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Summary Literature (0)
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, CACH/VWM, childhood ataxia with central nervous system hypomyelination, CLE, Cree leukoencephalopathy, ovarioleukodystrophy, vanishing white matter leukodystrophy

Xenbase Genes : eif2b3, eif2b1, eif2b2, eif2b5, eif2b4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011380 - female external urethral sphincter

MIM:
MIM:603896 - LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1; VWM1

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)