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Results 1 - 10 of 12 for Optic atrophy 5
  1. OPA3 gene 
    ... condition. More About This Health Condition At least five mutations in the OPA3 gene have been found to cause Costeff syndrome. This condition is characterized by vision loss due to optic nerve atrophy, delayed development, and movement problems. Costeff syndrome is ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  2. WFS1 gene 
    ... Bille M, Rosenberg T, Tranebjaerg L. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet. 2006 May;43(5):435-40. doi: 10.1136/jmg.2005.034892. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  3. OPA1 gene 
    ... data. Hum Mutat. 2015 Jan;36(1):20-5. doi: 10.1002/humu.22703. Epub 2014 Dec 1. ... dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. ...
    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. 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
  6. 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
  7. 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
  8. CLPB gene 
    ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  9. OAT gene 
    ... helps convert ornithine into another molecule called pyrroline-5-carboxylate (P5C). P5C can be converted into the amino acids glutamate and proline. More than 60 OAT gene mutations have been found to cause gyrate atrophy of the choroid and retina (often shortened to ...
    https://medlineplus.gov/genetics/gene/oat - Genetics
  10. PNKP gene 
    ... problems with side-to-side movement of the eyes (oculomotor apraxia). These problems are due to the ... Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics
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