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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: Diffuse Globoid Body Sclerosis;   Early Onset Globoid Cell Leukodystrophy;   GALC Deficiencies;   GALC Deficiency;   GCL;   GLD;   Galactocerebrosidase Deficiency;   Galactosylceramidase Deficiency Disease;   Galactosylceramide Lipidosis;   Galactosylceramide beta Galactosidase Deficiency;   Galactosylceramide beta Galactosidase Deficiency Disease;   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;   beta galactocerebrosidase deficiency;   classic globoid cell leukodystrophy;   galactocerebrosidase deficiencies;   galactosylceramidase deficiency diseases;   galactosylceramide beta-galactosidase deficiencies;   galactosylceramide-beta-galactosidase deficiency diseases;   late onset globoid cell leukodystrophy;   psychosine lipidosis
 primary_id: MESH:D007965
 alt_id: MIM:245200;   OMIA:000578
 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: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Galc galactosylceramidase ISO
ISS		 ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
OMIM:245200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... RGD:38599167 NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Psap prosaposin ISS
ISO		 OMIM:245200
ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency		 MouseDO
ClinVar		 PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:25741868 NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:117,879,823...117,925,284 		JBrowse link
Atypical Krabbe Disease 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 PMID:28492532 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency		 CTD
ClinVar
OMIM		 PMID:1350885 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        neurodegenerative disease 5069
          Nervous System Heredodegenerative Disorders 3360
            Hereditary Central Nervous System Demyelinating Diseases 122
              Krabbe disease 4
                Atypical Krabbe Disease due to Saposin A Deficiency 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        central nervous system disease 12627
          brain disease 11847
            Metabolic Brain Diseases 1520
              Metabolic Brain Diseases, Inborn 1388
                Lysosomal Storage Diseases, Nervous System 185
                  sphingolipidosis 154
                    Krabbe disease 4
                      Atypical Krabbe Disease due to Saposin A Deficiency 2
paths to the root