About: Canavan Disease     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Canavan Disease
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Canavan Disease
UMLS_CUI
  • C0206307
Contributing_Source
  • NICHD
ALT_DEFINITION
  • Spongy degeneration of central nervous system , spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy.NICHD
FULL_SYN
  • Canavan DiseasePTNCI
  • Spongy Degeneration of Central Nervous SystemSYNICHD
  • Canavan DiseasePTNICHD
DEFINITION
  • A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head.NCI
code
  • C84611
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