canavan disease

Preferred Label : canavan disease;

MeSH 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 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);

MeSH synonym : spongy degeneration of infancy; canavan-van bogaert-bertrand disease; leukodystrophy, spongiform; canavan van bogaert bertrand disease; spongy disease of white matter; spongy disease of central nervous system; spongiform leukodystrophy; disease, canavan; disease, canavan-van Bogaert-Bertrand; von Bogaert-Bertrand disease; disease, von Bogaert-Bertrand; von bogaert bertrand disease; spongy degeneration of the central nervous system; spongy degeneration of central nervous system; spongy degeneration of the brain; spongy degeneration of white matter in infancy; van Bogaert-Bertrand syndrome; syndrome, van Bogaert-Bertrand; van bogaert bertrand syndrome;

CISMeF synonym : Canavan; canavan's disease; aminoacylase 2 deficiencies; aspartoacylase deficiencies; aspartoacylase deficiency disease; aspartoacylase deficiency diseases; bogaert-bertrand disease, canavan-van; Bogaert-Bertrand disease, von; deficiencies, aminoacylase 2; deficiencies, aspartoacylase; deficiency diseases, aspartoacylase; deficiency, aminoacylase 2; deficiency, aspartoacylase; disease, aspartoacylase deficiency; diseases, aspartoacylase deficiency; infancy spongy degeneration; infancy spongy degenerations; leukodystrophies, spongiform; spongiform leukodystrophies;

MeSH hyponym : canavan disease, sporadic form; canavan disease, neonatal; canavan disease, juvenile; canavan disease, infantile; canavan disease, familial form; Familial Form of Canavan Disease; Infantile Canavan Disease; Type II Canavan Disease; Canavan Disease, Type II; Neonatal Canavan Disease; Type I Canavan Disease; Canavan Disease, Type I; Sporadic Form of Canavan Disease; Juvenile Canavan Disease; Type III Canavan Disease; Canavan Disease, Type III;

Related MeSH term : aminoacylase 2 deficiency; Deficiency Disease, Aspartoacylase; ASPA Deficiency; Aspartoacylase Deficiency; ACY2 Deficiency; ASP Deficiency;

MeSH annotation : do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS; DF: CANAVAN DIS; do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS;

Wikipedia link : https://en.wikipedia.org/wiki/Canavan disease;

Details

Origin ID

D017825;

UMLS CUI

C0206307;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Mild Canavan disease [ORDO Disease]
- Severe Canavan disease [ORDO Disease]
- aspartoacylase [HGNC gene]
Currated CISMeF NLP mapping
- Canavan Disease [NCIt concept]
- Canavan disease [ACR pathology]
- Canavan disease [PASCAL descriptor]
- Canavan disease [Disease (Nov.)]
- Canavan disease [DO Concept]
- Canavan disease [ICD-11 More detail]
- Canavan disease [MedDRA Preferred Term]
- Canavan disease [OMIM Phenotype]
- Canavan disease [ORDO Disease]
- Spongy degeneration of central nervous system (disorder) [SNOMED CT concept]
- aspartoacylase [ORDO Gene]
- spongy degeneration of central nervous system [SNOMED Notion]
DO Cross reference
- Canavan disease [DO Concept]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Demyelination [HPO term]
- Loss of very early milestones [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal recessive syndromic optic atrophy [ORDO Disease]
- Cerebral organic aciduria [ORDO Disease]
- Disorder of amino acid and other organic acid metabolism [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
MedlinePlus topic(s)
- leukodystrophies [MedlinePlus Topic]
ORDO relation(s)
- Canavan disease [ORDO Disease]
Record concept(s)
- aminoacylase 2 deficiency [MeSH concept]
- canavan disease [MeSH concept]
- canavan disease, familial form [MeSH concept]
- canavan disease, infantile [MeSH concept]
- canavan disease, juvenile [MeSH concept]
- canavan disease, neonatal [MeSH concept]
- canavan disease, sporadic form [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Canavan Disease [NCIt concept]
- Canavan disease [MedDRA Preferred Term]
- Canavan disease [OMIM Phenotype]
- Canavan disease [ORDO Disease]
- Canavan disease [DO Concept]
- Canavan disease [ACR pathology]
- Canavan disease [PASCAL descriptor]
- Canavan disease [Disease (Nov.)]
- Canavan disease [ICD-11 More detail]
- Spongy degeneration of central nervous system (disorder) [SNOMED CT concept]
- aspartoacylase [ORDO Gene]
- spongy degeneration of central nervous system [SNOMED Notion]
Validated automatic mappings to BTNT
- Mild Canavan disease [ORDO Disease]
- Severe Canavan disease [ORDO Disease]
Validated automatic mappings to NTBT
- leukodystrophies [MedlinePlus Topic]

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