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Ontology Browser

Term:
leukoencephalopathy with vanishing white matter (DOID:0060868)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7) Pig: (6)
Parent Terms Term With Siblings Child Terms
leukodystrophy +     
ovarian disease +     
Acromesomelic Dysplasia, Demirhan Type  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adrenoleukodystrophy +   
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alexander Disease  
anovulation  
CADASIL +   
Canavan disease  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency 12  
Cystic Leukoencephalopathy without Megalencephaly  
Demyelinating Autoimmune Diseases, CNS +   
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
endometriosis of ovary 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Hereditary Central Nervous System Demyelinating Diseases +   
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Labrune Syndrome  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
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 that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27. (DO)
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
megalencephalic leukoencephalopathy with subcortical cysts +   
oophoritis +  
ovarian cyst +   
ovarian dysfunction +   
ovarian hyperstimulation syndrome  
Ovarian Neoplasms +   
ovarian stromal hyperthecosis 
Ovary Reperfusion Injury  
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Posterior Leukoencephalopathy Syndrome  
premature menopause +   
PRIMARY OVARIAN FAILURE +   
Progressive Leukodystrophy, Early Childhood-Onset  
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
Ribose 5-Phosphate Isomerase Deficiency  
spastic ataxia 3  
Telencephalic Leukoencephalopathy 
tuberculous oophoritis 
vascular dementia +   
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: CACH ;   CLE ;   Cree leukoencephalopathy ;   VWM ;   childhood ataxia with central nervous system hypomyelination ;   childhood ataxia with central nervous system hypomyelinization ;   vanishing white matter leukodystrophy ;   vanishing white matter leukodystrophy with ovarian failure
Narrow Synonyms: ovarioleukodystrophy
Primary IDs: MESH:C565836
Alternate IDs: OMIM:603896
Xrefs: GARD:231 ;   NCI:C122664 ;   ORDO:135
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11704758 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9710032 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.