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Results 1 - 10 of 13 for Optic atrophy 2
  1. MFN2 gene 
    ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando M, Hashiguchi A, ... V, Shy M, Vance JM. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 2006 Feb;59(2):276-81. ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  2. OPA1 gene 
    ... V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  3. WFS1 gene 
    ... gene as a frequent cause of autosomal dominant optic atrophy and hearing ... and WFS1 gene. Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  4. FA2H gene 
    ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H-related leukodystrophy. However, these ... ClinVar Alderson NL, Rembiesa ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  5. OPA3 gene 
    ... gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly worsening vision ... in the OPA3 gene that cause autosomal dominant optic atrophy and cataract occur in one copy of the ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  6. CISD2 gene 
    ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ... demands, such as nerve cells in the brain, eyes, or gastrointestinal tract, are most ... CDGSH iron-sulfur ...
    https://medlineplus.gov/genetics/gene/cisd2 - Genetics
  7. 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
  8. SMCHD1 gene 
    ... a disorder characterized by muscle weakness and wasting (atrophy) that worsens slowly over time. Two forms of the disorder have been described: type ...
    https://medlineplus.gov/genetics/gene/smchd1 - 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 ...
    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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