ONKI3 | Medical Subject Headings


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Canavan Disease 30 coordinate concepts ∟ Adrenoleukodystrophy \| ∟ Alexander Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Leukodystrophy, Metachromatic \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Central Nervous System Demyelinating Diseases ∟ Canavan Disease 30 coordinate concepts ∟ Adrenoleukodystrophy \| ∟ Alexander Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Leukodystrophy, Metachromatic \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Demyelinating Diseases ∟ Hereditary Central Nervous System Demyelinating Diseases ∟ Canavan Disease 30 coordinate concepts ∟ Adrenoleukodystrophy \| ∟ Alexander Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Leukodystrophy, Metachromatic \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Canavan Disease 30 coordinate concepts ∟ Adrenoleukodystrophy \| ∟ Alexander Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Leukodystrophy, Metachromatic \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Central Nervous System Demyelinating Diseases ∟ Canavan Disease 30 coordinate concepts ∟ Adrenoleukodystrophy \| ∟ Alexander Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Leukodystrophy, Metachromatic \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Canavan Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Central Nervous System Demyelinating Diseases ∟ Canavan Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Demyelinating Diseases ∟ Hereditary Central Nervous System Demyelinating Diseases ∟ Canavan Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Canavan Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Central Nervous System Demyelinating Diseases ∟ Canavan Disease Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hereditary Central Nervous System Demyelinating Diseases > Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hereditary Central Nervous System Demyelinating Diseases > Demyelinating Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Hereditary Central Nervous System Demyelinating Diseases > Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) X
Annotation:	do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS; DF: CANAVAN DIS X
History note:	Cerebral Sclerosis, Diffuse (1981-1993) \| Demyelinating Diseases (1967-1993)X
historyNote*:	94 X
publicMeSHNote*:	94 X
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) X
activeMeSHYear*:	2007X
dateCreated*:	1993-02-16X
dateEstablished*:	1994-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	agsX
recordOriginator*:	TGCX
Type:	Concept X
Coordinate terms:	Adrenoleukodystrophy \| Alexander Disease \| Leukodystrophy, Globoid Cell \| Leukodystrophy, Metachromatic \| Pelizaeus-Merzbacher Disease \| Amyloid Neuropathies, Familial \| Cockayne Syndrome \| Dystonia Musculorum Deformans \| Gerstmann-Straussler-Scheinker Disease \| Hallervorden-Spatz Syndrome \| Hepatolenticular Degeneration \| Hereditary Central Nervous System Demyelinating Diseases \| Hereditary Motor and Sensory Neuropathies \| Hereditary Sensory and Autonomic Neuropathies \| Huntington Disease \| Lafora Disease \| Lesch-Nyhan Syndrome \| Menkes Kinky Hair Syndrome \| Mental Retardation, X-Linked \| Myotonia Congenita \| Myotonic Dystrophy \| Neurofibromatoses \| Neuronal Ceroid-Lipofuscinoses \| Optic Atrophies, Hereditary \| Rett Syndrome \| Spinal Muscular Atrophies of Childhood \| Spinocerebellar Degenerations \| Tourette Syndrome \| Tuberous Sclerosis \| Unverricht-Lundborg Syndrome X
URI:	X
Labels and equivalent concepts:	Canavanin tauti (fi) Canavan-van Bogaert-Bertrandin tauti (fi, replaced) Canavanin sairaus (fi, replaced) Spongiforminen leukodystrofia (fi, replaced) Canavans sjukdom (sv) Leukodystrofi, spongiform (sv, replaced) Canavans leukodystrofi (sv, replaced) Type III Canavan Disease (en, replaced) Type II Canavan Disease (en, replaced) Type I Canavan Disease (en, replaced) Sporadic Form of Canavan Disease (en, replaced) Spongy Disease of White Matter (en, replaced) Spongy Disease of Central Nervous System (en, replaced) Deficiency Disease, Aspartoacylase (en, replaced) Canavan-van Bogaert-Bertrand Disease (en, replaced) Canavan Disease, Type III (en, replaced) Canavan Disease, Type II (en, replaced) Familial Form of Canavan Disease (en, replaced) Infantile Canavan Disease (en, replaced) Spongy Degeneration of Infancy (en, replaced) Neonatal Canavan Disease (en, replaced) Leukodystrophy, Spongiform (en, replaced) Juvenile Canavan Disease (en, replaced) Canavan Disease, Type I (en, replaced) Morbus Canavan-van Bogaert-Bertrand (la-FI, replaced) Morbus Canavan (la-FI, replaced) X
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