INT207777

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Context Info
Confidence 0.07
First Reported 2007
Last Reported 2007
Negated 0
Speculated 1
Reported most in Body
Documents 1
Total Number 11
Disease Relevance 14.51
Pain Relevance 1.91

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

protein transporter activity (Ap3d1) transport (Ap3d1) vesicle-mediated transport (Ap3d1)
Golgi apparatus (Ap3d1) cytoplasm (Ap3d1)
Anatomy Link Frequency
muscle 1
skeletal muscle 1
Ap3d1 (Mus musculus)
Pain Link Frequency Relevance Heat
anesthesia 253 99.32 Very High Very High Very High
dopamine receptor 11 95.44 Very High Very High Very High
ketamine 11 94.08 High High
Catecholamine 11 92.32 High High
Regional anesthesia 11 92.24 High High
antagonist 22 88.16 High High
Dopamine 11 87.68 High High
halothane 165 86.64 High High
sodium channel 55 75.04 Quite High
cocaine 11 69.92 Quite High
Disease Link Frequency Relevance Heat
Malignant Hyperthermia 1859 100.00 Very High Very High Very High
Disease 88 100.00 Very High Very High Very High
Central Core Disease 242 99.80 Very High Very High Very High
Syndrome 231 98.28 Very High Very High Very High
Heat Stroke 55 97.00 Very High Very High Very High
Rhabdomyolysis 154 96.04 Very High Very High Very High
Muscle Rigidity 198 95.24 Very High Very High Very High
Acidosis 66 94.56 High High
Contracture 110 94.40 High High
Frailty 55 92.28 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
An important feature of CCD is its close association with MH susceptibility.
MH Binding (association) of associated with malignant hyperthermia and central core disease
1) Confidence 0.07 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 2.21 Pain Relevance 0.06
Amongst these loci, mutations with a clear association with MH have been identified in only one gene, CACNA1S, encoding the alpha subunit of the dihydropyridine receptor, the voltage sensor of the skeletal muscle calcium release channel [29,42,43].
MH Spec (clear) Binding (association) of in skeletal muscle associated with malignant hyperthermia
2) Confidence 0.06 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 0.53 Pain Relevance 0.03
The muscle relaxant succinylcholine is also a trigger for MH.
MH Binding (trigger) of in muscle associated with malignant hyperthermia
3) Confidence 0.06 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 1.20 Pain Relevance 0.33
Since then, about 50% of MH have been linked to RYR1 with over 100 mutations associated with MH, identified within this gene [41].
MH Binding (associated) of associated with malignant hyperthermia
4) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 0.52 Pain Relevance 0.04
Early recognition of the signs of MH, specifically elevation of end-expired carbon dioxide, provides the clinical diagnostic clues.
MH Binding (recognition) of associated with malignant hyperthermia
5) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Abstract Doc Link PMC1867813 Disease Relevance 1.70 Pain Relevance 0.04
Patient supported MH associations exist in France, Germany, Switzerland, Japan, United Kingdom and several other countries.
MH Binding (associations) of associated with malignant hyperthermia
6) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 1.06 Pain Relevance 0.13
Management of the MH susceptible for anesthesia
MH Binding (Management) of associated with anesthesia and malignant hyperthermia
7) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 1.25 Pain Relevance 0.51
There does not appear to be any cross over susceptibility to MH or vice versa.
MH Binding (cross) of associated with malignant hyperthermia
8) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 1.72 Pain Relevance 0.25
All inhalation anesthetics except nitrous oxide are triggers for MH.
MH Binding (triggers) of associated with malignant hyperthermia
9) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 1.17 Pain Relevance 0.34
Taken together, these observations suggest that there may be a subset of RYR1 mutations that result in both MH and MmCD and a subset that are associated only with MmCD, similar to the situation with MH and CCD.
MH Binding (associated) of associated with central core disease, disease and malignant hyperthermia
10) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 2.30 Pain Relevance 0.04
In addition, dantrolene sodium (known to reverse signs of MH) has been found to bind to a specific ryanodine protein site [27].
MH Binding (bind) of associated with malignant hyperthermia
11) Confidence 0.04 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 0.85 Pain Relevance 0.14

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