Preferred Name

Canavan Disease [Disease/Finding]

Synonyms

Spongy Degeneration Of Central Nervous System

ID

http://purl.bioontology.org/ontology/NDFRT/N0000003642

altLabel

Spongy Degeneration Of Central Nervous System

Spongy Degeneration of White Matter In Infancy

Spongy Degeneration of the Central Nervous System

Spongy Degeneration of the Brain

Canavan Disease

Van Bogaert-Bertrand Syndrome

Canavan-van Bogaert-Bertrand Disease

Von Bogaert-Bertrand Disease

Spongy Disease of White Matter

Spongy Degeneration of Infancy

Leukodystrophy, Spongiform

Spongy Disease of Central Nervous System

cui

C0206307

MESH DEFINITION

A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)

MESH DUI

D017825

MeSH name

Canavan Disease

MESH UI

M0026932

NDFRT kind

DISEASE_KIND

notation

N0000003642

NUI

N0000003642

prefLabel

Canavan Disease [Disease/Finding]

SNOMED CID

80544005

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000004096

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