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MCID: GNG001
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Gangliosidosis Gm1 malady |
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. The three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. This condition is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive fashion.30
MalaCards: Gangliosidosis Gm1, also known as gm1 gangliosidosis, is related to sandhoff disease and tay-sachs disease. An important gene associated with Gangliosidosis Gm1 is GLB1 (galactosidase, beta 1), and among its related pathways are Galactose metabolism and Glycosphingolipid biosynthesis - ganglio series. The compounds galactosylceramide and lactosylceramide have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism. Genetics Home Reference: GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.17 Wikipedia: The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the...44 more... |
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Sources: 6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 43UMLS, 33OMIM, 40SNOMED-CT, 24MeSH, 27NCIt See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for gangliosidosis gm1 Drug clinical trials:Search ClinicalTrials for gangliosidosis gm1 Search NIH Clinical Center for gangliosidosis gm1 Search CenterWatch for gangliosidosis gm1 |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to gangliosidosis gm1:22Brain, Spinal cord
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to gangliosidosis gm1:25
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Sources: 1BioGPS See all sources |
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Sources: 20KEGG, 10EMD Millipore, 38Reactome See all sources |
Pathways related to gangliosidosis gm1 according to GeneDecks:
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Sources: 32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB See all sources |
Compounds related to gangliosidosis gm1 according to GeneDecks:(show all 30)
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Sources: 12Gene Ontology See all sources |
Cellular components related to gangliosidosis gm1 according to GeneDecks:
Biological processes related to gangliosidosis gm1 according to GeneDecks:(show all 8)
Molecular functions related to gangliosidosis gm1 according to GeneDecks:
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