Leukoencephalopathy with Vanishing White Matter

Preferred Label : Leukoencephalopathy with Vanishing White Matter;

NCIt definition : A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes, resulting in deterioration of central nervous system's white matter. Usually, there are no signs and symptoms of the disorder at birth. During early childhood, affected individuals develop spasticity and ataxia which may be associated with deterioration of the metal function. Examination of the brain at autopsy reveals normal gray matter while the white matter is soft and gelatinous with numerous small cavities.;

Details

Origin ID

C122664;

UMLS CUI

C1858991;

Automatic exact mappings (from CISMeF team)
- leukoencephalopathies [MeSH Descriptor]
Currated CISMeF NLP mapping
- CACH syndrome [ORDO Disease]
- CACH syndrome [ICD-11 More detail]
- Leukoencephalopathy with vanishing white matter 1 [OMIM Phenotype]
- Vanishing white matter disease (disorder) [SNOMED CT concept]
- leukoencephalopathy with vanishing white matter [DO Concept]
- leukoencephalopathy with vanishing white matter [Disease (Nov.)]
- vanishing white matter leukodystrophy with ovarian failure [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CACH syndrome [ORDO Disease]
- Cree leukoencephalopathy [ORDO Disease]
- Leukoencephalopathy with vanishing white matter 1 [OMIM Phenotype]
- Vanishing white matter disease (disorder) [SNOMED CT concept]
- childhood ataxia with central nervous system hypomyelinization [MeSH concept]
- leukoencephalopathy with vanishing white matter [DO Concept]
- leukoencephalopathy with vanishing white matter [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

Keyword's position in hierarchy(ies) :

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