INT310681

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Context Info
Confidence 0.56
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 5
Disease Relevance 6.95
Pain Relevance 0.29

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 cell 1
ARSB (Homo sapiens)
Pain Link Frequency Relevance Heat
cva 40 93.12 High High
Central nervous system 15 84.04 Quite High
headache 5 82.08 Quite High
Inflammatory response 5 34.24 Quite Low
Spinal cord 40 29.68 Quite Low
intrathecal 30 14.00 Low Low
anesthesia 20 5.00 Very Low Very Low Very Low
Antihistamine 10 5.00 Very Low Very Low Very Low
ischemia 5 5.00 Very Low Very Low Very Low
imagery 5 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Mucopolysaccharidoses 690 100.00 Very High Very High Very High
Intellectual Impairment 5 100.00 Very High Very High Very High
Lysosomal Storage Diseases 15 98.78 Very High Very High Very High
Disease 260 98.24 Very High Very High Very High
Syndrome 15 98.16 Very High Very High Very High
Lysosome Storage Disease 80 97.92 Very High Very High Very High
Hearing Impairment 25 97.74 Very High Very High Very High
Arthropathy 20 97.04 Very High Very High Very High
Hydrocephalus 25 96.48 Very High Very High Very High
Cv General 3 Under Development 40 93.12 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Mucopolysaccharidosis VI

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate.

Negative_regulation (deficiency) of arylsulfatase B associated with lysosomal storage diseases and lysosome storage disease
1) Confidence 0.56 Published 2010 Journal Orphanet J Rare Dis Section Title Doc Link PMC2873242 Disease Relevance 1.76 Pain Relevance 0.03
Arylsulfatase B deficiency; ASB deficiency

Definition

Negative_regulation (deficiency) of Arylsulfatase B
2) Confidence 0.56 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 0.57 Pain Relevance 0
The frequent vision loss combined with a hearing impairment due to a combination of conductive and neurosensory loss may contribute to or be misinterpreted as intellectual impairment in MPS VI patients.
Negative_regulation (impairment) of MPS VI associated with intellectual impairment, mucopolysaccharidoses and hearing impairment
3) Confidence 0.48 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 2.13 Pain Relevance 0.22
This double heterozygote identifies the limit of ASB activity needed to prevent MPS VI skeletal disease in the cat as approximately 1% of normal white blood cell ASB.
Negative_regulation (limit) of ASB in white blood cell associated with mucopolysaccharidoses and disease
4) Confidence 0.41 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2873242 Disease Relevance 0.76 Pain Relevance 0
Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation.
Negative_regulation (reduced) of arylsulfatase B
5) Confidence 0.36 Published 2010 Journal Orphanet J Rare Dis Section Abstract Doc Link PMC2873242 Disease Relevance 1.72 Pain Relevance 0.04

General Comments

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