE6B, RDH12[ncbi.nlm.nih.gov]

    Missing: PRO230ALA

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