| Descriptor English: | Canavan Disease | ||||
| Descriptor Spanish: |
Enfermedad de Canavan
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| Descriptor Portuguese: | Doença de Canavan | ||||
| Descriptor French: | Maladie de Canavan | ||||
| Entry term(s): |
ACY2 Deficiency ASP Deficiency ASPA Deficiency Aminoacylase 2 Deficiency Aspartoacylase 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 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 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 |
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| Tree number(s): |
C10.228.140.163.100.362.375 C10.228.140.695.625.375 C10.314.400.375 C10.574.500.300 C16.320.400.150 C16.320.565.189.362.375 C18.452.132.100.362.375 C18.452.648.189.362.375 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D017825 | ||||
| Scope note: | 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) |
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| Annotation: | do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Cerebral Sclerosis, Diffuse (1981-1993) Demyelinating Diseases (1967-1993) |
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| Public MeSH Note: | 94 |
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| History Note: | 94 |
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| DeCS ID: | 31602 | ||||
| Unique ID: | D017825 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 1994/01/01 | ||||
| Date of Entry: | 1993/02/16 | ||||
| Revision Date: | 2013/07/08 |
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Canavan Disease
- Preferred
Canavan Disease, Familial Form
- Narrower
Canavan Disease, Infantile
- Narrower
Canavan Disease, Neonatal
- Narrower
Canavan Disease, Sporadic Form
- Narrower
Aminoacylase 2 Deficiency
- Related but not broader or narrower
Canavan Disease, Juvenile
- Narrower
| Concept UI |
M0026932 |
| Scope note | 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) |
| Preferred term | Canavan Disease |
| Entry term(s) |
Canavan van Bogaert Bertrand Disease Canavan-van Bogaert-Bertrand Disease Disease, Canavan Disease, Canavan-van Bogaert-Bertrand Disease, Von Bogaert-Bertrand Leukodystrophy, Spongiform 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 Syndrome, Van Bogaert-Bertrand Van Bogaert Bertrand Syndrome Van Bogaert-Bertrand Syndrome Von Bogaert Bertrand Disease Von Bogaert-Bertrand Disease |
| Concept UI |
M0336605 |
| Preferred term | Canavan Disease, Familial Form |
| Entry term(s) |
Familial Form of Canavan Disease |
| Concept UI |
M0336606 |
| Preferred term | Canavan Disease, Infantile |
| Entry term(s) |
Canavan Disease, Type II Infantile Canavan Disease Type II Canavan Disease |
| Concept UI |
M0336608 |
| Preferred term | Canavan Disease, Neonatal |
| Entry term(s) |
Canavan Disease, Type I Neonatal Canavan Disease Type I Canavan Disease |
| Concept UI |
M0336609 |
| Preferred term | Canavan Disease, Sporadic Form |
| Entry term(s) |
Sporadic Form of Canavan Disease |
| Concept UI |
M0584785 |
| Preferred term | Aminoacylase 2 Deficiency |
| Entry term(s) |
ACY2 Deficiency ASP Deficiency ASPA Deficiency Aspartoacylase Deficiency Deficiency Disease, Aspartoacylase |
| Concept UI |
M0336607 |
| Preferred term | Canavan Disease, Juvenile |
| Entry term(s) |
Canavan Disease, Type III Juvenile Canavan Disease Type III Canavan Disease |
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