INT91100

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Context Info
Confidence 0.47
First Reported 2000
Last Reported 2010
Negated 0
Speculated 1
Reported most in Body
Documents 10
Total Number 11
Disease Relevance 12.85
Pain Relevance 5.71

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

small molecule metabolic process (SPTLC1) endoplasmic reticulum (SPTLC1) biosynthetic process (SPTLC1)
transferase activity, transferring acyl groups (SPTLC1)
Anatomy Link Frequency
DSN 1
joints 1
brain 1
foot 1
Tooth 1
SPTLC1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Hsan 484 100.00 Very High Very High Very High
Pain 32 97.64 Very High Very High Very High
Spinal cord 5 96.16 Very High Very High Very High
Hippocampus 2 87.20 High High
imagery 11 82.52 Quite High
ischemia 1 76.16 Quite High
Inflammation 4 75.00 Quite High
glial activation 2 75.00 Quite High
c fibre 3 36.76 Quite Low
unmyelinated 16 30.88 Quite Low
Disease Link Frequency Relevance Heat
Hereditary Sensory And Autonomic Neuropathies 591 100.00 Very High Very High Very High
Neuropathic Pain 88 100.00 Very High Very High Very High
Amelanotic Melanoma 5 99.92 Very High Very High Very High
Skin Ulcer 28 99.76 Very High Very High Very High
Injury 29 99.72 Very High Very High Very High
Frailty 6 99.68 Very High Very High Very High
Skin Cancer 5 98.92 Very High Very High Very High
Deafness 13 98.72 Very High Very High Very High
Charcot Marie Tooth Disease 34 98.64 Very High Very High Very High
Diabetic Foot Ulcer 20 98.56 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Results of linkage analysis excluded the Charcot-Marie-Tooth 2A (CMT2A) and CMT2B loci and suggested the possibility of a linkage to HSAN-I locus on 9q22.1-q22.3.
HSAN-I Binding (linkage) of in Tooth associated with charcot marie tooth disease and hereditary sensory and autonomic neuropathies
1) Confidence 0.47 Published 2000 Journal Muscle Nerve Section Abstract Doc Link 11003785 Disease Relevance 0.93 Pain Relevance 0.07
Mammalian SPT is a heterodimer of 53-kDa LCB1 and 63-kDa LCB2 subunits, both of which are bound to the endoplasmic reticulum (ER) most likely with the type I topology, whereas other members of the POAS family are soluble homodimer enzymes.
LCB1 Spec (likely) Binding (bound) of in reticulum
2) Confidence 0.40 Published 2003 Journal Biochim. Biophys. Acta Section Abstract Doc Link 12782147 Disease Relevance 0.17 Pain Relevance 0.05
Large families in which mutations in SPTLC1 and RAB7 are excluded can be used for genome wide linkage studies to detect a novel HSN I locus or to confirm linkage to the third known HSN I locus (i.e. the HSN IB locus).
HSN Binding (linkage) of associated with hsan
3) Confidence 0.37 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 1.63 Pain Relevance 1.37
Large families in which mutations in SPTLC1 and RAB7 are excluded can be used for genome wide linkage studies to detect a novel HSN I locus or to confirm linkage to the third known HSN I locus (i.e. the HSN IB locus).
HSN Binding (linkage) of associated with hsan
4) Confidence 0.37 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 1.56 Pain Relevance 1.30
Management of HSN I follows the guidelines given for diabetic foot care (removal of pressure to the ulcer and eradication of infection, followed by the use of specific protective footwear) and starts with early and accurate counselling of patients about risk factors for developing foot ulcerations.
HSN Binding (Management) of in foot associated with diabetic foot ulcer, ulcers and infection
5) Confidence 0.37 Published 2008 Journal Orphanet J Rare Dis Section Abstract Doc Link PMC2311280 Disease Relevance 1.98 Pain Relevance 0.21
Large families in which mutations in SPTLC1 and RAB7 are excluded can be used for genome wide linkage studies to detect a novel HSN I locus or to confirm linkage to the third known HSN I locus (i.e. the HSN IB locus).
HSN Binding (linkage) of associated with hsan
6) Confidence 0.37 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 1.55 Pain Relevance 1.28
Also, linkage to the known HSN I loci has been excluded in a few further families with autosmal dominant inheritance.
HSN I loci Binding (linkage) of associated with hsan
7) Confidence 0.36 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 0.88 Pain Relevance 0.64
HSAN II is associated with frequent occurrence of unrecognized injuries and fractures of hands, feet, and limbs, as well as Charcot joints [1,17,19].
HSAN Binding (associated) of in joints associated with charcot marie tooth disease, injury and hereditary sensory and autonomic neuropathies
8) Confidence 0.34 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2098750 Disease Relevance 1.44 Pain Relevance 0.09
This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with HSAN IV.
HSAN Binding (diagnosed) of associated with hereditary sensory and autonomic neuropathies
9) Confidence 0.19 Published 2006 Journal Neuromuscul. Disord. Section Abstract Doc Link 16373086 Disease Relevance 0.75 Pain Relevance 0.14
The brain of a patient with hereditary sensory neuropathy type 1 (HSN-1) associated with sensorineural deafness and early-onset dementia was neuropathologically investigated.
HSN-1 Binding (patient) of in brain associated with deafness, dementia and hsan
10) Confidence 0.17 Published 2004 Journal Neurosci. Lett. Section Abstract Doc Link 15337262 Disease Relevance 0.66 Pain Relevance 0.33
Both HSAN1 and DSN are associated with skin ulcers, which is not a common feature in other peripheral neuropathies.
HSAN1 Binding (associated) of in DSN associated with neuropathic pain, peripheral neuropathy and skin ulcer
11) Confidence 0.13 Published 2010 Journal Lipids Health Dis Section Body Doc Link PMC2931514 Disease Relevance 1.30 Pain Relevance 0.23

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