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GCL
MCID: KRB001
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Krabbe Disease malady |
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14 genes, 4 tissues, 455 related diseases, 15 phenotypes, 57 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 31NINDS, 17Genetics Home Reference, 15GeneReviews, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: 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.30
MalaCards: Krabbe Disease, also known as globoid cell leukodystrophy, is related to leukodystrophy and lipid storage disease. An important gene associated with Krabbe Disease is GALC (galactosylceramidase), and among its related pathways are Immune response_CD16 signaling in NK cells and Sphingolipid metabolism. The compounds phosphatidylserine and psychosine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and kidney, and related mouse phenotypes are hematopoietic system and skeleton. NINDS: Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems.31 Genetics Home Reference: Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.17 Wikipedia: Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare,...44 more... OMIM: 245200 GeneReviews summary for krabbe |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 24MeSH, 40SNOMED-CT, 27NCIt See all sources |
Aliases & Descriptions:
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 245200
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 21LifeMap Discovery™, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for krabbe disease Drug clinical trials:Search ClinicalTrials for krabbe disease Search NIH Clinical Center for krabbe disease Search CenterWatch for krabbe disease Cell-based therapeutics: The database of embryonic development, stem cell research and regenerative medicine Stem-Cell-Based therapeutic approaches for krabbe disease:
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to krabbe disease:22Brain, Spinal cord, Kidney, T cells
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to krabbe disease:25 (show all 15)
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Sources: 35PubMed See all sources |
Articles related to krabbe disease:(show top 50) (show all 57)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 20KEGG, 36QIAGEN, 38Reactome, 34PharmGKB, 10EMD Millipore See all sources |
Pathways related to krabbe disease according to GeneDecks:(show all 30)
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience See all sources |
Compounds related to krabbe disease according to GeneDecks:(show top 50) (show all 90)
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Sources: 12Gene Ontology See all sources |
Cellular components related to krabbe disease according to GeneDecks:
Biological processes related to krabbe disease according to GeneDecks:(show all 14)
Molecular functions related to krabbe disease according to GeneDecks:
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