INT102696

From wiki-pain
Jump to: navigation, search
Context Info
Confidence 0.46
First Reported 2002
Last Reported 2008
Negated 0
Speculated 0
Reported most in Body
Documents 4
Total Number 5
Disease Relevance 3.68
Pain Relevance 0.27

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

mitochondrion (MRP63) structural constituent of ribosome (MRP63) ribosome (MRP63)
translation (MRP63)
Anatomy Link Frequency
germ line 1
External 1
MRP63 (Homo sapiens)
MRP63 - A3243G (5)
Pain Link Frequency Relevance Heat
Migraine 3 98.92 Very High Very High Very High
Neuritis 2 82.32 Quite High
Disease Link Frequency Relevance Heat
Lactic Acidosis 5 100.00 Very High Very High Very High
Encephalopathy 5 100.00 Very High Very High Very High
Syndrome 5 100.00 Very High Very High Very High
Stroke 3 100.00 Very High Very High Very High
Chronic Progressive External Ophthalmoplegia 11 99.56 Very High Very High Very High
Ophthalmoplegia 3 99.04 Very High Very High Very High
Mitochondrial Myopathies 2 98.96 Very High Very High Very High
Headache 3 98.92 Very High Very High Very High
Convulsion 3 98.52 Very High Very High Very High
Diabetes Mellitus 9 98.16 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
CONCLUSION: We discuss possible causes of this intrafamilial heterogeneity of phenotypes associated with the A3243G mtDNA mutation.


A3243G (A3243G) Binding (associated) of
1) Confidence 0.46 Published 2002 Journal J. Neurol. Sci. Section Body Doc Link 11997068 Disease Relevance 0.31 Pain Relevance 0
The A3243G mtDNA point mutation most frequently causes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, but also has been associated with other phenotypes including CPEO, migraine, seizure, diabetes, and sensorineural hearing loss.
A3243G (A3243G) Binding (associated) of associated with lactic acidosis, diabetes mellitus, chronic progressive external ophthalmoplegia, syndrome, stroke, migraine, sensorineural hearing loss, convulsion and encephalopathy
2) Confidence 0.34 Published 2002 Journal J. Neurol. Sci. Section Abstract Doc Link 11997068 Disease Relevance 1.16 Pain Relevance 0.10
External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.
A3243G (A3243G) Binding (associated) of in External associated with ophthalmoplegia
3) Confidence 0.31 Published 2002 Journal J. Neurol. Sci. Section Title Doc Link 11997068 Disease Relevance 0.66 Pain Relevance 0.09
Indeed, while mtDNA the A3243G mutation is usually associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: MIM 540000) or MIDD (maternally inherited diabetes and deafness: MIM 520000) [19].
A3243G (A3243G) Binding (associated) of associated with deafness, mitochondrial myopathies, lactic acidosis, diabetes mellitus, encephalopathy and syndrome
4) Confidence 0.07 Published 2008 Journal BMC Med Genet Section Body Doc Link PMC2409300 Disease Relevance 1.21 Pain Relevance 0
In light of these facts, we put forward a third hypothesis, (iii): the association of J haplogroup and A3243G is life-threatening, and therefore lethal to the embryo or germ line.
A3243G (A3243G) Binding (association) of in germ line
5) Confidence 0.07 Published 2008 Journal BMC Med Genet Section Body Doc Link PMC2409300 Disease Relevance 0.34 Pain Relevance 0.08

General Comments

This test has worked.

Personal tools
Namespaces

Variants
Actions
Navigation
Toolbox