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Gaucher disease
Autosomal recessive - Loss of Function

Gaucher disease

  • Genotype

    GBA1

  • Mechanism

    Autosomal recessive - Loss of Function

  • Phenotype

    Locomotion, Fatigue, Seizures, Range of motion,Spatial Learning, Dysphagia

  • Biomarker

    Cathepsin D, P62, Glucocerebrosidase

  • Gene Expression Markers

    LAMP1, CD68, IL1B, UGCG

  • Physiology Changes

    Anemia, Hepatomegaly and Spleenomegaly

  • Histology Grading Endpoint

    Lipid accumulation in macrophages and Bone marrow infiltration

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