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Prader–Willi Syndrome
Loss of Function

Prader–Willi Syndrome

  • Genotype

    Ndl2

  • Mechanism

    Loss of Function

  • Phenotype

    Cognitive Impairment, Hyperphagia, Reward seeking behavior, Compulsivity, Aggression, Anxiety, Social isolation 

  • Biomarker

    CRP, Ghrelin, Leptin, Insulin, Adiponectin , Triglycerides, Total cholesterol

  • Gene Expression Markers

    MAGEL2, SNORD116, SNRPN, NPY 
    AGR, TH ,GH1, IGF1 ,POMC

  • Physiology Changes

    Hypotonia, Hypogonadism, Hypotonia, Reduced growth, EEG - Reduced REM sleep, Abnormal sleep spindle activity, Spike discharges

  • Histology Grading Endpoint

    Reduction in neuronal density, Pituitary gland abnormalities, Adipose tissue hypertrophy, Reduced muscle fiber size, Immature gonadal formation

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