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Disease Canavan Disease

Name Canavan Disease
Synonyms ACY2 Deficiency | Aminoacylase 2 Deficiency | ASPA Deficiency | Aspartoacylase Deficiency | ASP Deficiency | Canavan Disease, Familial Form | Canavan Disease, Infantile | Canavan Disease, Juvenile | Canavan Disease, Neonatal | Canavan Disease, Sporadic Form | Canavan Disease, Type I | Canavan Disease, Type II | Canavan Disease, Type III | Canavan van Bogaert Bertrand Disease | Canavan-van Bogaert-Bertrand Disease | Deficiency Disease, Aspartoacylase | Disease, Canavan | Disease, Canavan-van Bogaert-Bertrand | Disease, Von Bogaert-Bertrand | Familial Form of Canavan Disease | Infantile Canavan Disease | Juvenile Canavan Disease | Leukodystrophy, Spongiform | Neonatal Canavan Disease | Spongiform Leukodystrophy | Spongy Degeneration Of Central Nervous System | Spongy Degeneration of Infancy | Spongy Degeneration of the Brain | Spongy Degeneration of the Central Nervous System | Spongy Degeneration of White Matter In Infancy | Spongy Disease of Central Nervous System | Spongy Disease of White Matter | Sporadic Form of Canavan Disease | Syndrome, Van Bogaert-Bertrand | Type I Canavan Disease | Type II Canavan Disease | Type III Canavan Disease | Van Bogaert Bertrand Syndrome | Van Bogaert-Bertrand Syndrome | Von Bogaert Bertrand Disease | Von Bogaert-Bertrand Disease
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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D017825
OMIM® ID 271900
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Leukoencephalopathies Has associated chemicals Has associated genes Has associated exposure references Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Demyelinating Diseases Has associated chemicals Has associated genes Has associated exposure references Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Canavan Disease Has associated chemicals Has associated genes

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