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Alexander Disease (CUI C0270726) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0270726

NCI Thesaurus Code: C84545  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.

GARD Definition: Alexander disease is a type of leukodystrophy. It is characterized by the destruction of white matter in the brain and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, mental retardation, and delayed physical development. Less frequently, onset occurs later in childhood (the juvenile form) or adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, and poor coordination. Alexander disease is caused by mutations in the GFAP gene. While this condition is inherited in an autosomal dominant fashion, most cases result from new mutations in the gene. - this information is from GARD/ORDR/NCATS.

MSH Definition: Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.

Synonyms & Abbreviations: (see Synonym Details)
Alexander Disease [Disease/Finding]
Alexander disease
Alexander's disease (disorder)
Alexander's disease
Alexanders Disease
Alexanders leukodystrophy
ALXDRD
AxD
Demyelinogenic Leukodystrophy
Dysmyelinogenic Leukodystrophy
Fibrinoid Degeneration of Astrocytes
Fibrinoid leukodystrophy
Leukodystrophy with Rosenthal Fibers
Megalencephaly in infancy accompanied by progressive spasticity and dementia

External Source Codes: 
NCI Thesaurus Code C84545 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X005U 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 900000000000074008 SNOMEDCT_US
DID 1849-5479 CSP
DISEASE_IDENTIFIER_ID 17182 GARD
DISEASE_IDENTIFIER_ID 17183 GARD
DISEASE_IDENTIFIER_ID 33360 GARD
DX 20030101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 1 MSH
FX D005904 MSH
GENELOCUS ,1,7,q,2,1, OMIM
GENESYMBOL ALXDRD OMIM
GENESYMBOL GFAP OMIM
HAS_GARD_PAGE true GARD
HM D038261 MSH
HN 2003 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 2010-01-08T00:00:00 GARD
MDA 20020702 MSH
MDA 20100625 MSH
MESH_DEFINITION Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance. NDFRT
MESH_DUI D038261 NDFRT
MESH_NAME Alexander Disease NDFRT
MESH_UI M0415670 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.140.163.100.362.312 MSH
MN C10.228.140.695.625.312 MSH
MN C10.314.400.312 MSH
MN C10.574.500.024 MSH
MN C16.320.400.024 MSH
MN C16.320.565.189.362.312 MSH
MN C18.452.132.100.362.312 MSH
MN C18.452.648.189.362.312 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000010949 NDFRT
PM 2003 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5774/alexander-disease/resources/1 GARD
RN 0 MSH
RXAUI 3107572 RXNORM
RXAUI 3107573 RXNORM
RXAUI 3107574 RXNORM
RXAUI 5930707 RXNORM
RXAUI 5930771 RXNORM
RXAUI 5930952 RXNORM
RXAUI 5931358 RXNORM
RXCUI 1026756 RXNORM
SC 3 MSH
SNOMED_CID 81854007 NDFRT
SOS Megalencephaly in infancy accompanied by progressive spasticity and dementia MSH
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 G37.8 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~G37.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X005U 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 T483481 MSH
TERMUI T483482 MSH
TERMUI T727005 MSH
TERMUI T840850 MSH
TERMUI T840851 MSH
TERMUI T840852 MSH
TERMUI T840853 MSH
TH GHR (2014) MSH
TH NLM (2003) 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=C0270726

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