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Context Info
Confidence 0.48
First Reported 2009
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 2
Disease Relevance 0.67
Pain Relevance 0.04

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

extracellular region (Npc2) enzyme binding (Npc2) lysosome (Npc2)
Anatomy Link Frequency
fibroblasts 1
Npc2 (Mus musculus)
Pain Link Frequency Relevance Heat
antidepressant 1 74.80 Quite High
imagery 6 5.00 Very Low Very Low Very Low
cINOD 1 5.00 Very Low Very Low Very Low
depression 1 5.00 Very Low Very Low Very Low
antiepileptic Drug 1 5.00 Very Low Very Low Very Low
Bioavailability 1 5.00 Very Low Very Low Very Low
peripheral neuropathy 1 5.00 Very Low Very Low Very Low
headache 1 5.00 Very Low Very Low Very Low
medulla 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 143 78.48 Quite High
Convulsion 10 75.60 Quite High
Sleep Disorders 15 72.16 Quite High
Tremor 5 68.80 Quite High
Dystonia 13 67.92 Quite High
Neurologic Manifestations 21 57.92 Quite High
Hepatotoxicity 2 50.92 Quite High
Pick Disease Of The Brain 14 50.00 Quite Low
Dysphagia 8 47.04 Quite Low
Congenital Anomalies 12 26.24 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Studies in patients and animal models have shown that both NPC2 and NPC1 are required for cholesterol egress from the lysosome.
Positive_regulation (required) of NPC2
1) Confidence 0.48 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2902432 Disease Relevance 0 Pain Relevance 0
A clinical diagnosis of NP-C requires in-depth screening for characteristic neurological (as well as systemic) features, and must be confirmed by laboratory biochemical and/or molecular genetic testing.1,3 The key laboratory diagnostic test for NP-C is filipin staining of cultured skin fibroblasts from the patient, to demonstrate free cholesterol accumulation in lysosomes secondary to impaired intracellular cholesterol transport.20 Evaluation of the rate of intracellular cholesterol esterification is a useful complementary test.20 Molecular genetic testing for NPC1 and NPC2 gene mutations is also vital to confirm diagnoses in patients with a variant biochemical phenotype, as well as to enable early and reliable prenatal diagnosis.20
Positive_regulation (mutations) of NPC2 in fibroblasts
2) Confidence 0.47 Published 2009 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2781062 Disease Relevance 0.67 Pain Relevance 0.04

General Comments

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