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Globoid cell leukodystrophy (CUI C0023521) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0023521

NCI Thesaurus Code: C61254  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.

LNC Definition: Krabbe disease is an inherited disorder that affects the nervous system. This condition is characterized by severe muscle weakness, slow mental and physical development, vision loss, and seizures. Mutations in the GALC gene cause Krabbe disease; it has an autosomal recessive pattern of inheritance.

GARD Definition: Krabbe leukodystrophy is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in defective myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. Krabbe disease usually begins before the age of 1 year (early-onset form). Initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and intellectual disability. Less commonly, onset can occur later in childhood, adolescence, or adulthood (late-onset form). Krabbe disease is caused by mutations in the GALC gene and is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS.

CSP Definition: inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation.

MSH Definition: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

Synonyms & Abbreviations: (see Synonym Details)
beta galactocerebrosidase deficiency
beta-Galactosidase Deficiencies, Galactosylceramide
beta-Galactosidase Deficiency, Galactosylceramide
BRAIN, SCLEROSIS, GLOBOID CELL
Cell Leukodystrophies, Globoid
Cell Leukodystrophy, Globoid
Cell Leukoencephalopathies, Globoid
Cell Leukoencephalopathy, Globoid
Deficiencies, Galactocerebrosidase
Deficiencies, Galactosylceramide beta-Galactosidase
Deficiencies, GALC
Deficiency Disease, Galactosylceramidase
Deficiency Disease, Galactosylceramide-beta-Galactosidase
Deficiency Diseases, Galactosylceramidase
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Deficiency, Galactocerebrosidase
Deficiency, Galactosylceramide beta-Galactosidase
Deficiency, GALC
Diffuse Globoid Body Sclerosis
Diffuse globoid cell cerebral sclerosis
Disease, Galactosylceramidase Deficiency
Disease, Galactosylceramide-beta-Galactosidase Deficiency
Diseases, Galactosylceramidase Deficiency
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Galactocerebrosidase Deficiencies
Galactocerebrosidase deficiency
Galactocerebroside beta-galactosidase deficiency
GALACTOSYL CERAMIDE LIPIDOSIS
GALACTOSYLCERAMIDASE DEFIC DIS
Galactosylceramidase Deficiency Diseases
Galactosylceramidase Deficiency Disease
Galactosylceramidase deficiency
Galactosylceramide beta Galactosidase Deficiency Disease
Galactosylceramide beta Galactosidase Deficiency
Galactosylceramide beta-Galactosidase Deficiencies
Galactosylceramide beta-galactosidase deficiency (disorder)
Galactosylceramide beta-galactosidase deficiency
galactosylceramide lipidosis
Galactosylceramide-beta-Galactosidase Deficiency Diseases
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
GALC Deficiencies
GALC deficiency
GALC
GCL - Globoid cell leucodystrophy
GCL
GLD
Globoid Body Sclerosis, Diffuse
Globoid cell leucodystrophy
Globoid Cell Leukodystrophies
globoid cell leukodystrophy
Globoid Cell Leukoencephalopathies
Globoid cell leukoencephalopathy
Globoid Leukodystrophies
Globoid Leukodystrophy
KRABBE DISEASE
KRABBE DIS
Krabbe leucodystrophy
Krabbe leukodystrophy
Krabbe's disease
Krabbe's leukodystrophy
Krabbes Disease
KRABBES DIS
Krabbes Leukodystrophy
Leukodystrophies, Globoid Cell
Leukodystrophies, Globoid
Leukodystrophy, Globoid Cell [Disease/Finding]
LEUKODYSTROPHY, GLOBOID CELL
Leukodystrophy, Globoid
Leukodystrophy, Krabbe's
Leukodystrophy, Krabbe
Leukoencephalopathies, Globoid Cell
Leukoencephalopathy, Globoid Cell
Psychosine Lipidosis

External Source Codes: 
NCI Thesaurus Code C61254 (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 900000000000020002 SNOMEDCT_US
Contributing_Source CTRP NCI
Contributing_Source NICHD NCI
CTV3ID F1000 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 1849-5536 CSP
DISEASE_IDENTIFIER_ID 33162 GARD
DISEASE_IDENTIFIER_ID 4316 GARD
DISEASE_IDENTIFIER_ID 4317 GARD
DISEASE_IDENTIFIER_ID 4318 GARD
DISEASE_IDENTIFIER_ID 4319 GARD
DISEASE_IDENTIFIER_ID 4320 GARD
DISEASE_IDENTIFIER_ID 4321 GARD
DISEASE_IDENTIFIER_ID 4322 GARD
DISEASE_IDENTIFIER_ID 4323 GARD
DX 19740101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
FX D005698 MSH
GENELOCUS ,1,4,q,3,1, OMIM
GENESYMBOL GALC OMIM
GLOBAL_ID 192782005 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HAS_GARD_PAGE true GARD
HN 1974(1963) MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. NDFRT
MESH_DUI D007965 NDFRT
MESH_NAME Leukodystrophy, Globoid Cell NDFRT
MESH_UI M0012415 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.140.163.100.362.500 MSH
MN C10.228.140.163.100.435.825.590 MSH
MN C10.228.140.695.625.500 MSH
MN C10.314.400.500 MSH
MN C16.320.565.189.362.500 MSH
MN C16.320.565.189.435.825.590 MSH
MN C16.320.565.398.641.803.585 MSH
MN C16.320.565.595.554.825.590 MSH
MN C18.452.132.100.362.500 MSH
MN C18.452.132.100.435.825.590 MSH
MN C18.452.584.687.803.585 MSH
MN C18.452.648.189.362.500 MSH
MN C18.452.648.189.435.825.590 MSH
MN C18.452.648.398.641.803.585 MSH
MN C18.452.648.595.554.825.590 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Krabbe Disease NCI
NUI N0000001833 NDFRT
ORDER_NO 04640 ICD10CM
PM 1974; see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for LEUKODYSTROPHIES see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for KRABBE DISEASE see KRABBE'S DISEASE 1974-1997 MSH
PRIMARY_PATH 10023492$10024579$10027424$10010331$Krabbe's disease$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 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
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6844/krabbe-leukodystrophy/resources/1 GARD
RXAUI 3146818 RXNORM
RXAUI 3164564 RXNORM
RXAUI 3164569 RXNORM
RXAUI 3165649 RXNORM
RXAUI 3165651 RXNORM
RXAUI 3165653 RXNORM
RXAUI 3185011 RXNORM
RXAUI 3185012 RXNORM
RXAUI 3185013 RXNORM
RXAUI 3185014 RXNORM
RXAUI 3189214 RXNORM
RXAUI 3189215 RXNORM
RXAUI 3287381 RXNORM
RXAUI 5039380 RXNORM
RXAUI 5039392 RXNORM
RXAUI 5039394 RXNORM
RXAUI 5931014 RXNORM
RXAUI 5931015 RXNORM
RXAUI 5931016 RXNORM
RXAUI 5932089 RXNORM
RXCUI 1021902 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 192782005 NDFRT
SNOMEDID D6-74231 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 E75.23 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~E75.23 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F1000 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-74231 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 T023743 MSH
TERMUI T023744 MSH
TERMUI T023745 MSH
TERMUI T368930 MSH
TERMUI T368931 MSH
TERMUI T368940 MSH
TERMUI T368941 MSH
TERMUI T368942 MSH
TERMUI T368943 MSH
TERMUI T368944 MSH
TERMUI T647487 MSH
TERMUI T749760 MSH
TERMUI T811705 MSH
TERMUI T817359 MSH
TERMUI T817360 MSH
TERMUI T841838 MSH
TERMUI T841839 MSH
TERMUI T841840 MSH
TERMUI T841841 MSH
TH GHR (2014) MSH
TH NLM (1974) MSH
TH NLM (1998) MSH
TH NLM (2000) MSH
TH NLM (2007) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) 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=C0023521

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