Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 71 for Optic atrophy 3
  1. Costeff syndrome 
    ... aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  2. Autosomal dominant optic atrophy and cataract 
    ... atrophy, cataract, and neurologic disorder Genetic Testing Registry: Optic atrophy 3 Autosomal dominant optic atrophy and cataract National Organization ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  3. 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
  4. 3-methylglutaconyl-CoA hydratase deficiency 
    ... speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  5. Dilated cardiomyopathy with ataxia syndrome 
    ... visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss.DCMA syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  6. Familial dysautonomia 
    ... and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry ... affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia ...
    https://medlineplus.gov/genetics/condition/familial-dysautonomia - Genetics
  7. 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
  8. 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
  9. Leber hereditary optic neuropathy 
    ... to their children. Hereditary optic neuroretinopathy Leber hereditary optic atrophy Leber optic atrophy Leber's hereditary optic neuropathy Leber's optic ...
    https://medlineplus.gov/.../leber-hereditary-optic-neuropathy - Genetics
  10. Wolfram syndrome 
    ... the eyes to the brain (a condition called optic atrophy). People with Wolfram syndrome often also have pituitary ... who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · next