INT192791

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Context Info
Confidence 0.16
First Reported 2006
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 3
Disease Relevance 5.64
Pain Relevance 0.25

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

cytosol (MVK) small molecule metabolic process (MVK) peroxisome (MVK)
cytoplasm (MVK)
MVK (Homo sapiens)
Pain Link Frequency Relevance Heat
Inflammation 16 99.60 Very High Very High Very High
cytokine 3 89.76 High High
anakinra 5 87.20 High High
Arthritis 4 54.48 Quite High
corticosteroid 7 5.00 Very Low Very Low Very Low
cINOD 7 5.00 Very Low Very Low Very Low
antagonist 4 5.00 Very Low Very Low Very Low
Infliximab 4 5.00 Very Low Very Low Very Low
abdominal pain 2 5.00 Very Low Very Low Very Low
rheumatoid arthritis 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 14 99.78 Very High Very High Very High
INFLAMMATION 22 99.60 Very High Very High Very High
Mevalonate Kinase Deficiency 81 98.84 Very High Very High Very High
Syndrome 95 98.62 Very High Very High Very High
Hypergammaglobulinemia 4 98.28 Very High Very High Very High
Fever 50 94.76 High High
Dementia 8 93.00 High High
Failure To Thrive 8 92.00 High High
Ataxia 17 90.76 High High
Cataract 9 85.60 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.

Negative_regulation (deficiency) of mevalonate kinase associated with mevalonate kinase deficiency, hypergammaglobulinemia, syndrome and disease
1) Confidence 0.16 Published 2006 Journal Orphanet J Rare Dis Section Title Doc Link PMC1475558 Disease Relevance 2.51 Pain Relevance 0
MVA is an autosomal recessively inherited disorder caused by deficiency of mevalonate kinase (MVK; E.C. 2.7.1.36; ATP:(R)-mevalonate 5-phosphotransferase) and identified as the first defect in cholesterol biosynthesis (Figure 1) by Hoffmann et al. in 1986 [1].
Negative_regulation (deficiency) of mevalonate kinase associated with mevalonate kinase deficiency
2) Confidence 0.14 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1475558 Disease Relevance 1.43 Pain Relevance 0.04
MVK is essential for isoprenoid metabolism, which has end products such as cholesterol, ubiquinone and dolichol, as well as a role in isoprenylation of proteins.[3] How a deficiency of mevalonate kinase leads to inflammation is incompletely understood.
Negative_regulation (deficiency) of mevalonate kinase associated with inflammation
3) Confidence 0.01 Published 2009 Journal Pediatr Rheumatol Online J Section Body Doc Link PMC2731058 Disease Relevance 1.70 Pain Relevance 0.21

General Comments

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