INT81955

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Context Info
Confidence 0.70
First Reported 1999
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 12
Total Number 14
Disease Relevance 10.25
Pain Relevance 3.12

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
sympathetic 2
skin 1
SPTLC1 (Homo sapiens)
SPTLC1 - V144D (1)
Pain Link Frequency Relevance Heat
Hsan 388 100.00 Very High Very High Very High
lancinating pain 5 97.32 Very High Very High Very High
Nerve growth factor 2 96.60 Very High Very High Very High
unmyelinated 16 90.80 High High
imagery 9 86.68 High High
Pain 37 85.20 High High
Action potential 3 84.12 Quite High
hyperpathia 1 63.08 Quite High
ischemia 3 36.88 Quite Low
Neuropathic pain 3 25.36 Quite Low
Disease Link Frequency Relevance Heat
Hereditary Sensory And Autonomic Neuropathies 489 100.00 Very High Very High Very High
Neuropathic Pain 114 100.00 Very High Very High Very High
Foot Deformities 4 97.96 Very High Very High Very High
Diabetes Mellitus 108 97.92 Very High Very High Very High
Peripheral Neuropathy 7 97.76 Very High Very High Very High
Pain 41 97.32 Very High Very High Very High
Familial Dysautonomia 30 97.16 Very High Very High Very High
Spontaneous Fractures 8 96.72 Very High Very High Very High
Disease 111 96.68 Very High Very High Very High
Osteomyelitis 9 94.88 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
All mutations which have been identified as a cause of HSN I are summarised in the Mutation Database of Inherited Peripheral Neuropathies [20].
Positive_regulation (cause) of HSN associated with peripheral neuropathy and hsan
1) Confidence 0.70 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 0.64 Pain Relevance 0.41
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).
Positive_regulation (mutations) of SPTLC1 associated with hsan
2) Confidence 0.50 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 1.47 Pain Relevance 1.15
Despite the late onset of the disease, the progressive course, and the lancinating pain, the terminal features of this patient, which involved a selective loss of myelinated fibers and widespread sensory loss, seem to be symptomatic of HSAN II, the progressive form of autosomal recessive sensory neuropathy, and emphasize the clinical heterogeneity of HSAN.
Positive_regulation (symptomatic) of HSAN associated with pain, neuropathic pain, lancinating pain, hereditary sensory and autonomic neuropathies and disease
3) Confidence 0.50 Published 2003 Journal Clin Neurol Neurosurg Section Abstract Doc Link 12860510 Disease Relevance 0.85 Pain Relevance 0.18
HSAN IV is caused by mutations in the NTRK1 (TRKA) gene that is located on chromosome 1 (1q21-q22).
Positive_regulation (caused) of HSAN associated with hereditary sensory and autonomic neuropathies
4) Confidence 0.45 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2098750 Disease Relevance 0.67 Pain Relevance 0.04
The C133W and V144D SPTLC1 mutations were originally suggested to increase the serine palmitoyltransferase function with higher levels of glycosyl ceramide compared to controls behaving as gain of function mutations [13].
Positive_regulation (increase) of SPTLC1 (V144D)
5) Confidence 0.44 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 0.44 Pain Relevance 0.29
Foot deformity promotes ulcerations and skin changes such as hyperkeratosis at pressure points, which is also often prominent in HSN I.
Positive_regulation (prominent) of HSN in skin associated with foot deformities and hsan
6) Confidence 0.44 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 2.00 Pain Relevance 0.38
Comparing the kinetics between mutant and wildtype SPT showed that both forms have similar Km's for serine and alanine but that Vmax for alanine is greatly increased in the HSAN1 mutants [12].
Positive_regulation (increased) of HSAN1
7) Confidence 0.17 Published 2010 Journal Lipids Health Dis Section Body Doc Link PMC2931514 Disease Relevance 0.81 Pain Relevance 0.09
HSN1 is caused by mutations in the gene, encoding the long chain base 1 of serine palmitoyltransferase (SPT) [Nat.
Positive_regulation (caused) of HSN1
8) Confidence 0.17 Published 2004 Journal Biochim. Biophys. Acta Section Abstract Doc Link 14990347 Disease Relevance 0.30 Pain Relevance 0.10
The inherited neuropathy HSAN1 is caused by a pathological overproduction of DSBs due to several missense mutations in SPT [4].
Positive_regulation (caused) of HSAN1 associated with neuropathic pain
9) Confidence 0.16 Published 2010 Journal Lipids Health Dis Section Body Doc Link PMC2931514 Disease Relevance 0.98 Pain Relevance 0.15
This promiscuous activity is greatly increased in the case of the sensory neuropathy HSAN1, and pathologically elevated DSB levels have been identified as the cause of this disease.
Positive_regulation (increased) of HSAN1 associated with neuropathic pain and disease
10) Confidence 0.14 Published 2010 Journal Lipids Health Dis Section Abstract Doc Link PMC2931514 Disease Relevance 0.73 Pain Relevance 0
This observation is consistent with the hypothesis that HSAN1 is the result of a gain-of-function mutation in SPTLC1 that leads to accumulation of a toxic metabolite.
Positive_regulation (result) of HSAN1
11) Confidence 0.13 Published 2009 Journal J. Neurosci. Section Abstract Doc Link 19923297 Disease Relevance 0.43 Pain Relevance 0.06
CONCLUSION: SSR provides another parameter to improve differentiation of HSAN III from HSAN IV, and also gives us additional information regarding sympathetic sudomotor fiber function in these developmental diseases.


Positive_regulation (differentiation) of HSAN in sympathetic
12) Confidence 0.06 Published 1999 Journal Neurology Section Body Doc Link 10331694 Disease Relevance 0 Pain Relevance 0
CONCLUSION: SSR provides another parameter to improve differentiation of HSAN III from HSAN IV, and also gives us additional information regarding sympathetic sudomotor fiber function in these developmental diseases.


Positive_regulation (differentiation) of HSAN in sympathetic
13) Confidence 0.06 Published 1999 Journal Neurology Section Body Doc Link 10331694 Disease Relevance 0 Pain Relevance 0
Mutations in this gene are known to be responsible for HSAN IV (congenital insensitivity to pain with anhidrosis).
Positive_regulation (responsible) of HSAN associated with hereditary sensory and autonomic neuropathies and hsan
14) Confidence 0.03 Published 2001 Journal Ann. Neurol. Section Abstract Doc Link 11310631 Disease Relevance 0.93 Pain Relevance 0.27

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