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x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.

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Data Correlations | 2 studies

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Genes category icon Genes
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GLA 100 100
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Biogroups category icon Biogroups
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Glycosphingolipid Biosynthesis Glob… 100 100
Globoside Metabolism 100 100
Galactose Metabolism 97 97
Glycosphingolipid Metabolism 96 96
Aldolase-type TIM barrel 96 96
Sphingolipid Metabolism 95 95
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Individual Studies

  • OMIM - Congenital disorder

    Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data

  • Mouse Phenotypes - Kidney diseases

    Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data
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Associated Researchers

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Thought leaders and organizations working on research involving Fabry's disease.

View All Author iconAuthors
  • Michael Beck
  • M Beck
  • Robert J Desnick
  • William R Wilcox
  • Maryam Banikazemi
View All Clinical trial sponsors icon Clinical Trials Sponsors
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • Genzyme
  • Amicus Therapeutics
  • University of Alabama at Birmingham
  • University of Rostock
View All Affiliations icon Organizations
  • University College London
  • University of Cincinnati College of Medicine
  • Institute of Metabolic Disease
  • Meiji Pharmaceutical University
  • Faculty of Medicine and Biology

Clinical Trials | 54 trials

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News | 3 stories

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