leukoencephalopathy with vanishing white matter

Term ID

DOID:0060868

Synonyms

CACH
CACH/VWM
childhood ataxia with central nervous system hypomyelination
Cree leukoencephalopathy
ovarioleukodystrophy
vanishing white matter leukodystrophy

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. (4)

References

GARD:231
ICD10CM:E75.2
OMIM:PS603896
ORDO:135
ORDO:157713
ORDO:157716
ORDO:157719

Ontology

Human Disease ( DOID:0060868 )

Relationships

is a type of: autosomal recessive disease leukodystrophy

autosomal recessive disease leukodystrophy Show first 5 Terms
has subtype: leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter 5

leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter 5 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations