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Canavan Disease (CUI C0206307) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0206307

NCI Thesaurus Code: C84611  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

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.

GARD Definition: Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the fatty covering that insulates nerve fibers.  Canavan disease is caused by mutations in the ASPA gene and is inherited in an autosomal recessive pattern. While it occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage, and among Saudi Arabians.
 
- this information is from GARD/ORDR/NCATS.

NICHD 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.

MSH 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)

Synonyms & Abbreviations: (see Synonym Details)
ACY2 deficiency
AMINOACYLASE 2 DEFICIENCY
ASP deficiency
ASPA deficiency
Aspartoacylase deficiency
BRAIN, FAMILIAL SPONGY DEGENERATION
Canavan Disease [Disease/Finding]
CANAVAN DISEASE
Canavan van Bogaert Bertrand Disease
Canavan's disease
Canavan-van Bogaert-Bertrand disease
Canavan-van-Bogaert-Bertrand disease
Disease, Canavan-van Bogaert-Bertrand
Disease, Canavan
Disease, Von Bogaert-Bertrand
FAMILIAL IDIOCY WITH SPONGY DEGNERATION OF NEURAXIS
Leukodystrophy, Spongiform
Spongiform leucodystrophy
Spongiform Leukodystrophy
Spongy degeneration of central nervous system (disorder)
Spongy Degeneration Of Central Nervous System
Spongy Degeneration of Infancy
Spongy degeneration of the brain
Spongy degeneration of the central nervous system
Spongy Degeneration of White Matter In Infancy
Spongy degeneration of white matter
Spongy Disease of Central Nervous System
Spongy Disease of White Matter
Syndrome, Van Bogaert-Bertrand
Van Bogaert Bertrand Syndrome
VAN BOGAERT-BERTRAND SYNDROME
Von Bogaert Bertrand Disease
Von Bogaert-Bertrand disease

External Source Codes: 
NCI Thesaurus Code C84611 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS; DF: CANAVAN DIS MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID X005T SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 17655 GARD
DISEASE_IDENTIFIER_ID 17656 GARD
DISEASE_IDENTIFIER_ID 17657 GARD
DISEASE_IDENTIFIER_ID 17658 GARD
DISEASE_IDENTIFIER_ID 17659 GARD
DISEASE_IDENTIFIER_ID 17660 GARD
DISEASE_IDENTIFIER_ID 17661 GARD
DISEASE_IDENTIFIER_ID 30666 GARD
DX 19940101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,7,p,t,e,r,-,p,1,3, OMIM
GENESYMBOL ASPA OMIM
HAS_GARD_PAGE true GARD
HN 94 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2008-05-10T00:00:00 GARD
MDA 19930216 MSH
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) NDFRT
MESH_DUI D017825 NDFRT
MESH_NAME Canavan Disease NDFRT
MESH_UI M0026932 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.140.163.100.362.375 MSH
MN C10.228.140.695.625.375 MSH
MN C10.314.400.375 MSH
MN C10.574.500.300 MSH
MN C16.320.400.150 MSH
MN C16.320.565.189.362.375 MSH
MN C18.452.132.100.362.375 MSH
MN C18.452.648.189.362.375 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Canavan Disease NCI
NUI N0000003642 NDFRT
PM 94 MSH
PRIMARY_PATH 10067608$10024579$10027424$10010331$Canavan disease$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5984/canavan-disease/resources/1 GARD
RXAUI 3129321 RXNORM
RXAUI 3129322 RXNORM
RXAUI 3129332 RXNORM
RXAUI 3189229 RXNORM
RXAUI 3239963 RXNORM
RXAUI 3239964 RXNORM
RXAUI 3239965 RXNORM
RXAUI 3606341 RXNORM
RXAUI 3606413 RXNORM
RXAUI 5039972 RXNORM
RXAUI 5932304 RXNORM
RXAUI 5932305 RXNORM
RXAUI 5932429 RXNORM
RXCUI 1024734 RXNORM
SMQ_TERM_ADDVERSION 10.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 80544005 NDFRT
SNOMEDID DA-20168 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E75.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.29 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.29 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X005T SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DA-20168 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T053277 MSH
TERMUI T053278 MSH
TERMUI T053279 MSH
TERMUI T053280 MSH
TERMUI T053281 MSH
TERMUI T371372 MSH
TERMUI T761393 MSH
TERMUI T761509 MSH
TERMUI T812099 MSH
TERMUI T841059 MSH
TERMUI T841060 MSH
TERMUI T841061 MSH
TH GHR (2014) MSH
TH NLM (1994) MSH
TH NLM (2000) MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0206307

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