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ONTOLOGY REPORT - ANNOTATIONS


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:C61254
For additional species annotation, visit the Alliance of Genome Resources.


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Krabbe disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Galc galactosylceramidase JBrowse link 6 122,177,195 122,239,411 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
RGD:13592920
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        neurodegenerative disease 2936
          Nervous System Heredodegenerative Disorders 1726
            Hereditary Central Nervous System Demyelinating Diseases 39
              Krabbe disease 3
                Krabbe Disease, Atypical, due to Saposin A Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        central nervous system disease 8352
          brain disease 7703
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                Lysosomal Storage Diseases, Nervous System 62
                  sphingolipidosis 46
                    Krabbe disease 3
                      Krabbe Disease, Atypical, due to Saposin A Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.