Log In|Sign Up
ENLeukoencephalopathy with Vanishing White Matter (CACH)
Alias:
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
Favorite
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
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
