INT121513

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Context Info
Confidence 0.63
First Reported 2004
Last Reported 2010
Negated 2
Speculated 0
Reported most in Body
Documents 21
Total Number 27
Disease Relevance 16.06
Pain Relevance 1.59

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

transferase activity, transferring glycosyl groups (A4GALT) Golgi apparatus (A4GALT) plasma membrane organization (A4GALT)
Anatomy Link Frequency
urine 2
kidney 2
endothelial cells 2
dorsal root ganglia 2
plasma 1
A4GALT (Homo sapiens)
Pain Link Frequency Relevance Heat
Potency 8 95.46 Very High Very High Very High
Bioavailability 4 91.24 High High
aspirin 30 89.44 High High
imagery 169 84.28 Quite High
Lasting pain 10 83.28 Quite High
Central nervous system 15 74.72 Quite High
Pain 241 73.20 Quite High
palliative 13 58.88 Quite High
Neuropathic pain 42 46.72 Quite Low
Angina 7 43.52 Quite Low
Disease Link Frequency Relevance Heat
Fabry Disease 1628 99.84 Very High Very High Very High
Lysosome Storage Disease 71 99.42 Very High Very High Very High
Targeted Disruption 23 99.26 Very High Very High Very High
Lysosomal Storage Diseases 18 98.40 Very High Very High Very High
Renal Failure 22 98.08 Very High Very High Very High
Natriuresis 7 97.68 Very High Very High Very High
Disease 455 97.00 Very High Very High Very High
Hypertrophy 22 96.68 Very High Very High Very High
Stroke 129 95.44 Very High Very High Very High
Lifespan 1 94.00 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Fabry disease is an X-linked, hereditary, lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of the neutral glycosphingolipid globotriaosylceramide (Gb3) in the walls of small blood vessels, nerves, dorsal root ganglia, renal glomerular and tubular epithelial cells, and cardiomyocytes.
Positive_regulation (accumulation) of Gb3 in blood vessels associated with lysosomal storage diseases and fabry disease
1) Confidence 0.63 Published 2007 Journal Ann. Intern. Med. Section Abstract Doc Link 17371887 Disease Relevance 0.50 Pain Relevance 0.08
Gb3 levels are also elevated in the urine of females, although plasma Gb3 levels are not reliably elevated.
Positive_regulation (elevated) of Gb3 in urine
2) Confidence 0.59 Published 2008 Journal Acta Paediatr Suppl Section Abstract Doc Link 18339187 Disease Relevance 0.52 Pain Relevance 0.07
Gb3 levels are also elevated in the urine of females, although plasma Gb3 levels are not reliably elevated.
Neg (not) Positive_regulation (elevated) of Gb3 in urine
3) Confidence 0.59 Published 2008 Journal Acta Paediatr Suppl Section Abstract Doc Link 18339187 Disease Relevance 0.52 Pain Relevance 0.07
The subsequent accumulation of globotriaosylceramide (Gb3) in cells and tissues of the body has multisystemic effects and significantly impacts upon quality of life and survival of individuals with this condition.
Positive_regulation (accumulation) of Gb3 in body
4) Confidence 0.37 Published 2008 Journal Acta Paediatr Suppl Section Abstract Doc Link 18339187 Disease Relevance 0.43 Pain Relevance 0
This leads to a progressive accumulation of globotriaosylceramide (Gb3) in the lysosomes of different cells and tissues, causing principally ventricular hypertrophy, renal failure and cerebrovascular accidents, reducing lifespan both in hemizygous males and heterozygous females.
Positive_regulation (accumulation) of Gb3 associated with hypertrophy, lifespan, stroke and renal failure
5) Confidence 0.36 Published 2010 Journal Curr. Med. Chem. Section Abstract Doc Link 20345350 Disease Relevance 0.78 Pain Relevance 0
Attenuated UMOD-expression was suspected to be directly linked to lysosomal storage processes as both, UMOD and accumulated Gb3 meet in the Henle-Loop of the kidney.
Positive_regulation (accumulated) of Gb3 in kidney associated with lysosome storage disease
6) Confidence 0.21 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2768700 Disease Relevance 0.73 Pain Relevance 0
Fabry disease is an X-linked, hereditary, lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of the neutral glycosphingolipid globotriaosylceramide (Gb3) in the walls of small blood vessels, nerves, dorsal root ganglia, renal glomerular and tubular epithelial cells, and cardiomyocytes.
Positive_regulation (accumulation) of Gb3 in nerves associated with lysosomal storage diseases and fabry disease
7) Confidence 0.21 Published 2007 Journal Ann. Intern. Med. Section Abstract Doc Link 17371887 Disease Relevance 0.50 Pain Relevance 0.08
Fabry disease is an X-linked, hereditary, lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of the neutral glycosphingolipid globotriaosylceramide (Gb3) in the walls of small blood vessels, nerves, dorsal root ganglia, renal glomerular and tubular epithelial cells, and cardiomyocytes.
Positive_regulation (accumulation) of Gb3 in dorsal root ganglia associated with lysosomal storage diseases and fabry disease
8) Confidence 0.21 Published 2007 Journal Ann. Intern. Med. Section Abstract Doc Link 17371887 Disease Relevance 0.50 Pain Relevance 0.08
Before treatment, results of skin biopsies from 12 male patients showed moderate or severe Gb3 accumulation in superficial dermal capillary endothelial cells; with treatment, these cells were completely cleared of Gb3 in week-24 biopsies from all 12 male patients and in all available week-48 biopsies.
Positive_regulation (accumulation) of Gb3 in endothelial cells
9) Confidence 0.20 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC3009617 Disease Relevance 0.21 Pain Relevance 0.07
Lyso-Gb3 could be a potential biomarker since plasma lyso-Gb3 level in Fabry patients who had received ERT was shown to be elevated at baseline and to fall more dramatically on ERT than that of Gb3 [282].
Positive_regulation (elevated) of Gb3 in plasma
10) Confidence 0.16 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC3009617 Disease Relevance 0.93 Pain Relevance 0.03
Urinary sediment examination can reveal casts, erythrocytes and cells containing accumulated Gb3.
Positive_regulation (accumulated) of Gb3 in erythrocytes
11) Confidence 0.16 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC3009617 Disease Relevance 0.86 Pain Relevance 0
Transplanted kidneys remain free of Gb3 accumulation and 5-year organ survival is above average for renal transplants [315-318].


Positive_regulation (accumulation) of Gb3
12) Confidence 0.16 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC3009617 Disease Relevance 1.54 Pain Relevance 0.11
Globotriaosylsphingosine or lyso-Gb3 has been reported to be elevated in FD patients.
Positive_regulation (elevated) of Gb3 associated with fabry disease
13) Confidence 0.16 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC3009617 Disease Relevance 0.89 Pain Relevance 0.04
The deficiency leads to progressive glycosphingolipid globotriaosylceramide (Gb3) accumulation in fluids and tissues, including vascular endothelium, connective tissue, kidney, heart, brain and peripheral nerves.
Positive_regulation (accumulation) of Gb3 in heart
14) Confidence 0.15 Published 2004 Journal J. Nephrol. Section Abstract Doc Link 15365954 Disease Relevance 0.55 Pain Relevance 0.10
Measurement of the accumulated urinary Gb3 has been proposed [258], but its reliability as a biomarker of FD, particularly in females, is unproven [262,271].
Positive_regulation (accumulated) of Gb3 associated with fabry disease
15) Confidence 0.14 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC3009617 Disease Relevance 0.51 Pain Relevance 0
However urinary Gb3 is not elevated in some patients with late-onset variants and/or particular mutations in the GLA gene (p.Asn215Ser) [261-263].
Neg (not) Positive_regulation (elevated) of Gb3
16) Confidence 0.14 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC3009617 Disease Relevance 0.15 Pain Relevance 0.04
Agalsidase alfa (Replagal™) in the treatment of Anderson-Fabry disease

Anderson-Fabry disease (AFD) is an X-linked storage disorder caused by a deficiency of the lysosomal hydrolase a-galactosidase A (AGAL) and the resultant accumulation of its glycosphingolipid substrate (Gb3) in several tissue types.

Positive_regulation (accumulation) of Gb3 associated with fabry disease
17) Confidence 0.11 Published 2007 Journal Biologics : Targets & Therapy Section Title Doc Link PMC2721310 Disease Relevance 0.68 Pain Relevance 0.03
A complete GLA knockout model was generated that shows some Gb3 accumulation in various organs and tissues [61].
Positive_regulation (accumulation) of Gb3 associated with targeted disruption
18) Confidence 0.10 Published 2010 Journal Current Chemical Genomics Section Body Doc Link PMC2995157 Disease Relevance 0.33 Pain Relevance 0.08
Fabry disease is an X-linked lysosomal disorder caused by a deficiency of alpha-galactosidase A (GALA) resulting in accumulation of alpha-D-galactosyl conjugates, particularly globotriosylceramide in a variety of cell types [1,2], including dorsal root ganglia [3].
Positive_regulation (accumulation) of alpha-D-galactosyl in dorsal root ganglia associated with fabry disease
19) Confidence 0.08 Published 2008 Journal BMC Neurol Section Body Doc Link PMC2585087 Disease Relevance 0.49 Pain Relevance 0
Depending on the potency and selectivity of active compounds identified in the above processes, a probe can be defined if the potencies (IC50/EC50) of the identified agents are less than 1 µM, and if they selectively act on GLA and effectively reduce Gb3 accumulation in patient cells.
Positive_regulation (accumulation) of Gb3 associated with potency
20) Confidence 0.06 Published 2010 Journal Current Chemical Genomics Section Body Doc Link PMC2995157 Disease Relevance 0.15 Pain Relevance 0.09

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