FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term leukoencephalopathy with vanishing white matter ID (Ontology) DOID:0060868 (Human Disease)
Definition A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.
Also Known As "CACH" ; "CACH/VWM" ; "childhood ataxia with central nervous system hypomyelination" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
cerebral degeneration            |
 |__leukodystrophy_______________|
                                 leukoencephalopathy with vanishing white matter  5 rec.
                                  |__leukoencephalopathy with vanishing white matter 1 1 rec.
                                  |__leukoencephalopathy with vanishing white matter 2 1 rec.
                                  |__leukoencephalopathy with vanishing white matter 3 1 rec.
                                  |__leukoencephalopathy with vanishing white matter 4 1 rec.
                                  |__leukoencephalopathy with vanishing white matter 5 1 rec.
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Is a autosomal recessive disease
leukodystrophy
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Synonyms
  • "CACH" EXACT OMO:0003012
    "CACH/VWM" EXACT OMO:0003012
    "childhood ataxia with central nervous system hypomyelination" EXACT
    "ovarioleukodystrophy" RELATED
    "vanishing white matter leukodystrophy" EXACT
Secondary IDs
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GARD:231
ICD10CM:E75.2
MIM:PS603896
ORDO:135
ORDO:157713
ORDO:157716
ORDO:157719