loading...| Preferred Name |
Canavan Disease |
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| Synonyms |
Deficiency Disease, Aspartoacylase ACY2 DEFICIENCY |
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| Definitions |
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 (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0206307 |
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| altLabel |
Deficiency Disease, Aspartoacylase Aminoacylase 2 Deficiency sclérose cérébrale spongieuse de Canavan Spongy Degeneration of the Central Nervous System Spongy degeneration of central nervous system Canavan's disease (van Bogaert-Bertrand-Canavan) BRAIN, FAMILIAL SPONGY DEGENERATION Canavan's disease VAN BOGAERT-BERTRAND SYNDROME ASPA DEFICIENCY ASP DEFICIENCY Canavan Canavan-van Bogaert-Bertrand Disease Von Bogaert-Bertrand Disease dégénérescence spongieuse de la substance blanche du cerveau Dégénérescence spongieuse du système nerveux central Spongy Disease of White Matter Spongy Degeneration of Infancy Leukodystrophy, Spongiform Canavan-van-Bogaert-Bertr dis Spongy degeneration of white matter in infancy FAMILIAL IDIOCY WITH SPONGY DEGNERATION OF NEURAXIS Aspartoacylase Deficiency Spongy degeneration of white matter Maladie de Canavan-von Bogaërt Spongy degen white mttr in inf Déficit en aspartoacylase Spongy Disease of Central Nervous System Cavanan-van Bogaert-Bertrand disease ACY2 DEFICIENCY |
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| 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 (source : MSH) |
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| disease_has_associated_anatomic_site | ||
| has_finding_site | ||
| has_manifestation |
http://doe-generated-ontology.com/OntoAD#C0028738 http://doe-generated-ontology.com/OntoAD#C0235946 |
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| has_severity | ||
| hiddenLabel |
MaladieDeCanavan CanavanDisease |
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| prefixIRI |
OntoAD:C0206307 |
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| prefLabel |
Canavan Disease Maladie de Canavan |
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| subClassOf |