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Results 1 - 10 of 13 for Optic atrophy 3
  1. OPA3 gene 
    ... FLJ22187 FLJ25932 MGA3 MGC75494 OPA3 protein OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Tests ... Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  2. WFS1 gene 
    ... ear cells. Histochem Cell Biol. 2003 Mar;119(3):247-56. doi: ... atrophy associated with hearing impairment and impaired glucose regulation ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  3. OPA1 gene 
    ... with OPA1 mutations. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. ... impair oxidative phosphorylation and mitochondrial fusion. Brain. 2008 ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  4. MFN2 gene 
    ... carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  5. CISD2 gene 
    ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ...
    https://medlineplus.gov/genetics/gene/cisd2 - Genetics
  6. ATP1A3 gene 
    ... group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. This specific presentation is ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  7. FA2H gene 
    ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  8. CLPB gene 
    ... H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  9. OAT gene 
    ... codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest. 1988 Feb;81(2):630-3. doi: 10.1172/JCI113365. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/oat - Genetics
  10. TPP1 gene 
    ... rapid eye movements (saccades), and trouble moving the eyes side-to-side (oculomotor apraxia). People with SCAR7 have progressive loss of cells (atrophy) of various parts of the brain, particularly within ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
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