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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Krabbe disease
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Accession:DOID:10587 term browser browse the term
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:exact_synonym: Classic Globoid Cell Leukodystrophy;   Diffuse Globoid Body Sclerosis;   Early Onset Globoid Cell Leukodystrophy;   GALC Deficiencies;   GALC Deficiency;   GCL;   GLD;   Galactocerebrosidase Deficiencies;   Galactocerebrosidase Deficiency;   Galactosylceramidase Deficiency Disease;   Galactosylceramidase Deficiency Diseases;   Galactosylceramide Lipidosis;   Galactosylceramide beta Galactosidase Deficiency;   Galactosylceramide beta Galactosidase Deficiency Disease;   Galactosylceramide beta-Galactosidase Deficiencies;   Galactosylceramide-beta-Galactosidase Deficiency Diseases;   Galactosylcerebrosidase Deficiency;   Galactosylsphingosine Lipidosis;   Globoid Cell Leukodystrophies;   Globoid Cell Leukodystrophy;   Globoid Cell Leukoencephalopathies;   Globoid Cell Leukoencephalopathy;   Globoid Leukodystrophies;   Globoid Leukodystrophy;   Infantile Globoid Cell Leukodystrophy;   Krabbe Leukodystrophy;   Krabbe's Disease;   Krabbe's Leukodystrophy;   Krabbes Disease;   Krabbes Leukodystrophy;   Late Onset Globoid Cell Leukodystrophy;   Psychosine Lipidosis;   beta galactocerebrosidase deficiency
 primary_id: MESH:D007965;   RDO:0004496
 alt_id: OMIA:000578;   OMIM:245200
 xref: GARD:6844;   ICD10CM:E75.23;   NCI:C133088;   NCI:C61254
For additional species annotation, visit the Alliance of Genome Resources.


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Krabbe disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by OMIM:245200
OMIM
ClinVar
PMID:3362311, PMID:7437911, PMID:7581365, PMID:8281145, PMID:8297359, PMID:8595408, PMID:8634707, PMID:8687180, PMID:8786069, PMID:8940268, PMID:9005874, PMID:9266397, PMID:9272171, PMID:9338580, PMID:9371928, PMID:10234611, PMID:10448809, PMID:10464649, PMID:10477434, PMID:10833326, PMID:11003282, PMID:11151421, PMID:12699861, PMID:16607461, PMID:16759875, PMID:17579360, PMID:17824908, PMID:19302934, PMID:20135576, PMID:20410102, PMID:20886637, PMID:21070211, PMID:21824559, PMID:21876145, PMID:22073273, PMID:22115770, PMID:22520351, PMID:22704718, PMID:23128445, PMID:23138179, PMID:23197103, PMID:23319190, PMID:23430802, PMID:23462331, PMID:23509109, PMID:23620143, PMID:24033266, PMID:24078576, PMID:24252386, PMID:24297913, PMID:24913062, PMID:25260228, PMID:25265039, PMID:25741868, PMID:25956830, PMID:26108647, PMID:26396125, PMID:26539891, PMID:26567009, PMID:26795590, PMID:26865610, PMID:26915362, PMID:27126738, PMID:27238910, PMID:27442402, PMID:27535533, PMID:27638593, PMID:27638604, PMID:27679535, PMID:27779215, PMID:27780934, PMID:27785412, PMID:28492532, PMID:28547031, PMID:28598007, PMID:28600779, PMID:28976722, PMID:29120458, PMID:29286531, PMID:29481565, PMID:29615819, PMID:29951496, PMID:29966168, PMID:30089515, PMID:30202406, PMID:30209698, PMID:30311386, PMID:30609409, PMID:30777126, PMID:31053700, PMID:31185936, PMID:31319225, PMID:32576985, PMID:2120388 RGD:38599167 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Psap prosaposin ISO
ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar
MouseDO
PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar Annotator: match by OMIM:611722
OMIM
ClinVar
PMID:15773042, PMID:25741868, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        neurodegenerative disease 3186
          Nervous System Heredodegenerative Disorders 1947
            Hereditary Central Nervous System Demyelinating Diseases 40
              Krabbe disease 3
                Krabbe Disease, Atypical, due to Saposin A Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                Lysosomal Storage Diseases, Nervous System 66
                  sphingolipidosis 51
                    Krabbe disease 3
                      Krabbe Disease, Atypical, due to Saposin A Deficiency 2
paths to the root

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