Leukoencephalopathy with Vanishing White Matter 1 (VWM1)

Alias:

Leukoencephalopathy with Vanishing White Matter

Cach Syndrome

Childhood Ataxia with Diffuse Central Nervous System Hypomyelination

Childhood Ataxia with Central Nervous System Hypomyelinization

Myelinosis Centralis Diffusa

Vwm1

Cach

Leukoencephalopathy with Vanishing White Matter 1, with or Without Ovarian Failure

Congenital or Early Infantile Cach Syndrome

Leukodystrophy with Vanishing White Matter

Vanishing White Matter Leukodystrophy

Juvenile or Adult Cach Syndrome

Vanishing White Matter Disease

Late Infantile Cach Syndrome

Cree Leukoencephalopathy

Cle

Vwm

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Leukoencephalopathy with Vanishing White Matter 1, also known as leukoencephalopathy with vanishing white matter, is related to leukoencephalopathy with vanishing white matter 4 and leukoencephalopathy with vanishing white matter 5. An important gene associated with Leukoencephalopathy with Vanishing White Matter 1 is EIF2B1 (Eukaryotic Translation Initiation Factor 2B Subunit Alpha), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and Peptide chain elongation. Affiliated tissues include brain and thalamus, and related phenotypes are brain imaging abnormality and dysmyelinating leukodystrophy

Related ID：

MALACARDS：LKN035

OMIM：603896

MESH：D056784