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Results 1 - 10 of 22 for Leukoencephalopathy with vanishing white matter 1
  1. MLC1 gene 
    ... More About This Health Condition KIAA0027 LVM megalencephalic leukoencephalopathy with subcortical cysts 1 gene product MLC MLC1_HUMAN VL Tests of ... regulated anion currents. Hum Mol Genet. 2013 Nov 1;22(21):4405-16. doi: ... leukoencephalopathy with subcortical cysts: an update and extended mutation ...
    https://medlineplus.gov/genetics/gene/mlc1 - Genetics
  2. CSF1R gene 
    ... Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25;44( ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  3. HEPACAM gene 
    ... E, Estevez R. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. Neurogenetics. 2014 Mar;15(1):41-8. doi: 10.1007/s10048-013-0381- ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
  4. DARS2 gene 
    ... Scheper GC, Gunal DI, van der Knaap MS. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci. 2008 Oct 15;273(1-2):118-22. doi: 10.1016/j.jns. ...
    https://medlineplus.gov/genetics/gene/dars2 - Genetics
  5. EIF2B1 gene 
    ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. More About This Health Condition EI2BA_HUMAN EIF-2B EIF-2Balpha EIF2B EIF2BA eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD) eukaryotic translation initiation factor 2B, subunit ...
    https://medlineplus.gov/genetics/gene/eif2b1 - Genetics
  6. EARS2 gene 
    ... Disease Spectrum of LTBL. Neuropediatrics. 2016 Jan;47(1):64-7. doi: ... Leukoencephalopathy with thalamus and brainstem involvement and high lactate ' ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  7. EIF2B5 gene 
    ... identified in about 65 percent of people with leukoencephalopathy with vanishing white matter, including those with a ... and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy) and some affected females with a variant of ...
    https://medlineplus.gov/genetics/gene/eif2b5 - Genetics
  8. HTRA1 gene 
    ... cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL. This condition is characterized ...
    https://medlineplus.gov/genetics/gene/htra1 - Genetics
  9. EIF2B4 gene 
    ... have been identified in a few people with leukoencephalopathy with vanishing white matter, including some affected females ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. More About This Health ...
    https://medlineplus.gov/genetics/gene/eif2b4 - Genetics
  10. CLCN2 gene 
    ... gene have been found to cause CLCN2-related leukoencephalopathy. This condition is characterized primarily by problems with ... the other signs and symptoms of CLCN2-related leukoencephalopathy. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/clcn2 - Genetics
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