leukoencephalopathy with vanishing white matter

Summary

DOID:0060868 - leukoencephalopathy with vanishing white matter

Disease Ontology 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.

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: eif2b2, eif2b3, eif2b5

MIM:

MIM:603896 - leukoencephalopathy with vanishing white matter; vwm

MIM:603896 - leukoencephalopathy with vanishing white matter; vwm

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), leukodystrophy (is_a)