MeSH Browser

MeSH Heading: Canavan Disease
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
Unique ID: D017825
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D017825
Annotation: do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS
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)
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; Deficiency Disease, Aspartoacylase; Familial Form of Canavan Disease; Infantile Canavan Disease; Juvenile Canavan Disease; Leukodystrophy, Spongiform; Neonatal Canavan Disease; 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
Previous Indexing: Cerebral Sclerosis, Diffuse (1981-1993); Demyelinating Diseases (1967-1993)
Public MeSH Note: 94
History Note: 94
Date Established: 1994/01/01
Date of Entry: 1993/02/16
Revision Date: 2019/05/24

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Adrenoleukodystrophy [C10.228.140.163.100.362.250]
        
        Alexander Disease [C10.228.140.163.100.362.312]
        
        Canavan Disease [C10.228.140.163.100.362.375]
        
        Leukodystrophy, Globoid Cell [C10.228.140.163.100.362.500]
        
        Leukodystrophy, Metachromatic [C10.228.140.163.100.362.550]
        
        Pelizaeus-Merzbacher Disease [C10.228.140.163.100.362.775]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Leukoencephalopathies [C10.228.140.695]
      - Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
        
        Adrenoleukodystrophy [C10.228.140.695.625.250]
        
        Alexander Disease [C10.228.140.695.625.312]
        
        Canavan Disease [C10.228.140.695.625.375]
        
        Leukodystrophy, Globoid Cell [C10.228.140.695.625.500]
        
        Leukodystrophy, Metachromatic [C10.228.140.695.625.550]
        
        Pelizaeus-Merzbacher Disease [C10.228.140.695.625.775]

Nervous System Diseases [C10]
- Demyelinating Diseases [C10.314]
  - Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362]
        
        Adrenoleukodystrophy [C16.320.565.189.362.250]
        
        Alexander Disease [C16.320.565.189.362.312]
        
        Canavan Disease [C16.320.565.189.362.375]
        
        Leukodystrophy, Globoid Cell [C16.320.565.189.362.500]
        
        Leukodystrophy, Metachromatic [C16.320.565.189.362.550]
        
        Pelizaeus-Merzbacher Disease [C16.320.565.189.362.775]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362]
        
        Adrenoleukodystrophy [C18.452.132.100.362.250]
        
        Alexander Disease [C18.452.132.100.362.312]
        
        Canavan Disease [C18.452.132.100.362.375]
        
        Leukodystrophy, Globoid Cell [C18.452.132.100.362.500]
        
        Leukodystrophy, Metachromatic [C18.452.132.100.362.550]
        
        Pelizaeus-Merzbacher Disease [C18.452.132.100.362.775]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362]
        
        Adrenoleukodystrophy [C18.452.648.189.362.250]
        
        Alexander Disease [C18.452.648.189.362.312]
        
        Canavan Disease [C18.452.648.189.362.375]
        
        Leukodystrophy, Globoid Cell [C18.452.648.189.362.500]
        
        Leukodystrophy, Metachromatic [C18.452.648.189.362.550]
        
        Pelizaeus-Merzbacher Disease [C18.452.648.189.362.775]

Canavan Disease Preferred

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)
Terms: Canavan Disease Preferred Term
Term UI T053281
Date01/01/1999
LexicalTag EPO
ThesaurusID; Canavan-van Bogaert-Bertrand Disease
Term UI T053278
Date10/08/1992
LexicalTag EPO
ThesaurusID; Leukodystrophy, Spongiform
Term UI T053279
Date10/08/1992
LexicalTag NON
ThesaurusID; Spongy Disease of White Matter
Term UI T053280
Date10/08/1992
LexicalTag NON
ThesaurusID NLM (1994); Van Bogaert-Bertrand Syndrome
Term UI T841061
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Von Bogaert-Bertrand Disease
Term UI T761393
Date11/23/2009
LexicalTag EPO
ThesaurusID; Spongy Degeneration of the Central Nervous System
Term UI T761509
Date11/25/2009
LexicalTag NON
ThesaurusID NLM (2011); Spongy Degeneration Of Central Nervous System
Term UI T812099
Date11/15/2011
LexicalTag NON
ThesaurusID; Spongy Degeneration of White Matter In Infancy
Term UI T841059
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Spongy Degeneration of the Brain
Term UI T841060
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Spongy Disease of Central Nervous System
Term UI T053277
Date10/08/1992
LexicalTag NON
ThesaurusID NLM (2011); Spongy Degeneration of Infancy
Term UI T371372
Date11/03/1999
LexicalTag NON
ThesaurusID

Canavan Disease, Familial Form Narrower

Canavan Disease, Infantile Narrower

Concept UI: M0336606
Terms: Canavan Disease, Infantile Preferred Term
Term UI T371375
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Infantile Canavan Disease
Term UI T371377
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type II Canavan Disease
Term UI T371390
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Canavan Disease, Type II
Term UI T371376
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Canavan Disease, Neonatal Narrower

Concept UI: M0336608
Terms: Canavan Disease, Neonatal Preferred Term
Term UI T371381
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Neonatal Canavan Disease
Term UI T371383
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type I Canavan Disease
Term UI T371392
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Canavan Disease, Type I
Term UI T371382
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Canavan Disease, Sporadic Form Narrower

Aminoacylase 2 Deficiency Related

Concept UI: M0584785
Terms: Aminoacylase 2 Deficiency Preferred Term
Term UI T761391
Date11/23/2009
LexicalTag NON
ThesaurusID; ASPA Deficiency
Term UI T844192
Date05/15/2013
LexicalTag NON
ThesaurusID GHR (2014); ACY2 Deficiency
Term UI T844190
Date05/15/2013
LexicalTag NON
ThesaurusID GHR (2014); ASP Deficiency
Term UI T844191
Date05/15/2013
LexicalTag NON
ThesaurusID GHR (2014); Deficiency Disease, Aspartoacylase
Term UI T371371
Date11/03/1999
LexicalTag NON
ThesaurusID; Aspartoacylase Deficiency
Term UI T761392
Date11/23/2009
LexicalTag NON
ThesaurusID

Canavan Disease, Juvenile Narrower

Concept UI: M0336607
Terms: Canavan Disease, Juvenile Preferred Term
Term UI T371378
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Juvenile Canavan Disease
Term UI T371380
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type III Canavan Disease
Term UI T371391
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Canavan Disease, Type III
Term UI T371379
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Canavan Disease MeSH Descriptor Data 2024