Canavan Disease

Preferred Label : Canavan Disease;

NCIt related terms : Spongy Degeneration of Central Nervous System;

NCIt 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.;

Alternative definition : NICHD: 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.;

Details

Origin ID

C84611;

UMLS CUI

C0206307;

Automatic exact mappings (from CISMeF team)
- aspartoacylase [HGNC gene]
Currated CISMeF NLP mapping
- Canavan disease [PASCAL descriptor]
- Canavan disease [ACR pathology]
- Canavan disease [DO Concept]
- Canavan disease [Disease (Nov.)]
- 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]
- canavan disease [MeSH Descriptor]
- canavan disease [MeSH concept]
- spongy degeneration of central nervous system [SNOMED Notion]
DO Cross reference
- Canavan disease [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Canavan disease [MedDRA Preferred Term]
- Canavan disease [ORDO Disease]
- Canavan disease [OMIM Phenotype]
- Canavan disease [PASCAL descriptor]
- Canavan disease [DO Concept]
- Canavan disease [ACR pathology]
- Canavan disease [Disease (Nov.)]
- Canavan disease [ICD-11 More detail]
- Spongy degeneration of central nervous system (disorder) [SNOMED CT concept]
- aspartoacylase [ORDO Gene]
- canavan disease [MeSH concept]
- canavan disease [MeSH Descriptor]
- spongy degeneration of central nervous system [SNOMED Notion]
Validated automatic mappings to NTBT
- leukodystrophies [MedlinePlus Topic]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ASPA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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