INT279242

Context Info Confidence 0.08 First Reported 2008 Last Reported 2008 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 1.22 Pain Relevance 0

cytoplasm (GLA, SH3GL3) endosome (SH3GL3) small molecule metabolic process (GLA) Golgi apparatus (GLA) lipid binding (SH3GL3) signal transduction (SH3GL3)

Anatomy Link Frequency myocytes 2 GLA (Homo sapiens) SH3GL3 (Homo sapiens)

Pain Link Frequency Relevance Heat ischemia 1 5.76 fibrosis 6 5.00 Central nervous system 5 5.00 Pain 3 5.00 tolerance 2 5.00 cva 2 5.00 Pain score 1 5.00 Neuropathic pain 1 5.00

Disease Link Frequency Relevance Heat Fabry Disease 42 99.14 Left Ventricular Hypertrophy 3 81.52 Cardiovascular Disorder Under Development 1 78.00 Cv General 2 Under Development 3 75.92 Arrhythmia Under Development 1 74.40 Hypohidrosis 1 72.24 Angiokeratoma 2 70.96 Heart Rate Under Development 1 59.76 Renal Disease 43 50.00 Chronic Renal Failure 20 45.80

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

The “cardiac” variant of Fabry disease refers to patients who have some residual alpha-galactosidase A activity, with GL-3 deposition confined to myocytes, and as first described, do not manifest the whole spectrum of symptoms present in classical Fabry disease (von Scheidt et al 1991; Nakao et al 1995).

Negative_regulation (deposition) of alpha-galactosidase Binding (activity) of GL-3 in myocytes associated with fabry disease

1) Confidence 0.08 Published 2008 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2727881 Disease Relevance 1.22 Pain Relevance 0

General Comments

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