Leukoencephalopathy with Vanishing White Matter (CACH)

Leukoencephalopathy with Vanishing White Matter(来自ICD-11)
别称:
Vanishing White Matter Disease
Ovarioleukodystrophy
Childhood Ataxia with Central Nervous System Hypomyelination
Vanishing White Matter Leukodystrophy
Childhood Ataxia with Central Nervous System Hypomyelinization
Myelinosis Centralis Diffusa
Cree Leukoencephalopathy
Cach Syndrome
Cach/vwm
Cach
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Leukoencephalopathy with Vanishing White Matter, also known as vanishing white matter disease, is related to leukoencephalopathy with vanishing white matter 1 and leukoencephalopathy with vanishing white matter 5, and has symptoms including lethargy, muscle spasticity and seizures. An important gene associated with Leukoencephalopathy with Vanishing White Matter is EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon), and among its related pathways/superpathways are Metabolism of proteins and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include spinal cord and brain, and related phenotypes are macrocephaly and blindness
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MALACARDS
AR
Child
<1/1000000
59
291
70

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