Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. [ Orphanet:487 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:189979005 (MONDO:equivalentTo)
  • DOID:10587 (MONDO:equivalentTo)
  • NCIT:C61254 (MONDO:equivalentTo)
  • MedDRA:10023492 (Orphanet:487)
  • ICD10:E75.23 (MONDO:equivalentTo)
  • ICD10:E75.2 (Orphanet:487)
  • OMIM:245200 (Orphanet:487)
  • UMLS:C0023521 (Orphanet:487)
  • GARD:0006844 (Orphanet-shared)
  • Orphanet:487 (OMIM:245200)
  • MESH:D007965 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
GLD [ GARD:0006844 ]

closeMatch

http://identifiers.org/snomedct/192782005

http://identifiers.org/snomedct/5710006

comment

Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137]

definition

Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.

exactMatch

http://www.orpha.net/ORDO/Orphanet_487

http://identifiers.org/mesh/D007965

http://identifiers.org/omim/245200

http://identifiers.org/meddra/10023492

http://purl.obolibrary.org/obo/DOID_10587

http://linkedlifedata.com/resource/umls/id/C0023521

http://purl.obolibrary.org/obo/NCIT_C61254

http://identifiers.org/snomedct/189979005

has exact synonym

Krabbe's disease

galactosylceramidase deficiency

globoid cell leukoencephalopathy

galactocerebrosidase deficiency

Krabbe disease

diffuse globoid body sclerosis

Krabbe's leukodystrophy

globoid cell leukodystrophy

GALC deficiency

beta galactocerebrosidase deficiency

galactosylceramide lipidosis

has related synonym

Krabbe leukodystrophy

galactosylceramide Beta-galactosidase deficiency

GLD

id

MONDO:0009499