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Details
Link-It Detail - Disease - Canavan Disease
Debug Stats
  • ### Total Build Time: 24 ms 34.286 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 328 bytes
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  • Reload Stats
Disease (1)
Canavan Disease C0206307
Definition (1)
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)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Demyelinating Diseases C00113034img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (31)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 24
diso_​to_​phen : 2


Relationships:
none : 6
is_​associated_​anatomic_​site_​of : 1
isa : 1
manifestation_​of : 21
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_CHEM18img Amidohydrolases C0002488
DISO_to_CHEM17img Amidohydrolases C0002488
DISO_to_ANAT14img Brain C0006104
DISO_to_CHEM14img Aspartic Acid C0004015
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOmanifestation_ofimg Blind Vision C0456909
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOpermuted_term_ofimg Canavan Disease C0206307
DISO_to_DISOmanifestation_ofimg Caused by mutations in the aspartoacylase gene (ASPA, 271900.0001) C1848994
DISO_to_DISOisaimg DEMENTIAS TRANSM C0162534
DISO_to_DISOmanifestation_ofimg Deafness C0011053
DISO_to_DISOmanifestation_ofimg Death within first decade C1848998
DISO_to_DISOmanifestation_ofimg Decerebrate or decorticate posturing late C1848988
DISO_to_DISOmanifestation_ofimg Delayed anterior fontanelle closure C1855653
DISO_to_DISOmanifestation_ofimg Demyelination with white matter disease in internal capsule, external capsule, genu of corpus callosum, subcortical white matter, and posterior fossa C1848989
DISO_to_DISOmanifestation_ofimg Generalized seizures C0234533
DISO_to_DISOmanifestation_ofimg Increased N-acetyl-L-aspartic acid (NAA) in urine, CSF, and blood C1848992
DISO_to_DISOmanifestation_ofimg Increased head circumference C1848990
DISO_to_DISOmanifestation_ofimg Initial hypotonia, followed by spasticity C1848986
DISO_to_DISOmapped_toimg Leucodystrophy C0023520
DISO_to_DISOmanifestation_ofimg Loss of very early milestones C1848987
DISO_to_DISOmanifestation_ofimg Normal first month C1848995
DISO_to_DISOmanifestation_ofimg Nystagmus C0028738
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanASPA443aspartoacylase
img GENERIF, Score=1000, Pubmed Id: 16437572, UMLKSK CUI: C0206307
img GENERIF, Score=1000, Pubmed Id: 17391648, UMLKSK CUI: C0206307
img GENERIF, Score=1000, Pubmed Id: 12638939, UMLKSK CUI: C0206307
img GAD, Score=1000, Pubmed Id: 14699612, UMLKSK CUI: C0206307
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0206307Canavan Disease0self