loading...| Preferred Name |
Canavan Disease |
|
| Synonyms |
Familial Form of Canavan Disease|Canavan-van Bogaert-Bertrand Disease|Spongy Disease of Central Nervous System|Leukodystrophy, Spongiform|Spongy Disease of White Matter|Aspartoacylase Deficiency Disease |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12529 |
|
| abbrev | ||
| class_or_indiv |
true |
|
| 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 (MeSH). |
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D017825 |
|
| external_ids |
meshUID:D017825 |
|
| label |
Canavan Disease |
|
| mod_date |
2007-10-05 |
|
| preferred_label |
Canavan Disease |
|
| prefixIRI |
birnlex_12529 |
|
| retired |
false |
|
| synonyms |
Familial Form of Canavan Disease|Canavan-van Bogaert-Bertrand Disease|Spongy Disease of Central Nervous System|Leukodystrophy, Spongiform|Spongy Disease of White Matter|Aspartoacylase Deficiency Disease |
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12526 |