INT3491

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Context Info
Confidence 0.57
First Reported 1979
Last Reported 2010
Negated 0
Speculated 0
Reported most in Abstract
Documents 8
Total Number 11
Disease Relevance 4.32
Pain Relevance 0.62

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

transport (CPT2) mitochondrion (CPT2) small molecule metabolic process (CPT2)
nucleolus (CPT2) nucleus (CPT2) transferase activity, transferring acyl groups (CPT2)
Anatomy Link Frequency
muscle 4
leucocytes 2
skeletal muscle 2
juvenile 1
CPT2 (Homo sapiens)
Pain Link Frequency Relevance Heat
Pain 33 97.80 Very High Very High Very High
agonist 4 68.52 Quite High
peripheral neuropathy 8 66.80 Quite High
halothane 8 5.00 Very Low Very Low Very Low
Glutamate 4 5.00 Very Low Very Low Very Low
antiepileptic Drug 4 5.00 Very Low Very Low Very Low
backache 4 5.00 Very Low Very Low Very Low
positron emission tomography 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Rhabdomyolysis 21 98.88 Very High Very High Very High
Syndrome 18 98.56 Very High Very High Very High
Myalgia 23 98.08 Very High Very High Very High
Myoglobinuria 38 97.44 Very High Very High Very High
Hypoglycemia 40 96.86 Very High Very High Very High
Liver Failure 4 95.72 Very High Very High Very High
Hypertrophic Cardiomyopathy 8 95.36 Very High Very High Very High
Muscle Weakness 40 95.00 High High
Coronary Heart Disease 68 90.16 High High
Hepatomegaly 8 88.52 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Deficiency of carnitine palmitoyltransferase II (CPT II), was found to be the cause of the syndrome of muscle pain and myoglobinuria following strenuous exercise in an otherwise healthy young man.
Negative_regulation (Deficiency) of CPT II in muscle associated with pain, myoglobinuria, syndrome and myalgia
1) Confidence 0.57 Published 1979 Journal J. Neurol. Sci. Section Abstract Doc Link 762593 Disease Relevance 0.29 Pain Relevance 0.10
Deficiency of carnitine palmitoyltransferase II (CPT II), was found to be the cause of the syndrome of muscle pain and myoglobinuria following strenuous exercise in an otherwise healthy young man.
Negative_regulation (Deficiency) of carnitine palmitoyltransferase II in muscle associated with pain, myoglobinuria, syndrome and myalgia
2) Confidence 0.57 Published 1979 Journal J. Neurol. Sci. Section Abstract Doc Link 762593 Disease Relevance 0.29 Pain Relevance 0.10
CPT II was deficient in skeletal muscle and leucocytes, while CPT I activity was normal and exhibited normal kinetic properties.
Negative_regulation (deficient) of CPT II in leucocytes
3) Confidence 0.57 Published 1979 Journal J. Neurol. Sci. Section Abstract Doc Link 762593 Disease Relevance 0.26 Pain Relevance 0.09
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.
Negative_regulation (deficiency) of Carnitine palmitoyltransferase II in skeletal muscle
4) Confidence 0.42 Published 1979 Journal J. Neurol. Sci. Section Title Doc Link 762593 Disease Relevance 0.28 Pain Relevance 0.09
Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder characterized by myalgia, exercise intolerance, and rhabdomyolysis.
Negative_regulation (deficiency) of CPT2 associated with rhabdomyolysis and myalgia
5) Confidence 0.40 Published 2010 Journal Clin. Pharmacol. Ther. Section Abstract Doc Link 20505667 Disease Relevance 0.19 Pain Relevance 0
Clinical FeaturesAccording to the age of onset, three phenotypes have been described [102–105]: a severe “infantile form” presenting in the neonatal period with hypertrophic cardiomyopathy and liver failure, a “childhood-onset” type with hypoketotic hypoglycaemia, and a “juvenile or adult-onset” muscular form characterized by recurrent episodes of rhabdomyolysis triggered by prolonged exercise or fasting (similar to CPT2 deficiency).
Negative_regulation (deficiency) of CPT2 in juvenile associated with hypoglycemia, liver failure, hypertrophic cardiomyopathy and rhabdomyolysis
6) Confidence 0.35 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2877206 Disease Relevance 0.73 Pain Relevance 0.03
There are three phenotypes of CPT2 deficiency: the “classic muscular form” (OMIM 255110) is most frequent and shows onset in childhood or adulthood with exercise-induced muscle weakness and rhabdomyolysis.
Negative_regulation (deficiency) of CPT2 in muscle associated with rhabdomyolysis and muscle weakness
7) Confidence 0.35 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2877206 Disease Relevance 0.33 Pain Relevance 0.03
Milder phenotypes suggest little evidence for genotype-phenotype correlation [86].The presence of only one severe mutation (the other being a milder one) in a CPT2 deficient patient might be sufficient to lead to life-threatening events [92].
Negative_regulation (deficient) of CPT2
8) Confidence 0.35 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2877206 Disease Relevance 0.46 Pain Relevance 0
Muscle CPT2 deficiency clinically manifests in patients harboring only a single heterozygous mutation [91].
Negative_regulation (deficiency) of CPT2 in Muscle
9) Confidence 0.30 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2877206 Disease Relevance 0.94 Pain Relevance 0
CPT II was deficient in skeletal muscle and leucocytes, while CPT I activity was normal and exhibited normal kinetic properties.
Negative_regulation (deficient) of CPT II in skeletal muscle
10) Confidence 0.19 Published 1979 Journal J. Neurol. Sci. Section Abstract Doc Link 762593 Disease Relevance 0.26 Pain Relevance 0.09
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.
Negative_regulation (deficiency) of Carnitine palmitoyltransferase II in leucocytes
11) Confidence 0.14 Published 1979 Journal J. Neurol. Sci. Section Title Doc Link 762593 Disease Relevance 0.28 Pain Relevance 0.09

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