INT82648

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Context Info
Confidence 0.50
First Reported 1999
Last Reported 2010
Negated 0
Speculated 1
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 2.77
Pain Relevance 0.08

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

small molecule metabolic process (GBA) hydrolase activity, acting on glycosyl bonds (GBA) cell death (GBA)
carbohydrate metabolic process (GBA) lipid metabolic process (GBA)
Anatomy Link Frequency
macrophages 2
GBA (Homo sapiens)
Pain Link Frequency Relevance Heat
Angina 1 76.04 Quite High
palliative 2 6.88 Low Low
Pain 8 5.00 Very Low Very Low Very Low
chemokine 4 5.00 Very Low Very Low Very Low
imagery 4 5.00 Very Low Very Low Very Low
cytokine 2 5.00 Very Low Very Low Very Low
fibrosis 2 5.00 Very Low Very Low Very Low
Inflammation 2 5.00 Very Low Very Low Very Low
peripheral neuropathy 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Parkinson's Disease 4 96.56 Very High Very High Very High
Disease 50 95.98 Very High Very High Very High
Gauchers Disease 172 95.04 Very High Very High Very High
Neurologic Manifestations 16 92.24 High High
Exanthema 1 81.80 Quite High
Leukopenia 2 81.72 Quite High
Infection 16 81.00 Quite High
Anaemia 7 80.08 Quite High
Hemorrhage 5 78.72 Quite High
Angina 1 76.04 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
This sensitivity to imiglucerase but not to alglucerase, raises the question of future treatment for this patient, since the production of alglucerase may cease, once imiglucerase production will cover the need for replacement enzyme.
Spec (may) Positive_regulation (cease) of Gene_expression (production) of alglucerase
1) Confidence 0.50 Published 1999 Journal Blood Cells Mol. Dis. Section Abstract Doc Link 10389590 Disease Relevance 0.85 Pain Relevance 0.08
Moreover, it is now known that mutations in the human GBA1 gene, present in the heterozygous state in individuals of numerous ethnic origins and not hitherto identified as suffering from Gaucher disease, are the most prevalent genetic determinants of Parkinson’s disease so far identified in many populations.10
Positive_regulation (mutations) of Gene_expression (gene) of GBA1 associated with gauchers disease and disease
2) Confidence 0.50 Published 2010 Journal Biologics : Targets & Therapy Section Body Doc Link PMC3010821 Disease Relevance 1.37 Pain Relevance 0
From this case and a few others reported, it is clear that most, if not all, key aspects of the systemic disease are due to defective cells of mononuclear phagocytic lineage and thus may be corrected by supplying healthy exogenous hematopoietic stem cells or by transducing autologous stem cells with vectors for transferring the wild-type human glucocerebrosidase gene in order to restore the capacity of tissue macrophages to digest glycolipids normally.


Positive_regulation (transferring) of Gene_expression (transferring) of glucocerebrosidase gene in macrophages associated with disease
3) Confidence 0.47 Published 2010 Journal Biologics : Targets & Therapy Section Body Doc Link PMC3010821 Disease Relevance 0.55 Pain Relevance 0

General Comments

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