INT129970

Context Info Confidence 0.41 First Reported 2005 Last Reported 2005 Negated 0 Speculated 0 Reported most in Abstract Documents 1 Total Number 1 Disease Relevance 0.41 Pain Relevance 0

small molecule metabolic process (GLA) extracellular region (GLA) Golgi apparatus (GLA) lysosome (GLA) cytoplasm (GLA)

Anatomy Link Frequency body 2 GLA (Homo sapiens)

Pain Link Frequency Relevance Heat imagery 3 45.76 Pain 1 25.00

Disease Link Frequency Relevance Heat Lysosome Storage Disease 1 99.60 Fabry Disease 4 98.86 Disease 1 80.32 Congenital Anomalies 4 25.00 Pain 1 25.00 Proteinuria 1 25.00 Angiokeratoma 1 25.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of alpha-galactosidase A (alpha-Gal A) resulting in the storage of glycosphingolipids, especially globotriaosylceramide (Gb3), in cells throughout the body, causing life-threatening renal, cardiac, and cerebrovascular complications in hemizygous males and some heterozygous females.

Negative_regulation (deficient) of alpha-Gal A Binding (activity) of in body associated with fabry disease and lysosome storage disease

1) Confidence 0.41 Published 2005 Journal Medicine (Baltimore) Section Abstract Doc Link 16148726 Disease Relevance 0.41 Pain Relevance 0

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