RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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)
Synonyms:
exact_synonym:
ACY2 Deficiency; ASP Deficiency; ASPA Deficiency; Aminoacylase 2 Deficiency; Aspartoacylase Deficiency; Aspartoacylase Deficiency Disease; Canavan Disease, Familial Form; Canavan Disease, Mild; Canavan Disease, Sporadic Form; Canavan van Bogaert Bertrand Disease; Familial Form of Canavan Disease; Infantile Canavan Disease; Juvenile Canavan Disease; Neonatal Canavan Disease; Spongiform Leukodystrophy; Spongy Degeneration Of Central Nervous System; Spongy Degeneration of Infancy; Spongy Degeneration of White Matter In Infancy; Spongy Degeneration of the Brain; Spongy Degeneration of the Central Nervous System; Spongy Disease of Central Nervous System; Spongy Disease of White Matter; Sporadic Form of Canavan Disease; Type I Canavan Disease; Type II Canavan Disease; Type III Canavan Disease; Van Bogaert Bertrand Syndrome; Von Bogaert Bertrand Disease
ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar Annotator: match by OMIM:271900 CTD Direct Evidence: marker/mechanism
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