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27 Possible Causes for Mutation in the ELOVL4 Gene

  • Stargardt Macular Degeneration

    In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition.[ghr.nlm.nih.gov] In most cases, this process is due to mutations in the ABCA4 gene. Less commonly, the disease is due to mutations in the gene ELOVL4.[ivami.com] […] in the ELOVL4 gene.[spandidos-publications.com]

  • Macular Degeneration

    Abstract Stargardt macular dystrophy 3 (STGD3) is caused by dominant mutations in the ELOVL4 gene.[ncbi.nlm.nih.gov]

  • Punctate Keratitis

    A form of Sjogren-Larsson syndrome with more severe neurologic signs is caused by recessive mutations in ELOVL4 (6p14,1), Mutations in the same gene have been identified in[disorders.eyes.arizona.edu]

  • Benign Concentric Annular Macular Dystrophy

    This interval encompasses several retinal dystrophy loci, including the ELOVL4 gene, mutated in autosomal dominant Stargardt disease, and the RIM1 gene, mutated in autosomal[ncbi.nlm.nih.gov]

  • Retinal Macular Dystrophy Type 2

    […] in the ABCA4 gene. [6] STGD4: A rare dominant defect in the PROM1 gene. [7] [5] STGD3: A rare dominant form of Stargardt disease caused by mutations in the ELOVL4 gene.[en.wikipedia.org] It is certainly caused by defects in the ABCA4 gene, but whether changes to other genes such as PROM1 or ELOVL4, or missense mutations play a role remains to be seen.[en.wikipedia.org] Stargardt disease is the most common inherited single gene retinal disease. [1] It usually has an autosomal recessive inheritance caused by mutations in the ABCA4 gene.[en.wikipedia.org]

  • Fleck Retina of Kandori

    Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol Vis Sci . 2001;42:3331-3336.[healio.com] The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefe's Arch Clin Exp 2005;243:90-100. 5. Zhang K, Kniazeva M, Han M, et al.[reviewofophthalmology.com] […] within the ELOVL4 and PROM1 genes (STGD3 and STGD4, respectively). 5,7 This highlights the concept of genetic heterogeneity, defined as one phenotype that can be caused by[reviewofophthalmology.com]

  • Spastic Ataxia with Congenital Miosis

    SCA34 is due to a mutation in the ELOVL4 gene (6q14). SCA34 is inherited in an autosomal dominant manner and genetic counseling is possible.[findzebra.com]

  • Sjogren-Larsson Syndrome

    A form of Sjogren-Larsson syndrome with more severe neurologic signs is caused by recessive mutations in ELOVL4 (6p14,1), Mutations in the same gene have been identified in[disorders.eyes.arizona.edu]

  • Retinitis pigmentosa, Y-Linked

    We therefore considered ELOVL4 to be a good candidate for the RP25 gene and performed mutational analysis of ELOVL4 in RP families linked to this locus.[jmg.bmj.com] In conclusion, we have conducted a mutational screen in ELOVL4 , the gene responsible for STGD3 and ADMD in ARRP families linked to RP25 .[jmg.bmj.com] A single 5 bp deletion of a novel gene called ELOVL4 was identified, which segregates with all affected members of the STGD3 and ADMD families.[jmg.bmj.com]

  • Retinal Pigmentary Dystrophy

    mutations; the ELOVL genes are involved in fatty acid elongation, metabolism and membrane maintenance Kutkowska-Kazmierczak 18 ; Mueller 18 CLCC1, RP32 ; 268000, 609913,[sph.uth.edu] […] features, deafness and visual abnormalities including optic atrophy; similar findings were reported by independent investigators; disease features overlap with recessive ELOVL4[sph.uth.edu]

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