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Canavan Disease
MeSH HeadingCanavan Disease
Tree NumberC10.228.140.163.100.362.375
Tree NumberC10.228.140.695.625.375
Tree NumberC10.228.518.625.375
Tree NumberC10.314.400.375
Tree NumberC10.574.500.300
Tree NumberC16.320.400.150
Tree NumberC16.320.565.189.362.375
Tree NumberC18.452.132.100.362.375
Tree NumberC18.452.648.189.362.375
Annotationdo not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS; DF: CANAVAN DIS
Scope NoteA 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 TermAminoacylase 2 Deficiency
Entry TermAspartoacylase Deficiency
Entry TermCanavan Disease, Familial Form
Entry TermCanavan Disease, Infantile
Entry TermCanavan Disease, Juvenile
Entry TermCanavan Disease, Neonatal
Entry TermCanavan Disease, Sporadic Form
Entry TermCanavan Disease, Type I
Entry TermCanavan Disease, Type II
Entry TermCanavan Disease, Type III
Entry TermCanavan-van Bogaert-Bertrand Disease
Entry TermDeficiency Disease, Aspartoacylase
Entry TermFamilial Form of Canavan Disease
Entry TermInfantile Canavan Disease
Entry TermJuvenile Canavan Disease
Entry TermLeukodystrophy, Spongiform
Entry TermNeonatal Canavan Disease
Entry TermSpongy Degeneration Of Central Nervous System
Entry TermSpongy Degeneration of Infancy
Entry TermSpongy Degeneration of the Central Nervous System
Entry TermSpongy Disease of Central Nervous System
Entry TermSpongy Disease of White Matter
Entry TermSporadic Form of Canavan Disease
Entry TermType I Canavan Disease
Entry TermType II Canavan Disease
Entry TermType III Canavan Disease
Entry TermVon Bogaert-Bertrand Disease
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
Previous Indexing Cerebral Sclerosis, Diffuse (1981-1993)
Previous Indexing Demyelinating Diseases (1967-1993)
History Note94
Date of Entry19930216
Unique IDD017825


MeSH Tree Structures

 
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]
Arrow pointing to current tree nodeCanavan 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]
Arrow pointing to current tree nodeCanavan 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]
   Central Nervous System Diseases [C10.228]
      Leukoencephalopathies [C10.228.518]
         Hereditary Central Nervous System Demyelinating Diseases [C10.228.518.625]
Adrenoleukodystrophy [C10.228.518.625.250]
Alexander Disease [C10.228.518.625.312]
Arrow pointing to current tree nodeCanavan Disease [C10.228.518.625.375]
Leukodystrophy, Globoid Cell [C10.228.518.625.500]
Leukodystrophy, Metachromatic [C10.228.518.625.550]
Pelizaeus-Merzbacher Disease [C10.228.518.625.775]

 
Nervous System Diseases [C10]
   Demyelinating Diseases [C10.314]
      Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]
Adrenoleukodystrophy [C10.314.400.250]
Alexander Disease [C10.314.400.312]
Arrow pointing to current tree nodeCanavan Disease [C10.314.400.375]
Leukodystrophy, Globoid Cell [C10.314.400.500]
Leukodystrophy, Metachromatic [C10.314.400.550]
Pelizaeus-Merzbacher Disease [C10.314.400.775]

 
Nervous System Diseases [C10]
   Neurodegenerative Diseases [C10.574]
      Heredodegenerative Disorders, Nervous System [C10.574.500]
Alexander Disease [C10.574.500.024]
Amyloid Neuropathies, Familial [C10.574.500.050]
Bulbo-Spinal Atrophy, X-Linked [C10.574.500.175]
Arrow pointing to current tree nodeCanavan Disease [C10.574.500.300]
Cockayne Syndrome [C10.574.500.362]
Dystonia Musculorum Deformans [C10.574.500.393]
Gerstmann-Straussler-Scheinker Disease [C10.574.500.425]
Hepatolenticular Degeneration [C10.574.500.487]
Hereditary Central Nervous System Demyelinating Diseases [C10.574.500.494]
Hereditary Sensory and Motor Neuropathy [C10.574.500.495]  +
Hereditary Sensory and Autonomic Neuropathies [C10.574.500.496]  +
Huntington Disease [C10.574.500.497]
Lafora Disease [C10.574.500.529]
Lesch-Nyhan Syndrome [C10.574.500.536]
Menkes Kinky Hair Syndrome [C10.574.500.540]
Myotonia Congenita [C10.574.500.545]
Myotonic Dystrophy [C10.574.500.547]
Neurofibromatoses [C10.574.500.549]  +
Neuronal Ceroid-Lipofuscinoses [C10.574.500.550]
Optic Atrophies, Hereditary [C10.574.500.662]  +
Pantothenate Kinase-Associated Neurodegeneration [C10.574.500.700]
Rett Syndrome [C10.574.500.775]
Spinal Muscular Atrophies of Childhood [C10.574.500.812]
Spinocerebellar Degenerations [C10.574.500.825]  +
Tourette Syndrome [C10.574.500.850]
Tuberous Sclerosis [C10.574.500.865]
Unverricht-Lundborg Syndrome [C10.574.500.875]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Heredodegenerative Disorders, Nervous System [C16.320.400]
Alexander Disease [C16.320.400.024]
Amyloid Neuropathies, Familial [C16.320.400.050]
Arrow pointing to current tree nodeCanavan Disease [C16.320.400.150]
Cockayne Syndrome [C16.320.400.200]
Dystonia Musculorum Deformans [C16.320.400.330]
Gerstmann-Straussler-Scheinker Disease [C16.320.400.350]
Hepatolenticular Degeneration [C16.320.400.361]
Hereditary Central Nervous System Demyelinating Diseases [C16.320.400.367]
Hereditary Sensory and Motor Neuropathy [C16.320.400.375]  +
Hereditary Sensory and Autonomic Neuropathies [C16.320.400.415]  +
Huntington Disease [C16.320.400.430]
Lafora Disease [C16.320.400.480]
Lesch-Nyhan Syndrome [C16.320.400.500]
Menkes Kinky Hair Syndrome [C16.320.400.520]
Mental Retardation, X-Linked [C16.320.400.525]  +
Myotonia Congenita [C16.320.400.540]
Myotonic Dystrophy [C16.320.400.542]
Neuroacanthocytosis [C16.320.400.550]
Neurofibromatoses [C16.320.400.560]  +
Neuronal Ceroid-Lipofuscinoses [C16.320.400.600]
Optic Atrophies, Hereditary [C16.320.400.630]  +
Pantothenate Kinase-Associated Neurodegeneration [C16.320.400.650]
Rett Syndrome [C16.320.400.700]
Spinal Muscular Atrophies of Childhood [C16.320.400.765]
Spinocerebellar Degenerations [C16.320.400.780]  +
Tourette Syndrome [C16.320.400.820]
Tuberous Sclerosis [C16.320.400.880]
Unverricht-Lundborg Syndrome [C16.320.400.940]

 
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]
Arrow pointing to current tree nodeCanavan 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]
Arrow pointing to current tree nodeCanavan 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]
Arrow pointing to current tree nodeCanavan 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]

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