INT310680

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Context Info
Confidence 0.64
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 6
Disease Relevance 6.28
Pain Relevance 0.12

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

mitochondrion (ARSB) Golgi apparatus (ARSB) lysosome (ARSB)
Anatomy Link Frequency
white blood cells 2
cleavage 1
ARSB (Homo sapiens)
Pain Link Frequency Relevance Heat
nud 6 81.84 Quite High
intrathecal 36 53.84 Quite High
Inflammatory response 6 53.68 Quite High
Spinal cord 48 51.24 Quite High
anesthesia 24 40.80 Quite Low
cva 48 33.72 Quite Low
Central nervous system 18 31.44 Quite Low
headache 6 19.72 Low Low
Antihistamine 12 5.00 Very Low Very Low Very Low
ischemia 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Mucopolysaccharidoses 828 100.00 Very High Very High Very High
Disease 312 99.40 Very High Very High Very High
Disease Progression 30 98.08 Very High Very High Very High
Cleidocranial Dysplasia 72 97.48 Very High Very High Very High
Lysosome Storage Disease 96 95.68 Very High Very High Very High
Osteoarthritis 18 91.92 High High
Dwarfism 6 90.04 High High
Congenital Anomalies 42 89.80 High High
Arthropathy 24 87.76 High High
Hearing Disorder 6 86.72 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
A case history presented by Brooks et al, (2005) [29] describes a very mild case of a female, aged 44 years, at the extreme end of the scale of the slowly progressing patients, without visible or clinical symptoms of MPS VI, who was detected upon routine blood examination to have inclusion bodies in lysosomes of white blood cells, suggestive of a lysosomal storage disorder (LSD).
Gene_expression (detected) of MPS VI in white blood cells associated with mucopolysaccharidoses and lysosome storage disease
1) Confidence 0.64 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 1.63 Pain Relevance 0.04
Each disease-causing mutation impacts the production of a functional ASB enzyme that catalyzes the cleavage of the sulfate ester from non-reducing terminal N -acetylgalactosamine 4-sulfate residues, thereby affecting the catabolism of sulfated oligosaccharide substrates [3]: CS and DS.
Gene_expression (production) of ASB enzyme in cleavage associated with disease
2) Confidence 0.57 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 0.47 Pain Relevance 0.05
In addition a polymorphism may be present on the same gene as an MPS VI mutation, acting as a second factor that may modify the disease progression of the pathologic mutation.
Gene_expression (mutation) of MPS VI associated with mucopolysaccharidoses and disease progression
3) Confidence 0.56 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 0.76 Pain Relevance 0.03
The clinical presentation of MPS VI varies greatly with respect to age of onset and rate of disease progression.
Gene_expression (presentation) of MPS VI associated with mucopolysaccharidoses and disease progression
4) Confidence 0.56 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 0.81 Pain Relevance 0
Slowly progressing MPS VI patients may not demonstrate all the above characteristics of dysostosis multiplex.


Gene_expression (progressing) of MPS VI associated with mucopolysaccharidoses and cleidocranial dysplasia
5) Confidence 0.56 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 2.05 Pain Relevance 0
The compound heterozygous presence of a mild mutation p.D520N with p.L476P enables the expression of approximately 1% of normal white blood cell ASB activity.
Gene_expression (expression) of ASB in white blood cell
6) Confidence 0.56 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 0.56 Pain Relevance 0

General Comments

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